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A second generation human haplotype map of over 3.1 million SNPs
TLDR
The Phase II HapMap is described, which characterizes over 3.1 million human single nucleotide polymorphisms genotyped in 270 individuals from four geographically diverse populations and includes 25–35% of common SNP variation in the populations surveyed, and increased differentiation at non-synonymous, compared to synonymous, SNPs is demonstrated. Expand
Genetic alterations during colorectal-tumor development.
TLDR
It is found that ras-gene mutations occurred in 58 percent of adenomas larger than 1 cm and in 47 percent of carcinomas, which are consistent with a model of colorectal tumorigenesis in which the steps required for the development of cancer often involve the mutational activation of an oncogene coupled with the loss of several genes that normally suppress tumors. Expand
Positional Cloning of the Human Quantitative Trait Locus Underlying Taste Sensitivity to Phenylthiocarbamide
TLDR
A small region on chromosome 7q that shows strong linkage disequilibrium between single-nucleotide polymorphism (SNP) markers and PTC taste sensitivity in unrelated subjects and a single gene that encodes a member of the TAS2R bitter taste receptor family is identified. Expand
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
TLDR
A sub-microscopic deletion of chromosome 20q13.3 that co-segregates with seizures in a BFNC family is identified, identifying one encoding a novel voltage-gated potassium channel, KCNQ2, which belongs to a new KQT-like class of potassium channels. Expand
Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
TLDR
Hemizygosity at the elastin locus is identified using genetic analyses in four familial and five sporadic cases of Williams syndrome, indicating that deletions involving oneElastin allele cause WS and implicate elast in hemizygosa in the pathogenesis of the disease. Expand
A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes.
TLDR
A multitiered, case-control association study of psoriasis in three independent sample sets of white North American individuals found a highly significant association with an IL12B 3'-untranslated-region SNP (rs3212227), confirming the results of a small Japanese study. Expand
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy
TLDR
Mutational analysis of ABCR in STGD families revealed a total of 19 different mutations including homozygous mutations in two families with consanguineous parentage, indicating that ABCR is the causal gene of STGD/FFM. Expand
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
TLDR
KCNQ2, KCNQ3 and undiscovered genes of the same family of K+ channels are strong candidates for other IGEs, and a missense mutation in the critical pore region in perfect co-segregation with the BFNC phenotype is found. Expand
Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics.
TLDR
Detailed tables were derived to provide practical total and low-density lipoprotein blood cholesterol screening criteria for diagnosing FH in different screening settings and specific age groups. Expand
Future research directions in acute lung injury: summary of a National Heart, Lung, and Blood Institute working group.
TLDR
Improved understanding of disease heterogeneity through use of evolving biologic, genomic, and genetic approaches should provide major new insights into pathogenesis of ALI. Expand
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