Affinage

DYNC1H1

Cytoplasmic dynein 1 heavy chain 1 · UniProt Q14204

Length
4646 aa
Mass
532.4 kDa
Annotated
2026-06-09
71 papers in source corpus 16 papers cited in narrative 16 extracted findings
Cross-family judge vs UniProt: tie faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

DYNC1H1 encodes the heavy chain of cytoplasmic dynein-1, the minus-end-directed microtubule motor whose mechanochemical and processive activities drive retrograde transport of organelles, vesicles, and signaling endosomes (PMID:28196890, PMID:24755273). Single-molecule reconstitution of recombinant human dynein resolves two classes of disease mutation: motor/stalk-domain substitutions (R1962C, H3822P) that cripple the core mechanochemical cycle, and mutations that selectively impair the processive movement activated by binding to dynactin and the cargo adaptor BICD2 without abolishing that binding (PMID:28196890). Tail-domain mutations act dominantly to destabilize the dynein complex and can increase adaptor engagement with BICD2 (PMID:22459677, PMID:25512093). Functionally, dynein is required for retrograde axonal transport of NGF, EGF, and BDNF signaling endosomes and mitochondria; the Loa mutation slows this movement and rewires downstream ERK1/2 and c-Fos signaling in motor neurons, while transport deficits drive neuronal apoptosis and delayed recovery from peripheral nerve injury (PMID:24755273, PMID:27080913, PMID:36218033). In the developing cortex, motor-domain function is essential for proliferation, exit of postmitotic neuroblasts from the subventricular zone, and radial migration, and patient-specific motor-domain knock-ins produce neuronal heterotopia and disordered dendritic orientation (PMID:39025270, PMID:28395088). In photoreceptors, dynein supports nuclear positioning, outer-segment morphogenesis, and vesicular trafficking of phototransduction proteins; its loss causes protein mislocalization and apoptosis via the BiP-ATF4-CHOP ER-stress axis (PMID:20412557, PMID:33705456, PMID:39946138). DYNC1H1 mutations cause malformations of cortical development and spinal muscular atrophy with lower-extremity predominance (SMALED) (PMID:23603762, PMID:25512093).

Mechanistic history

Synthesis pass · year-by-year structured walk · 10 steps
  1. 2010 High

    Establishing whether the dynein heavy chain functions beyond microtubule transport, work in C. elegans and zebrafish showed it is required for actin cytoskeleton integrity and for photoreceptor organelle positioning and post-Golgi trafficking.

    Evidence C. elegans dhc-1/lis-1 genetic epistasis with RNAi suppressor screen; zebrafish nonsense mutant with TEM and immunolocalization

    PMID:20412557 PMID:20554764

    Open questions at the time
    • Mechanism linking dynein activity to actin integrity not resolved
    • Dynactin-independent outer-segment function inferred but biochemically uncharacterized
  2. 2011 Low

    Linking DYNC1H1 to human disease, exome sequencing placed a pathogenic mutation in the homodimerization domain, implicating this region in axonal maintenance.

    Evidence Exome/Sanger sequencing, cosegregation and conservation analysis, mouse model correlation

    PMID:21820100

    Open questions at the time
    • No direct biochemical assay of homodimerization
    • Later work found Swl/Loa/Cra mutations do not affect homodimerization, complicating the model
  3. 2012 Medium

    To determine how tail-domain mutations act, dynein purified from patient fibroblasts showed a dominant I584L mutation destabilizes the dynein complex, establishing a gain-of-disruption mechanism.

    Evidence Biochemical purification and functional assay of dynein from patient fibroblasts; clinical genetics cross-referencing LIS1 interaction

    PMID:22368300 PMID:22459677

    Open questions at the time
    • LIS1 interaction inferred from prior literature, not directly tested here
    • Quantitative structural basis of complex destabilization unresolved
  4. 2013 Medium

    Functional testing of patient-derived cortical malformation mutations demonstrated they affect microtubule binding of the heavy chain, connecting genotype to a defined molecular defect.

    Evidence Microtubule-binding functional assays on patient mutations

    PMID:23603762

    Open questions at the time
    • Quantitative binding kinetics not detailed
    • Single lab
  5. 2014 High

    Addressing how mutations translate to neuronal dysfunction, the Loa mutation was shown to slow retrograde signaling-endosome transport and to rewire downstream ERK1/2/c-Fos signaling, and other mutations to impair Golgi reassembly.

