Cargando…

The p.Cys169Tyr variant of connexin 26 is not a polymorphism

Mutations in the GJB2 gene, which encodes the gap junction protein connexin 26 (Cx26), are the primary cause of hereditary prelingual hearing impairment. Here, the p.Cys169Tyr missense mutation of Cx26 (Cx26C169Y), previously classified as a polymorphism, has been identified as causative of severe h...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zonta, Francesco, Girotto, Giorgia, Buratto, Damiano, Crispino, Giulia, Morgan, Anna, Abdulhadi, Khalid, Alkowari, Moza, Badii, Ramin, Gasparini, Paolo, Mammano, Fabio
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2015
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4383868/ https://www.ncbi.nlm.nih.gov/pubmed/25628337 http://dx.doi.org/10.1093/hmg/ddv026

Ejemplares similares

p.Cys223Tyr mutation causing Crigler–Najjar syndrome type II
por: Xiong, Qing‐Fang, et al.
Publicado: (2020)

Molecular dynamics simulations highlight structural and functional alterations in deafness–related M34T mutation of connexin 26
por: Zonta, Francesco, et al.
Publicado: (2014)

Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network
por: Gallego, Carlos J., et al.
Publicado: (2015)

Multiple endocrine neoplasia 2A with RET mutation p.Cys611Tyr: A case report
por: Li, Yan, et al.
Publicado: (2021)

Whole exome sequencing, in silico and functional studies confirm the association of the GJB2 mutation p.Cys169Tyr with deafness and suggest a role for the TMEM59 gene in the hearing process
por: Mahfood, Mona, et al.
Publicado: (2021)

Linkage Study and Exome Sequencing Identify a BDP1 Mutation Associated with Hereditary Hearing Loss
por: Girotto, Giorgia, et al.
Publicado: (2013)

Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr)
por: Puzik, Alexander, et al.
Publicado: (2014)

Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype
por: Adams, Paul, et al.
Publicado: (2018)

Cues to Opening Mechanisms From in Silico Electric Field Excitation of Cx26 Hemichannel and in Vitro Mutagenesis Studies in HeLa Transfectans
por: Zonta, Francesco, et al.
Publicado: (2018)

The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency
por: Fabbri, Helena Campos, et al.
Publicado: (2014)

Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein
por: Dominguez-Valentin, Mev, et al.
Publicado: (2014)

Design and Characterization of a Human Monoclonal Antibody that Modulates Mutant Connexin 26 Hemichannels Implicated in Deafness and Skin Disorders
por: Xu, Liang, et al.
Publicado: (2017)

The 3.5 ångström X−ray structure of the human connexin26 gap junction channel is unlikely that of a fully open channel
por: Zonta, Francesco, et al.
Publicado: (2013)

A Human-Derived Monoclonal Antibody Targeting Extracellular Connexin Domain Selectively Modulates Hemichannel Function
por: Ziraldo, Gaia, et al.
Publicado: (2019)

Detection of Bovine TMEM95 p.Cys161X Mutation in 13 Chinese Indigenous Cattle Breeds
por: Zhang, Sihuan, et al.
Publicado: (2019)

Estimating the age of the p.Cys433Arg variant in the MYOC gene in patients with primary open-angle glaucoma
por: Marques, Ana Maria, et al.
Publicado: (2018)

Role of gamma carboxylated Glu47 in connexin 26 hemichannel regulation by extracellular Ca(2+): Insight from a local quantum chemistry study
por: Zonta, Francesco, et al.
Publicado: (2014)

A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption
por: Meyer, Esther, et al.
Publicado: (2010)

Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss
por: Lechowicz, Urszula, et al.
Publicado: (2015)

v-Src phosphorylation of connexin 43 on Tyr247 and Tyr265 disrupts gap junctional communication
por: Lin, Rui, et al.
Publicado: (2001)

Why patients with THBD c.1611C>A (p.Cys537X) nonsense mutation have high levels of soluble thrombomodulin?
por: Jourdy, Yohann, et al.
Publicado: (2017)

A potent antagonist antibody targeting connexin hemichannels alleviates Clouston syndrome symptoms in mutant mice
por: Kuang, Yuanyuan, et al.
Publicado: (2020)

Functional Exploration of the Adult Ovarian Granulosa Cell Tumor-Associated Somatic FOXL2 Mutation p.Cys134Trp (c.402C>G)
por: Benayoun, Bérénice A., et al.
Publicado: (2010)

Natural Disease Course in Usher Syndrome Patients Harboring USH2A Variant p.Cys870* in Exon 13, Amenable to Exon Skipping Therapy
por: Čadonič, Katja, et al.
Publicado: (2023)

Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report
por: Bezdíčka, Martin, et al.
Publicado: (2021)

A Novel Homozygous Nonsense Mutation p.Cys366* in the WNT10B Gene Underlying Split-Hand/Split Foot Malformation in a Consanguineous Pakistani Family
por: Khan, Amjad, et al.
Publicado: (2020)

FGFR2 Mutation p.Cys342Arg Enhances Mitochondrial Metabolism-Mediated Osteogenesis via FGF/FGFR-AMPK-Erk1/2 Axis in Crouzon Syndrome
por: Wang, Yidi, et al.
Publicado: (2022)

Ancestry-related distribution of Runs of homozygosity and functional variants in Qatari population
por: Mezzavilla, Massimo, et al.
Publicado: (2022)

GFAP variant p. Tyr366Cys demonstrated widespread brain cavitation in neonatal Alexander disease.
por: Takeuchi, Hirokazu, et al.
Publicado: (2021)

Connexin 26 and Connexin 43 in Canine Mammary Carcinoma
por: Luu, Savannah, et al.
Publicado: (2019)

In vivo genetic manipulation of inner ear connexin expression by bovine adeno-associated viral vectors
por: Crispino, Giulia, et al.
Publicado: (2017)

A Novel TTN Gene Variant c.95136T>G (p.Cys31712Trp) and Associated Clinical Characteristics in a Family With Suspected Hereditary Myopathy With Early Respiratory Failure
por: Yeo, Yoomi, et al.
Publicado: (2021)

A New Presenilin 1 (Psen1) Mutation (p.Cys263Trp) as a Cause of Both Early and Late-Onset Alzheimer’s Disease in a Large Italian Family
por: Tortelli, Rosanna, et al.
Publicado: (2021)

Connexin-Mediated Signaling in Nonsensory Cells Is Crucial for the Development of Sensory Inner Hair Cells in the Mouse Cochlea
por: Johnson, Stuart L., et al.
Publicado: (2017)

Novel prion mutation (p.Tyr225Cys) in a Korean patient with atypical Creutzfeldt–Jakob disease
por: Bagyinszky, Eva, et al.
Publicado: (2019)

Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 2 Caused by CYS59TYR BOLA3 Mutation
por: Saudino, Giovanni, et al.
Publicado: (2021)

Novel cysteine substitution p.(Cys1084Tyr) causes variable expressivity of qualitative and quantitative VWF defects
por: Rawley, Orla, et al.
Publicado: (2022)

Connexins and the Epithelial Tissue Barrier: A Focus on Connexin 26
por: Garcia-Vega, Laura, et al.
Publicado: (2021)

Trametinib Induces the Stabilization of a Dual GNAQ p.Gly48Leu- and FGFR4 p.Cys172Gly-Mutated Uveal Melanoma. The Role of Molecular Modelling in Personalized Oncology
por: Krebs, Fanny S., et al.
Publicado: (2020)

In Silico Maturation of a Nanomolar Antibody against the Human CXCR2
por: Buratto, Damiano, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_1rm8c05rpf9s9st0ihp59iljet