nonsyndromic deafness

Literature (11)

Literature for DOID 0050563: nonsyndromic deafness

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein., Wattenhofer M,Sahin-Calapoglu N,Andreasen D,Kalay E,Caylan R,Braillard B,Fowler-Jaeger N,Reymond A,Rossier BC,Karaguzel A,Antonarakis SE, Hum Genet. October 1, 2005; 117(6):1432-1203.
Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss., Meşe G,Londin E,Mui R,Brink PR,White TW, Hum Genet. August 1, 2004; 115(3):1432-1203.
Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T., Skerrett IM,Di WL,Kasperek EM,Kelsell DP,Nicholson BJ, FASEB J. May 1, 2004; 18(7):1530-6860.
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro., Guipponi M,Vuagniaux G,Wattenhofer M,Shibuya K,Vazquez M,Dougherty L,Scamuffa N,Guida E,Okui M,Rossier C,Hancock M,Buchet K,Reymond A,Hummler E,Marzella PL,Kudoh J,Shimizu N,Scott HS,Antonarakis SE,Rossier BC, Hum Mol Genet. November 1, 2002; 11(23):1460-2083.
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness., Kubisch C,Schroeder BC,Friedrich T,Lütjohann B,El-Amraoui A,Marlin S,Petit C,Jentsch TJ, Cell. February 5, 1999; 96(3):1097-4172.
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations., Bockenhauer D,Feather S,Stanescu HC,Bandulik S,Zdebik AA,Reichold M,Tobin J,Lieberer E,Sterner C,Landoure G,Arora R,Sirimanna T,Thompson D,Cross JH,van't Hoff W,Al Masri O,Tullus K,Yeung S,Anikster Y,Klootwijk E,Hubank M,Dillon MJ,Heitzmann D,Arcos-Burgos M,Knepper MA,Dobbie A,Gahl WA,Warth R,Sheridan E,Kleta R, N Engl J Med. May 7, 2009; 360(19):1533-4406.
Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome., Yang T,Gurrola JG,Wu H,Chiu SM,Wangemann P,Snyder PM,Smith RJ, Am J Hum Genet. May 1, 2009; 84(5):1537-6605.
GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf., Tekin M,Xia XJ,Erdenetungalag R,Cengiz FB,White TW,Radnaabazar J,Dangaasuren B,Tastan H,Nance WE,Pandya A, Ann Hum Genet. March 1, 2010; 74(2):1469-1809.
Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing., Naranjo S,Voesenek K,de la Calle-Mustienes E,Robert-Moreno A,Kokotas H,Grigoriadou M,Economides J,Van Camp G,Hilgert N,Moreno F,Alsina B,Petersen MB,Kremer H,Gómez-Skarmeta JL, Hum Genet. October 1, 2010; 128(4):1432-1203.
RNA-Seq and microarray analysis of the Xenopus inner ear transcriptome discloses orthologous OMIM(®) genes for hereditary disorders of hearing and balance., Ramírez-Gordillo D,Powers TR,van Velkinburgh JC,Trujillo-Provencio C,Schilkey F,Serrano EE, BMC Res Notes. November 18, 2015; 8:1756-0500.
The Role of RNA-Binding Proteins in Vertebrate Neural Crest and Craniofacial Development., Forman TE,Dennison BJC,Fantauzzo KA, J Dev Biol. August 27, 2021; 9(3):2221-3759.

A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein., Wattenhofer M,Sahin-Calapoglu N,Andreasen D,Kalay E,Caylan R,Braillard B,Fowler-Jaeger N,Reymond A,Rossier BC,Karaguzel A,Antonarakis SE, Hum Genet. October 1, 2005; 117(6):1432-1203.

Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss., Meşe G,Londin E,Mui R,Brink PR,White TW, Hum Genet. August 1, 2004; 115(3):1432-1203.

Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T., Skerrett IM,Di WL,Kasperek EM,Kelsell DP,Nicholson BJ, FASEB J. May 1, 2004; 18(7):1530-6860.

The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro., Guipponi M,Vuagniaux G,Wattenhofer M,Shibuya K,Vazquez M,Dougherty L,Scamuffa N,Guida E,Okui M,Rossier C,Hancock M,Buchet K,Reymond A,Hummler E,Marzella PL,Kudoh J,Shimizu N,Scott HS,Antonarakis SE,Rossier BC, Hum Mol Genet. November 1, 2002; 11(23):1460-2083.

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness., Kubisch C,Schroeder BC,Friedrich T,Lütjohann B,El-Amraoui A,Marlin S,Petit C,Jentsch TJ, Cell. February 5, 1999; 96(3):1097-4172.

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations., Bockenhauer D,Feather S,Stanescu HC,Bandulik S,Zdebik AA,Reichold M,Tobin J,Lieberer E,Sterner C,Landoure G,Arora R,Sirimanna T,Thompson D,Cross JH,van't Hoff W,Al Masri O,Tullus K,Yeung S,Anikster Y,Klootwijk E,Hubank M,Dillon MJ,Heitzmann D,Arcos-Burgos M,Knepper MA,Dobbie A,Gahl WA,Warth R,Sheridan E,Kleta R, N Engl J Med. May 7, 2009; 360(19):1533-4406.

Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome., Yang T,Gurrola JG,Wu H,Chiu SM,Wangemann P,Snyder PM,Smith RJ, Am J Hum Genet. May 1, 2009; 84(5):1537-6605.

GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf., Tekin M,Xia XJ,Erdenetungalag R,Cengiz FB,White TW,Radnaabazar J,Dangaasuren B,Tastan H,Nance WE,Pandya A, Ann Hum Genet. March 1, 2010; 74(2):1469-1809.

Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing., Naranjo S,Voesenek K,de la Calle-Mustienes E,Robert-Moreno A,Kokotas H,Grigoriadou M,Economides J,Van Camp G,Hilgert N,Moreno F,Alsina B,Petersen MB,Kremer H,Gómez-Skarmeta JL, Hum Genet. October 1, 2010; 128(4):1432-1203.

RNA-Seq and microarray analysis of the Xenopus inner ear transcriptome discloses orthologous OMIM(®) genes for hereditary disorders of hearing and balance., Ramírez-Gordillo D,Powers TR,van Velkinburgh JC,Trujillo-Provencio C,Schilkey F,Serrano EE, BMC Res Notes. November 18, 2015; 8:1756-0500.

The Role of RNA-Binding Proteins in Vertebrate Neural Crest and Craniofacial Development., Forman TE,Dennison BJC,Fantauzzo KA, J Dev Biol. August 27, 2021; 9(3):2221-3759.