Cargando…

Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population

Hereditary nonsyndromic sensorineural hearing loss is a disease in which hearing loss occurs due to damage to the organ of the inner ear, the auditory nerve, or the center in the brain that is responsible for the perception of sound, characterized by wide locus and allelic heterogeneity and differen...

Descripción completa

Detalles Bibliográficos
Autores principales:	Petrova, Nika V., Marakhonov, Andrey V., Balinova, Natalia V., Abrukova, Anna V., Konovalov, Fedor A., Kutsev, Sergey I., Zinchenko, Rena A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8226456/ https://www.ncbi.nlm.nih.gov/pubmed/34071867 http://dx.doi.org/10.3390/genes12060820

Ejemplares similares

Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania
por: Petrova, Nika, et al.
Publicado: (2023)

Ethnic Differences in the Frequency of CFTR Gene Mutations in Populations of the European and North Caucasian Part of the Russian Federation
por: Petrova, Nika, et al.
Publicado: (2021)

Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease
por: Allikmets, Rando, et al.
Publicado: (2018)

High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients
por: Petrova, Nika V., et al.
Publicado: (2022)

An Analysis of the Effect of ABCA4 p.Asn1868Ile Genotypes on Retinal Structure in 26,558 Participants in the UK Biobank
por: Simcoe, Mark J., et al.
Publicado: (2023)

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human
por: Charizopoulou, Nikoletta, et al.
Publicado: (2011)

Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence
por: Zinchenko, Rena A., et al.
Publicado: (2021)

Corrigendum: Epidemiology of rare hereditary diseases in the European part of Russia: Point and cumulative prevalence
por: Zinchenko, Rena A., et al.
Publicado: (2022)

A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome
por: van Riel, Els, et al.
Publicado: (2010)

The PINK1 p.Asn521Thr Variant Is Associated with Earlier Disease Onset in GRN/C9orf72 Frontotemporal Lobar Degeneration
por: Rossi, Giacomina, et al.
Publicado: (2022)

Relative Frequencies of PAX6 Mutational Events in a Russian Cohort of Aniridia Patients in Comparison with the World’s Population and the Human Genome
por: Vasilyeva, Tatyana A., et al.
Publicado: (2022)

Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study
por: Germain, Dominique P., et al.
Publicado: (2018)

Preferentially Paternal Origin of De Novo 11p13 Chromosome Deletions Revealed in Patients with Congenital Aniridia and WAGR Syndrome
por: Vasilyeva, Tatyana A., et al.
Publicado: (2020)

Observation of c.260A > G mutation in superoxide dismutase 1 that causes p.Asn86Ser in Iranian amyotrophic lateral sclerosis patient and absence of genotype/phenotype correlation
por: Khani, Marzieh, et al.
Publicado: (2015)

The secondary KIT mutation p.Ala510Val in a cutaneous mast cell tumour carrying the activating mutation p.Asn508Ile confers resistance to masitinib in dogs
por: Gentilini, Fabio, et al.
Publicado: (2020)

Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders
por: Marakhonov, Andrey V., et al.
Publicado: (2018)

Description of Joint Alterations Observed in a Family Carrying p.Asn453Ser COMP Variant: Clinical Phenotypes, In Silico Prediction of Functional Impact on COMP Protein and Stability, and Review of the Literature
por: Rochoux, Quitterie, et al.
Publicado: (2021)

Antifungal Activity of Avocado Seed Recombinant GASA/Snakin PaSn
por: Hernández-Martínez, Marco Antonio, et al.
Publicado: (2022)

MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance
por: Thongpradit, Supranee, et al.
Publicado: (2020)

Prevalence of mitochondrial DNA mutations in sporadic patients with nonsyndromic sensorineural hearing loss()
por: Jiang, Hua, et al.
Publicado: (2015)

Bilateral Nonsyndromic Sensorineural Hearing Loss Caused by a NARS2 Mutation
por: Al-Sharif, Fawzia, et al.
Publicado: (2022)

Therapeutic Implications of GIPC1 Silencing in Cancer
por: Chittenden, Thomas W., et al.
Publicado: (2010)

Challenging indication of cardioverter defibrillator implantation after sudden cardiac arrest in the very young: a case series of catecholaminergic polymorphic ventricular tachycardia secondary to de novo calmodulin p.Asn98Ser
por: Maltret, Alice, et al.
Publicado: (2021)

Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients
por: Petrova, Nika V., et al.
Publicado: (2020)

Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients
por: Petrova, Nika V., et al.
Publicado: (2020)

The von Hippel-Lindau Chuvash mutation in mice alters cardiac substrate and high-energy phosphate metabolism
por: Slingo, Mary, et al.
Publicado: (2016)

Forty-year study of rates of homicide by people with schizophrenia and other homicides in the Chuvash Republic of the Russian Federation
por: Golenkov, Andrei, et al.
Publicado: (2021)

A Screening Approach for Inherited Erythrocytosis due to the VHL:c.598C > T Mutation (Chuvash Polycythemia)
por: Duggal, Nisha, et al.
Publicado: (2023)

A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region
por: Vasilyeva, Tatyana A., et al.
Publicado: (2020)

Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient
por: Vasilyeva, Tatyana A., et al.
Publicado: (2023)

Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in ABCA4-Related Retinal Dystrophy in an Eastern European Population
por: Kadyshev, Vitaly V., et al.
Publicado: (2023)

The von Hippel-Lindau Chuvash mutation in mice causes carotid-body hyperplasia and enhanced ventilatory sensitivity to hypoxia
por: Slingo, Mary E., et al.
Publicado: (2013)

NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness
por: Chen, Penghui, et al.
Publicado: (2016)

Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss
por: Du, Qiang, et al.
Publicado: (2022)

Strength and duration of GIPC-dependent signaling networks as determinants in cancer
por: Ahmed, Tasmia, et al.
Publicado: (2020)

Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic
por: Zinchenko, Rena A., et al.
Publicado: (2020)

Functional proteomics, human genetics and cancer biology of GIPC family members
por: Katoh, Masaru
Publicado: (2013)

Regulation of mitochondrial fission by GIPC-mediated Drp1 retrograde transport
por: Ramonett, Aaron, et al.
Publicado: (2022)

Recurrent de novo WFS1 pathogenic variants in Chinese sporadic patients with nonsyndromic sensorineural hearing loss
por: Guan, Jing, et al.
Publicado: (2020)

Current concepts in genetics of nonsyndromic clefts
por: Murthy, Jyotsna, et al.
Publicado: (2009)

Cannot write session to /tmp/vufind_sessions/sess_58cd2pi916qvj58t0o2ipt44i9