Affinage

CHD7

ATP-dependent chromatin remodeler CHD7 · UniProt Q9P2D1

Length
2997 aa
Mass
335.9 kDa
Annotated
2026-06-09
100 papers in source corpus 35 papers cited in narrative 35 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

CHD7 is an ATP-dependent nucleosome remodeling factor with biochemical properties distinct from SWI/SNF- and ISWI-type remodelers, and patient-derived CHARGE syndrome mutations range from subtle to complete inactivation of this remodeling activity (PMID:23134727). It binds discrete, cell-type-specific chromatin sites distal to transcription start sites that correlate with H3K4 methylation and DNase hypersensitivity, functioning predominantly at enhancers and super-enhancers where it promotes chromatin accessibility, active histone marks (H3K27ac, H3K4me1), and RNA Pol II recruitment to activate lineage-specific transcription (PMID:19251738, PMID:34588434, PMID:29440260). CHD7 directs cell-fate decisions across multiple developmental programs largely by partnering with sequence-specific transcription factors: it cooperates with the PBAF complex at neural crest enhancers (SOX9, TWIST1) to drive neural crest formation (PMID:20130577), with SOX2 in neural stem cells and the otocyst to co-regulate otic and neurogenic targets (PMID:21532573, PMID:38408234), with SOX10 at myelinogenic enhancers in oligodendrocyte precursors (PMID:26928066), with SMAD1 downstream of BMP signaling at the SP7/Osterix enhancer in osteogenesis (PMID:27586276), and with RUNX1 to restrain hematopoietic stem/progenitor expansion (PMID:32883883). Across neural lineages it maintains open chromatin at specific targets including Sox4/Sox11, Reln, and Aldh1a3 to control neuronal differentiation, cerebellar granule cell development, and neural stem cell quiescence (PMID:23827709, PMID:28165338, PMID:24026680, PMID:25183173). CHD7 acts through both ATPase-dependent remodeling and an ATPase-independent mode that recruits H3K4 methyltransferase activity via direct interaction with WDR5 (PMID:33127760). Beyond transcriptional enhancer control, CHD7 localizes to the nucleolus where it binds hypomethylated active rDNA to promote 45S pre-rRNA synthesis (PMID:20591827), and is recruited by PARP1 to DNA double-strand breaks where it relaxes chromatin and recruits HDAC1/2 to promote canonical non-homologous end-joining (PMID:33188175). CHD7 directly interacts with the related remodeler CHD8, and CHARGE-associated missense mutations disrupt this interaction (PMID:20453063).

Mechanistic history

Synthesis pass · year-by-year structured walk · 34 steps
  1. 2009 High

    Establishing where CHD7 acts in the genome was the first step toward defining its function; mapping showed it occupies cell-type-specific enhancer-like sites that track with H3K4 methylation.

    Evidence ChIP-chip across multiple human and mouse cell types before and after ES cell differentiation

    PMID:19251738

    Open questions at the time
    • Did not establish what CHD7 does biochemically at these sites
    • Did not identify recruiting transcription factors
  2. 2009 High

    Genetic interaction studies began to connect CHD7 dosage to specific developmental defects, showing a synergistic requirement with Tbx1 in pharyngeal ectoderm for great vessel development.

    Evidence Mouse double-heterozygote epistasis with tissue-specific Cre rescue

    PMID:19855134

    Open questions at the time
    • No molecular mechanism linking CHD7 and Tbx1
    • Direct chromatin targets unidentified
  3. 2010 High

    Identifying CHD7's protein partners and direct enhancer targets clarified how it activates lineage programs; CHD7 cooperates with PBAF at neural crest enhancers and ATPase activity is essential for neural crest transcription.

    Evidence Co-IP, ChIP at SOX9/TWIST1 enhancers, Xenopus knockdown and catalytic-mutant rescue, human neural crest assays

    PMID:20130577

    Open questions at the time
    • Mechanism of PBAF cooperation not resolved
    • Generality beyond neural crest enhancers untested at the time
  4. 2010 High

    CHD7 was found to have a distinct nucleolar role; it binds active rDNA and promotes pre-rRNA synthesis, linking it to ribosome biogenesis and cell proliferation.

    Evidence Immunofluorescence/fractionation, ChIP, siRNA, overexpression, Chd7 mouse models

    PMID:20591827

    Open questions at the time
    • Whether rDNA regulation requires remodeling ATPase activity not defined
    • Relationship to enhancer function unclear
  5. 2010 Medium

    A direct CHD7-CHD8 interaction was identified and shown to be disrupted by CHARGE missense mutations, suggesting a shared remodeler complex relevant to disease.

    Evidence Yeast two-hybrid, Co-IP, BiFC, missense mutation testing

    PMID:20453063

    Open questions at the time
    • Mutation effect on interaction confirmed in Y2H but not in Co-IP
    • Functional consequence of the complex not defined
  6. 2011 High

    A SOX2 partnership was defined, showing CHD7 and SOX2 co-occupy and co-regulate shared targets in neural stem cells, with in vivo relevance to inner ear development.

    Evidence Sox2 pulldown/MS, ChIP-seq overlap, Co-IP, Chd7 haploinsufficient embryo expression

    PMID:21532573

    Open questions at the time
    • Order of recruitment between CHD7 and SOX2 unresolved
    • Whether interaction is direct or complex-mediated unclear
  7. 2012 High

    Biochemical reconstitution proved CHD7 is itself an ATP-dependent nucleosome remodeler distinct from other families, and graded CHARGE mutations impair this activity to varying degrees.

    Evidence Purified recombinant CHD7 in vitro remodeling assays and patient-mutation mutagenesis

    PMID:23134727

    Open questions at the time
    • Did not define in vivo substrates or directional outcome of remodeling
    • No structural model of the active enzyme
  8. 2012 Medium

    CHD7's complex composition was extended by identifying FAM124B as a CHD7/CHD8-associated nuclear protein with overlapping embryonic expression.

    Evidence SILAC MS, Co-IP, yeast two-hybrid, in situ hybridization

    PMID:23285124

    Open questions at the time
    • Functional role of FAM124B in the complex uncharacterized
    • FAM124B binds CHD8 directly; direct contact with CHD7 not shown
  9. 2012 Medium

    Direct enhancer-level control of a developmental morphogen was demonstrated; CHD7 binds a Bmp4 enhancer and its loss misregulates Bmp4 to cause telencephalic midline defects.