    Evidence Live-cell endosome imaging plus ERK1/2/c-Fos biochemistry in mutant mouse cells; Golgi recovery after nocodazole washout in patient fibroblasts

    PMID:24307404 PMID:24755273

    Open questions at the time
    • How transport velocity changes alter signaling kinetics not fully defined
    • Cell-type specificity of the ERK1/2 response incompletely explained
  6. 2015 Medium

    To explain the SMALED phenotype shared with BICD2 mutations, tail-domain mutations were shown to increase DYNC1H1 interaction with the BICD2 adaptor.

    Evidence Binding/interaction assays between mutant DYNC1H1 and BICD2

    PMID:25512093

    Open questions at the time
    • Functional consequence of increased BICD2 binding on transport not measured here
    • Single lab
  7. 2016 Medium

    Distinguishing transport defects from dimerization defects, the Sprawling mutation was shown to impair retrograde NGF and mitochondrial transport and drive DRG apoptosis while leaving homodimerization intact.

    Evidence Live-cell retrograde transport imaging, apoptosis and homodimerization assays in mutant DRG neurons

    PMID:27080913

    Open questions at the time
    • Mechanism connecting transport deficit to apoptosis not defined
    • Single lab
  8. 2017 High

    Systematically classifying disease mutations, reconstituted recombinant human dynein with single-molecule assays separated mutations into those breaking core mechanochemistry versus those selectively compromising dynactin/BICD2-activated processivity, with motility defects correlating with cortical malformation severity.

    Evidence Recombinant human dynein, single-molecule in vitro motility assays, dynactin/BICD2 binding assays (14 mutations); fetal brain neuropathology for two motor-domain mutations

    PMID:28196890 PMID:28395088

    Open questions at the time
    • In vitro motility may not capture all cellular adaptor contexts
    • Genotype-phenotype correlation correlative, not causal at organismal level
  9. 2022 High

    Testing physiological dynein dosage in neurons, conditional heterozygous deletion confirmed motor-dependent length sensing and showed that reduced retrograde injury-signal delivery delays nerve regeneration.

    Evidence Isl1-Cre conditional knockout mouse, neuronal growth assays, behavioral phenotyping, nerve injury model

    PMID:36218033

    Open questions at the time
    • Identity of the retrograde injury signal not defined
    • Length-sensing molecular mechanism remains a model
  10. 2025 High

    Defining the cell-death pathway downstream of transport failure, motor-domain knock-in and zebrafish loss-of-function models established that dynein deficits cause cortical migration heterotopia and trigger photoreceptor apoptosis through the BiP-ATF4-CHOP ER-stress axis.

    Evidence Patient-specific P3018S knock-in mouse with layer-specific markers; dync1h1-deficient zebrafish with RNA-seq and ER-stress/apoptosis pathway validation; photoreceptor conditional knockout mouse

    PMID:33705456 PMID:39025270 PMID:39946138

    Open questions at the time
    • How impaired transport initiates BiP-ATF4-CHOP signaling not mechanistically resolved
    • Whether ER stress contributes to neuronal (vs photoreceptor) phenotypes untested

Open questions

Synthesis pass · forward-looking unresolved questions
  • How distinct DYNC1H1 mutation classes (core mechanochemical vs adaptor-activated processivity vs tail/complex-stability) map onto the divergent clinical spectrum of cortical malformation, motor neuron, and sensory disease remains unresolved.
  • No unified model linking specific biochemical defect to specific tissue phenotype
  • Cargo-adaptor selectivity for different cargo types incompletely mapped
  • Structural basis of tail-mutation complex destabilization unresolved

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0003774 cytoskeletal motor activity 2 GO:0008092 cytoskeletal protein binding 1 GO:0140657 ATP-dependent activity 1
Localization
GO:0005794 Golgi apparatus 2 GO:0005856 cytoskeleton 2 GO:0005929 cilium 2
Pathway
GO:0005215 transporter activity 2 R-HSA-1266738 Developmental Biology 2 R-HSA-5357801 Programmed Cell Death 2 R-HSA-9609507 Protein localization 2 R-HSA-8953897 Cellular responses to stimuli 1
Partners
BICD2DCTN1LIS1
Complex memberships
cytoplasmic dynein-1dynein-dynactin complex

