HOME PRODUCTS COMPANY CONTACT FAQ

Research Dictionary Pharma

Sign Up FREE or Login

Autosomal Recessive 10 Deafness

mutation in TMPRSS3

Also Known As:

Deafness, Autosomal Recessive 10; DFNB10

Networked: 9 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Deafness (Deaf Mutism)
2.	Autosomal Recessive Deafness
3.	Down Syndrome (Down's Syndrome)
4.	Nonsyndromic Deafness

Experts

1.	Antonarakis, S E: 4 articles (08/2001 - 12/2000)
2.	Rossier, C: 4 articles (08/2001 - 12/2000)
3.	Scott, H S: 4 articles (08/2001 - 12/2000)
4.	Wattenhofer, M: 4 articles (08/2001 - 12/2000)
5.	Asakawa, S: 3 articles (02/2001 - 12/2000)
6.	Berry, A: 3 articles (02/2001 - 12/2000)
7.	Bonne-Tamir, B: 3 articles (02/2001 - 12/2000)
8.	Kawasaki, K: 3 articles (02/2001 - 12/2000)
9.	Kudoh, J: 3 articles (02/2001 - 12/2000)
10.	Minoshima, S: 3 articles (02/2001 - 12/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Autosomal Recessive 10 Deafness:

1.	Serine Proteases (Serine Protease)IBA 02/01/2002 - "Recently a gene which encodes a transmembrane serine protease, TMPRSS3 or ECHOS1, was found to be responsible for both the DFNB8 and DFNB10 phenotypes. " 01/01/2001 - "Here we report the identification of a new transmembrane serine protease (TMPRSS3; also known as ECHOS1) expressed in many tissues, including fetal cochlea, which is mutated in the families used to describe both the DFNB10 and DFNB8 loci. " 01/01/2017 - "Mutations in the TMPRSS3 (transmembrane protease, serine 3) gene cause prelingual (DFNB10) or postlingual (DFNB8) deafness. " 06/01/2014 - "Mutations in TMPRSS3 encoding a transmembrane serine protease were reported to be associated with two different autosomal recessive nonsyndromic hearing loss (arNSHL) phenotypes, DFNB8 and DFNB10, in terms of residual hearing that may mandate different rehabilitation. " 06/01/2007 - "Mutations in the transmembrane protease, serine 3 (TMPRSS3) gene, encoding a transmembrane serine protease, cause autosomal recessive deafness childhood (DFNB8) or congenital onset (DFNB10). "
2.	Membrane Transport Proteins (Biological Pump)IBA 12/01/2000 - "Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency."
3.	Complementary DNA (cDNA)IBA 02/01/2001 - "In order to identify candidate genes for Down syndrome phenotypes or monogenic disorders that map to human chromosome 21q22.3, we have used genomic sequence and expressed sequence tags mapping to an autosomal recessive deafness (DFNB10) critical region to isolate a novel 2.5-kb cDNA that maps between TFF1 and D21S49. "
4.	alpha-glycerophosphoric acid (sodium glycerophosphate)IBA 12/01/2000 - "Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency."
5.	HyperglycerolemiaIBA 12/01/2000 - "Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency."

Therapies and Procedures

1.	Cochlear Implantation 02/26/2023 - "Patients with mutations in the TMPRSS3 gene suffer from recessive deafness DFNB8/DFNB10 for whom cochlear implantation is the only treatment option. "