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Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.

published in: Human Mutation

date of publication: 2008-06-01

language: English

main subject: Usher syndrome

Cites articles 35

Date

Title

Authors

2006-09

Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%
2006-03-31

Strain background effects and genetic modifiers of hearing in mice
2006-03-01

Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I

Amparo Navea
2005-01-20

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population
2004-07-01

Genetic insights into the morphogenesis of inner ear hair cells

Gregory I Frolenkov, Inna A Belyantseva, Thomas B. Friedman
2004-03-31

Cadherin 23 is a component of the tip link in hair-cell stereocilia
2004-03-31

Mutations in cadherin 23 affect tip links in zebrafish sensory hair cells.

Gerd-Jörg Rauch
2003-08-10

Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss
2003-03-01

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

Christine Petit, Sedigheh Delmaghani, Aziz El-Amraoui, Sellama Nadifi, Dominique Weil, Mirna Mustapha, Avital Adato, Hiromichi Yonekawa
2002-10-29

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family

Lies H. Hoefsloot, Cor W. R. J. Cremers, Hannie Kremer, Frans P M Cremers, Patrick L M Huygen, Arjan P M de Brouwer, Ronald J E Pennings, Lisa M Astuto, William J Kimberling
2002-12-01

Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle

Anne Houdusse-Juillé, Uwe Wolfrum, Christine Petit, Karl R. Fath, Spencer Shorte, Amel Bahloul, Aziz El-Amraoui, Isabelle Perfettini, Batiste Boëda, Richard J Goodyear, Laurent Daviet, Rein Jan Piso
2002-10-29

The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions.
2002-07-01

Stereocilia defects in waltzer (Cdh23), shaker1 (Myo7a) and double waltzer/shaker1 mutant mice

Karen Steel
2002-06-19

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness

Robert J. Morell, Carmen Ayuso, Rajkumar Ramesar, Thomas B. Friedman
2002-03-01

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

Andreas Janecke
2001-08-01

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F

Markus H Kuehn, Richard P Woychik
2001-07

Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F

Thomas B. Friedman
2001-03-23

Intracellular functions of N-linked glycans
2001-01-01

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

Alfredo Ramirez
2001-01-01

Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D
2000-11-21

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23

Thomas B. Friedman
2000-09-01

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene
2000-09

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

Christine Petit, Rima Slim, Bronya J. B. Keats
2000-01-01

Cadherins: crucial regulators of structure and function in reproductive tissues
1998-01-01

Protein N-glycosylation: molecular genetics and functional significance
1998

Epidemiology of Usher Syndrome in Valencia and Spain

Carmen Espinós
1996-10-01

Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.
1996-07-01

Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22.
1995-03-02

Defective myosin VIIA gene responsible for Usher syndrome type 1B

Parry Guilford
1995-01-01

Clinical and molecular genetics of Usher syndrome.
1994-03-01

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

Richard J Smith, Bronya J. B. Keats
1991-10-01

Usher syndrome: results of a screening program in Colombia.

Juan Carlos Silva

Article - wd:Q36683788

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