    Evidence Chd7 mutant mouse, in vitro enhancer binding, in situ hybridization

    PMID:22658483

    Open questions at the time
    • Binding shown in vitro; in vivo occupancy not established
    • Mechanism producing both loss and ectopic expression unexplained
  10. 2013 Medium

    CHD7 was shown to remodel specific promoters to an open state to drive neuronal differentiation, linking chromatin opening to a defined cellular phenotype.

    Evidence Conditional mouse KO, chromatin accessibility at Sox4/Sox11, neurosphere and differentiation assays, exercise rescue

    PMID:23827709

    Open questions at the time
    • Direct vs indirect remodeling at these promoters not fully separated
    • Mechanism of exercise rescue unknown
  11. 2013 Medium

    Genetic epistasis in zebrafish placed CHD7 in a pathway with rDNA regulation, as knockdown of the rRNA repressor fbxl10/kdm2bb rescued CHARGE-like craniofacial phenotypes.

    Evidence Zebrafish morpholino knockdown, double-knockdown rescue, proliferation and cartilage assays

    PMID:23920116

    Open questions at the time
    • Morpholino-based knockdown carries off-target risk
    • Direct molecular link between CHD7 and kdm2bb not shown
  12. 2014 High

    CHD7 was shown to repress retinoic acid synthesis through direct binding to Aldh1a3, integrating it with RA signaling in stem cell niches and inner ear development.

    Evidence Conditional KO, ChIP at Aldh1a3, genetic rescue by Aldh1a3 loss, in vitro RA modulation

    PMID:24026680

    Open questions at the time
    • How CHD7 represses rather than activates this target mechanistically unresolved
  13. 2014 Low

    A candidate role in the DNA damage response was raised, with CHD7 depletion impairing ATR-dependent CHK1 phosphorylation and sensitizing pancreatic cancer cells to gemcitabine.

    Evidence siRNA knockdown in PDAC cell lines, phospho-CHK1 western blot, xenografts

    PMID:24626090

    Open questions at the time
    • Mechanism inferred from a phosphorylation change in a single cell line, not reconstituted
    • No direct CHD7 role at ATR/CHK1 demonstrated
  14. 2015 Medium

    CHD7 was shown to maintain adult hippocampal NSC quiescence, repressing cell-cycle drivers and enabling full Hes5 induction, defining a stem-cell maintenance function.

    Evidence Inducible adult NSC-specific KO, BrdU pulse-chase, Hes5 and cell-cycle gene expression

    PMID:25183173

    Open questions at the time
    • Direct chromatin targets for quiescence not mapped
    • Connection to Notch pathway mechanism incomplete
  15. 2015 High

    Direct cardiac enhancer regulation was demonstrated; CHD7 binds the Sema3c promoter in cardiogenic mesoderm and controls semaphorin/Slit-Robo and calcium-handling genes for cardiovascular development.

    Evidence Mesp1-Cre conditional KO, ChIP at Sema3c, chromatin structure and transcriptome profiling, excitation-contraction assay

    PMID:26102480

    Open questions at the time
    • Partner transcription factors at cardiac enhancers not identified here
  16. 2016 High

    A SOX10 partnership in oligodendrocyte precursors was established, defining CHD7's role in CNS myelination through enhancer targeting of myelinogenic genes.

    Evidence Co-IP, ChIP-seq, RNA-seq, conditional KO in mice

    PMID:26928066

    Open questions at the time
    • Whether SOX10 recruits CHD7 or vice versa not resolved
  17. 2016 Medium

    CHD7 was linked to BMP-driven osteogenesis via a SMAD1 interaction and BMP2-stimulated binding to the SP7/Osterix enhancer.

    Evidence Co-IP, ChIP at SP7 enhancer after BMP2, siRNA, overexpression, in vivo scaffold assay

    PMID:27586276

    Open questions at the time
    • Whether SMAD1-CHD7 interaction is direct not established
    • Single-lab data
  18. 2016 Medium

    CHD7 was placed in a pluripotency-factor regulatory module at the FoxD3 locus, co-occupying enhancers with Oct3/4, Sox2, and Nanog and requiring H3K4 methylation for neural crest gene activation.

    Evidence ChIP at FoxD3 regulatory elements, siRNA, histone methylation inhibition

    PMID:27579714

    Open questions at the time
    • Direct physical interactions among these factors not shown
    • Single-lab study
  19. 2017 High

    Comparative biochemistry distinguished CHD6/7/8 remodeling activities, showing CHD7 prefers short linker DNA and slides nucleosomes differently than CHD8, providing a basis for their non-redundant roles.

    Evidence In vitro binding and sliding assays with purified CHD6, CHD7, CHD8

    PMID:28533432

    Open questions at the time
    • In vivo correlation of these biochemical preferences not demonstrated
  20. 2017 High

    CHD7 was shown to open chromatin for cerebellar granule neuron differentiation, cooperating with Top2b to transcribe long neuronal genes.

    Evidence Conditional KO, ATAC-seq, RNA-seq, Top2b co-dependence analysis

    PMID:28317875

    Open questions at the time
    • Molecular nature of CHD7-Top2b functional cooperation not detailed
  21. 2017 High

    A specific direct target, Reln, was identified as CHD7-dependent in cerebellar granule cell progenitors, with genetic rescue confirming its role in the proliferative defect.

    Evidence Conditional KO, chromatin accessibility at Reln, genetic rescue

    PMID:28165338

    Open questions at the time
    • How CHD7 selects this locus among many enhancers unresolved
  22. 2017 Medium

    A CHD7-Sox2 complex was shown to drive OPC proliferation after spinal cord injury via Rgcc and PKCθ, extending the SOX2 partnership to injury repair.

    Evidence OPC-specific KO, Co-IP, ChIP at Rgcc/PKCθ, overexpression rescue

    PMID:28931573

    Open questions at the time
    • Single lab
    • Directness of CHD7-Sox2 contact not biochemically resolved
  23. 2017 Medium

    An oncogenic-cofactor role in leukemia was identified; CHD7 interacts with CBFβ-SMMHC through RUNX1 and enhances RUNX1 target transcription, with CHD7 loss delaying CBFB-MYH11 leukemia.

    Evidence Co-IP, reporter assays, RNA-seq, conditional KO mouse, proliferation assay

    PMID:29018080

    Open questions at the time
    • Single lab
    • Mechanism of transcriptional enhancement not fully defined
  24. 2018 High

    Using CHARGE patient iPSCs, CHD7 was shown to activate super-enhancers maintaining neuroepithelial/CNS identity, with its loss causing a fate shift to neural crest.

