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Literature DB >> 12408077

Clinical presentation of DFNB12 and Usher syndrome type 1D.

Julie M Bork¹, Robert J Morell, Shaheen Khan, Sheikh Riazuddin, Edward R Wilcox, Thomas B Friedman, Andrew J Griffith.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 2002 PMID： 12408077 DOI： 10.1159/000066829

Source DB: PubMed Journal: Adv Otorhinolaryngol ISSN： 0065-3071

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8 in total

1. Ush1c gene expression levels in the ear and eye suggest different roles for Ush1c in neurosensory organs in a new Ush1c knockout mouse.

Authors: Cong Tian; Xue Z Liu; Fengchan Han; Heping Yu; Chantal Longo-Guess; Bin Yang; Changjun Lu; Denise Yan; Qing Y Zheng
Journal: Brain Res Date: 2010-03-06 Impact factor: 3.252

2. Conditional deletion of calcium-modulating cyclophilin ligand causes deafness in mice.

Authors: Elizabeth C Bryda; Nathan T Johnson; Kevin K Ohlemiller; Cynthia L Besch-Williford; Elizabeth Moore; Richard J Bram
Journal: Mamm Genome Date: 2011-12-15 Impact factor: 2.957

3. A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells.

Authors: Martin Schwander; Wei Xiong; Joshua Tokita; Andrea Lelli; Heather M Elledge; Piotr Kazmierczak; Anna Sczaniecka; Anand Kolatkar; Tim Wiltshire; Peter Kuhn; Jeffrey R Holt; Bechara Kachar; Lisa Tarantino; Ulrich Müller
Journal: Proc Natl Acad Sci U S A Date: 2009-03-06 Impact factor: 11.205

Review 4. Cadherins and mechanotransduction by hair cells.

Authors: Ulrich Müller
Journal: Curr Opin Cell Biol Date: 2008-07-30 Impact factor: 8.382

5. High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss.

Authors: Kunio Mizutari; Hideki Mutai; Kazunori Namba; Yuko Miyanaga; Atsuko Nakano; Yukiko Arimoto; Sawako Masuda; Noriko Morimoto; Hirokazu Sakamoto; Kimitaka Kaga; Tatsuo Matsunaga
Journal: Orphanet J Rare Dis Date: 2015-05-13 Impact factor: 4.123

Clinical presentation of DFNB12 and Usher syndrome type 1D.

1. Ush1c gene expression levels in the ear and eye suggest different roles for Ush1c in neurosensory organs in a new Ush1c knockout mouse.

2. Conditional deletion of calcium-modulating cyclophilin ligand causes deafness in mice.

3. A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells.

Review 4. Cadherins and mechanotransduction by hair cells.

5. High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss.

6. Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss.

7. Identifying components of the hair-cell interactome involved in cochlear amplification.

Review 8. Molecular genetics of non-syndromic deafness.