Evidence

Reading pass · 16 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2013 DYNC1H1 mutations affect microtubule binding of the cytoplasmic dynein heavy chain, as demonstrated by functional assays on patient-derived mutations causing malformations of cortical development. Functional assay on patient-derived mutations (microtubule binding assay) Nature genetics Medium 23603762
2011 DYNC1H1 p.His306Arg mutation resides in the homodimerization domain, identifying this domain as critical for dynein function in axonal maintenance; the same domain is mutated in mouse models with age-related progressive motor neuron loss. Exome sequencing, Sanger sequencing, cosegregation analysis, conservation analysis American journal of human genetics Low 21820100
2012 A tail-domain mutation (I584L) in DYNC1H1 dominantly disrupts dynein complex stability and function, as demonstrated by biochemical analysis of dynein purified from patient-derived fibroblasts. Biochemical analysis (dynein purification and functional assay) from patient fibroblasts Neurology Medium 22459677
2012 DYNC1H1 interacts with LIS1 (encoded by LIS1 gene), and haploinsufficiency of LIS1 causes lissencephaly; DYNC1H1 mutations cause neuronal migration defects consistent with this interaction. Clinical genetics, literature cross-reference to known LIS1-dynein interaction Journal of medical genetics Low 22368300
2017 Fourteen DYNC1H1 mutations associated with neurological disease (MCD or SMALED) were functionally characterized using recombinant human dynein in single-molecule in vitro motility assays. Two mutations (R1962C and H3822P) strongly interfere with dynein's core mechanochemical properties. The remaining mutations selectively compromise the processive mode of dynein movement activated by binding to dynactin and the cargo adaptor BICD2, without affecting binding of dynein to dynactin and BICD2. Mutations with strongest effects on motility correlate with MCD severity. Recombinant expression of human dynein, single-molecule in vitro motility assays, binding assays with dynactin and BICD2 Proceedings of the National Academy of Sciences of the United States of America High 28196890
2010 Loss of cytoplasmic dynein heavy chain 1 (dync1h1) in zebrafish photoreceptors causes defects in organelle positioning, outer segment morphogenesis, and post-Golgi vesicle trafficking; Dynein1 and Dynactin subunits localize to the ciliary axoneme of the outer segment as well as the inner segment. Dynactin knockdown only affected inner segment processes, suggesting Dynactin-independent Dynein1 function in outer segments. Zebrafish nonsense mutant analysis, transmission electron microscopy, marker analysis, immunolocalization, antisense oligonucleotide knockdown Neural development High 20412557
2015 DYNC1H1 tail domain mutations (p.Arg598Cys and p.Arg264Leu) increase the interaction of DYNC1H1 with its adaptor BICD2, linking DYNC1H1 tail mutations to the SMALED phenotype also caused by BICD2 mutations. Binding/interaction assay between mutant DYNC1H1 and BICD2 Human mutation Medium 25512093
2014 DYNC1H1 mutations (p.Gln1194Arg and p.Glu3048Lys) are deleterious to protein function as demonstrated by impaired Golgi recovery after nocodazole washout in patient fibroblasts, establishing a role for DYNC1H1 in Golgi apparatus reassembly/vesicle trafficking. Golgi recovery assay after nocodazole washout in patient-derived fibroblasts Human mutation Medium 24307404
2014 The Loa (F580Y) DYNC1H1 mutation reduces the velocity of dynein-dependent minus-end movement of EGF and BDNF signaling endosomes in embryonic fibroblasts and motor neurons, and increases the number of plus-end moving endosomes. This results in altered ERK1/2 activation and c-Fos expression, with a cell-type-specific abnormal ERK1/2 and c-Fos response to stress in motor neurons. Live-cell imaging of endosome transport, biochemical assays for ERK1/2 activation and c-Fos expression in mutant mouse fibroblasts and motor neurons Brain : a journal of neurology High 24755273