    Evidence Patient iPSCs, H3K27ac ChIP-seq, siRNA, transcriptome profiling, BRN2/SOX21 rescue

    PMID:29440260

    Open questions at the time
    • Mechanism by which CHD7 selects super-enhancers not defined
  25. 2020 High

    CHD7 was placed in DNA double-strand break repair; PARP1 recruits CHD7, which relaxes chromatin and recruits HDAC1/2 to promote canonical NHEJ, with loss shifting repair to mutagenic 53BP1-dependent NHEJ.

    Evidence Live-cell imaging of recruitment, Co-IP with HDAC1/2, ChIP at breaks, NHEJ assays, 53BP1 epistasis

    PMID:33188175

    Open questions at the time
    • Whether DSB recruitment uses the same domains as transcriptional targeting unknown
  26. 2020 High

    The ATPase-independent mode of CHD7 was defined; it directly binds WDR5 and an ATPase-dead knock-in still recruits H3K4 methyltransferase activity, separating remodeling from histone-modification recruitment.

    Evidence Protein-array screen, Co-IP, ATPase-dead knock-in mouse, ChIP for H3K4me, RNA-seq

    PMID:33127760

    Open questions at the time
    • Which target genes depend on each mode not comprehensively mapped
  27. 2020 High

    A RUNX1 partnership in development was established showing CHD7 restrains hematopoietic stem/progenitor expansion, with genome-wide co-occupancy at RUNX1 motifs.

    Evidence Co-IP, ChIP-seq, conditional KO in zebrafish and mouse, hematopoietic flow cytometry

    PMID:32883883

    Open questions at the time
    • Mechanism of repression of RUNX1-driven expansion not fully defined
  28. 2020 Medium

    CHD7 was identified as a let-7 microRNA target, defining a post-transcriptional control layer regulating CHD7 protein in sensory progenitor differentiation.

    Evidence let-7 sponge and overexpression in chicken and mouse, conserved 3'UTR site, CHD7 protein immunofluorescence

    PMID:32816902

    Open questions at the time
    • Physiological dynamics of let-7-CHD7 regulation in normal development not quantified
  29. 2021 High

    CHD7 was shown to robustly establish active enhancer chromatin and coordinate topologically interacting gene expression in cerebellar granule cell precursors, connecting enhancer activation to 3D genome architecture.

    Evidence Conditional KO, ATAC-seq, ChIP-seq (H3K27ac, H3K4me1, Pol II), Hi-C, division-orientation analysis

    PMID:34588434

    Open questions at the time
    • Direct role of CHD7 in shaping genome topology vs downstream consequence unresolved
  30. 2021 Medium

    A direct target, paqr3b, was identified in GABAergic neuron progenitors, with CHD7 loss elevating MAPK/ERK signaling and a pharmacological rescue restoring the phenotype.

    Evidence chd7 KO zebrafish, ChIP at paqr3b, transcriptomics, ephedrine rescue, C. elegans screen

    PMID:33900016

    Open questions at the time
    • Single lab
    • Conservation of the paqr3b axis to mammals not tested
  31. 2021 Medium

    CHD7 was shown to protect auditory neurons and hair cells postnatally by controlling stress pathway gene expression, explaining sensorineural hearing loss as stress-triggered degeneration.

    Evidence Cell-type-specific conditional KO, auditory brainstem response, stress-inducer assays, expression analysis

    PMID:34732824

    Open questions at the time
    • Direct CHD7 targets among stress genes not mapped
    • Single lab
  32. 2022 High

    A metabolic/lineage-balance role was defined; loss of CHD7 in mesenchymal progenitors de-represses PPAR-γ, which engages H3K4me3 to activate adipogenesis at the expense of osteogenesis.

    Evidence Conditional KO, RNA-seq, ChIP for PPAR-γ and H3K4me3, differentiation and rescue assays

    PMID:35418650

    Open questions at the time
    • Direct vs indirect restraint of PPAR-γ by CHD7 not resolved
  33. 2022 High

    Human inner ear organoids showed CHD7 and its remodeling activity are essential for hair cell and supporting cell formation, while a remodeling-independent mode also regulates otic genes, with non-cell-autonomous partial rescue.

    Evidence Human PSC organoids, CRISPR KO and ATPase-dead mutant, RNA-seq, chimeric rescue

    PMID:36396635

    Open questions at the time
    • Identity of the remodeling-independent mechanism in otic cells unresolved
    • Basis of non-cell-autonomous rescue unknown
  34. 2024 High

    The CHD7-SOX2 partnership was resolved at the gene-regulatory-network level in the otocyst, with both factors binding independently and cooperatively to control otic patterning genes during a defined critical period.

    Evidence Variable-dosage Chd7/Sox2 mouse genetics, CUT&Tag, RNA-seq, inducible KO defining E9.5 critical period

    PMID:38408234

    Open questions at the time
    • Structural basis of cooperative vs independent binding not addressed

Open questions

Synthesis pass · forward-looking unresolved questions
  • How CHD7 is targeted to specific enhancers and super-enhancers in different cell types, and how it allocates between its ATPase-dependent remodeling and ATPase-independent histone-modifier recruitment modes at each target, remains unresolved.
  • No structural model of CHD7 engaging a nucleosome or partner factor
  • Rules governing choice of remodeling vs recruitment mode at a given locus undefined
  • Determinants of cell-type-specific recruitment not established

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0003677 DNA binding 3 GO:0140110 transcription regulator activity 3 GO:0060090 molecular adaptor activity 2 GO:0140096 catalytic activity, acting on a protein 2 GO:0140657 ATP-dependent activity 2
Localization
GO:0000228 nuclear chromosome 2 GO:0005634 nucleus 2 GO:0005730 nucleolus 1
Pathway
R-HSA-1266738 Developmental Biology 4 R-HSA-4839726 Chromatin organization 4 R-HSA-74160 Gene expression (Transcription) 3 R-HSA-73894 DNA Repair 1 R-HSA-8953854 Metabolism of RNA 1
Partners
CHD8FAM124BHDAC1RUNX1SMAD1SOX10SOX2WDR5
Complex memberships
CHD7-CHD8 complexPBAF

