Abstract:
:We conducted genome-wide association studies of non-Hodgkin lymphoma using Illumina HumanHap550 BeadChips to identify subtype-specific associations in follicular, diffuse large B-cell and chronic lymphocytic leukemia/small lymphocytic lymphomas. We found that rs6457327 on 6p21.33 was associated with susceptibility to follicular lymphoma (FL; N = 189 cases, 592 controls) with validation in another 456 FL cases and 2,785 controls (combined allelic P = 4.7 x 10(-11)). The region of strongest association overlapped C6orf15 (STG), located near psoriasis susceptibility region 1 (PSORS1).
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Skibola CF,Bracci PM,Halperin E,Conde L,Craig DW,Agana L,Iyadurai K,Becker N,Brooks-Wilson A,Curry JD,Spinelli JJ,Holly EA,Riby J,Zhang L,Nieters A,Smith MT,Brown KMdoi
10.1038/ng.419subject
Has Abstractpub_date
2009-08-01 00:00:00pages
873-5issue
8eissn
1061-4036issn
1546-1718pii
ng.419journal_volume
41pub_type
杂志文章相关文献
NATURE GENETICS文献大全abstract::Current efforts in cellular disease modeling and regenerative medicine are limited by the paucity of cell types that can be generated in the laboratory. A new study introduces a computational framework, Mogrify, that uses network biology to predict combinations of transcription factors necessary for direct conversion ...
journal_title:Nature genetics
pub_type: 评论,新闻
doi:10.1038/ng.3516
更新日期:2016-03-01 00:00:00
abstract::We sequenced eight melanoma exomes to identify new somatic mutations in metastatic melanoma. Focusing on the mitogen-activated protein (MAP) kinase kinase kinase (MAP3K) family, we found that 24% of melanoma cell lines have mutations in the protein-coding regions of either MAP3K5 or MAP3K9. Structural modeling predict...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.1041
更新日期:2011-12-25 00:00:00
abstract::The mitochondrial (mt) DNA depletion syndromes (MDDS) are genetic disorders characterized by a severe, tissue-specific decrease of mtDNA copy number, leading to organ failure. There are two main clinical presentations: myopathic (OMIM 609560) and hepatocerebral (OMIM 251880). Known mutant genes, including TK2, SUCLA2,...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1765
更新日期:2006-05-01 00:00:00
abstract::The mRNA for the Duffy blood group antigen, the erythrocyte receptor for the Plasmodium vivax malaria parasite, has recently been cloned and shown to encode a widely expressed chemokine receptor. Here, we show that the Duffy antigen/chemokine receptor gene (DARC) is composed of a single exon and that most Duffy-negati...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0695-224
更新日期:1995-06-01 00:00:00
abstract::A genome-wide association scan of approximately 6.6 million genotyped or imputed variants in 882 Sardinian individuals with multiple sclerosis (cases) and 872 controls suggested association of CBLB gene variants with disease, which was confirmed in 1,775 cases and 2,005 controls (rs9657904, overall P = 1.60 x 10(-10),...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.584
更新日期:2010-06-01 00:00:00
abstract::Notch and the m9/10 gene (groucho) of the Enhancer of split (E(spI)) complex are members of the "Notch group" of genes, which is required for a variety of cell fate choices in Drosophila. We have characterized human cDNA clones encoding a family of proteins, designated TLE, that are homologous to the E(spI) m9/10 gene...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1092-119
更新日期:1992-10-01 00:00:00
abstract::c-Jun is a major component of the heterodimeric transcription factor AP-1 and is essential for embryonic development, as fetuses lacking Jun die at mid-gestation with impaired hepatogenesis and primary Jun-/- fibroblasts have a severe proliferation defect and undergo premature senescence in vitro. c-Jun and AP-1 activ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/6854
更新日期:1999-03-01 00:00:00
abstract::Refsum disease is an autosomal-recessively inherited disorder characterized clinically by a tetrad of abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells in the CSF. All patients exhibit ac...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1097-190
更新日期:1997-10-01 00:00:00
abstract::The genetic elements required to tune gene expression are partitioned in active and repressive nuclear condensates. Chromatin compartments include transcriptional clusters whose dynamic establishment and functioning depend on multivalent interactions occurring among transcription factors, cofactors and basal transcrip...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-020-00724-8
