Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.

abstract：:G protein-coupled receptors (GPCRs) participate in the most common signal transduction system at the plasma membrane. The wide distribution of heterotrimeric G proteins in the internal membranes suggests that a similar signalling mechanism might also be used at intracellular locations. We provide here structural evide...

journal_title：Nature genetics

authors： Schiaffino MV,d'Addio M,Alloni A,Baschirotto C,Valetti C,Cortese K,Puri C,Bassi MT,Colla C,De Luca M,Tacchetti C,Ballabio A

更新日期：1999-09-01 00:00:00

abstract：:Facioscapulohumeral dystrophy (FSHD) is characterized by chromatin relaxation of the D4Z4 macrosatellite array on chromosome 4 and expression of the D4Z4-encoded DUX4 gene in skeletal muscle. The more common form, autosomal dominant FSHD1, is caused by contraction of the D4Z4 array, whereas the genetic determinants an...

journal_title：Nature genetics

authors： Lemmers RJ,Tawil R,Petek LM,Balog J,Block GJ,Santen GW,Amell AM,van der Vliet PJ,Almomani R,Straasheijm KR,Krom YD,Klooster R,Sun Y,den Dunnen JT,Helmer Q,Donlin-Smith CM,Padberg GW,van Engelen BG,de Greef JC,Aartsm

更新日期：2012-12-01 00:00:00

abstract：:Charting differences between tumors and normal tissue is a mainstay of cancer research. However, clonal tumor expansion from complex normal tissue architectures potentially obscures cancer-specific events, including divergent epigenetic patterns. Using whole-genome bisulfite sequencing of normal B cell subsets, we obs...

journal_title：Nature genetics

authors： Oakes CC,Seifert M,Assenov Y,Gu L,Przekopowitz M,Ruppert AS,Wang Q,Imbusch CD,Serva A,Koser SD,Brocks D,Lipka DB,Bogatyrova O,Weichenhan D,Brors B,Rassenti L,Kipps TJ,Mertens D,Zapatka M,Lichter P,Döhner H,Küppe

更新日期：2016-03-01 00:00:00

abstract：:The electrocardiographic PR interval (or PQ interval) reflects atrial and atrioventricular nodal conduction, disturbances of which increase risk of atrial fibrillation. We report a meta-analysis of genome-wide association studies for PR interval from seven population-based European studies in the CHARGE Consortium: AG...

journal_title：Nature genetics

authors： Pfeufer A,van Noord C,Marciante KD,Arking DE,Larson MG,Smith AV,Tarasov KV,Müller M,Sotoodehnia N,Sinner MF,Verwoert GC,Li M,Kao WH,Köttgen A,Coresh J,Bis JC,Psaty BM,Rice K,Rotter JI,Rivadeneira F,Hofman A,Kors

更新日期：2010-02-01 00:00:00

abstract：:Incorporation of selenocysteine (Sec), through recoding of the UGA stop codon, creates a unique class of proteins. Mice lacking tRNA(Sec) die in utero, but the in vivo role of other components involved in selenoprotein synthesis is unknown, and Sec incorporation defects have not been described in humans. Deiodinases (...

journal_title：Nature genetics

authors： Dumitrescu AM,Liao XH,Abdullah MS,Lado-Abeal J,Majed FA,Moeller LC,Boran G,Schomburg L,Weiss RE,Refetoff S

更新日期：2005-11-01 00:00:00

abstract：:Although nearly half of human melanomas harbor oncogenic BRAF(V600E) mutations, the genetic events that cooperate with these mutations to drive melanogenesis are still largely unknown. Here we show that Sleeping Beauty (SB) transposon-mediated mutagenesis drives melanoma progression in Braf(V600E) mutant mice and iden...

journal_title：Nature genetics

authors： Mann MB,Black MA,Jones DJ,Ward JM,Yew CC,Newberg JY,Dupuy AJ,Rust AG,Bosenberg MW,McMahon M,Print CG,Copeland NG,Jenkins NA

更新日期：2015-05-01 00:00:00

abstract：:Long noncoding RNAs (lncRNAs) are prevalent genes with frequently precise regulation but mostly unknown functions. Here we demonstrate that lncRNAs guide the organismal DNA damage response. DNA damage activated transcription of the DINO (Damage Induced Noncoding) lncRNA via p53. DINO was required for p53-dependent gen...