Evidence

Reading pass · 35 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2010 CHD7 associates with PBAF (polybromo- and BRG1-associated factor-containing complex) in human neural crest cells; both remodelers occupy a neural crest-specific distal SOX9 enhancer and a conserved element upstream of TWIST1, cooperating to promote neural crest gene expression and cell migration. Catalytically inactive CHD7 overexpression or CHD7 knockdown in Xenopus recapitulates CHARGE syndrome features, establishing CHD7 ATPase activity as essential for neural crest transcriptional circuitry (Sox9, Twist, Slug activation). Co-immunoprecipitation, ChIP, Xenopus loss-of-function (morpholino knockdown and catalytic mutant overexpression), human neural crest cell functional assays Nature High 20130577
2009 CHD7 localizes to discrete, cell-type-specific chromatin sites that correlate with histone H3K4 methylation (H3K4me); these sites are predominantly distal to transcription start sites, overlap with DNase hypersensitive sites, and shift concomitantly with H3K4me patterns during ES cell differentiation—consistent with CHD7 functioning at enhancer elements. ChIP-chip (chromatin immunoprecipitation on tiled microarrays) in human colorectal carcinoma cells, human neuroblastoma cells, and mouse ES cells before and after neural precursor differentiation Genome research High 19251738
2011 CHD7 physically interacts with the HMG-box transcription factor SOX2 in neural stem cells; the two proteins have overlapping genome-wide binding sites and co-regulate a common set of target genes including Jag1, Gli3, and Mycn. Chd7-haploinsufficient embryos show severely reduced Jag1 expression in the developing inner ear. Proteomic interaction screen (Sox2 pulldown + mass spectrometry), genome-wide ChIP (ChIP-seq), co-immunoprecipitation, expression analysis in Chd7 haploinsufficient embryos Nature genetics High 21532573
2012 Purified recombinant CHD7 is an ATP-dependent nucleosome remodeling factor with biochemical characteristics distinct from SWI/SNF- and ISWI-type remodelers. Patient-derived CHARGE syndrome mutations have consequences ranging from subtle to complete inactivation of remodeling activity; truncations upstream of amino acid 1899 likely cause a hypomorphic remodeling phenotype. Dual-tag purification of intact recombinant CHD7; in vitro nucleosome remodeling assays; mutagenesis analysis of patient mutations Proceedings of the National Academy of Sciences of the United States of America High 23134727
2010 CHD7 localizes constitutively to the nucleolus and physically associates with hypomethylated, actively transcribed rDNA. siRNA-mediated depletion of CHD7 causes hypermethylation of the rDNA promoter and reduction of 45S pre-rRNA levels, while CHD7 overexpression increases 45S pre-rRNA. CHD7 depletion also reduces cell proliferation and protein synthesis. Reduced pre-rRNA is observed in Chd7+/− and Chd7−/− mouse ES cells and embryos. Immunofluorescence and subcellular fractionation western blot; ChIP (standard and ChIP-chop); ChIP-seq rDNA alignment; siRNA knockdown; CHD7 overexpression; Chd7 mouse genetic models Human molecular genetics High 20591827
2010 CHD7 interacts directly with CHD8; the interaction was identified by yeast two-hybrid screen and confirmed by co-immunoprecipitation and bimolecular fluorescence complementation. Specific CHARGE syndrome missense mutations in CHD7 (p.Trp2091Arg, p.His2096Arg, p.Gly2108Arg) disrupt the direct CHD7–CHD8 interaction in yeast two-hybrid assays. Yeast two-hybrid library screen and direct yeast two-hybrid; co-immunoprecipitation; bimolecular fluorescence complementation; missense mutation functional testing Human molecular genetics Medium 20453063
2016 CHD7 directly interacts with SOX10 in oligodendrocyte precursors; genome-wide occupancy analysis coupled with transcriptome profiling shows that CHD7 targets the enhancers of key myelinogenic genes. Chd7 is a direct transcriptional target of Olig2 and Smarca4/Brg1. Loss of Chd7 impairs proper onset of CNS myelination and remyelination, with CHD7 also targeting bone formation regulators Osterix (Sp7) and Creb3l2 required for oligodendrocyte maturation. ChIP-seq (genome-wide occupancy), RNA-seq (transcriptome profiling), co-immunoprecipitation (CHD7–SOX10 interaction), conditional genetic knockout in mice Nature neuroscience High 26928066
2013 CHD7 promotes transcription of Sox4 and Sox11 by remodeling their promoters to an open chromatin state in neural stem cells. Genetic inactivation of CHD7 in NSCs reduces neuronal differentiation and causes aberrant dendritic development of newborn neurons. Physical exercise rescues the CHD7 mutant phenotype in the adult hippocampal dentate gyrus. Conditional genetic knockout in mice; ATAC/chromatin accessibility assays at Sox4/Sox11 promoters; neurosphere assays; BrdU/EdU proliferation; in vivo rescue by exercise Cell stem cell Medium 23827709
2017 CHD7 is required for maintenance of open chromatin and activation of genes essential for granule neuron differentiation; it cooperates with Top2b for transcription of long neuronal genes in cerebellar granule neurons. Genetic inactivation of Chd7 in cerebellar granule neuron progenitors causes cerebellar hypoplasia due to impaired differentiation and apoptosis. Conditional genetic knockout in mice; ATAC-seq (open chromatin profiling); RNA-seq; molecular analysis of Top2b co-dependence Nature communications High 28317875
2017 CHD7 directly regulates Reln (reelin) expression by maintaining an open, accessible chromatin state at the Reln locus in cerebellar granule cell progenitors. Reduction in Reln expression contributes to GCP proliferative defects and cerebellar hypoplasia in Chd7 conditional mutant mice. Conditional knockout in mice; genome-wide expression profiling; chromatin accessibility assays at the Reln locus; genetic rescue by Reln expression The Journal of clinical investigation High 28165338
2020 CHD7 is recruited to DNA double-strand break sites via PARP1-triggered chromatin remodeling; it stimulates chromatin relaxation around break sites and recruits HDAC1/2 for localized chromatin de-acetylation. This coordinated 'chromatin breathing' fosters efficient non-homologous end-joining (NHEJ) by controlling Ku and LIG4/XRCC4 activities. Loss of CHD7-HDAC1/2-dependent canonical NHEJ shifts repair to 53BP1-dependent mutagenic NHEJ. Live-cell imaging of CHD7 recruitment to DSBs; co-immunoprecipitation (CHD7–HDAC1/2 interaction); ChIP at break sites; functional NHEJ assays; epistasis with 53BP1 Nature communications High 33188175
