Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
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Andrew R. Grant | H. P. Kang | Marina T. DiStefano | H. Rehm | A. Pandya | A. Willis | R. Mar-Heyming | Minjie Luo | K. Avraham | M. Frydman | N. Nagan | M. Kenna | S. Amr | A. A. Abou Tayoun | L. Basel-Salmon | J. Alexander | Jun Shen | Kejian Zhang | Christine Lo | S. Guha | I. del Castillo | M. Moreno-Pelayo | H. Duzkale | T. Matsunaga | J. Greinwald | Yen-Fu Cheng | Yoel Hirsch | Sarah E. Hemphill | Z. Brownstein | B. Davidov | Yan Zhang | Krista Moyer | G. Garrido | Yukun Zeng | Ye Cao | Tzvi Weiden | Rebecca K. Siegert | Xinhua Hu | Andrea M. Oza | Kwong Wai Choy | Hatice Duzkale | Minjie Luo
[1] Nicholas K. Wang,et al. Increasing evidence of combinatory variant effects calls for revised classification of low-penetrance alleles , 2018, Genetics in medicine : official journal of the American College of Medical Genetics.
[2] Alex Chapin,et al. Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss , 2018, bioRxiv.
[3] P. Tsao,et al. Newborn genetic screening for hearing impairment: a population-based longitudinal study , 2016, Genetics in Medicine.
[4] N. Dale,et al. Altered CO 2 sensitivity of connexin26 mutant hemichannels in vitro , 2016, Physiological reports.
[5] Zhiwu Huang,et al. Characterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2 , 2016, Scientific Reports.
[6] L. Zong,et al. GJB2 and mitochondrial 12S rRNA susceptibility mutations in sudden deafness , 2016, European Archives of Oto-Rhino-Laryngology.
[7] Yongyi Yuan,et al. Correlation analysis of phenotype and genotype of GJB2 in patients with non-syndromic hearing loss in China. , 2015, Gene.
[8] Xiufeng Xu,et al. Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China , 2015, PloS one.
[9] G. Fialho,et al. The controversial p.Met34Thr variant in GJB2 gene: Two siblings, one genotype, two phenotypes. , 2015, International journal of pediatric otorhinolaryngology.
[10] Min Goo Lee,et al. Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene , 2015, Experimental & Molecular Medicine.
[11] Y. Chen,et al. The homozygous p.V37I variant of GJB2 is associated with diverse hearing phenotypes , 2015, Clinical genetics.
[12] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[13] A. Yılmaz. Bioinformatic Analysis of GJB2 Gene Missense Mutations , 2014, Cell Biochemistry and Biophysics.
[14] D. Chan,et al. GJB2‐associated hearing loss: Systematic review of worldwide prevalence, genotype, and auditory phenotype , 2014, The Laryngoscope.
[15] Fabio Mammano,et al. Molecular dynamics simulations highlight structural and functional alterations in deafness–related M34T mutation of connexin 26 , 2014, Front. Physiol..
[16] H. Rehm,et al. Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss. , 2010, Archives of otolaryngology--head & neck surgery.
[17] So Nakagawa,et al. Structure of the connexin 26 gap junction channel at 3.5 Å resolution , 2009, Nature.
[18] Daniel A. Larson,et al. Audiologic and temporal bone imaging findings in patients with sensorineural hearing loss and GJB2 mutations , 2009, The Laryngoscope.
[19] R. Płoski,et al. M34T and V37I mutations in GJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance , 2007, American journal of medical genetics. Part A.
[20] Edoardo Arslan,et al. Pathogenetic role of the deafness-related M34T mutation of Cx26. , 2006, Human molecular genetics.
[21] N. Blin,et al. Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment , 2006, Neurobiology of Disease.
[22] D. Kelsell,et al. Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T , 2004, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.
[23] C. Petit,et al. Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene , 2004, European Journal of Human Genetics.
[24] D. Choo,et al. Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States. , 2003, Archives of otolaryngology--head & neck surgery.
[25] S. Marlin,et al. Loss‐of‐function and residual channel activity of connexin26 mutations associated with non‐syndromic deafness , 2003, FEBS letters.
[26] K. Lange,et al. Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and ‐493del10 , 2003, Human mutation.
[27] Paolo Gasparini,et al. Hearing loss: frequency and functional studies of the most common connexin26 alleles. , 2002, Biochemical and biophysical research communications.
[28] Xavier Estivill,et al. Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression. , 2002, Human Genetics.
[29] A. Pagnamenta,et al. Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss , 2001, Journal of medical genetics.
[30] C. Berlin,et al. Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT. , 2000, American journal of human genetics.
[31] W. Kimberling,et al. Prevalent connexin 26 gene (GJB2) mutations in Japanese , 2000, Journal of medical genetics.
[32] G. Green,et al. The M34T allele variant of connexin 26. , 2000, Genetic testing.
[33] R. Williamson,et al. High frequency hearing loss correlated with mutations in the GJB2 gene , 2000, Human Genetics.
[34] A Forge,et al. Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness. , 1999, Human molecular genetics.
[35] D. Kelsell,et al. Connexin mutations in deafness , 1998, Nature.
[36] J. W. Askew,et al. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. , 1998, American journal of human genetics.
[37] V. Sheffield,et al. Connexin mutations and hearing loss , 1998, Nature.
[38] K. Elbedour,et al. Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss , 1998, Human mutation.
[39] D. Kelsell,et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness , 1997, nature.