Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome.
about
Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in ChinaSLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct.Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVAAnalysis of cellular localization and function of carboxy-terminal mutants of pendrinFunctional characterization of pendrin mutations found in the Israeli and Palestinian populations.Pendrin function and regulation in Xenopus oocytesMolecular and functional characterization of human pendrin and its allelic variants.Pendrin function in airway epithelia.Novel role for pendrin in orchestrating bicarbonate secretion in cystic fibrosis transmembrane conductance regulator (CFTR)-expressing airway serous cells.STAT6 links IL-4/IL-13 stimulation with pendrin expression in asthma and chronic obstructive pulmonary disease.Fast fluorometric method for measuring pendrin (SLC26A4) Cl-/I- transport activity.GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness.The ESF meeting on "The proteomics, epigenetics and pharmacogenetics of pendrin".Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
P2860
Q28710550-82D20174-213E-479C-8290-837DB703E797Q36123225-182D1E5E-33A5-4CBF-B76D-15CE289944F9Q36976334-44836DA2-C471-4A3E-A579-B5E736ACC7AFQ37005234-86AA2CCE-9D61-4894-8F04-C2083382C09DQ37005244-77D59B68-3DAD-43F4-B664-9E2326B34210Q37005250-DE6ED3DF-E9F6-45D6-AD93-BB728157BAD7Q37960781-383B617B-3E6F-4A41-9C86-F6738C048CD7Q37960788-D47F313A-7E9F-4D1C-8AD2-5B21A44736EFQ39243281-B2FD7BD0-922F-4995-8AA7-520E7920C805Q39495554-4D72E4F0-C13E-4C46-B688-18DAE22B5C43Q40242619-845619B3-68FE-4F3E-9CFD-B0CE3E69907BQ50353156-927D9087-7288-4315-B8B8-9B854F58C924Q50432380-388A82A6-AB28-4464-8A43-939D2D2D837EQ57455558-49EEB3EB-2D6D-4F8B-B9B2-4DBB3FC25AFA
P2860
Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh-hant
name
Functional characterization of ...... patient with Pendred syndrome.
@en
Functional characterization of ...... patient with Pendred syndrome.
@nl
type
label
Functional characterization of ...... patient with Pendred syndrome.
@en
Functional characterization of ...... patient with Pendred syndrome.
@nl
prefLabel
Functional characterization of ...... patient with Pendred syndrome.
@en
Functional characterization of ...... patient with Pendred syndrome.
@nl
P2093
P2860
P50
P356
P1476
Functional characterization of ...... patient with Pendred syndrome
@en
P2093
Carlo Storelli
Chiara Sironi
Claudia Bazzini
Giuliano Meyer
Guido Bottà
Johannes Fürst
Laura Fugazzola
Marisa Tosco
Markus Paulmichl
Nadia Cerutti
P2860
P304
P356
10.1159/000094137
P577
2006-06-20T00:00:00Z