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- 1From: Nature Genetics. (Vol. 41, Issue 9) Peer-ReviewedAlthough genome-wide analyses have identified somatic alterations contributing to the pathogenesis of pediatric acute lymphoblastic leukemia (ALL), few studies have identified germline variants conferring risk of this...
- 2From: Nature Genetics. (Vol. 41, Issue 9) Peer-ReviewedEpithelial ovarian cancer has a major heritable component, but the known susceptibility genes explain less than half the excess 'familial risk (1). We performed a genome-wide association study (GWAS) to identify common...
- 3From: Nature Genetics. (Vol. 41, Issue 9) Peer-ReviewedChondrodysplasia, or short-limbed dwarfism, is a distinctive trait shared by multiple breeds of domestic dogs. Elaine Ostrander and colleagues (Science, published online 16 July 2009; doi:10.1126/science.1173275) now...
- 4From: Nature Genetics. (Vol. 41, Issue 9) Peer-ReviewedThe reprogramming of somatic cells into induced pluripotent stem (iPS) cells upon overexpression of the transcription factors Oct4, Sox2, KIf4 and cMyc is inefficient. It has been assumed that the somatic differentiation...
- 5From: Nature Genetics. (Vol. 41, Issue 9) Peer-ReviewedN-myristoylation is a common form of co-translational protein fatty acylation resulting from the attachment of myristate to a required N-terminal glycine residue (1,2). We show that aberrantly acquired N-myristoylation...
- 6From: Nature Genetics. (Vol. 41, Issue 9) Peer-ReviewedMaking causative connections between genotypic and phenotypic variation is a major challenge for geneticists engaged in the study of human disease. A study drawing this connection for a type 1 diabetes risk locus now...
- 7From: Nature Genetics. (Vol. 41, Issue 9) Peer-ReviewedDandy-Walker malformation (DWM), the most common human cerebellar malformation, has only one characterized associated locus (1,2). Here we characterize a second DWM-linked locus on 6p25.3, showing that deletions or...
- 8From: Nature Genetics. (Vol. 41, Issue 9) Peer-ReviewedA landed aristocrat immersed to the waist in a salmon river might make an ideal biosensor and a sensitive environmental legislator. Unfortunately, this particular mode of regulation is no longer available in the United...
- 9From: Nature Genetics. (Vol. 41, Issue 9) Peer-ReviewedTimothy Ley, Elaine Mardis and colleagues recently reported the first complete sequence of an individual cancer genome (Nature 456,66-72; 2008) from a subject with acute myeloid leukemia (AML). The same group now reports...
- 10From: Nature Genetics. (Vol. 41, Issue 9) Peer-ReviewedUsing the Affymetrix 500K Mapping array and publicly available genotypes, we identified 18 SNPs whose allele frequency differed significantly(P < 1 x [10.sup.-5]) between pediatric acute lymphoblastic leukemia (ALL)...
- 11From: Nature Genetics. (Vol. 41, Issue 9) Peer-ReviewedMice homozygous for mutations in Dact1 (also called Dapper or Frodo) phenocopy human malformations involving the spine, genitourinary system and distal digestive tract. We traced this phenotype to disrupted germ-layer...
- 12From: Nature Genetics. (Vol. 41, Issue 9) Peer-ReviewedStefan Mundlos and colleagues report the identification of mutations in PYCR1 that cause autosomal recessive cutis laxa. PYCR1 encodes an enzyme involved in proline metabolism and localizes to mitochondria. Autosomal...
- 13From: Nature Genetics. (Vol. 41, Issue 9) Peer-ReviewedWe conducted a two-stage genome-wide association study of pancreatic cancer, a cancer with one of the lowest survival rates worldwide. We genotyped 558,542 SNPs in 1,896 individuals with pancreatic cancer and 1,939...
- 14From: Nature Genetics. (Vol. 41, Issue 9) Peer-ReviewedThe discovery that a cocktail of transcription factors can reprogram somatic cells into induced pluripotent stem (iPS) cells keeps revealing new secrets of cell fate specification. A new study with hematopoietic cells...
- 15From: Nature Genetics. (Vol. 41, Issue 9) Peer-ReviewedRe-examination of the families and the molecular genetic data by a neurologist and a geneticist who were not involved in the original study has revealed major differences from the published data in two of the three...
- 16From: Nature Genetics. (Vol. 41, Issue 9) Peer-ReviewedWe conducted a genome-wide association study on 969 bladder cancer cases and 957 controls from Texas. For fast-track validation, we evaluated 60 SNPs in three additional US populations and validated the top SNP in nine...
- 17From: Nature Genetics. (Vol. 41, Issue 9) Peer-ReviewedCystic fibrosis (CF) is a recessive genetic disease that results from defects in the CFTR gene that perturb the normal regulation of ion transport in the airway epithelium. In those with CF, the airway epithelial cells...
- 18From: Nature Genetics. (Vol. 41, Issue 9) Peer-ReviewedPhosphotidylinositol (PtdIns) signaling is tightly regulated both spatially and temporally by subcellularly localized PtdIns kinases and phosphatases that dynamically alter downstream signaling events (1). Joubert...
- 19From: Nature Genetics. (Vol. 41, Issue 9) Peer-ReviewedTo the Editor: In 2003, we reported that mutations in CLCN2, the gene encoding the voltage-gated chloride channel CIC-2, are associated with the four major subtypes of idiopathic generalized epilepsy in three pedigrees...
- 20From: Nature Genetics. (Vol. 41, Issue 9) Peer-ReviewedMichael McMullen and colleagues report a resource for mapping quantitative traits in maize (Science 325, 737-740; 2009). The nested association mapping (NAM) population is composed of 4,699 recombinant inbred lines,...