Affinage

FRMD7

FERM domain-containing protein 7 · UniProt Q6ZUT3

Length
714 aa
Mass
81.6 kDa
Annotated
2026-06-09
65 papers in source corpus 14 papers cited in narrative 15 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 5/5 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

FRMD7 is a FERM-domain protein with restricted expression in the developing brainstem and neural retina that controls eye-movement stability and the establishment of asymmetric retinal circuits, and whose loss-of-function mutations cause X-linked idiopathic infantile nystagmus (PMID:17013395, PMID:26711119). In the retina, FRMD7 is expressed selectively in starburst amacrine cells and is required to establish the asymmetric inhibitory input to horizontal direction-selective ganglion cells; its loss produces a transition to symmetric input, abolishing horizontal direction selectivity and the horizontal optokinetic reflex (PMID:26711119, PMID:33007925). At the cellular level, FRMD7 promotes neurite outgrowth by modulating cytoskeletal dynamics, acting through Rho-family GTPase signaling including Rac1 and influencing F-actin together with microtubule/neurofilament gene programs (PMID:19892780, PMID:23946638, PMID:22690121, PMID:31743612). FRMD7 localizes to the cytoplasm via its C-terminus and directly binds the plasma-membrane scaffold CASK, co-localizing at the membrane to support neurite extension (PMID:23406872, PMID:21386928); it also interacts with the GABA-A receptor subunit GABRA2 to regulate inhibitory receptor transport and localization (PMID:32446246). Disease-associated mutations impair CASK and GABRA2 binding, mislocalize FRMD7 to the nucleus, and destabilize truncated proteins through proteasomal degradation (PMID:23406872, PMID:32446246, PMID:38279119).

Mechanistic history

Synthesis pass · year-by-year structured walk · 15 steps
  1. 2006 High

    Established FRMD7 as the causative gene for X-linked idiopathic congenital nystagmus and tied it to eye-movement control via its restricted developmental expression.

    Evidence Mutation screening of 26 families plus expression analysis in human embryonic brain and retina

    PMID:17013395

    Open questions at the time
    • No cellular function or molecular partners defined
    • No mechanism linking mutation to circuit defect
  2. 2009 High

    Assigned FRMD7 a cellular function in neuronal outgrowth, the first mechanistic link between gene loss and a neurodevelopmental phenotype.

    Evidence Developmental in situ hybridization/IHC and siRNA knockdown in NEURO2A cells with neurite readout

    PMID:19892780

    Open questions at the time
    • Molecular pathway driving neurite change unknown
    • No direct binding partners identified
  3. 2011 Medium

    Showed the C-terminus dictates cytoplasmic localization and F-actin association, and that truncating mutations drive nuclear mislocalization, providing a structural basis for pathogenicity.

    Evidence Confocal imaging of EGFP-FRMD7 constructs with phalloidin staining in Neuro-2a/HEK293T and fetal brain IHC

    PMID:21386928

    Open questions at the time
    • Mechanism of F-actin co-localization not defined
    • Functional consequence of nuclear localization not tested here
  4. 2011 Medium

    Identified two self-interacting FRMD7 isoforms, indicating an autoregulatory dimerization relationship affecting neurite development.

    Evidence Co-immunoprecipitation of HA-FRMD7-FL and Myc-FRMD7-S and neurite assay in NT2 cells

    PMID:22128244

    Open questions at the time
    • Physiological role of isoform interaction unclear
    • Single lab, no in vivo validation
  5. 2012 Medium

    Linked FRMD7 to both actin and microtubule/neurofilament cytoskeletal programs by showing gain-of-function upregulates neuronal cytoskeletal genes.

    Evidence Overexpression in retinoic-acid-differentiated Neuro-2a cells with qPCR (Mtap2, NF-L, NF-M) and F-actin imaging

    PMID:22690121

    Open questions at the time
    • Direct vs indirect transcriptional effect unresolved
    • No mechanistic link to a signaling cascade
  6. 2013 High

    Identified CASK as a direct membrane-scaffold partner and showed disease mutations on both FRMD7 and CASK disrupt the interaction, establishing a shared molecular axis for nystagmus.

