D Altshuler
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Explore the profile of D Altshuler including associated specialties, affiliations and a list of published articles.
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23
Citations
3346
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Recent Articles
1.
Albrechtsen A, Grarup N, Li Y, Sparso T, Tian G, Cao H, et al.
Diabetologia
. 2012 Nov;
56(2):298-310.
PMID: 23160641
Aims/hypothesis: Human complex metabolic traits are in part regulated by genetic determinants. Here we applied exome sequencing to identify novel associations of coding polymorphisms at minor allele frequencies (MAFs) >1%...
2.
Jafar-Mohammadi B, Groves C, Gjesing A, Herrera B, Winckler W, Stringham H, et al.
Diabetologia
. 2010 Sep;
54(1):111-9.
PMID: 20878384
Aims/hypothesis: Rare mutations in the gene HNF4A, encoding the transcription factor hepatocyte nuclear factor 4α (HNF-4A), account for ~5% of cases of MODY and more frequent variants in this gene...
3.
Florez J, Jablonski K, McAteer J, Sandhu M, Wareham N, Barroso I, et al.
Diabetologia
. 2007 Dec;
51(3):451-7.
PMID: 18060660
Aims/hypothesis: Wolfram syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and deafness) is caused by mutations in the WFS1 gene. Recently, single nucleotide polymorphisms (SNPs) in WFS1 have been reproducibly associated...
4.
Franks P, Jablonski K, Delahanty L, Hanson R, Kahn S, Altshuler D, et al.
Diabetologia
. 2007 Sep;
50(12):2451-60.
PMID: 17898990
Aims/hypothesis: Peroxisome proliferator-activated receptor gamma (PPARgamma), encoded by the PPARG gene, regulates insulin sensitivity and adipogenesis, and may bind polyunsaturated fatty acids (PUFA) and thiazolidinediones in a ligand-dependent manner. The...
5.
Florez J, Sjogren M, Agapakis C, Burtt N, Almgren P, Lindblad U, et al.
Diabetologia
. 2007 Apr;
50(6):1209-17.
PMID: 17443311
Aims/hypothesis: Activation of the insulin receptor substrate-1 (IRS1) is a key initial step in the insulin signalling pathway. Despite several reports of association of the G972R polymorphism in its gene...
6.
Holmkvist J, Cervin C, Lyssenko V, Winckler W, Anevski D, Cilio C, et al.
Diabetologia
. 2006 Oct;
49(12):2882-91.
PMID: 17033837
Aims/hypothesis: Mutations in the hepatocyte nuclear factor 1-alpha gene (HNF-1alpha, now known as the transcription factor 1 gene [TCF1]) cause the most common monogenic form of diabetes, MODY3, but it...
7.
Sabeti P, Schaffner S, Fry B, Lohmueller J, Varilly P, Shamovsky O, et al.
Science
. 2006 Jun;
312(5780):1614-20.
PMID: 16778047
Positive natural selection is the force that drives the increase in prevalence of advantageous traits, and it has played a central role in our development as a species. Until recently,...
8.
Hunter D, Riboli E, Haiman C, Albanes D, Altshuler D, Chanock S, et al.
Nat Rev Cancer
. 2005 Dec;
5(12):977-85.
PMID: 16341085
Most cases of breast and prostate cancer are not associated with mutations in known high-penetrance genes, indicating the involvement of multiple low-penetrance risk alleles. Studies that have attempted to identify...
9.
Paracchini S, Pearce C, Kolonel L, Altshuler D, Henderson B, Tyler-Smith C
J Med Genet
. 2003 Nov;
40(11):815-9.
PMID: 14627670
Background: A Y chromosomal role in prostate cancer has previously been suggested by both cytogenetic findings and patterns of Y chromosomal gene expression. We took advantage of the well established...
10.
Hirschhorn J, Lindgren C, Daly M, Kirby A, Schaffner S, Burtt N, et al.
Am J Hum Genet
. 2001 Jun;
69(1):106-16.
PMID: 11410839
Genomewide linkage analysis has been extremely successful at identification of the genetic variation underlying single-gene disorders. However, linkage analysis has been less successful for common human diseases and other complex...