journal_title：Nature genetics

authors： Schmitt AM,Garcia JT,Hung T,Flynn RA,Shen Y,Qu K,Payumo AY,Peres-da-Silva A,Broz DK,Baum R,Guo S,Chen JK,Attardi LD,Chang HY

更新日期：2016-11-01 00:00:00

abstract：:Cold induces expression of a number of genes that encode proteins that enhance tolerance to freezing temperatures in plants. A cis-acting element responsive to cold and drought, the C-repeat/dehydration-responsive element (C/DRE), was identified in the Arabidopsis thaliana stress-inducible genes RD29A and COR15a and f...

journal_title：Nature genetics

authors： Kim HJ,Hyun Y,Park JY,Park MJ,Park MK,Kim MD,Kim HJ,Lee MH,Moon J,Lee I,Kim J

更新日期：2004-02-01 00:00:00

abstract：:Hereditary multiple exostoses is an autosomal dominant disorder that is characterized by short stature and multiple, benign bone tumours. In a majority of families, the genetic defect (EXT1) is linked to the Langer-Giedion syndrome chromosomal region in 8q24.1. From this region we have cloned and characterized a cDNA ...

journal_title：Nature genetics

authors： Ahn J,Lüdecke HJ,Lindow S,Horton WA,Lee B,Wagner MJ,Horsthemke B,Wells DE

更新日期：1995-10-01 00:00:00

abstract：:Glutamate receptors are well-known actors in the central and peripheral nervous systems, and altered glutamate signaling is implicated in several neurological and psychiatric disorders. It is increasingly recognized that such receptors may also have a role in tumor growth. Here we provide direct evidence of aberrant g...

journal_title：Nature genetics

authors： Nord KH,Lilljebjörn H,Vezzi F,Nilsson J,Magnusson L,Tayebwa J,de Jong D,Bovée JV,Hogendoorn PC,Szuhai K

更新日期：2014-05-01 00:00:00

abstract：:Follicle stimulating hormone (FSH) is a member of the glycoprotein hormone family that includes luteinzing hormone (LH), thyroid stimulating hormone, and chorionic gonadotropin. These heterodimeric hormones share a common alpha subunit and differ in their hormone-specific beta subunit. The biological activity is confe...

journal_title：Nature genetics

authors： Kumar TR,Wang Y,Lu N,Matzuk MM

更新日期：1997-02-01 00:00:00

abstract：:ATM is a member of the phosphatidylinositol 3-kinase (PIK)-like kinases, some of which are active in regulating DNA damage-induced mitotic cell-cycle checkpoints. ATM also plays a role in meiosis. Spermatogenesis in Atm-/- male mice is disrupted, with chromosome fragmentation leading to meiotic arrest; in human patien...

journal_title：Nature genetics

authors： Plug AW,Peters AH,Xu Y,Keegan KS,Hoekstra MF,Baltimore D,de Boer P,Ashley T

更新日期：1997-12-01 00:00:00

abstract：:Protein-protein interactions may impose constraints on both structural and regulatory evolution. Here we show that protein-protein interactions are negatively associated with evolutionary variation in gene expression. Moreover, interacting proteins have similar levels of variation in expression, and their expression l...

journal_title：Nature genetics

authors： Lemos B,Meiklejohn CD,Hartl DL

更新日期：2004-10-01 00:00:00

abstract：:Immunotherapy for metastatic colorectal cancer is effective only for mismatch repair-deficient tumors with high microsatellite instability that demonstrate immune infiltration, suggesting that tumor cells can determine their immune microenvironment. To understand this cross-talk, we analyzed the transcriptome of 91,10...

journal_title：Nature genetics

authors： Lee HO,Hong Y,Etlioglu HE,Cho YB,Pomella V,Van den Bosch B,Vanhecke J,Verbandt S,Hong H,Min JW,Kim N,Eum HH,Qian J,Boeckx B,Lambrechts D,Tsantoulis P,De Hertogh G,Chung W,Lee T,An M,Shin HT,Joung JG,Jung MH,

更新日期：2020-06-01 00:00:00

abstract：:The importance of commensal microbes for human health is increasingly recognized, yet the impacts of evolutionary changes in human diet and culture on commensal microbiota remain almost unknown. Two of the greatest dietary shifts in human evolution involved the adoption of carbohydrate-rich Neolithic (farming) diets (...