更新日期:2020-12-01 00:00:00
abstract::Sequence variants affecting blood lipids and coronary artery disease (CAD) may enhance understanding of the atherogenicity of lipid fractions. Using a large resource of whole-genome sequence data, we examined rare and low-frequency variants for association with non-HDL cholesterol, HDL cholesterol, LDL cholesterol, an...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3561
更新日期:2016-06-01 00:00:00
abstract::Genomic imprinting is an epigenetic modification that results in expression from only one of the two parental copies of a gene. Differences in methylation between the two parental chromosomes are often observed at or near imprinted genes. Beckwith-Wiedemann syndrome (BWS), which predisposes to cancer and excessive gro...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng988
更新日期:2002-11-01 00:00:00
abstract::A major obstacle to stem-cell gene therapy rests in the inability to deliver a gene into a therapeutically relevant fraction of stem cells. One way to circumvent this obstacle is to use selection. Vectors containing two linked genes serve as the basis for selection, with one gene encoding a selectable product and the ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/79194
更新日期:2000-09-01 00:00:00
abstract::A highly invasive form of non-typhoidal Salmonella (iNTS) disease has recently been documented in many countries in sub-Saharan Africa. The most common Salmonella enterica serovar causing this disease is Typhimurium (Salmonella Typhimurium). We applied whole-genome sequence-based phylogenetic methods to define the pop...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2423
更新日期:2012-11-01 00:00:00
abstract::Pallid (pa) is 1 of 13 platelet storage pool deficiency (SPD) mouse mutants. pa animals suffer from prolonged bleeding time, pigment dilution, kidney lysosomal enzyme elevation, serum alpha1-antitrypsin activity deficiency and abnormal otolith formation. As with other mouse mutants of this class, characterization of p...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/15507
更新日期:1999-11-01 00:00:00
abstract::During vertebrate embryogenesis, myogenic precursor cells of limb muscles delaminate from the ventro-lateral edge of the somitic dermomyotome and migrate to the limb buds, where they congregate into dorsal and ventral muscle masses. It has been proposed that the surrounding connective tissue controls muscle pattern fo...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/13843
更新日期:1999-10-01 00:00:00
abstract::We report germline missense mutations in ETV6 segregating with the dominant transmission of thrombocytopenia and hematologic malignancy in three unrelated kindreds, defining a new hereditary syndrome featuring thrombocytopenia with susceptibility to diverse hematologic neoplasms. Two variants, p.Arg369Gln and p.Arg399...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3177
更新日期:2015-02-01 00:00:00
abstract::Most errors that arise during DNA replication can be corrected by DNA polymerase proofreading or by post-replication mismatch repair (MMR). Inactivation of both mutation-avoidance systems results in extremely high mutability that can lead to error catastrophe. High mutability and the likelihood of cancer can be caused...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1172
更新日期:2003-07-01 00:00:00
abstract::Regulatory variants are often context specific, modulating gene expression in a subset of possible cellular states. Although these genetic effects can play important roles in disease, the molecular mechanisms underlying context specificity are poorly understood. Here, we identified shared quantitative trait loci (QTLs...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-018-0046-7
更新日期:2018-03-01 00:00:00
abstract::The genetic architectures of common, complex diseases are largely uncharacterized. We modeled the genetic architecture underlying genome-wide association study (GWAS) data for rheumatoid arthritis and developed a new method using polygenic risk-score analyses to infer the total liability-scale variance explained by as...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2232
更新日期:2012-03-25 00:00:00
abstract::A new study shows that HOXB13 is preferentially recruited to the risk allele of a prostate cancer-associated SNP, enhancing the expression of RFX6, a driver of prostate cancer cell migration and predictor of disease progression. The work illustrates how a single risk locus contributes both to prostate cancer incidence...
