Methylthioadenosine phosphorylase (MTAP) in hearing: Gene disruption by chromosomal rearrangement in a hearing impaired individual and model organism analysis
- 21 June 2007
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 143A (14) , 1630-1639
- https://doi.org/10.1002/ajmg.a.31724
Abstract
No abstract availableKeywords
This publication has 34 references indexed in Scilit:
- Sulphonylurea sensitivity and enriched expression implicate inward rectifier K+ channels inDrosophila melanogasterrenal functionJournal of Experimental Biology, 2005
- Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis SyndromeAmerican Journal of Human Genetics, 2005
- Hearing in Drosophila: Development of Johnston's organ and emerging parallels to vertebrate ear developmentDevelopmental Dynamics, 2005
- Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypesProceedings of the National Academy of Sciences, 2003
- Inwardly Rectifying K+ (Kir) Channels inDrosophilaJournal of Biological Chemistry, 2002
- The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndromeNature Genetics, 2001
- Genetically Similar Transduction Mechanisms for Touch and Hearing in DrosophilaJournal of Neuroscience, 2000
- Feeling the vibes: chordotonal mechanisms in insect hearingCurrent Opinion in Neurobiology, 1999
- A structural determinant of differential sensitivity of cloned inward rectifier K+ channels to intracellular spermineFEBS Letters, 1994
- The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGKHuman Genetics, 1988