Regular ArticleMapping and Characterization of a Novel Cochlear Gene in Human and in Mouse: A Positional Candidate Gene for a Deafness Disorder, DFNA9☆,☆☆
References (56)
- et al.
Basic local alignment search tool
J. Mol. Biol.
(1990) - et al.
α1 chain of chick type VI collagen
J. Biol. Chem.
(1989) - et al.
Cloning of human type VII collagen
J. Biol. Chem.
(1994) - et al.
Type A modules: Interacting domains found in several non-fibrillar collagens and in other extracellular matrix proteins
Matrix
(1993) - et al.
The superfamily of proteins with von Willebrand factor type A-like domains: One theme common to components of extracellular matrix, hemostasis, cellular adhesion, and defense mechanisms
Blood
(1991) - et al.
NIGMS human/rodent somatic cell hybrid mapping panels 1 and 2
Genomics
(1993) - et al.
Complete primary structure of two splice variants of collagen XII, and assignment of α1(XII) collagen (COL12A1), α1(IX) collagen (COL9A1), and α1(XIX) collagen (COL19A1) to human chromosome 6q12–q13
Genomics
(1997) - et al.
The role of coiled-coil α-helices and disulfide bonds in the assembly and stabilization of cartilage matrix protein subunits
J. Biol. Chem.
(1995) - et al.
Structure and chromosomal location of the human gene encoding cartilage matrix protein
J. Biol. Chem.
(1990) - et al.
Localization of a collagen-interactive domain of human von Willebrand factor between amino acid residues Gly 911 and Glu 1,365
Blood
(1987)
A simple method for displaying the hydropathic character of a protein
J. Mol. Biol.
Isolation and characterization of two domains of human von Willebrand factor that interact with fibrillar collagen types I and III
J. Biol. Chem.
Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening
Genomics
Detection of specific sequences among DNA fragments separated by gel electrophoresis
J. Mol. Biol.
Structural features of cartilage matrix protein deduced from cDNA
Proc. Natl. Acad. Sci. USA
Purification of biologically active globin messenger RNA by chromatography on oligothymidylic acid-cellulose
Proc. Natl. Acad. Sci. USA
Hereditary hearing loss
Clinical Genetics—A Sourcebook for Physicians
Structural and functional features of the α3 chain indicate a bridging role for chicken collagen VI in connective tissues
Biochemistry
Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease
Biochemistry
Epidemiology, etiology, and genetic patterns
Audiogenic seizure prone (asp): A gene affecting behavior in linkage group VIII of the mouse
Science
Molecular cloning and characterization of an inner ear-specific structural protein
Science
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
Science
A comprehensive set of sequence analysis programs for the VAX
Nucleic Acids Res.
Multiple forms of chicken alpha 3 (VI) collagen chain generated by alternative splicing in type A repeated domains
J. Cell Biol.
Traces of her workings
Nature Genet.
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
Anal. Biochem.
Cited by (127)
Defining the spatial-molecular map of fibrotic tendon healing and the drivers of Scleraxis-lineage cell fate and function
2022, Cell ReportsCitation Excerpt :For example, in the integrated analysis, Cochlin (Coch) was identified as a defining gene for the native tendon cluster. Cochlin is an ECM protein that comprises the predominant non-collagen ECM component of the cochlea and vestibule of the inner ear,54 and Coch mutations lead to sensineuronal healing loss.55 While the role of Coch in tendon is not clear, recent work from Wunderli et al. demonstrates downregulation of Coch in an ex vivo model of hyper vascular/matrix unloading-mediated tendinopathy.56
Investigation of binding mechanism for human plasminogen Kringle 5 with its potential receptor vWA1 domain in Cochlin by bio-specific technologies and molecular dynamic simulation
2022, Bioorganic ChemistryCitation Excerpt :S1) [25], and further validated the candidates VDAC-1 and LG1 with the binding mechanism being investigated [23,25,26]. As another candidate protein, the extracellular matrix protein Cochlin is expressed on the inner ear, eyes, spleen, & thymus with relating to various diseases e.g. autosomal dominant deafness, glaucoma, spleen inflammation, and particular pathologic myopia with choroidal neovascularization [27–32]. Where the high-affinity peptide (GNSNT) is located on its vWA1 domain, which possesses about 200 amino acid residues and is accorded to the classic Rossmann topology.
Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants
2018, Journal of Molecular DiagnosticsThe barber's pole worm CAP protein superfamily - A basis for fundamental discovery and biotechnology advances
2015, Biotechnology AdvancesClinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family
2013, International Journal of Pediatric Otorhinolaryngology
- ☆
Nucleotide sequence data from this article have been deposited with the GenBank/EMBL Data Libraries under Accession Nos. AF006740 and AF006741.
- ☆☆
L. G. JacksonR. N. Schimke, Eds.
- 1
These authors contributed equally to this work.
- 2
To whom correspondence and reprint requests should be addressed at the Department of Pathology, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115. Telephone: (617) 732-7980. Fax: (617) 738-6996. E-mail: [email protected].