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Familial Dysautonomia
Oddoux C, Reich E, Axelrod F, Maayan C, Blumenfeld A, Slaugenhaupt SA, Gusella JF, Ostrer H. Prenatal diagnostic testing using for familial dysautonomia using linked genetic markers. Prenatal Diagnosis 1995;15:817-826.
Eng CM, Slaugenhaupt SA, Blumenfeld A, Axelrod FB, Gusella JF, and Desnick RJ. Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33. Am J Med Genet 1995; 59:349-355.
Blumenfeld A, Slaugenhaupt SA, Liebert CB, Temper V, Maayan C, Gill S, Lucente DE, Idelson M, MacCormack K, Monahan MA, Mull J, Meyne M, Mendillo M, Schiripo T, Mishori E, Breakefield X, Axelrod FB, Gusella JF. Precise genetic mapping and haplotype analysis of the familial dysautonomia gene region on human chromosome 9q31. Am J Hum Genet 1999; 64:1110-1118.
Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins CM, Makalowska I, Brownstein MJ, Krappmann D, Scheidereit C, Maayan C, Axelrod FB, Gusella JF. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet 2001; 68(3):598-605.
Cuajungco MP, Leyne M, Mull J, Gill SP, Gusella JF, Slaugenhaupt SA. Cloning, characterization, and genomic structure of the mouse Ikbkap gene. DNA and Cell Biology. 2001; 20(9):579-86.
Slaugenhaupt SA and Gusella JF. 2002. Familial Dysautonomia. Current Opinions in Genetics and Development, 12: 307-311.
Cuajungco M, Leyne M, Mull J, Gill S, Lu W, Zagzag D, Axelrod FB, Maayan C, Gusella J, Slaugenhaupt SA. Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with Familial Dysautonomia. Am J Hum Genet 2003; 72(3):749-58.
Leyne M, Mull J, Gill SP, Cuajungco MP, Oddoux C, Blumenfeld A, Maayan C, Gusella JF, Axelrod FB, Slaugenhaupt SA. Identification of the first non-Jewish mutation in familial dysautonomia. Am J Med Genet 2003; 118A(4):305-8.
Slaugenhaupt SA, Mull J, Leyne M, Cuajungco MP, Gill SP, Hims M, Quintero F, Axelrod FB, Gusella JF. Rescue of a human mRNA splicing defect by the plant cytokinin kinetin. Hum Mol Genet 2004;13(4):429-36.
Axelrod FB, Goldberg JD, Rolnitzky L, Mull J, Mann SP, Gold von Simson G, Berlin D, Slaugenhaupt SA. Fludrocortisone in patients with familial dysautonomia--assessing effect on clinical parameters and gene expression. Clin Auton Res. 2005;15(4):284-91.
Mucolipidosis Type IV
Slaugenhaupt SA, Acierno JS, Helbling LA, Bove C, Goldin E, Bach G, Schiffmann R, Gusella JF. Mapping of the Mucolipidosis Type IV Gene to Chromosome 19p and Definition of Founder Haplotypes. Am J Hum Genet 1999; 65:773-778.
Sun M, Goldin E, Stahl S, Falardeau JL, Kennedy JC, Acierno JS, Bove C, Kaneski CR, Nagle J, Bromley MC, Colman M, Schiffmann R, Slaugenhaupt SA. Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. Hum Molec Genet 2000; 9(17):2471-2478.
Acierno JS jr, Kennedy JC, Falardeau JL, Leyne M, Bromley MC, Colman MW, Sun M, Bove C, Ashworth LK, Chadwick LH, Schiripo T, Ma S, Goldin E, Schiffmann R, Slaugenhaupt SA. A physical and transcript map of the mcoln1 gene region on human chromosome 19p13.3-p13.2. Genomics. 2001; 73(2):203-10.
Falaradeau J, Kennedy J, Acierno JS, Sun M, Stahl S, Goldin E, Slaugenhaupt SA.. Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans. BMC Genomics 2002; 3:3.
Altarescu G, Sun M, Moore DF, Smith JA, Wiggs EA, Solomon BI, Patronas NJ, Frei KP, Gupta S, Kaneski CR, Quarrell OW, Slaugenhaupt SA, Goldin E, Schiffmann R. The Neurogenetics of MLIV. Neurology 2002; 59(3):306-13.
Slaugenhaupt SA. 2002. The Molecular basis of Mucolipidosis Type IV. Curr Molec Med. 2(445-450).
LaPlante JM, Falardeau J, Sun M, Kanazirska M, Brown EM, Slaugenhaupt SA, Vassilev PM. Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway. FEBS Lett. 2002; 532(1-2):183-7.
Slaugenhaupt SA. 2002. The Molecular basis of Mucolipidosis Type IV. Curr Molec Med. 2(445-450).
LaPlante JM, Ye CP, Quinn SJ, Goldin E, Brown EM, Slaugenhaupt SA, Vassilev PM. Functional links between mucolipin-1 and Ca2+dependent membrane trafficking in mucolipidosis IV. Biochem Biophys Res Commun. 2004;322(4):1384-91.
Mitral Valve Prolapse
Freed LA, Acierno JS Jr, Dai D, Leyne M, Marshall JE, Nesta F, Levine RA, Slaugenhaupt SA. A locus for autosomal dominant mitral valve prolapse on chromosome 11p15.4. Am J Hum Genet 2003; 72:1551-9.
Nesta F, Leyne M, Yosefy C, Simpson C, Dai D, Marshall JE, Hung J, Slaugenhaupt SA, Levine RA. New locus for autosomal dominant mitral valve prolapse on chromosome 13: clinical insights from genetic studies. Circulation. 2005;112(13):2022-30.
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