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USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.
Adato A, Vreugde S, Joensuu T, Avidan N, Hamalainen R, Belenkiy O, Olender T, Bonne-Tamir B, Ben-Asher E, Espinos C, Millán JM, Lehesjoki AE, Flannery JG, Avraham KB, Pietrokovski S, Sankila EM, Beckmann JS, Lancet D. Adato A, et al. Among authors: avidan n. Eur J Hum Genet. 2002 Jun;10(6):339-50. doi: 10.1038/sj.ejhg.5200831. Eur J Hum Genet. 2002. PMID: 12080385
CATSPER2, a human autosomal nonsyndromic male infertility gene.
Avidan N, Tamary H, Dgany O, Cattan D, Pariente A, Thulliez M, Borot N, Moati L, Barthelme A, Shalmon L, Krasnov T, Ben-Asher E, Olender T, Khen M, Yaniv I, Zaizov R, Shalev H, Delaunay J, Fellous M, Lancet D, Beckmann JS. Avidan N, et al. Eur J Hum Genet. 2003 Jul;11(7):497-502. doi: 10.1038/sj.ejhg.5200991. Eur J Hum Genet. 2003. PMID: 12825070
A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel.
Lahat H, Pras E, Olender T, Avidan N, Ben-Asher E, Man O, Levy-Nissenbaum E, Khoury A, Lorber A, Goldman B, Lancet D, Eldar M. Lahat H, et al. Among authors: avidan n. Am J Hum Genet. 2001 Dec;69(6):1378-84. doi: 10.1086/324565. Epub 2001 Oct 25. Am J Hum Genet. 2001. PMID: 11704930 Free PMC article.
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.
Dgany O, Avidan N, Delaunay J, Krasnov T, Shalmon L, Shalev H, Eidelitz-Markus T, Kapelushnik J, Cattan D, Pariente A, Tulliez M, Crétien A, Schischmanoff PO, Iolascon A, Fibach E, Koren A, Rössler J, Le Merrer M, Yaniv I, Zaizov R, Ben-Asher E, Olender T, Lancet D, Beckmann JS, Tamary H. Dgany O, et al. Among authors: avidan n. Am J Hum Genet. 2002 Dec;71(6):1467-74. doi: 10.1086/344781. Epub 2002 Nov 14. Am J Hum Genet. 2002. PMID: 12434312 Free PMC article.
Identification of the gene causing mucolipidosis type IV.
Bargal R, Avidan N, Ben-Asher E, Olender Z, Zeigler M, Frumkin A, Raas-Rothschild A, Glusman G, Lancet D, Bach G. Bargal R, et al. Among authors: avidan n. Nat Genet. 2000 Sep;26(1):118-23. doi: 10.1038/79095. Nat Genet. 2000. PMID: 10973263
46 results