2020 CHD7 directly interacts with WDR5, a core component of H3K4 methyltransferase complexes (identified by protein-array screen with recombinant CHD7). An ATPase-dead CHD7 knock-in mouse model retains the ability to recruit H3K4 methyltransferase activity to its target loci, demonstrating that CHD7 regulates cardiovascular development through both ATP-dependent (chromatin remodeling) and ATP-independent (recruitment of H3K4 methyltransferase activity) mechanisms. Protein-array screen with purified recombinant CHD7; Co-IP (CHD7–WDR5); ATPase-deficient knock-in mouse model; ChIP for H3K4me marks; RNA-seq in neural crest cells Proceedings of the National Academy of Sciences of the United States of America High 33127760
2021 CHD7 robustly promotes chromatin accessibility, active histone modifications (H3K27ac, H3K4me1), and RNA Pol II recruitment at enhancers in cerebellar granule cell precursors. In vivo genome architecture profiling shows CHD7 concordantly regulates epigenomic modifications and expression of topologically-interacting genes. Loss of CHD7 in GCPs triggers cerebellar polymicrogyria and alters preferred orientation of GCP division. Conditional KO in mice; ATAC-seq; ChIP-seq (H3K27ac, H3K4me1, Pol II); Hi-C genome architecture; cell division orientation analysis Nature communications High 34588434
2017 CHD7 and CHD8 exhibit distinct nucleosome remodeling activities: CHD7 binds with high affinity to short linker DNA whereas CHD8 requires longer linker DNA. As a result, CHD7 and CHD8 slide nucleosomes into different positions; CHD6 disrupts nucleosomes without sliding. These distinct biochemical activities likely underlie their non-redundant in vivo roles. In vitro biochemical assays with purified CHD6, CHD7, CHD8; nucleosome binding assays; nucleosome sliding assays on defined substrates The Journal of biological chemistry High 28533432
2009 Chd7 and Tbx1 show a synergistic genetic interaction: Tbx1+/−;Chd7+/− double heterozygotes display synergistic defects in fourth pharyngeal arch artery, thymus, and ear morphogenesis. Biallelic expression of Chd7 and Tbx1 specifically in the pharyngeal ectoderm (not neural crest) is required for normal great vessel development. Mouse genetic epistasis (double heterozygote cross); tissue-specific Cre rescue (neural crest vs. pharyngeal ectoderm); paint-filling of pharyngeal arch arteries The Journal of clinical investigation High 19855134
2015 CHD7 is required to maintain neural stem cell quiescence in the hippocampus; inducible CHD7 inactivation in adult NSCs causes loss of quiescence, transient increase in cell divisions, followed by NSC depletion in middle-aged mice. CHD7 represses positive regulators of cell cycle progression and is required for full induction of the Notch target gene Hes5 in quiescent NSCs. Inducible conditional KO in mice (adult NSC-specific Cre); BrdU pulse-chase; immunofluorescence; gene expression analysis of Hes5 and cell cycle genes Stem cells Medium 25183173
2014 CHD7 and retinoic acid (RA) signaling cooperate in a common pathway: CHD7 directly binds and represses the RA synthesis gene Aldh1a3; loss of Aldh1a3 partially rescues Chd7 mutant mouse inner ear defects. CHD7 loss causes cell-autonomous proliferative, neurogenic, and self-renewal defects in the perinatal and mature SVZ stem cell niche. Conditional KO mouse models (Chd7); ChIP for CHD7 at Aldh1a3 locus; genetic rescue (Aldh1a3 loss in Chd7 mutant background); in vitro RA modulation of neural stem cells Human molecular genetics High 24026680
2022 Conditional knockout of Chd7 in bone marrow mesenchymal stem cells/preosteoblasts leads to enhanced PPAR-γ signaling; loss of Chd7 reduces restriction of PPAR-γ, which then associates with H3K4me3 marks to activate downstream adipogenic gene transcription, disrupting osteogenic/adipogenic balance. Conditional KO in mice (MSC/preosteoblast-specific Cre); RNA-seq; ChIP (H3K4me3, PPAR-γ binding); in vitro differentiation assays; loss-of-function and rescue experiments Nature communications High 35418650
2016 CHD7 interacts with SMAD1, a downstream effector of BMP signaling, in mesenchymal stem cells; BMP2 stimulates binding of CHD7 to the enhancer region of SP7 (Osterix), promoting osteogenic differentiation. CHD7 depletion inhibits key osteogenic transcription factors and impairs osteogenic capability of MSCs. Co-immunoprecipitation (CHD7–SMAD1); ChIP (CHD7 at SP7 enhancer after BMP2 treatment); siRNA knockdown; overexpression; in vivo scaffold assay Biochemical and biophysical research communications Medium 27586276
2012 FAM124B is a novel component of a CHD7- and CHD8-containing complex; identified by SILAC mass spectrometry and confirmed by co-immunoprecipitation. FAM124B shows direct binding to CHD8 by yeast two-hybrid. FAM124B is a nuclear protein with overlapping embryonic expression with Chd7. SILAC mass spectrometry; co-immunoprecipitation; direct yeast two-hybrid; immunofluorescence (nuclear localization); in situ hybridization (mouse expression) PloS one Medium 23285124
2020 CHD7 physically interacts with RUNX1 and suppresses RUNX1-induced expansion of hematopoietic stem and progenitor cells during development. CHD7 occupancy correlates with RUNX1 binding motifs genome-wide; decreased RUNX1 occupancy correlates with loss of CHD7 localization. CHD7 loss leads to expanded HSPCs, erythroid, and myeloid lineages in zebrafish and mouse embryos. Co-immunoprecipitation (CHD7–RUNX1); ChIP-seq; genetic KO in zebrafish and mouse (conditional); flow cytometry of hematopoietic populations Proceedings of the National Academy of Sciences of the United States of America High 32883883
2017 CHD7 interacts with CBFβ-SMMHC through RUNX1 and enhances transcriptional activity of RUNX1 and CBFβ-SMMHC on the Csf1r target gene. CHD7 deficiency delays CBFB-MYH11-induced leukemia and alters expression of RUNX1 target genes. Co-immunoprecipitation; reporter transcription assays; RNA-seq; conditional KO mouse (Mx1-Cre); BrdU proliferation assay Blood Medium 29018080
2018 CHD7 is required for epigenetic activation of superenhancers and CNS-specific enhancers in human neuroepithelial cells, maintaining NE and CNS lineage identity. CHD7 shapes cellular identity by activating BRN2 and SOX21 as downstream effectors via superenhancer interactions. Loss of CHD7 causes neuroepithelial-to-neural crest cell fate shift. CHARGE patient-derived iPSCs; H3K27ac ChIP-seq (superenhancer mapping); siRNA knockdown in human NE cells; transcriptome profiling; BRN2 and SOX21 functional rescue Genes & development High 29440260
2017 Chd7 forms a complex with Sox2 in oligodendrocyte precursor cells and together they bind the promoters/enhancers of Rgcc and PKCθ to induce their expression, promoting OPC proliferation after spinal cord injury. Ablation of Chd7 or Sox2 in OPCs leads to similar phenotypes (reduced proliferation, loss of OPC identity). Overexpression of Rgcc and PKCθ rescues Chd7 deletion phenotypes. OPC-specific Cre KO in mice; co-immunoprecipitation (Chd7–Sox2); ChIP at Rgcc and PKCθ loci; overexpression rescue; in vitro OPC culture The Journal of neuroscience Medium 28931573