    Evidence IP-MS, reciprocal Co-IP, localization and neurite assays with mutant analysis

    PMID:23406872

    Open questions at the time
    • Downstream effectors of CASK-FRMD7 complex unknown
    • In vivo relevance of complex not tested
  7. 2013 Medium

    Demonstrated that nuclear-mislocalizing mutants act dominant-negatively to inhibit neurite formation, defining a mechanism by which missense alleles disrupt function.

    Evidence Mutant overexpression, localization imaging and neurite assays in neuronal cells

    PMID:23406872

    Open questions at the time
    • Putative nuclear export sequence not mapped biochemically
    • Dominant-negative mechanism at protein level not defined
  8. 2013 Medium

    Connected FRMD7 to Rac1 GTPase signaling by showing a missense mutation reduces active Rac1, providing a molecular pathway for cytoskeletal control.

    Evidence GST-PAK2 pull-down of active Rac1 with FRMD7/Rac1 co-transfection in HEK293T

    PMID:23946638

    Open questions at the time
    • Single in vitro assay
    • Direct vs indirect effect on Rac1 not resolved
  9. 2015 High

    Localized FRMD7 to starburst amacrine cells and established its role in building retinal circuit asymmetry underlying the horizontal optokinetic reflex.

    Evidence Frmd7 mutant mouse electrophysiology, RGC recording, immunostaining and optomotor behavior

    PMID:26711119

    Open questions at the time
    • Molecular basis of asymmetric wiring not defined
    • Link between cellular neurite role and circuit asymmetry unresolved
  10. 2019 Medium

    Validated the FRMD7-Rho GTPase neurite axis in patient-derived human neurons, strengthening disease relevance beyond cell lines.

    Evidence Fibroblast-to-neuron reprogramming from mutation carriers with neurite complexity quantification and Rho GTPase western/qPCR

    PMID:31743612

    Open questions at the time
    • Causal direction between Rho GTPase upregulation and neurite defect unclear
    • Single lab
  11. 2019 Low

    Reinforced the FRMD7-CASK interaction's importance by showing a further missense mutation disrupts binding and neurite formation.

    Evidence Co-immunoprecipitation and neurite outgrowth assay with mutant overexpression

    PMID:30576400

    Open questions at the time
    • Single Co-IP without reciprocal validation
    • No independent replication
  12. 2020 Medium

    Identified GABRA2 as a direct partner and showed FRMD7 regulates GABA-A receptor transport, connecting FRMD7 to inhibitory neurotransmission consistent with retinal circuit defects.

    Evidence GST pull-down, Co-IP, localization imaging, and C. elegans frm-3 rescue with GABA-A receptor FRAP

    PMID:32446246

    Open questions at the time
    • Mechanism of receptor trafficking control undefined
    • Mammalian in vivo validation lacking
  13. 2020 High

    Independently confirmed the starburst-amacrine-specific role of FRMD7 in the horizontal optokinetic reflex with otherwise intact retinal structure and physiology.

    Evidence Frmd7 knockout mouse with eye-tracking, ERG, histology and expression analysis

    PMID:33007925

    Open questions at the time
    • Molecular events downstream of FRMD7 in starburst cells unknown
  14. 2024 Medium

    Defined proteasomal degradation of NMD-escaping truncated proteins as a loss-of-function pathogenic mechanism.

    Evidence Mutant FRMD7 expression constructs with qPCR, Western blot and proteasome inhibition

    PMID:38279119

    Open questions at the time
    • Ubiquitin ligase responsible not identified
    • In vivo confirmation absent
  15. 2025 Medium

    Showed a deletion causing exon 9-11 skipping disrupts protein stability and translation despite normal mRNA, expanding the spectrum of pathogenic mechanisms.

