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2 results on '"Marcus, Barak"'

1. Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII

Author

Feldshtein, Maya, Elkrinawi, Suliman, Yerushalmi, Baruch, Marcus, Barak, Vullo, Daniela, Romi, Hila, Ofir, Rivka, Landau, Daniel, Sivan, Sara, Supuran, Claudiu T., and Birk, Ohad S.

Subjects
Bedouins -- Genetic aspects, Bedouins -- Physiological aspects, Dehydration (Physiology) -- Analysis, Gene mutations -- Analysis, Human genome -- Research, Linkage (Genetics) -- Analysis, Perspiration -- Health aspects, Perspiration -- Genetic aspects, Perspiration -- Demographic aspects, Biological sciences
Abstract

A consanguineous Israeli Bedouin kindred with autosomal-recessive hyperchlohidrosis characterized by the symptoms of visible salt precipitates after sweating, a preponderance to hyponatremic dehydration, and poor feeding and slow weight gain at infancy is reported. The findings from genome-wide linkage analysis demonstrated that the phenotype is attributed to a homozygous mutation in CA12, encoding carbonic anhydrase XII.

Published
2010

2. Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy

Author

Agamy, Orly, Zeev, Bruria Ben, Lev, Dorit, Marcus, Barak, Fine, Dina, Su, Dan, Narkis, Ginat, Ofir, Rivka, Hoffmann, Chen, Leshinsky-Silver, Esther, Flusser, Hagit, Sivan, Sara, Soll, Dieter, Lerman-Sagie, Tally, and Birk, Ohad S.

Subjects
Brain diseases -- Genetic aspects, Brain diseases -- Physiological aspects, Gene mutations -- Analysis, Mental retardation -- Genetic aspects, Selenocysteine -- Chemical properties, Biological sciences
Abstract

A study demonstrates that mutations in the SepSecS gene in the essential enzyme catalyst disrupt the sole route to the biosynthesis of selenocysteine (Sec) amino acid. The mutations are thereby seen to cause autosomal recessive progressive cerebello-cerebral atrophy (PCCA) in humans due to selenium deficiency since selenium in proteins in found in the form of Sec.

Published
2010

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