Literature DB >> 10981618

Modifier genes of hereditary hearing loss.

T Friedman1, J Battey, B Kachar, S Riazuddin, K Noben-Trauth, A Griffith, E Wilcox.   

Abstract

Phenotypic variation between individuals with the same disease alleles may be attributable to the genotype at another locus, which is referred to as a modifier gene. Recent functional studies of modifier genes of hearing-loss loci have begun to refine our understanding of hearing processes and will guide the rational design of medical therapies for hearing loss.

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Year:  2000        PMID： 10981618     DOI： 10.1016/s0959-4388(00)00120-3

Source DB:  PubMed          Journal:  Curr Opin Neurobiol        ISSN： 0959-4388            Impact factor:   6.627


  12 in total

1.  A genetic approach to understanding inner ear function.

Authors:  J F Battey
Journal:  J Clin Invest       Date:  2000-12       Impact factor: 14.808

2.  Cochlear function in mice with only one copy of the prestin gene.

Authors:  M A Cheatham; J Zheng; K H Huynh; G G Du; J Gao; J Zuo; E Navarrete; P Dallos
Journal:  J Physiol       Date:  2005-09-15       Impact factor: 5.182

3.  Mutations of MYO6 are associated with recessive deafness, DFNB37.

Authors:  Zubair M Ahmed; Robert J Morell; Saima Riazuddin; Andrea Gropman; Shahzad Shaukat; Mussaber M Ahmad; Saidi A Mohiddin; Lameh Fananapazir; Rafael C Caruso; Tayyab Husnain; Shaheen N Khan; Sheikh Riazuddin; Andrew J Griffith; Thomas B Friedman; Edward R Wilcox
Journal:  Am J Hum Genet       Date:  2003-04-08       Impact factor: 11.025

4.  Multiple quantitative trait loci modify cochlear hair cell degeneration in the Beethoven (Tmc1Bth) mouse model of progressive hearing loss DFNA36.

Authors:  Yoshihiro Noguchi; Kiyoto Kurima; Tomoko Makishima; Martin Hrabé de Angelis; Helmut Fuchs; Gregory Frolenkov; Ken Kitamura; Andrew J Griffith
Journal:  Genetics       Date:  2006-04-28       Impact factor: 4.562

Review 5.  Strain background effects and genetic modifiers of hearing in mice.

Authors:  Kenneth R Johnson; Qing Yin Zheng; Konrad Noben-Trauth
Journal:  Brain Res       Date:  2006-03-31       Impact factor: 3.252

6.  Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.

Authors:  Z M Ahmed; S Riazuddin; S L Bernstein; Z Ahmed; S Khan; A J Griffith; R J Morell; T B Friedman; S Riazuddin; E R Wilcox
Journal:  Am J Hum Genet       Date:  2001-06-07       Impact factor: 11.025

7.  Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability.

Authors:  Aisha M Al-Shamsi; Salma Ben-Salem; Jozef Hertecant; Fatma Al-Jasmi
Journal:  Eur J Pediatr       Date:  2014-11-12       Impact factor: 3.183

8.  A QTL on Chr 5 modifies hearing loss associated with the fascin-2 variant of DBA/2J mice.

Authors:  Kenneth R Johnson; Chantal M Longo-Guess; Leona H Gagnon
Journal:  Mamm Genome       Date:  2015-06-20       Impact factor: 2.957

9.  Case Report: A Disease Phenotype of Rett Syndrome and Neurofibromatosis Resulting from A Bilocus Variant Combination.

Authors:  Udayakumar Narasimhan; Abhinayaa Janakiraman; Dedeepya Puskur; Fatima Shirly Anitha; Solomon Franklin Durairaj Paul; Teena Koshy
Journal:  J Autism Dev Disord       Date:  2022-02-05

10.  Mapping of genetic modifiers of Nr2e3 rd7/rd7 that suppress retinal degeneration and restore blue cone cells to normal quantity.

Authors:  Neena B Haider; Weidong Zhang; Ron Hurd; Akihiro Ikeda; Arne M Nystuen; Jürgen K Naggert; Patsy M Nishina
Journal:  Mamm Genome       Date:  2008-02-20       Impact factor: 2.957
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