2021 CHD7 directly activates paqr3b expression in GABAergic neuron progenitors; loss of CHD7 downregulates paqr3b and causes upregulation of MAPK/ERK signaling. CHD7 deficiency leads to fewer GABAergic neurons and hyperactivity behavior in zebrafish. Ephedrine restores MAPK/ERK signaling and rescues GABAergic defects in chd7−/− zebrafish. chd7 knockout zebrafish; ChIP (CHD7 at paqr3b locus); transcriptomics; pharmacological rescue with ephedrine; C. elegans phenotype-based screen EMBO reports Medium 33900016
2013 Morpholino knockdown of chd7 in zebrafish elevates expression of cell-cycle inhibitors (p16/p15, p21, p27) with concomitant reduced cell proliferation and defects in neural crest-derived craniofacial cartilage. Knockdown of the histone demethylase fbxl10/kdm2bb (a repressor of rRNA genes) rescues chd7 morphant CHARGE-like phenotypes, placing CHD7 in a genetic pathway with rDNA regulation. Morpholino knockdown in zebrafish; genetic epistasis (double knockdown rescue); cell proliferation assays; gene expression analysis; cartilage staining Developmental biology Medium 23920116
2015 CHD7 localizes to the Sema3c promoter in vivo in the cardiogenic mesoderm and its loss alters local chromatin structure at this locus, suggesting direct transcriptional regulation. Conditional deletion of Chd7 in Mesp1-expressing anterior mesoderm causes major structural cardiovascular defects, loss of cardiac innervation, and aberrant expression of Class 3 Semaphorin and Slit-Robo signaling pathway genes. CHD7 also regulates calcium handling genes in cardiomyocytes, with a functional defect in excitation-contraction coupling. Mesp1-Cre conditional KO in mice; ChIP (CHD7 at Sema3c promoter); chromatin structure analysis; genome-wide transcriptional profiling; functional excitation-contraction coupling assay Developmental biology High 26102480
2022 In human pluripotent stem cell-derived inner ear organoids, loss of CHD7 or its chromatin remodeling activity leads to complete absence of hair cells and supporting cells via dysregulation of key otic development-associated genes in otic progenitors. CHD7 can also regulate otic genes through a chromatin remodeling-independent mechanism. Co-differentiating CHD7 KO and wild-type cells in chimeric organoids partially rescues mutant phenotypes by restoring otic gene expression. Human PSC-derived inner ear organoids; CRISPR KO and ATPase-dead CHD7 mutant; transcriptome profiling (RNA-seq); chimeric organoid rescue assay Nature communications High 36396635
2024 CHD7 regulates Sox2 expression in the otocyst and acts early in a gene regulatory network controlling key otic patterning genes including Pax2 and Otx2. CHD7 and SOX2 independently and cooperatively bind at transcription start sites and enhancers to regulate otic progenitor gene expression. Combined haploinsufficiency for Chd7 and Sox2 results in reduced otic cell proliferation, severe semicircular canal malformations, and shortened cochleae with ectopic hair cells. Variable dosage Chd7/Sox2 mouse genetics; CUT&Tag (genome-wide binding profiling); RNA-seq; inducible conditional KO (critical period ~E9.5 identified) Proceedings of the National Academy of Sciences of the United States of America High 38408234
2016 CHD7, Oct3/4, Sox2, and Nanog co-occupy multiple conserved regulatory regions (mE1, mE2, mE3) of the FoxD3 locus in mouse neural crest cells in response to BMP2/Wnt3a signaling, directly inducing FoxD3 expression. Histone H3K4 mono- and trimethylation at these elements is required for FoxD3 activation. FoxD3 in turn promotes Sox10 expression, regulating neural crest-derived stem cell formation. ChIP (CHD7, Oct3/4, Sox2, Nanog at FoxD3 regulatory elements); siRNA knockdown; histone methylation inhibition; expression analysis The FEBS journal Medium 27579714
2012 In a Chd7 mutant mouse (COA1 nonsense mutation), CHD7 directly regulates Bmp4 expression by binding to an enhancer element downstream of the Bmp4 locus. Loss of CHD7 leads to misexpression (both downregulation and ectopic expansion) of Bmp4 in the forebrain, resulting in telencephalic midline developmental defects including corpus callosum crossing failure. Chd7 mutant mouse model; in vitro CHD7 binding to Bmp4 enhancer; in situ hybridization; immunohistochemistry; apoptosis analysis The American journal of pathology Medium 22658483
2021 Embryonic deletion of CHD7 in auditory neurons or hair cells leads to postnatal sensorineural hearing loss due to degeneration. Mechanistically, CHD7 controls expression of major stress pathway components; in CHD7-deficient hair cells, exposure to stress inducers triggers rapid death, suggesting sound at hearing onset triggers their degeneration. Conditional KO in mice (auditory neuron-specific and hair cell-specific Cre); auditory brainstem response testing; stress-inducer exposure assays; gene expression analysis of stress pathway components Communications biology Medium 34732824
2020 let-7 microRNAs directly repress CHD7 expression via a conserved let-7-5p-binding site in the CHD7/Chd7 3'UTR, identified in chicken, mouse, and human. let-7g overexpression in mice reduces CHD7 protein in developing inner ear, retina, and brain, identifying CHD7 as a mediator of let-7's role in auditory sensory progenitor differentiation control. let-7 sponge construct in chicken basilar papilla; let-7b overexpression; let-7g overexpression in mice; immunofluorescence for CHD7 protein; conserved binding site identification Development Medium 32816902
2019 Drosophila Kismet (CHD7/CHD8 ortholog) limits intestinal stem cell (ISC) number and proliferation. Kismet colocalizes genome-wide with the Trithorax-related/MLL3/4 modifier in ISCs and co-regulates Cbl, a negative regulator of EGFR. Loss of kismet or trr leads to elevated EGFR protein and signaling, promoting ISC self-renewal. Drosophila genetics (kismet loss-of-function); stem-cell-specific ChIP-seq; RNA-seq; EGFR protein level measurement; genetic epistasis Developmental cell Medium 31112698
2014 CHD7 silencing in pancreatic ductal adenocarcinoma cells impairs ATR-dependent phosphorylation of CHK1, suggesting CHD7 participates in the ATR-CHK1 DNA damage response pathway. CHD7 depletion sensitizes PDAC cells to gemcitabine and delays tumor growth in xenografts. siRNA knockdown in PDAC cell lines; ATR-CHK1 phosphorylation assay (western blot); xenograft tumor growth assay; synthetic lethal screen Cancer research Low 24626090

