A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein (Q28261878)

11

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Alexandre Reymond

8

object named as

Alexandre Reymond

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Marie Wattenhofer-Donzé

1

object named as

Marie Wattenhofer

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author name string

Nilüfer Sahin-Calapoglu

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Ditte Andreasen

3

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Ersan Kalay

4

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Refik Caylan

5

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Bastien Braillard

6

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Nicole Fowler-Jaeger

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Bernard C Rossier

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Ahmet Karaguzel

The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro

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language of work or name

English

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publication date

October 2005

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published in

Human Genetics

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volume

117

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issue

6

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page(s)

528-35

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cites work

1 reference

12 December 2020

Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness

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12 December 2020

Twenty two novel mutations of the factor VII gene in factor VII deficiency

1 reference

12 December 2020

Severe factor VII deficiency caused by mutations abolishing the cleavage site for activation and altering binding to tissue factor

1 reference

12 December 2020

The peptidase zymogen proregions: nature's way of preventing undesired activation and proteolysis

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12 December 2020

Hb F Synthesis in Sickle Cell Anaemia: a Comparison of Saudi Arab Cases with those of African Origin

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12 December 2020

Geography and the clinical picture of sickle cell disease. An overview

1 reference

12 December 2020

Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan.

1 reference

12 December 2020

Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients

1 reference

12 December 2020

Genes responsible for human hereditary deafness: symphony of a thousand

1 reference

12 December 2020

Monogenic traits are not simple: lessons from phenylketonuria

1 reference

12 December 2020

Connexin-26 mutations in sporadic and inherited sensorineural deafness

1 reference

12 December 2020

Location and function of the epithelial Na channel in the cochlea.

1 reference

12 December 2020

Prevalence of GJB2 mutations in prelingual deafness in the Greek population.

1 reference

12 December 2020

Connexin26 mutations associated with nonsyndromic hearing loss.

1 reference

12 December 2020

Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness

1 reference

12 December 2020

Protein C London 1: recurrent mutation at Arg 169 (CGG----TGG) in the protein C gene causing thrombosis

1 reference

12 December 2020

Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness

1 reference

12 December 2020

Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

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12 December 2020

Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

1 reference

12 December 2020

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.

1 reference

12 December 2020

A simple and efficient non-organic procedure for the isolation of genomic DNA from blood

1 reference

12 December 2020

Relevance of connexin deafness (DFNB1) to human evolution

1 reference

12 December 2020

Categories of deltaF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristics.

1 reference

12 December 2020

Serine protease mechanism and specificity

1 reference

12 December 2020

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

1 reference

12 December 2020

Raised Hb F levels in sickle cell disease are caused by a determinant linked to the beta globin gene cluster

1 reference

12 December 2020

Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3

1 reference

12 December 2020

Gain-of-function mutations associated with hereditary pancreatitis enhance autoactivation of human cationic trypsinogen

1 reference

12 December 2020

Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region

1 reference

12 December 2020

An epithelial serine protease activates the amiloride-sensitive sodium channel

1 reference

12 December 2020

Human cationic trypsinogen. Role of Asn-21 in zymogen activation and implications in hereditary pancreatitis

1 reference

12 December 2020

Catalytic cleavage of the androgen-regulated TMPRSS2 protease results in its secretion by prostate and prostate cancer epithelia.

1 reference

12 December 2020

A role for the beta-subunit in the expression of functional Na+-K+-ATPase in Xenopus oocytes

1 reference

12 December 2020

Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss

1 reference

12 December 2020

Missense mutations and the magnitude of functional deficit: the example of factor IX.

1 reference

12 December 2020

Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3

1 reference

12 December 2020