    Evidence Minigene splicing assay, RT-qPCR, Western blot and structural modeling

    PMID:41130545

    Open questions at the time
    • Functional consequence of the altered protein not tested in neurons
    • Structural model not experimentally validated

Open questions

Synthesis pass · forward-looking unresolved questions
  • How FRMD7's cellular roles (CASK binding, Rac1/Rho GTPase signaling, GABA-A receptor trafficking) mechanistically converge to establish asymmetric inhibitory wiring of starburst amacrine cells remains unresolved.
  • No direct link between molecular interactions and retinal circuit asymmetry
  • FERM-domain biochemical activity uncharacterized
  • Structural basis of partner binding undefined

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0008092 cytoskeletal protein binding 2 GO:0060090 molecular adaptor activity 2 GO:0098772 molecular function regulator activity 2
Localization
GO:0005634 nucleus 2 GO:0005829 cytosol 1 GO:0005886 plasma membrane 1
Pathway
R-HSA-112316 Neuronal System 2 R-HSA-1266738 Developmental Biology 2 R-HSA-162582 Signal Transduction 2
Partners
CASKGABRA2RAC1

Evidence

Reading pass · 15 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2006 FRMD7 is expressed in human embryonic brain and developing neural retina, with restricted spatiotemporal expression suggesting a specific role in the control of eye movement and gaze stability. Loss-of-function mutations cause X-linked idiopathic congenital nystagmus. Mutation screening (sequencing of 26 families), expression analysis in human embryonic tissues Nature genetics High 17013395
2009 FRMD7 expression is spatially and temporally regulated in human and mouse brain during embryonic/fetal development; knockdown of FRMD7 during neuronal differentiation of NEURO2A cells results in altered neurite development, establishing a role for FRMD7 in neuronal outgrowth. In situ hybridization, immunohistochemistry, siRNA knockdown in NEURO2A cells with neurite morphology readout, retinoic acid differentiation assay Human molecular genetics High 19892780
2013 FRMD7 directly interacts with CASK (calcium/calmodulin-dependent serine protein kinase), a plasma membrane scaffolding protein. CASK promotes FRMD7 co-localization at the plasma membrane and enhances CASK-induced neurite length. IIN-associated FRMD7 mutations impair CASK binding and plasma membrane co-localization. C-terminal CASK mutations that cause nystagmus in patients specifically disrupt interaction with FRMD7. Immunoprecipitation-mass spectrometry (IP-MS), co-immunoprecipitation, overexpression/localization studies, neurite outgrowth assay with mutant analysis Human molecular genetics High 23406872
2015 FRMD7 is specifically expressed in starburst amacrine cells in the retina. Mutation of FRMD7 leads to selective loss of horizontal optokinetic reflex and loss of horizontal direction selectivity in retinal ganglion cells, accompanied by transition from asymmetric to symmetric inhibitory input to horizontal direction-selective ganglion cells. FRMD7 is a key regulator for establishing neuronal circuit asymmetry in the retina. Frmd7 mutant mouse electrophysiology, retinal ganglion cell recording, immunostaining of retinal cell types, optomotor reflex behavioral testing Neuron High 26711119
2011 The C-terminus of FRMD7 is required for its cytoplasmic subcellular localization; a truncating mutation (c.1003C>T) causes nuclear localization and loss of co-localization with cytoplasmic F-actin. Missense mutations (c.781C>G and c.886G>C) do not alter F-actin co-localization. FRMD7 is expressed predominantly in the brainstem during fetal brain development. Confocal microscopy of EGFP-tagged FRMD7 constructs in Neuro-2a and HEK293T cells, rhodamine-phalloidin F-actin staining, immunohistochemistry of human fetal brain Molecular vision Medium 21386928
2013 IIN-associated missense mutants of FRMD7 have diverse effects on expression and cytoplasmic localization; the C271Y mutant accumulates in the nucleus, possibly due to disruption of a nuclear export sequence downstream of the FERM-adjacent domain. Wild-type FRMD7 overexpression promotes neurite outgrowth, whereas the C271Y nuclear-localizing mutant acts in a dominant-negative manner to inhibit neurite formation. Overexpression of mutant FRMD7 constructs in neuronal cells, subcellular localization imaging, neurite outgrowth assay Human molecular genetics Medium 23406872
