PAPER Atwal RS, Desmond CR, Caron N, Maiuri T, Xia J, Sipione S, Truant R
SEARCH RESULTS
331254 RESULTS
PAPER Krobitsch S, Lindquist S
Aggregation of huntingtin in yeast varies with the length of the polyglutamine expansion and the expression of chaperone proteins.
Proc Natl Acad Sci U S A. 2000 Feb 15;97(4):1589-94. PubMed: 10677504PAPER Fry AE, Ghansa A, Small KS, Palma A, Auburn S, Diakite M, Green A, Campino S, Teo YY, Clark TG, Jeffreys AE, Wilson J, Jallow M, Sisay-Joof F, Pinder M, Griffiths MJ, Peshu N, Williams TN, Newton CR, Marsh K, Molyneux ME, Taylor TE, Koram KA, Oduro AR, Rogers WO, Rockett KA, Sabeti PC, Kwiatkowski DP
Positive selection of a CD36 nonsense variant in sub-Saharan Africa, but no association with severe malaria phenotypes.
Hum Mol Genet. 2009 Jul 15;18(14):2683-92. PubMed: 19403559PAPER Mayne J, Dewpura T, Raymond A, Bernier L, Cousins M, Ooi TC, Davignon J, Seidah NG, Mbikay M, Chrétien M
Novel loss-of-function PCSK9 variant is associated with low plasma LDL cholesterol in a French-Canadian family and with impaired processing and secretion in cell culture.
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The costs of human inbreeding and their implications for variations at the DNA level.
Nat Genet. 1994 Oct;8(2):117-21. PubMed: 7842008PAPER Uzumcu A, Norgett EE, Dindar A, Uyguner O, Nisli K, Kayserili H, Sahin SE, Dupont E, Severs NJ, Leigh IM, Yuksel-Apak M, Kelsell DP, Wollnik B
Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome.
J Med Genet. 2006 Feb;43(2):e5. PubMed: 16467215PAPER Pelak K, Shianna KV, Ge D, Maia JM, Zhu M, Smith JP, Cirulli ET, Fellay J, Dickson SP, Gumbs CE, Heinzen EL, Need AC, Ruzzo EK, Singh A, Campbell CR, Hong LK, Lornsen KA, McKenzie AM, Sobreira NL, Hoover-Fong JE, Milner JD, Ottman R, Haynes BF, Goedert JJ, Goldstein DB
The characterization of twenty sequenced human genomes.
PLoS Genet. 2010 Sep;6(9) PubMed: 20838461Huntington’s Strategies Tap Transcription, Htt Phosphorylation
RESEARCH NEWS 2012-02-20 Research News Two potential approaches for tackling Huntington’s disease come to the fore in this week’s literature—an intriguing mechanism begging for a drug, and a promising compound with an unknown mechanism. In the February 17 Cell, researchers led by
Are Broken Genes Common in Humans?
RESEARCH NEWS 2012-02-20 Research News Previous genome studies suggest that all of us possess a few hundred non-functional genes. Is this number accurate, and if so, what does it mean for human health? In the February 17 Science, a large international group led by Daniel MacArthu