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2010 CHD7 cooperates with PBAF to control multipotent neural crest formation. Nature 497 20130577
2005 CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. Journal of medical genetics 313 16155193
2005 Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. American journal of human genetics 276 16400610
2008 Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. American journal of human genetics 241 18834967
2010 Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. American journal of medical genetics. Part A 237 20186815
2011 CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. Journal of medical genetics 236 21378379
2011 Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes. Nature genetics 207 21532573
2009 Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns. Genome research 198 19251738
2012 Mutation update on the CHD7 gene involved in CHARGE syndrome. Human mutation 197 22461308
2005 Multiple mutations in mouse Chd7 provide models for CHARGE syndrome. Human molecular genetics 177 16207732
1990 Identification of CRG-2. An interferon-inducible mRNA predicted to encode a murine monokine. The Journal of biological chemistry 163 2118520
2008 CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. Clinical genetics 153 19021638
2016 Chd7 cooperates with Sox10 and regulates the onset of CNS myelination and remyelination. Nature neuroscience 149 26928066
2007 Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues. Mammalian genome : official journal of the International Mammalian Genome Society 139 17334657
2006 Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. The Journal of pediatrics 126 16615981
2013 The chromatin remodeler CHD7 regulates adult neurogenesis via activation of SoxC transcription factors. Cell stem cell 124 23827709
1996 Genes for chemokines MuMig and Crg-2 are induced in protozoan and viral infections in response to IFN-gamma with patterns of tissue expression that suggest nonredundant roles in vivo. Journal of immunology (Baltimore, Md. : 1950) 120 8906829
2009 Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice. The Journal of clinical investigation 118 19855134
2015 Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. American journal of medical genetics. Part A 117 26590800
2007 CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis. American journal of human genetics 116 17436250
2017 Chd7 is indispensable for mammalian brain development through activation of a neuronal differentiation programme. Nature communications 115 28317875
2012 Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders. Proceedings of the National Academy of Sciences of the United States of America 105 23134727
2014 CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance. Human genetics 95 24728844
1994 IFN and virus-inducible expression of an immediate early gene, crg-2/IP-10, and a delayed gene, I-A alpha in astrocytes and microglia. Journal of immunology (Baltimore, Md. : 1950) 92 8301141
2009 Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome. Human molecular genetics 87 19279158
1999 The interferon-inducible chemokines MuMig and Crg-2 exhibit antiviral activity In vivo. Journal of virology 86 9882354
2010 CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis. Human molecular genetics 75 20591827
2015 CHD7 maintains neural stem cell quiescence and prevents premature stem cell depletion in the adult hippocampus. Stem cells (Dayton, Ohio) 71 25183173
2010 CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome. Human molecular genetics 68 20453063
2008 Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. American journal of medical genetics. Part A 67 18074359
2007 Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability. Clinical genetics 66 17661815
2012 Role of Chd7 in zebrafish: a model for CHARGE syndrome. PloS one 65 22363697
2014 Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. Proceedings of the National Academy of Sciences of the United States of America 62 25472840
2013 CHD7 and retinoic acid signaling cooperate to regulate neural stem cell and inner ear development in mouse models of CHARGE syndrome. Human molecular genetics 59 24026680
2022 CHD7 regulates bone-fat balance by suppressing PPAR-γ signaling. Nature communications 58 35418650
2017 The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression. The Journal of clinical investigation 58 28165338
2012 Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations. PloS one 56 22724017
2017 The ATP-dependent chromatin remodeling enzymes CHD6, CHD7, and CHD8 exhibit distinct nucleosome binding and remodeling activities. The Journal of biological chemistry 55 28533432
2013 The cardiac phenotype in patients with a CHD7 mutation. Circulation. Cardiovascular genetics 55 23677905
2012 The novel long non-coding RNA CRG regulates Drosophila locomotor behavior. Nucleic acids research 52 23074190
2008 CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome. Clinical genetics 51 18445044
2010 Mutations in the CHD7 gene: the experience of a commercial laboratory. Genetic testing and molecular biomarkers 44 21158681
2007 Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions. Genetics in medicine : official journal of the American College of Medical Genetics 44 18073582
2022 CHD7 regulates otic lineage specification and hair cell differentiation in human inner ear organoids. Nature communications 39 36396635
2017 Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants. Genetics in medicine : official journal of the American College of Medical Genetics 39 29144511
2014 The chromatin remodeling protein CHD7, mutated in CHARGE syndrome, is necessary for proper craniofacial and tracheal development. Developmental dynamics : an official publication of the American Association of Anatomists 39 24975120
2021 CHARGE syndrome protein CHD7 regulates epigenomic activation of enhancers in granule cell precursors and gyrification of the cerebellum. Nature communications 38 34588434
2020 CHD7 regulates cardiovascular development through ATP-dependent and -independent activities. Proceedings of the National Academy of Sciences of the United States of America 38 33127760
2020 CHD7 and 53BP1 regulate distinct pathways for the re-ligation of DNA double-strand breaks. Nature communications 38 33188175
2014 CHD7 expression predicts survival outcomes in patients with resected pancreatic cancer. Cancer research 36 24626090
2018 Chd7 Is Critical for Early T-Cell Development and Thymus Organogenesis in Zebrafish. The American journal of pathology 35 29353058
2016 CHD7 promotes proliferation of neural stem cells mediated by MIF. Molecular brain 34 27955690