2016 The Sprawling (Swl) nine-base-pair deletion mutation in DYNC1H1 impairs retrograde axonal transport of NGF and mitochondria in dorsal root ganglion neurons, and causes excessive DRG neuron apoptosis during development. The Swl, Loa, and Cra mutations do not affect DYNC1H1 homodimerization. In vitro live-cell imaging of retrograde transport in mutant DRG neurons, apoptosis assays, homodimerization assay CNS neuroscience & therapeutics Medium 27080913
2021 Conditional deletion of DYNC1H1 in photoreceptors (Six3Cre-mediated truncation removing motor and microtubule-binding domain) causes rapid photoreceptor degeneration within two postnatal weeks, with disorganized nuclear layers, aggregation of rhodopsin, PDE6, and centrin-2 with DYNC1H1 remnants, and defective vesicular trafficking of photoreceptor membrane proteins, demonstrating that cytoplasmic dynein is essential for retinal lamination, nuclear positioning, and inner/outer segment elaboration. Conditional knockout mouse (floxed allele, Six3Cre), immunofluorescence, histology PloS one High 33705456
2022 Conditional heterozygous deletion of Dync1h1 exons 24-25 in motor and sensory neurons (Isl1-Cre) reduces dynein expression by ~50% and causes accelerated sensory neuron growth (consistent with a motor-dependent length-sensing mechanism), mild gait/proprioception impairment, and delayed recovery from peripheral nerve injury due to reduced retrograde injury signal delivery. Conditional knockout mouse model, neuronal growth assays, behavioral phenotyping, nerve injury model Journal of cell science High 36218033
2025 Loss of dync1h1 in zebrafish impairs retrograde axonal transport, leading to cilium biogenesis defects and transport disorder of phototransduction proteins in photoreceptors, triggering ER stress via the BiP-ATF4-CHOP signaling pathway and resulting in photoreceptor apoptosis. dync1h1-deficient zebrafish, histological analysis, RNA sequencing, validation of ER stress and apoptosis pathways in vivo Investigative ophthalmology & visual science High 39946138
2010 In C. elegans, dhc-1 (dynein heavy chain ortholog) and lis-1 are both required for actin cytoskeleton integrity; a double mutant of dhc-1(or195ts) and lis-1 suppresses actin cytoskeleton disruption and embryonic lethality. An RNAi screen showed knockdown of actin-capping protein genes and prefoldin subunit genes also suppresses dhc-1(or195ts)-induced lethality, revealing an unexpected interaction between dynein activity and the actin cytoskeleton. C. elegans genetic epistasis (double mutant suppressor), targeted RNAi screen, actin cytoskeleton integrity assay Molecular biology of the cell High 20554764
2024 Patient-specific knock-in of P3018S (ATPase motor domain mutation) in heterozygous mice causes neuronal migration abnormalities in neocortex with heterotopia in layer I, with misplaced CUX1+ (layer II/III) and CTGF+ (layer VI) neurons, and abnormal MAP2+ dendrite orientation in pyramidal neurons, establishing a direct role for the DYNC1H1 motor domain in cortical neuronal migration and dendritic orientation. Knock-in mouse model, immunofluorescence with layer-specific markers (CUX1, CTGF, MAP2), neurobehavioral testing Neurobiology of disease High 39025270
2017 Neuropathological analysis of fetal brain with DYNC1H1 motor domain mutations (p.Arg2720Lys and p.Val3951Ala) showed immunohistochemical evidence of defects in cell proliferation and failure of postmitotic neuroblasts to exit the subventricular zone, resulting in failure of radial migration toward the cortical plate. Neuropathological analysis, immunohistochemistry on fetal brain tissue, structural modeling on Dictyostelium dynein crystal structure Journal of neuropathology and experimental neurology Medium 28395088

