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Autosomal Recessive 48 Deafness

Also Known As:

Deafness, Autosomal Recessive 48; DFNB48

Networked: 3 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Usher Syndromes (Usher Syndrome)
2.	Deafness (Deaf Mutism)
3.	Nonsyndromic Deafness
4.	Blindness (Hysterical Blindness)

Experts

1.	Aghaie, Asadollah: 1 article (12/2017)
2.	Avan, Paul: 1 article (12/2017)
3.	Azaiez, Hela: 1 article (12/2017)
4.	Bahloul, Amel: 1 article (12/2017)
5.	Booth, Kevin T: 1 article (12/2017)
6.	Bowl, Michael R: 1 article (12/2017)
7.	Brown, Steven Dm: 1 article (12/2017)
8.	Cortese, Matteo: 1 article (12/2017)
9.	Dupont, Typhaine: 1 article (12/2017)
10.	Dégardin, Julie: 1 article (12/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Autosomal Recessive 48 Deafness:

1.	IntegrinsIBA 04/01/2013 - "Mutations in CIB2 calcium and integrin-binding protein disrupt auditory hair cell calcium homeostasis in Usher syndrome type 1J and non-syndromic deafness DFNB48." 11/01/2012 - "Here, we report that mutations in CIB2, which encodes a calcium- and integrin-binding protein, are associated with nonsyndromic deafness (DFNB48) and Usher syndrome type 1J (USH1J). " 11/01/2012 - "Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48." 12/01/2017 - "Defects of CIB2, calcium- and integrin-binding protein 2, have been reported to cause isolated deafness, DFNB48 and Usher syndrome type-IJ, characterized by congenital profound deafness, balance defects and blindness. "
2.	Carrier Proteins (Binding Protein)IBA 04/01/2013 - "Mutations in CIB2 calcium and integrin-binding protein disrupt auditory hair cell calcium homeostasis in Usher syndrome type 1J and non-syndromic deafness DFNB48." 11/01/2012 - "Here, we report that mutations in CIB2, which encodes a calcium- and integrin-binding protein, are associated with nonsyndromic deafness (DFNB48) and Usher syndrome type 1J (USH1J). " 11/01/2012 - "Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48." 12/01/2017 - "Defects of CIB2, calcium- and integrin-binding protein 2, have been reported to cause isolated deafness, DFNB48 and Usher syndrome type-IJ, characterized by congenital profound deafness, balance defects and blindness. "
3.	CalciumIBA 11/01/2012 - "Consistent with molecular modeling predictions of calcium binding, CIB2 significantly decreased the ATP-induced calcium responses in heterologous cells, whereas mutations in deafness DFNB48 altered CIB2 effects on calcium responses. " 04/01/2013 - "Mutations in CIB2 calcium and integrin-binding protein disrupt auditory hair cell calcium homeostasis in Usher syndrome type 1J and non-syndromic deafness DFNB48." 11/01/2012 - "Here, we report that mutations in CIB2, which encodes a calcium- and integrin-binding protein, are associated with nonsyndromic deafness (DFNB48) and Usher syndrome type 1J (USH1J). " 11/01/2012 - "Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48." 12/01/2017 - "Defects of CIB2, calcium- and integrin-binding protein 2, have been reported to cause isolated deafness, DFNB48 and Usher syndrome type-IJ, characterized by congenital profound deafness, balance defects and blindness. "
4.	Adenosine Triphosphate (ATP)IBA 11/01/2012 - "Consistent with molecular modeling predictions of calcium binding, CIB2 significantly decreased the ATP-induced calcium responses in heterologous cells, whereas mutations in deafness DFNB48 altered CIB2 effects on calcium responses. "