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1. SIRT1 gene polymorphisms are associated with growth traits in Nanyang cattle

Author:
Li, Mingxun; Sun, Xiaomei; Hua, Liushuai; Lai, Xinsheng; Lan, Xianyong; Lei, Chuzhao; Zhang, Chunlei; Qi, Xinglei; Chen, Hong
Source:
Molecular and cellular probes 2013 v.27 pp. 215-220
ISSN:
0890-8508
Subject:
DNA; DNA repair; adipogenesis; alleles; body weight changes; cattle; economic development; feedlots; gene silencing; growth traits; haplotypes; histone deacetylase; linkage disequilibrium; marker-assisted selection; single nucleotide polymorphism
Abstract:
... Growth is under complex genetic control and uncovering the molecular mechanisms how the genes and polymorphisms affect economic growth traits, are important for successful marker-assisted selection and more efficient management strategies in commercial cattle populations. SIRT1 is a NAD+-dependent deacetylase that belongs to the class III histone deacetylases. It plays an important role in numerou ...
DOI:
10.1016/j.mcp.2013.07.002

2. Hereditary motor and sensory neuropathy (HMSN) type X1 in an Argentinean family reveals independent GJB1/Cx32 mutations at the identical nucleotide position

Author:
Gerding, Wanda Maria; Koetting, Judith; Rey, Lucía Paola; Bibas Bonet, Hilda; Abdala, Mirta Esther; Mazzeo, Anna; Mostacciuolo, Maria Luisa; Arning, Larissa; Carrero-Valenzuela, Roque
Source:
Molecular and cellular probes 2013 v.27 pp. 118-121
ISSN:
0890-8508
Subject:
DNA; alleles; brothers; connexins; exons; females; gap junctions; heterozygosity; males; microsatellite repeats; mutation; patients; peripheral nervous system diseases; probability
Abstract:
... X-linked Charcot–Marie-Tooth disease (CMT Type X1, OMIM: 302800) represents a frequent cause of hereditary peripheral motor and sensory neuropathies and is associated with mutations in GJB1 encoding the gap junction beta 1 protein connexin 32 (Cx32). Studying an Argentinean family of Italian origin with seven affected males in three generations exhibiting clinical signs of CMT, eight obligate fema ...
DOI:
10.1016/j.mcp.2013.01.002