Source papers

Stage 0 corpus · 71 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2013 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nature genetics 367 23603762
2011 Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. American journal of human genetics 218 21820100
2012 Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology 170 22459677
2012 Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. Journal of medical genetics 145 22368300
2005 High-resolution map and imprinting analysis of the Gtl2-Dnchc1 domain on mouse chromosome 12. Genomics 103 16309881
2017 DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein-dynactin-cargo adaptor complexes. Proceedings of the National Academy of Sciences of the United States of America 102 28196890
2015 Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy. Neurology 100 25609763
1997 The Chlamydomonas Dhc1 gene encodes a dynein heavy chain subunit required for assembly of the I1 inner arm complex. Molecular biology of the cell 76 9247642
2014 Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development. Human mutation 74 24307404
2012 A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance. Neurogenetics 62 22847149
2010 Analysis of a zebrafish dync1h1 mutant reveals multiple functions for cytoplasmic dynein 1 during retinal photoreceptor development. Neural development 55 20412557
2015 Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1. Journal of neurology 54 26100331
2020 The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification. Journal of human genetics 42 32788638
2020 DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants. American journal of medical genetics. Part A 38 32656949
2015 Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies. Human mutation 33 25512093
2017 Expanding the phenotypic spectrum associated with mutations of DYNC1H1. Neuromuscular disorders : NMD 29 28554554
2017 Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies. Scientific reports 28 28325891
2014 Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance. Pediatric neurology 28 25484024
2018 A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality. Neuromuscular disorders : NMD 22 30122514
2016 A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract. Meta gene 21 27331017
2015 A novel DYNC1H1 mutation causing spinal muscular atrophy with lower extremity predominance. Neurology. Genetics 21 27066557
2003 No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders. Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases 20 13129801
2017 Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations. Journal of neuropathology and experimental neurology 19 28395088
2016 Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient. Genes 19 27754416
2016 Identification of a de novo DYNC1H1 mutation via WES according to published guidelines. Scientific reports 18 26846447
2016 Dync1h1 Mutation Causes Proprioceptive Sensory Neuron Loss and Impaired Retrograde Axonal Transport of Dorsal Root Ganglion Neurons. CNS neuroscience & therapeutics 18 27080913
2014 DYNC1H1 mutation alters transport kinetics and ERK1/2-cFos signalling in a mouse model of distal spinal muscular atrophy. Brain : a journal of neurology 18 24755273
2025 The expanding clinical and genetic spectrum of DYNC1H1-related disorders. Brain : a journal of neurology 17 38848546
2021 Effect of conditional deletion of cytoplasmic dynein heavy chain DYNC1H1 on postnatal photoreceptors. PloS one 16 33705456
2017 Computational prediction and analysis of deleterious cancer associated missense mutations in DYNC1H1. Molecular and cellular probes 15 28455235
2022 A novel variant in DYNC1H1 could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrum. Cold Spring Harbor molecular case studies 13 34535505
2020 Could microtubule inhibitors be the best choice of therapy in gastric cancer with high immune activity: mutant DYNC1H1 as a biomarker. Aging 13 33221769
2022 De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations. Molecular genetics & genomic medicine 12 35099838
2021 DYNC1H1 regulates NSCLC cell growth and metastasis by IFN-γ-JAK-STAT signaling and is associated with an aberrant immune response. Experimental cell research 12 34717919
2022 Expanding the Phenotypic and Genetic Spectrum of Neuromuscular Diseases Caused by DYNC1H1 Mutations. Frontiers in neurology 11 35899263
2018 DYNC1H1 gene methylation correlates with severity of spinal muscular atrophy. Annals of human genetics 11 30246859
2017 A missense mutation in DYNC1H1 gene causing spinal muscular atrophy - Lower extremity, dominant. Neurologia i neurochirurgia polska 11 29306600
2021 Two cases of DYNC1H1 mutations with intractable epilepsy. Brain & development 9 34092403
2016 Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development. Journal of child neurology 9 28193117
2010 Regulators of the actin cytoskeleton mediate lethality in a Caenorhabditis elegans dhc-1 mutant. Molecular biology of the cell 9 20554764