journal_title:Nature genetics
pub_type: 评论,杂志文章
doi:10.1038/ng.2881
更新日期:2014-02-01 00:00:00
abstract::High resolution linkage maps have proven to be invaluable tools in genetic investigations. We have assembled a collection of genetic maps constructed from primary data collected from investigators performing genotyping using the Centre Etude Polymorphism Humain (CEPH) reference pedigree panel. These maps were construc...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0494-391
更新日期:1994-04-01 00:00:00
abstract::Charcot-Marie-Tooth disease type 1B (CMT1B) is genetically linked to chromosome 1q21-23. The major peripheral myelin protein gene, P0, has been cloned and localized to the same chromosomal region. P0 is a 28 kDa glycoprotein involved in the compaction of the multilamellar myelin sheet and accounts for more than half o...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0993-35
更新日期:1993-09-01 00:00:00
abstract::The initiation of DNA replication involves a minimum of four factors: a specific DNA sequence (origin), an initiator protein which binds to the origin, a helicase that unwinds the origin and a protein that binds single-stranded DNA that stabilizes the unwound origin. In eukaryotic cells, the origin recognition complex...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/1263
更新日期:1998-08-01 00:00:00
abstract::We carried out a genome-wide association study of lung cancer (3,259 cases and 4,159 controls), followed by replication in 2,899 cases and 5,573 controls. Two uncorrelated disease markers at 5p15.33, rs402710 and rs2736100 were detected by the genome-wide data (P = 2 x 10(-7) and P = 4 x 10(-6)) and replicated by the ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.254
更新日期:2008-12-01 00:00:00
abstract::Animal development is an extremely robust process resulting in stereotyped outcomes. Canalization is a design principle wherein developmental pathways are stabilized to increase phenotypic reproducibility. Recent revelations into microRNA (miRNA) function suggest that miRNAs act as key players in canalizing genetic pr...
journal_title:Nature genetics
pub_type: 杂志文章,评审
doi:10.1038/ng1803
更新日期:2006-06-01 00:00:00
abstract::Peripheral myelin protein PMP22 has been suggested to have a role in peripheral nerve myelination and cell proliferation. Defects at the PMP22 locus are associated with peripheral neuropathies such as Charcot-Marie-Tooth disease type 1A. We now demonstrate that mice devoid of Pmp22 are retarded in the onset of myelina...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1195-274
更新日期:1995-11-01 00:00:00
abstract::Mitotic chromosome segregation is facilitated by the cohesin complex, which maintains physical connections between sister chromatids until anaphase. Meiotic cell division is considerably more complex, as cohesion must be released sequentially to facilitate orderly segregation of chromosomes at both meiosis I and meios...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1672
更新日期:2005-12-01 00:00:00
abstract::Sequence variation in human genes is largely confined to single-nucleotide polymorphisms (SNPs) and is valuable in tests of association with common diseases and pharmacogenetic traits. We performed a systematic and comprehensive survey of molecular variation to assess the nature, pattern and frequency of SNPs in 75 ca...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/10297
更新日期:1999-07-01 00:00:00
abstract::Transcriptome-wide association studies using predicted expression have identified thousands of genes whose locally regulated expression is associated with complex traits and diseases. In this work, we show that linkage disequilibrium induces significant gene-trait associations at non-causal genes as a function of the ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-019-0367-1
更新日期:2019-04-01 00:00:00
abstract::Schwartz-Jampel syndrome (SJS1) is a rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal dysplasia, resulting in reduced stature, kyphoscoliosis, bowing of the diaphyses and irregular epiphyses. Electromyographic investigations reveal repetitive m...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/82638
更新日期:2000-12-01 00:00:00