SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.
about
Autosomal recessive nonsyndromic deafness genes: a reviewCharacterising the spectrum of autosomal recessive hereditary hearing loss in IranThe Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani PopulationsA New Genetic Diagnostic for Enlarged Vestibular Aqueduct Based on Next-Generation Sequencing.Further characterisation of the recently described SLC26A4 c.918+2T>C mutation and reporting of a novel variant predicted to be damaging.Transcriptional regulation of the pendrin gene.Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing lossEndocrine Glands and Hearing: Auditory Manifestations of Various Endocrine and Metabolic Conditions.The Study of SLC26A4 Gene Causing Autosomal Recessive Hearing Loss by Linkage Analysis in a Cohort of Iranian Populations.Targeting of the hair cell proteins cadherin 23, harmonin, myosin XVa, espin, and prestin in an epithelial cell model.Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42Endolymphatic Na⁺ and K⁺ concentrations during cochlear growth and enlargement in mice lacking Slc26a4/pendrin.Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models.Challenges and solutions for gene identification in the presence of familial locus heterogeneity.Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.SLC26A4 mutations in patients with moderate to severe hearing lossCompound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome.Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss.The R130S mutation significantly affects the function of prestin, the outer hair cell motor protein.Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling.Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness.
P2860
Q24611997-ED0A6A0B-6A97-4953-90DC-CAD0C7F770D5Q27317126-AFB4CFEF-2232-4CA6-820F-AE1AF6EF42ADQ28087697-FB1D6523-DC1C-4ECB-87F3-7F8E0FB60991Q30366260-3153C94A-5FD2-422B-8CB5-212028819722Q30376118-B47D049D-3CC5-4854-835B-6CDF8C23949FQ30451832-B5325C5E-BB26-4A7F-A0FB-C1449C6C7ABBQ33647400-9A95D804-0518-4858-B036-78165C04B537Q33697524-A39A6661-A448-44C1-B469-C06DABE0C740Q34221098-51C1712C-0103-46F5-ACCA-0A92E5D084D8Q34340843-DBD4B94C-DAB6-44F5-B98D-4277D302CA37Q34560844-8D91F545-ACBC-4FCF-AF2E-76CA4D41CDC0Q34761526-E2282DEE-1127-407D-9F7D-E03700ED5295Q35243789-A4877989-867C-4EDD-9A96-B88C0AE5F577Q35959689-39EC1DE0-7E9B-4BA3-BB95-3F2365D7210EQ36028359-106986B2-997C-4D0B-B08E-68B5899F9934Q36680215-A818F787-9E0D-48B1-9B1F-F5C72242B6AFQ37022173-598B7E11-ECE5-4E5D-BD80-DC4F0C2437BAQ37393466-6735C62D-A05B-4A8A-8056-CFB897500806Q38214755-641B0922-4153-46A1-B4F3-4AE7557E8E2DQ41486619-A339A30C-8471-4E0F-8DA0-6BF20CC1EBF7Q46298127-EA09CE21-437A-47B4-965E-E5379DF1BB39Q47584025-AA3F1BFD-ABF6-4EE4-B866-F887B509D7B9Q50310624-CB188194-CCA2-4899-AD37-2D2B496E95E4Q50354134-0A823FD0-5E02-4739-BA8D-08D9D660B48B
P2860
SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
SLC26A4 mutation spectrum asso ...... dred's syndrome in Pakistanis.
@en
SLC26A4 mutation spectrum asso ...... dred's syndrome in Pakistanis.
@nl
type
label
SLC26A4 mutation spectrum asso ...... dred's syndrome in Pakistanis.
@en
SLC26A4 mutation spectrum asso ...... dred's syndrome in Pakistanis.
@nl
prefLabel
SLC26A4 mutation spectrum asso ...... dred's syndrome in Pakistanis.
@en
SLC26A4 mutation spectrum asso ...... dred's syndrome in Pakistanis.
@nl
P2093
P356
P1476
SLC26A4 mutation spectrum asso ...... dred's syndrome in Pakistanis.
@en
P2093
Andrew J Griffith
Ateeq-ul-Jaleel
Saba Tasneem
Saima Anwar
Saima Riazuddin
Shahid Y Khan
Sheikh Riazuddin
Thomas B Friedman
Zubair M Ahmed
P2860
P2888
P304
P356
10.1038/JHG.2009.21
P577
2009-03-13T00:00:00Z