2006 No association of DYNC1H1 with sporadic ALS in a case-control study of a northern European derived population: a tagging SNP approach. Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 8 16546759
2020 A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies. European journal of medical genetics 7 32947049
2024 Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants. Epilepsia 6 38953796
2021 De Novo Variants in the DYNC1H1 Gene Associated With Infantile Spasms. Frontiers in neurology 6 34803881
2020 Novel poly (ADP-ribose) polymerases inhibitor DHC-1 exhibits in vitro and in vivo anticancer activity on BRCA-deficient pancreatic cancer cells. Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association 6 33271260
2023 Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation. BMC medical genomics 5 36882741
2023 Case report: Genotype and phenotype of DYNC1H1-related malformations of cortical development: a case report and literature review. Frontiers in neurology 5 37181555
2017 A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa. Clinical genetics 5 29243232
2024 Patient-specific mutation of Dync1h1 in mice causes brain and behavioral deficits. Neurobiology of disease 4 39025270
2022 A conditional null allele of Dync1h1 enables targeted analyses of dynein roles in neuronal length sensing. Journal of cell science 4 36218033
2024 Multidisciplinary approach on divergent outcomes in spinal muscular atrophies: comparing DYNC1H1 and SMN1 gene mutations. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 3 38806879
2023 DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders. Seizure 3 37903666
2021 Lidocaine has antitumor effect on hepatocellular carcinoma via the circ_DYNC1H1/miR-520a-3p/USP14 axis. Open life sciences 3 34435133
2025 Effect of Dync1h1 on Phototransduction Protein Transport and the Development and Maintenance of Photoreceptor Cells in Zebrafish. Investigative ophthalmology & visual science 2 39946138
2024 Loss of Dnah5 Downregulates Dync1h1 Expression, Causing Cortical Development Disorders and Congenital Hydrocephalus. Cells 2 39594631
2021 Association of DYNC1H1 gene SNP/CNV with disease susceptibility, GCs efficacy, HRQOL, anxiety, and depression in Chinese SLE patients. Journal of clinical laboratory analysis 2 34272765
2021 Missense mutation in DYNC1H1 gene caused psychomotor developmental delay and muscle weakness: A case report. World journal of clinical cases 2 34786417
2025 Altered Metabolism in Heterozygous Mice With a Mutation in the Motor Domain of Cytoplasmic Dynein, DYNC1H1 (AAA4; c9052C>T(P3018S)). Proteomics 1 40766986
2025 KLF1 Promotes Non-Small Cell Lung Cancer Cell Proliferation and Invasion by Upregulating the LINC02159/DYNC1H1 Pathway. The Kaohsiung journal of medical sciences 1 40798857
2024 Anatomo-Electro-Clinical Phenotypes in Children With Epilepsy and DYNC1H1 Mutations. Pediatric neurology 1 39631264
2022 Ocular manifestations in a 2 year-old patient with a DYNC1H1 mutation. Ophthalmic genetics 1 36537327
2026 Generation of iPSC line NIMHi033-A from an Indian patient with Autism Spectrum Disorder carrying mutation in DYNC1H1 gene. Stem cell research 0 42056834
2026 Gene-specific long-term course, neurodevelopmental outcome and quality of life in patients with LIS1/PAFAH1B1-, DCX-, DYNC1H1-, TUBA1A- and TUBG1-related lissencephaly. Orphanet journal of rare diseases 0 42177523
2026 FOSL2 drives transcriptional activation of super‑enhancer-regulated DYNC1H1 to promote hypoxia‑induced oral squamous cell carcinoma progression. Molecular medicine reports 0 42212377
2025 [A variant of p.Arg1623Gln of the DYNC1H1 gene in a patient with corpus callosum agenesis, polydactyly, mental development disorder, and neuromuscular system disorders]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 0 40047846
2025 Analysis of the DYNC1H1 Gene Polymorphic Variants' Association with ASD Occurrence and Clinical Phenotype of Affected Children. Genes 0 40428333
2025 A novel mutation in the DYNC1H1 gene causing developmental and epileptic encephalopathy treated with ketogenic diet: A case report. Medicine 0 40660528
2025 DYNC1H1 in Spinal Muscular Atrophy: Diagnostic Findings From Two Families and a Comprehensive Review of Its Role in Neuromuscular and Neurodevelopmental Disorders. Molecular genetics & genomic medicine 0 41424373
2025 Expanding the clinical phenotype of DYNC1H1 -associated mutations: a Chinese family with autosomal dominant complex hereditary spastic paraplegia. BMC medical genomics 0 41430681
2023 [Analysis of 4 children with DYNC1H1 gene related spinal muscular atrophy with lower extremity predominant 1]. Zhonghua er ke za zhi = Chinese journal of pediatrics 0 36720598
2023 Expanding the phenotype of DYNC1H1-associated diseases with a rare variant resulting in spinal muscular atrophy with lower extremity predominance (SMA-LED) and upper motor neuron signs. The Turkish journal of pediatrics 0 37395972

Missed literature

Know a paper Affinage missed for DYNC1H1? Flag it for the maintainers and the community.

No submissions yet.