2013 A novel FRMD7 missense mutation (c.635T>C, p.L212P) reduces activation of GTPase Rac1 signaling in HEK293T cells compared to wild-type FRMD7, as measured by GST-PAK2 pull-down of active Rac1, linking FRMD7 to Rac1/GTPase regulation of neurite development. GST-PAK2 affinity precipitation (pull-down) for active Rac1, co-transfection of FRMD7 (wild-type or mutant) with Rac1 in HEK293T cells Molecular vision Medium 23946638
2012 FRMD7 overexpression promotes neurite outgrowth and upregulates mRNA expression of neuronal cytoskeletal genes (Mtap2, NF-L, NF-M) in retinoic acid-differentiated Neuro-2a cells, indicating FRMD7 influences both F-actin and microtubule/neurofilament dynamics. Overexpression in Neuro-2a cells, quantitative real-time PCR for cytoskeletal genes, rhodamine-phalloidin F-actin staining, confocal neurite measurement Molecular vision Medium 22690121
2011 Two FRMD7 isoforms (FRMD7-FL and FRMD7-S, a splice variant with shortened exon 4) co-localize and directly interact with each other as shown by co-immunoprecipitation. Overexpression of FRMD7-FL in NT2 cells alters neurite development and upregulates FRMD7-S expression. Co-immunoprecipitation (HA-FRMD7-FL and Myc-FRMD7-S in NT2 cells), immunofluorescence co-localization, overexpression neurite assay Molecular vision Medium 22128244
2020 FRMD7 directly interacts with GABRA2 (the loop between transmembrane domains 3 and 4 of the GABA-A receptor subunit alpha-2), and IIN-associated FRMD7 mutations (p.Ala194Thr and p.Arg325Gly) exhibit decreased binding to GABRA2. A frameshift mutation (p.His333Glnfs*2) causes nuclear mislocalization of FRMD7. In frm-3 null C. elegans (the nematode FRMD7 homologue), FRMD7 mutants show impaired rescue of locomotion defects and reduced FRAP recovery of GABA-A receptors, suggesting FRMD7 regulates GABA-A receptor transport and localization. GST pull-down, co-immunoprecipitation, Western blotting, subcellular localization imaging, C. elegans rescue assay with FRAP of GABA-A receptors Investigative ophthalmology & visual science Medium 32446246
2019 FRMD7 mutations increase expression of the three main Rho GTPases and reduce complexity of neuronal processes (neurite length, number of terminals, maturation) in human fibroblast-reprogrammed neurons (iNs), establishing that FRMD7 influences Rho GTPase signaling in human neurons. Fibroblast-to-neuron reprogramming (iNs) from FRMD7 mutation carriers, quantification of neurite complexity and maturation, western blot/qPCR for Rho GTPases Brain and behavior Medium 31743612
2019 An IIN-associated FRMD7 missense mutation (p.K269Q) disrupts interaction between FRMD7 and CASK, and inhibits neurite formation and extension in neuronal cells. Co-immunoprecipitation, neurite outgrowth assay in neuronal cells with mutant overexpression Acta biochimica et biophysica Sinica Low 30576400
2020 Frmd7 knockout mice show gross retinal morphology and electrophysiology unchanged compared to wild-type, but exhibit a specific horizontal optokinetic reflex defect. FRMD7 expression in the retina is restricted to starburst amacrine cells, confirming its role in the optokinetic reflex mediated by these interneurons. Frmd7 knock-out mouse model, X-gal staining, antibody staining, high-speed eye-tracking, electroretinography, histology Genes High 33007925
2024 Two frameshift FRMD7 mutations (c.1492dupT and c.1616delG) produce truncated proteins that evade nonsense-mediated decay but are degraded via the proteasomal (ubiquitination) pathway, suggesting loss of FRMD7 protein function by proteasomal degradation as a pathogenic mechanism. Plasmid expression constructs with mutant FRMD7, qPCR for mRNA stability, Western blot for protein detection, proteasome inhibition assay BMC medical genomics Medium 38279119
2025 A novel FRMD7 deletion (c.742-211_1050+59del) causes skipping of exons 9-11, producing a mutant protein (FRMD7-m1) with unchanged mRNA levels but significantly upregulated protein expression and loss of a critical amino acid segment, disrupting protein translation and stability. Minigene splicing assay, RT-qPCR, Western blot, structural modeling Genomics Medium 41130545

