An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss (Q24296636)

Transmembrane serine protease 3

1 reference

Transmembrane serine protease 5

1 reference

peptidase activity

1 reference

Hepsin

1 reference

Transmembrane protease, serine 5 (spinesin)

1 reference

Transmembrane protease, serine 3

1 reference

Xavier Estivill i Pallejà

1 reference

17

0 references

Ester Ballana

Ester Ballana

6

0 references

Qingyu Wu

Qingyu Wu

9

0 references

Rohan D. Teasdale

Rohan D Teasdale

16

0 references

Hamish S. Scott

Hamish S Scott

19

0 references

Terry Speed

12

Terence P Speed

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author name string

Michel Guipponi

1

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Min-Yen Toh

2

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Justin Tan

3

0 references

Daeho Park

4

0 references

Kelly Hanson

5

0 references

David Kwong

7

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Ping Z F Cannon

8

0 references

Alex Gout

10

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Mauro Delorenzi

11

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Richard J H Smith

13

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Henrik H Dahl

14

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Michael Petersen

15

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Woo Jin Park

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

18

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language of work or name

English

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publication date

January 2008

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published in

Human Mutation

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volume

29

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page(s)

130-41

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issue

1

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cites work

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7 January 2021

Mendelian disorders deserve more attention

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Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase

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

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Hypertension in mice lacking the proatrial natriuretic peptide convertase corin

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Mammalian prenylcysteine carboxyl methyltransferase is in the endoplasmic reticulum

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Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

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7 January 2021

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

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7 January 2021

Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss

1 reference

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7 January 2021

Connexin-26 mutations in sporadic and inherited sensorineural deafness

1 reference

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7 January 2021

A type VII myosin encoded by the mouse deafness gene shaker-1

1 reference

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7 January 2021

A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Universal fluorescent labeling of PCR products for DHPLC analysis: reducing cost and increasing sample throughput.

1 reference

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7 January 2021

Mice deficient for the type II transmembrane serine protease, TMPRSS1/hepsin, exhibit profound hearing loss

1 reference

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7 January 2021

Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20617

7 January 2021

Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus

1 reference

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7 January 2021

Phenotypic analysis of mice lacking the Tmprss2-encoded protease

1 reference

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7 January 2021

Usher syndrome: molecular links of pathogenesis, proteins and pathways

1 reference

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7 January 2021

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Characterization of mutant neutrophil elastase in severe congenital neutropenia

1 reference

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7 January 2021

Matriptase/MT-SP1 is required for postnatal survival, epidermal barrier function, hair follicle development, and thymic homeostasis

1 reference

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7 January 2021

Ageing and hearing loss

1 reference

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7 January 2021

LIF potentiates the NT-3-mediated survival of spiral ganglia neurones in vitro

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Genetic epidemiology of hearing impairment

1 reference

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7 January 2021

Membrane anchored serine proteases: a rapidly expanding group of cell surface proteolytic enzymes with potential roles in cancer

1 reference

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7 January 2021

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

1 reference

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7 January 2021

Lessons from studying monogenic disease for common disease

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Molecular mechanisms of age-related hearing loss

1 reference

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7 January 2021

Chronic depolarization enhances the trophic effects of brain-derived neurotrophic factor in rescuing auditory neurons following a sensorineural hearing loss.

1 reference

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7 January 2021

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20617

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20617

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20617

7 January 2021

Defective myosin VIIA gene responsible for Usher syndrome type 1B

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20617

7 January 2021

Generation and characterization of mice deficient in hepsin, a hepatic transmembrane serine protease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20617

7 January 2021

Type II transmembrane serine proteases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20617

7 January 2021

Detection of site-specific proteolysis in secretory pathways

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20617

7 January 2021

Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20617

7 January 2021