2011 Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndrome. Hearing research 34 21875659
2013 Knockdown of fbxl10/kdm2bb rescues chd7 morphant phenotype in a zebrafish model of CHARGE syndrome. Developmental biology 33 23920116
2017 Reproductive endocrine phenotypes relating to CHD7 mutations in humans. American journal of medical genetics. Part C, Seminars in medical genetics 32 29152903
2011 The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Molecular and cellular endocrinology 32 21856375
2018 Chromatin remodeler CHD7 regulates the stem cell identity of human neural progenitors. Genes & development 31 29440260
2017 Chd7 Collaborates with Sox2 to Regulate Activation of Oligodendrocyte Precursor Cells after Spinal Cord Injury. The Journal of neuroscience : the official journal of the Society for Neuroscience 31 28931573
2015 A critical role for the chromatin remodeller CHD7 in anterior mesoderm during cardiovascular development. Developmental biology 31 26102480
1995 Regulatory mechanisms of MuRantes and CRG-2 chemokine gene induction in central nervous system glial cells by virus. Brain, behavior, and immunity 31 8903850
2001 Primary hepatocytes from mice treated with IL-2/IL-12 produce T cell chemoattractant activity that is dependent on monokine induced by IFN-gamma (Mig) and chemokine responsive to gamma-2 (Crg-2). Journal of immunology (Baltimore, Md. : 1950) 29 11238618
2019 Stem Cell Proliferation Is Kept in Check by the Chromatin Regulators Kismet/CHD7/CHD8 and Trr/MLL3/4. Developmental cell 28 31112698
2011 CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome. PloS one 28 21931733
2019 Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes. American journal of medical genetics. Part C, Seminars in medical genetics 27 31833191
2018 CHD7 represses the retinoic acid synthesis enzyme ALDH1A3 during inner ear development. JCI insight 27 29467333
2017 Genotranscriptomic meta-analysis of the CHD family chromatin remodelers in human cancers - initial evidence of an oncogenic role for CHD7. Molecular oncology 27 28649742
2017 Convergence of BMI1 and CHD7 on ERK Signaling in Medulloblastoma. Cell reports 27 29212025
2008 Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome. European journal of medical genetics 27 18472328
2006 CHD7 gene and non-syndromic cleft lip and palate. American journal of medical genetics. Part A 26 16763960
2017 Chd7 deficiency delays leukemogenesis in mice induced by Cbfb-MYH11. Blood 25 29018080
2017 Versatile Roles of the Chromatin Remodeler CHD7 during Brain Development and Disease. Frontiers in molecular neuroscience 25 29033785
2016 CHD7, Oct3/4, Sox2, and Nanog control FoxD3 expression during mouse neural crest-derived stem cell formation. The FEBS journal 25 27579714
2012 The mutation in Chd7 causes misexpression of Bmp4 and developmental defects in telencephalic midline. The American journal of pathology 24 22658483
2019 High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism. Scientific reports 23 30733481
2020 GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A Genes in a Case Series and Review of the Literature. Frontiers in endocrinology 22 32982993
2018 Differentiation potential of Pluripotent Stem Cells correlates to the level of CHD7. Scientific reports 22 29321579
2012 Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex. PloS one 22 23285124
2021 Chromatin remodeller CHD7 is required for GABAergic neuron development by promoting PAQR3 expression. EMBO reports 21 33900016
2019 CHD7 promotes glioblastoma cell motility and invasiveness through transcriptional modulation of an invasion signature. Scientific reports 21 30850678
2017 Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome. American journal of medical genetics. Part C, Seminars in medical genetics 21 29168327
2020 CHD7 and Runx1 interaction provides a braking mechanism for hematopoietic differentiation. Proceedings of the National Academy of Sciences of the United States of America 20 32883883
2017 Clinical and molecular effects of CHD7 in the heart. American journal of medical genetics. Part C, Seminars in medical genetics 20 29088513
2011 Chd7 plays a critical role in controlling left-right symmetry during zebrafish somitogenesis. Developmental dynamics : an official publication of the American Association of Anatomists 19 21901784
2020 CHD7 Regulates Osteogenic Differentiation of Human Dental Follicle Cells via PTH1R Signaling. Stem cells international 18 33014071
2011 CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin. Clinical genetics 18 21554267
2020 let-7 miRNAs inhibit CHD7 expression and control auditory-sensory progenitor cell behavior in the developing inner ear. Development (Cambridge, England) 17 32816902
2014 CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 17 24979395
2008 A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features. Clinical dysmorphology 17 18978652
2003 Identification and characterization of CRG-L2, a new marker for liver tumor development. Oncogene 16 12642876
2016 Chromatin remodeling enzyme CHD7 is necessary for osteogenesis of human mesenchymal stem cells. Biochemical and biophysical research communications 15 27586276
2011 Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosis. The Journal of molecular diagnostics : JMD 15 22033296
2021 An Intronic Variant of CHD7 Identified in Autism Patients Interferes with Neuronal Differentiation and Development. Neuroscience bulletin 14 33948885
2020 Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia. PloS one 14 32502225
2021 Genetic Variants of CHD7 Are Associated with Adolescent Idiopathic Scoliosis. Spine 13 33290368
2021 The chromatin remodelling factor Chd7 protects auditory neurons and sensory hair cells from stress-induced degeneration. Communications biology 13 34732824
2020 CHD7 gene polymorphisms in female patients with idiopathic scoliosis. BMC musculoskeletal disorders 13 31924193
2014 Epistatic interactions between Chd7 and Fgf8 during cerebellar development: Implications for CHARGE syndrome. Rare diseases (Austin, Tex.) 13 25054096
2014 A novel CHD7 mutation in a Chinese patient with CHARGE syndrome. Meta gene 13 25606431
2000 Crg, a gene required for Ur-3-mediated rust resistance in common bean, maps to a resistance gene analog cluster. Molecular plant-microbe interactions : MPMI 12 11059490
2024 CHD7 and SOX2 act in a common gene regulatory network during mammalian semicircular canal and cochlear development. Proceedings of the National Academy of Sciences of the United States of America 11 38408234

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