Source papers

Stage 0 corpus · 65 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2006 Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nature genetics 148 17013395
2015 Congenital Nystagmus Gene FRMD7 Is Necessary for Establishing a Neuronal Circuit Asymmetry for Direction Selectivity. Neuron 116 26711119
2007 Nitration in neurodegeneration: deciphering the "Hows" "nYs". Biochemistry 85 17542619
2008 Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7. Brain : a journal of neurology 73 18372314
1999 A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3. American journal of human genetics 68 10090899
2009 The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development. Human molecular genetics 62 19892780
2014 Abnormal retinal development associated with FRMD7 mutations. Human molecular genetics 55 24688117
2013 A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus. Human molecular genetics 51 23406872
2011 The Role of FRMD7 in Idiopathic Infantile Nystagmus. Journal of ophthalmology 42 21904664
1988 A site-specific single strand endonuclease activity induced by NYs-1 virus infection of a Chlorella-like green alga. Nucleic acids research 41 3186439
2007 Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus. Molecular vision 39 17893669
2007 Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online. Human mutation 38 17397053
2007 Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus. Archives of ophthalmology (Chicago, Ill. : 1960) 37 17846367
2012 Incrimination of Anopheles (Anopheles) intermedius Peryassú, An. (Nyssorhynchus) nuneztovari Gabaldón, An. (Nys.) oswaldoi Peryassú as natural vectors of Plasmodium falciparum in French Guiana. Memorias do Instituto Oswaldo Cruz 34 22510842
2007 FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus. Molecular vision 31 17768376
2004 Cloning of CviPII nicking and modification system from chlorella virus NYs-1 and application of Nt.CviPII in random DNA amplification. Nucleic acids research 31 15570069
2008 Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus. Molecular vision 30 18431453
2015 Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus. Investigative ophthalmology & visual science 27 25678693
2008 A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family. Molecular vision 25 18246032
2008 A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus. Genetic testing 22 19072571
2007 Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene. The British journal of ophthalmology 20 17962394
2001 Clinical and genetic analysis of a family with X-linked congenital nystagmus (NYS1). Ophthalmic genetics 20 11803490
2018 Genotype and Phenotype Spectrum of FRMD7-Associated Infantile Nystagmus Syndrome. Investigative ophthalmology & visual science 18 30025138
2011 Expression and localization of FRMD7 in human fetal brain, and a role for F-actin. Molecular vision 17 21386928
2010 Novel intragenic FRMD7 deletion in a pedigree with congenital X-linked nystagmus. Ophthalmic genetics 17 20450309
2015 A start codon mutation of the FRMD7 gene in two Korean families with idiopathic infantile nystagmus. Scientific reports 16 26268155
2012 Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus. European journal of human genetics : EJHG 15 22490987
2007 X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7. Molecular vision 15 18087240
2013 A novel missense mutation in the FERM domain containing 7 (FRMD7) gene causing X-linked idiopathic congenital nystagmus in a Chinese family. Molecular vision 14 23946638
2011 A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family. Molecular vision 14 22065930
2014 Identification of three novel mutations in the FRMD7 gene for X-linked idiopathic congenital nystagmus. Scientific reports 13 24434814
2009 Frmd7 expression in developing mouse brain. Eye (London, England) 13 19265863
2017 Novel mutations of FRMD7 in Chinese patients with congenital motor nystagmus. Molecular medicine reports 12 28656292
2012 FERM domain containing protein 7 (FRMD7) upregulates the expression of neuronal cytoskeletal proteins and promotes neurite outgrowth in Neuro-2a cells. Molecular vision 12 22690121
2013 Identifcation of a novel mutation p.I240T in the FRMD7 gene in a family with congenital nystagmus. Scientific reports 11 24169426
