Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families.
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Tight junction-associated MARVEL proteins marveld3, tricellulin, and occludin have distinct but overlapping functionsAutosomal recessive nonsyndromic deafness genes: a reviewDeletion of Tricellulin Causes Progressive Hearing Loss Associated with Degeneration of Cochlear Hair Cells.The Mammalian Blood-Testis Barrier: Its Biology and RegulationTricellulin deficiency affects tight junction architecture and cochlear hair cells.Tricellulin forms a barrier to macromolecules in tricellular tight junctions without affecting ion permeability.Deafness in occludin-deficient mice with dislocation of tricellulin and progressive apoptosis of the hair cells.Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domainMARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin.Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing lossPhenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.A role for tricellulin in the regulation of gill epithelium permeability.Tight junction proteins: from barrier to tumorigenesis.The tight junction in inflammatory disease: communication breakdown.Do cell junction protein mutations cause an airway phenotype in mice or humans?Claudins and other tight junction proteins.A role for tight junction-associated MARVEL proteins in larval sea lamprey (Petromyzon marinus) osmoregulation.Histone deacetylase inhibition prevents cell death induced by loss of tricellular tight junction proteins in temperature-sensitive mouse cochlear cells.The intestinal epithelial barrier: a therapeutic target?Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling.DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population.TMTC2 variant associated with sensorineural hearing loss and auditory neuropathy spectrum disorder in a family dyad.Tricellulin expression and its prognostic significance in primary liver carcinomas
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P2860
Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
@tr
scientific article published on 15 December 2007
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
Splice-site mutations in the T ...... airment in Pakistani families.
@en
Splice-site mutations in the T ...... airment in Pakistani families.
@nl
type
label
Splice-site mutations in the T ...... airment in Pakistani families.
@en
Splice-site mutations in the T ...... airment in Pakistani families.
@nl
prefLabel
Splice-site mutations in the T ...... airment in Pakistani families.
@en
Splice-site mutations in the T ...... airment in Pakistani families.
@nl
P2093
P2860
P1476
Splice-site mutations in the T ...... pairment in Pakistani families
@en
P2093
Attya Bhatti
Merry-Lynn McDonald
Muhammad S Chishti
Sana Tamim
Suzanne M Leal
Wasim Ahmad
P2860
P2888
P304
P356
10.1007/S10038-007-0209-3
P577
2007-12-15T00:00:00Z