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24 Autosomal Recessive Deafness

mutation in radixin

Also Known As:

Deafness, Autosomal Recessive, 24; DFNB24

Networked: 4 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Hearing Loss (Hearing Impairment)
2.	Nonsyndromic Deafness

Experts

1.	Smith, Richard J H: 3 articles (03/2010 - 05/2007)
2.	Hildebrand, Michael S: 2 articles (03/2010 - 03/2009)
3.	Kahrizi, Kimia: 2 articles (03/2010 - 03/2009)
4.	Najmabadi, Hossein: 2 articles (03/2010 - 03/2009)
5.	Ahmad, Wasim: 1 article (01/2011)
6.	Amin Ud Din, Mohammad: 1 article (01/2011)
7.	Ansar, Muhammad: 1 article (01/2011)
8.	Leal, Suzanne M: 1 article (01/2011)
9.	Lee, Kwanghyuk: 1 article (01/2011)
10.	Santos-Cortez, Regie Lyn P: 1 article (01/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to 24 Autosomal Recessive Deafness:

1.	cyclonite (RDX)IBA 01/01/2011 - "The RDX gene anchors cytoskeletal actin of stereocilia to hair cell transmembrane and is responsible for autosomal recessive nonsyndromic hearing impairment (ARNSHI) due to DFNB24. " 03/01/2009 - "A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family." 05/01/2007 - "Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus." 03/01/2010 - "In one Iranian family segregating autosomal recessive non-syndromic hearing loss (ARNSHL), we identified a homozygous variant in a predicted miR-96/182 binding site in the 3'UTR of the RDX (DFNB24) gene. " 05/01/2007 - "Sequence analysis of RDX in the DNA samples from the original DFNB24 family revealed a c.463C>T transition substitution that is predicted to truncate the protein in the FERM domain (F for 4.1, E for ezrin, R for radixin, and M for moesin) (p.Q155X). "
2.	3' Untranslated Regions (3' UTR)IBA 03/01/2010 - "In one Iranian family segregating autosomal recessive non-syndromic hearing loss (ARNSHL), we identified a homozygous variant in a predicted miR-96/182 binding site in the 3'UTR of the RDX (DFNB24) gene. "
3.	Proteins (Proteins, Gene)FDA Link 05/01/2007 - "Sequence analysis of RDX in the DNA samples from the original DFNB24 family revealed a c.463C>T transition substitution that is predicted to truncate the protein in the FERM domain (F for 4.1, E for ezrin, R for radixin, and M for moesin) (p.Q155X). "
4.	DNA (Deoxyribonucleic Acid)IBA 05/01/2007 - "Sequence analysis of RDX in the DNA samples from the original DFNB24 family revealed a c.463C>T transition substitution that is predicted to truncate the protein in the FERM domain (F for 4.1, E for ezrin, R for radixin, and M for moesin) (p.Q155X). "
5.	radixinIBA 05/01/2007 - "Sequence analysis of RDX in the DNA samples from the original DFNB24 family revealed a c.463C>T transition substitution that is predicted to truncate the protein in the FERM domain (F for 4.1, E for ezrin, R for radixin, and M for moesin) (p.Q155X). "
6.	moesinIBA 05/01/2007 - "Sequence analysis of RDX in the DNA samples from the original DFNB24 family revealed a c.463C>T transition substitution that is predicted to truncate the protein in the FERM domain (F for 4.1, E for ezrin, R for radixin, and M for moesin) (p.Q155X). "
7.	ezrinIBA 05/01/2007 - "Sequence analysis of RDX in the DNA samples from the original DFNB24 family revealed a c.463C>T transition substitution that is predicted to truncate the protein in the FERM domain (F for 4.1, E for ezrin, R for radixin, and M for moesin) (p.Q155X). "