Associated Papers
New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines.
Fernández-Suárez E et al.
Npj Genomic Medicine, 2025
Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.
Cakar A et al.
European Journal of Neurology, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Episodic Neurological Dysfunction in X-Linked Charcot-Marie-Tooth Disease: Expansion of the Phenotypic and Genetic Spectrum.
Zhan F et al.
Journal of Clinical Neurology (seoul, Korea), 2024
Gene replacement therapy in two Golgi-retained CMT1X mutants before and after the onset of demyelinating neuropathy.
Kagiava A et al.
Molecular Therapy. Methods & Clinical Development, 2023
Structures of wild-type and selected CMT1X mutant connexin 32 gap junction channels and hemichannels.
Qi C et al.
Science Advances, 2023
Inherited disease-linked arginine76/75 mutants in Cx50 and Cx45 showed impaired homotypic and heterotypic gap junction function, but not Cx43.
Li T et al.
The Biochemical Journal, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
A Chinese pedigree with a novel mutation in GJB1 gene and a rare variation in DHTKD1 gene for diverse Charcot‑Marie‑Tooth diseases.
Zhao ZH et al.
Molecular Medicine Reports, 2019
Substitution impact of highly conserved arginine residue at position 75 in GJB1 gene in association with X-linked Charcot-Marie-tooth disease: A computational study.
Agrahari AK et al.
Journal of Theoretical Biology, 2018
What's the Function of Connexin 32 in the Peripheral Nervous System?
Bortolozzi M
Frontiers in Molecular Neuroscience, 2018
Aberrant trafficking of a Leu89Pro connexin32 mutant associated with X-linked dominant Charcot-Marie-Tooth disease.
Da Y et al.
Neurological Research, 2016
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26.
Han XH et al.
Genetica, 2014
Functional requirement for a highly conserved charged residue at position 75 in the gap junction protein connexin 32.
Abrams CK et al.
The Journal of Biological Chemistry, 2013
Structural basis for the selective permeability of channels made of communicating junction proteins.
Ek-Vitorin JF et al.
Biochimica Et Biophysica Acta, 2013
Genetic epidemiology of Charcot-Marie-Tooth disease.
Braathen GJ
Acta Neurologica Scandinavica. Supplementum, 2012
GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.
Iossa S et al.
Current Genomics, 2011
Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.
Bazazzadegan N et al.
American Journal of Medical Genetics. Part A, 2011
Gap junctions in inherited human disease.
Zoidl G et al.
Pflugers Archiv : European Journal of Physiology, 2010
Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.
Hoang Dinh E et al.
Brain Research, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Genetic diseases of junctions.
Lai-Cheong JE et al.
The Journal of Investigative Dermatology, 2007
The effects of a dominant connexin32 mutant in myelinating Schwann cells.
Jeng LJ et al.
Molecular and Cellular Neurosciences, 2006
Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease.
Wang HL et al.
Neurobiology of Disease, 2004
The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem.
Taylor RA et al.
Neurology, 2003
Diverse trafficking abnormalities of connexin32 mutants causing CMTX.
Yum SW et al.
Neurobiology of Disease, 2002
trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation.
Rouan F et al.
Journal of Cell Science, 2001
Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene.
Ainsworth PJ et al.
Human Genetics, 1998
Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population.
Latour P et al.
Neurogenetics, 1997
Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance.
Silander K et al.
Human Genetics, 1997
[The glucose-pyruvate test in Friedreich's ataxia and Charcot-Marie-Tooth disease].
Reggio A et al.
Acta Neurologica, 1981