Zobrazeno 1 - 10
of 559
pro vyhledávání: '"Francke Uta"'
Autor:
Eriksson Nicholas, Benton Geoffrey M, Do Chuong B, Kiefer Amy K, Mountain Joanna L, Hinds David A, Francke Uta, Tung Joyce Y
Publikováno v:
BMC Medical Genetics, Vol 13, Iss 1, p 53 (2012)
Abstract Background While some factors of breast morphology, such as density, are directly implicated in breast cancer, the relationship between breast size and cancer is less clear. Breast size is moderately heritable, yet the genetic variants leadi
Externí odkaz:
https://doaj.org/article/66ab525fe7204fd0b3a4a4b505d56a20
Autor:
Emond Mary, Morale Cecile Z, Ruzzo Walter L, Jaeger Jochen C, Yao Zizhen, Francke Uta, Milewicz Dianna M, Schwartz Stephen M, Mulvihill Eileen R
Publikováno v:
BMC Genomics, Vol 8, Iss 1, p 319 (2007)
Abstract Background Marfan syndrome (MFS) is a heritable connective tissue disorder caused by mutations in the fibrillin-1 gene. This syndrome constitutes a significant identifiable subtype of aortic aneurysmal disease, accounting for over 5% of asce
Externí odkaz:
https://doaj.org/article/3bf2061c0fa642af88fad0bcff320adb
Publikováno v:
BMC Medical Genetics, Vol 8, Iss 1, p 36 (2007)
Abstract Background MeCP2, methyl-CpG-binding protein 2, binds to methylated cytosines at CpG dinucleotides, as well as to unmethylated DNA, and affects chromatin condensation. MECP2 mutations in females lead to Rett syndrome, a neurological disorder
Externí odkaz:
https://doaj.org/article/b948a5a1d5e7407bb4c0371c786c3d7e
Autor:
Slater Howard R, Rowell Margaret, Francis David I, Northrop Emma, Albalwi Mohammed, Schüle Birgitt, Gardner RJ McKinlay, Francke Uta
Publikováno v:
BMC Medical Genetics, Vol 6, Iss 1, p 18 (2005)
Abstract Background Prader-Willi syndrome (MIM #176270; PWS) is caused by lack of the paternally-derived copies, or their expression, of multiple genes in a 4 Mb region on chromosome 15q11.2. Known mechanisms include large deletions, maternal unipare
Externí odkaz:
https://doaj.org/article/9ebf28b087c9442180993c15f53c70aa
Autor:
Canfield Theresa K, Luo Ping, Varadarajan Kartik R, Gartler Stanley M, Traynor Jeff, Francke Uta, Hansen R Scott
Publikováno v:
BMC Biology, Vol 2, Iss 1, p 21 (2004)
Abstract Background In mammals, there is evidence suggesting that methyl-CpG binding proteins may play a significant role in histone modification through their association with modification complexes that can deacetylate and/or methylate nucleosomes
Externí odkaz:
https://doaj.org/article/69a76bda7da3430496741f89a15eeec3
Publikováno v:
BMC Medical Genetics, Vol 3, Iss 1, p 12 (2002)
Abstract Background Females with the neurological disorder Rett syndrome are heterozygous for mutations in X-linked MECP2 that encodes methyl-CpG binding protein 2 (MeCP2) thought to act as a transcriptional repressor. To identify target genes for Me
Externí odkaz:
https://doaj.org/article/51ca28cba5964c4c8bb2385acedb7576
Publikováno v:
BMC Medical Genetics, Vol 2, Iss 1, p 11 (2001)
Abstract Background Mutations in the fibrillin -1 gene (FBN1) cause Marfan syndrome (MFS), an autosomal dominant multi-system connective tissue disorder. The 200 different mutations reported in the 235 kb, 65 exon-containing gene include only one fam
Externí odkaz:
https://doaj.org/article/1a5474f3e7254599b26d080ab84a69c8
Akademický článek
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Autor:
Kiefer, Amy K., Tung, Joyce Y., Do, Chuong B., Hinds, David A., Mountain, Joanna L., Francke, Uta, Eriksson, Nicholas
Myopia, or nearsightedness, is the most common eye disorder, resulting primarily from excess elongation of the eye. The etiology of myopia, although known to be complex, is poorly understood. Here we report the largest ever genome-wide association st
Externí odkaz:
http://arxiv.org/abs/1209.2089
Autor:
Eriksson, Nicholas, Wu, Shirley, Do, Chuong B., Kiefer, Amy K., Tung, Joyce Y., Mountain, Joanna L., Hinds, David A., Francke, Uta
The leaves of the Coriandrum sativum plant, known as cilantro or coriander, are widely used in many cuisines around the world. However, far from being a benign culinary herb, cilantro can be polarizing---many people love it while others claim that it
Externí odkaz:
http://arxiv.org/abs/1209.2096