Valentina Labay
Otsuka (Japan)(JP)National Institutes of Health(US)
Publications by Year
Research Areas
Hearing, Cochlea, Tinnitus, Genetics, Wnt/β-catenin signaling in development and cancer, Hair Growth and Disorders, Hearing Loss and Rehabilitation, Mitochondrial Function and Pathology
Most-Cited Works
- → The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA(2001)583 cited
- → Mechanotransduction in mouse inner ear hair cells requires transmembrane channel–like genes(2011)453 cited
- → Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness(1999)275 cited
- → A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes(2003)180 cited
- → Topology of Transmembrane Channel-like Gene 1 Protein(2010)67 cited
- → The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia geneSLC19A2 of eight families(2000)62 cited
- → Atrichia with Papular Lesions Resulting from a Nonsense Mutation Within the Human Hairless Gene(1999)48 cited
- → Atrichia with papular lesions maps to 8p in the region containing the human hairless gene(1998)38 cited
- → Stereocilia: the long and the short of it(2003)25 cited
- → Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNASer(UCN) in sensorineural hearing loss(2007)16 cited