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Autosomal Recessive 42 Deafness

Also Known As:

Deafness, Autosomal Recessive 42; DFNB42

Networked: 7 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Deafness (Deaf Mutism)
2.	Autosomal Recessive 49 Deafness
3.	Nonsyndromic Deafness

Experts

1.	Furuse, Mikio: 3 articles (01/2015 - 02/2013)
2.	Borck, Guntram: 2 articles (02/2015 - 02/2011)
3.	Friedman, Thomas B: 2 articles (02/2015 - 02/2011)
4.	Higashi, Tomohito: 2 articles (01/2015 - 02/2013)
5.	Belyantseva, Inna A: 1 article (02/2015)
6.	Chandra, Rashmi: 1 article (02/2015)
7.	Fitzgerald, Tracy: 1 article (02/2015)
8.	Forge, Andrew: 1 article (02/2015)
9.	Ingham, Neil J: 1 article (02/2015)
10.	Liddle, Rodger A: 1 article (02/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Autosomal Recessive 42 Deafness:

1.	MARVEL Domain Containing 2 ProteinIBA 02/01/2015 - "Recessive mutations of TRIC (DFNB49) encoding tricellulin and ILDR1 (DFNB42) cause human nonsyndromic deafness. " 01/01/2015 - "Mutations in the genes encoding angulin-2/ILDR1 and tricellulin have been reported to cause human hereditary deafness DFNB42 and DFNB49, respectively. " 01/01/2014 - "Furthermore, mutations in tricellulin and angulin-2/ILDR1 genes cause autosomal recessive familial deafness, DFNB49 and DFNB42, respectively. " 02/15/2013 - "We further analyzed human ILDR1, mutations in which cause a familial deafness, DFNB42, and found that most DFNB42-associated ILDR1 mutant proteins were defective in recruitment of tricellulin. "
2.	MorpholinosIBA 12/01/2014 - "In order to uncover the pathology of DFNB42 deafness, we used the morpholino injection technique to establish an ildr1b-morphant zebrafish model. "
3.	Mutant Proteins (Protein, Mutant)IBA 02/15/2013 - "We further analyzed human ILDR1, mutations in which cause a familial deafness, DFNB42, and found that most DFNB42-associated ILDR1 mutant proteins were defective in recruitment of tricellulin. "
4.	Initiator Codon (Start Codon)IBA 02/11/2011 - "The identified ILDR1 variants include missense, nonsense, frameshift, and splice-site mutations as well as a start codon mutation in the family that originally defined the DFNB42 locus. "

Therapies and Procedures

1.	Therapeutics 01/01/2023 - "Combined AAV-mediated gene replacement therapy improves auditory function in a mouse model of human DFNB42 deafness."