2017 Clinical feature and waveform in infantile nystagmus syndrome in children with FRMD7 gene mutations. Science China. Life sciences 10 28623544
2020 FRMD7 Mutations Disrupt the Interaction with GABRA2 and May Result in Infantile Nystagmus Syndrome. Investigative ophthalmology & visual science 9 32446246
2015 A novel mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a North Indian family. Neuroscience letters 9 25916882
2012 A novel splicing mutation of the FRMD7 gene in a Chinese family with X-linked congenital nystagmus. Molecular vision 9 22262942
2011 Identification of a novel FRMD7 splice variant and functional analysis of two FRMD7 transcripts during human NT2 cell differentiation. Molecular vision 9 22128244
2022 Correlations of FRMD7 gene mutations with ocular oscillations. Scientific reports 8 35705619
2019 A Disease-Causing FRMD7 Variant in a Chinese Family with Infantile Nystagmus. Journal of molecular neuroscience : MN 7 30618027
2019 Nystagmus-related FRMD7 gene influences the maturation and complexities of neuronal processes in human neurons. Brain and behavior 7 31743612
2020 Characterization of the Frmd7 Knock-Out Mice Generated by the EUCOMM/COMP Repository as a Model for Idiopathic Infantile Nystagmus (IIN). Genes 6 33007925
2019 Next-generation sequencing identifies a novel frameshift variant in FRMD7 in a Chinese family with idiopathic infantile nystagmus. Journal of clinical laboratory analysis 6 31495972
2013 Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus. Journal of Zhejiang University. Science. B 6 23733424
2011 Prolonged pursuit by optokinetic drum testing in asymptomatic female carriers of novel FRMD7 splice mutation c.1050 +5 G>A. Archives of ophthalmology (Chicago, Ill. : 1960) 6 21746984
2019 A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family. BMC medical genetics 5 30616528
2023 FRMD7 Gene Alterations in a Pakistani Family Associated with Congenital Idiopathic Nystagmus. Genes 4 36833273
2018 Identification of a novel idiopathic congenital nystagmus‑causing missense mutation, p.G296C, in the FRMD7 gene. Molecular medicine reports 4 30015830
2015 A FRMD7 variant in a Japanese family causes congenital nystagmus. Human genome variation 4 27081518
2014 Expression of a novel splice variant of FRMD7 in developing human fetal brains that is upregulated upon the differentiation of NT2 cells. Experimental and therapeutic medicine 4 25187810
2019 Identification and functional characterization of a novel missense mutation in FRMD7 responsible for idiopathic congenital nystagmus. Acta biochimica et biophysica Sinica 3 30576400
2019 Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism. Ophthalmic genetics 3 30942644
2008 [The G990T mutation of the FRMD7 gene in a Chinese family with congenital idiopathic nystagmus]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 3 18247295
2024 Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications. BMC medical genomics 2 38279119
2023 Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus. Frontiers in neurology 2 37545716
2024 Differences of ocular oscillations and neuro-retinal structures in patients with nystagmus caused by GPR143 and FRMD7 gene variants. Indian journal of ophthalmology 1 38648460
2023 Best-corrected visual acuity results facilitate molecular diagnosis of infantile nystagmus patients harboring FRMD7 mutations. Experimental eye research 1 37423457
2023 X-linked FRMD7 gene mutation in idiopathic congenital nystagmus and its role in eye movement: A case report and literature review. Frontiers in ophthalmology 1 38983508
2026 Genetic Landscape and Clinical Characterization of FRMD7-Related Infantile Nystagmus Based on Large In-House Datasets and Literature Review. Investigative ophthalmology & visual science 0 41532703
2025 Functional analysis of a novel segment deletion in the FRMD7 gene causing X-linked idiopathic congenital nystagmus. Genomics 0 41130545
2025 Fabrication and Evaluation of PVA-NYS-THY Nanofiber Scaffolds as Antifungal Agents Against Fluconazoleresistant Candida glabrata. Archives of Razi Institute 0 42226981
2024 Surgical outcomes of a congenital nystagmus family with a missense mutation in the FRMD7 gene. Heliyon 0 39108919
1989 [Genetic mapping of the NYS1 gene in Saccharomyces cerevisiae]. Genetika 0 2689284

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