journal_title：Nature genetics

authors： Adler CJ,Dobney K,Weyrich LS,Kaidonis J,Walker AW,Haak W,Bradshaw CJ,Townsend G,Sołtysiak A,Alt KW,Parkhill J,Cooper A

更新日期：2013-04-01 00:00:00

abstract：:Heritable inactivation of specific regions of the genome is a widespread, possibly universal phenomenon for gene regulation in eukaryotes. Self-perpetuating, clonally inherited chromatin structure has been proposed as the explanation for such phenomena as position-effect variegation (PEV) and control of segment determ...

journal_title：Nature genetics

authors： Ivanova AV,Bonaduce MJ,Ivanov SV,Klar AJ

更新日期：1998-06-01 00:00:00

abstract：:Lafora's disease (LD; OMIM 254780) is an autosomal recessive form of progressive myoclonus epilepsy characterized by seizures and cumulative neurological deterioration. Onset occurs during late childhood and usually results in death within ten years of the first symptoms. With few exceptions, patients follow a homogen...

journal_title：Nature genetics

authors： Minassian BA,Lee JR,Herbrick JA,Huizenga J,Soder S,Mungall AJ,Dunham I,Gardner R,Fong CY,Carpenter S,Jardim L,Satishchandra P,Andermann E,Snead OC 3rd,Lopes-Cendes I,Tsui LC,Delgado-Escueta AV,Rouleau GA,Scherer SW

更新日期：1998-10-01 00:00:00

abstract：:Although Burkitt lymphomas and follicular lymphomas both have features of germinal center B cells, they are biologically and clinically quite distinct. Here we performed whole-genome bisulfite, genome and transcriptome sequencing in 13 IG-MYC translocation-positive Burkitt lymphoma, nine BCL2 translocation-positive fo...

journal_title：Nature genetics

authors： Kretzmer H,Bernhart SH,Wang W,Haake A,Weniger MA,Bergmann AK,Betts MJ,Carrillo-de-Santa-Pau E,Doose G,Gutwein J,Richter J,Hovestadt V,Huang B,Rico D,Jühling F,Kolarova J,Lu Q,Otto C,Wagener R,Arnolds J,Burkhardt B

更新日期：2015-11-01 00:00:00

abstract：:We conducted a three-stage genome-wide association study (GWAS) of breast cancer in 9,770 cases and 10,799 controls in the Cancer Genetic Markers of Susceptibility (CGEMS) initiative. In stage 1, we genotyped 528,173 SNPs in 1,145 cases of invasive breast cancer and 1,142 controls. In stage 2, we analyzed 24,909 top S...

journal_title：Nature genetics

authors： Thomas G,Jacobs KB,Kraft P,Yeager M,Wacholder S,Cox DG,Hankinson SE,Hutchinson A,Wang Z,Yu K,Chatterjee N,Garcia-Closas M,Gonzalez-Bosquet J,Prokunina-Olsson L,Orr N,Willett WC,Colditz GA,Ziegler RG,Berg CD,Buys SS

更新日期：2009-05-01 00:00:00

abstract：:In the version of this article initially published, affiliation 38 incorrectly read "ICNU-Nephrology and Urology Department, Barcelona, Spain"; "Renal Division, Hospital Clinic, IDIBAPS, University of Barcelona, Barcelona, Spain" is the correct affiliation. The error has been corrected in the HTML and PDF versions of ...

journal_title：Nature genetics

authors： Verbitsky M,Westland R,Perez A,Kiryluk K,Liu Q,Krithivasan P,Mitrotti A,Fasel DA,Batourina E,Sampson MG,Bodria M,Werth M,Kao C,Martino J,Capone VP,Vivante A,Shril S,Kil BH,Marasa M,Zhang JY,Na YJ,Lim TY,Ahram

更新日期：2019-04-01 00:00:00

abstract：:Holoprosencephaly (HPE) is a developmental field defect involving the brain and face. Cytogenetic deletions in patients with HPE have localized one of the HPE genes to chromosomal region 7q36. We have characterized the 7q deletions in thirteen HPE patients. The result is the construction of a high resolution physical ...

journal_title：Nature genetics

authors： Gurrieri F,Trask BJ,van den Engh G,Krauss CM,Schinzel A,Pettenati MJ,Schindler D,Dietz-Band J,Vergnaud G,Scherer SW

更新日期：1993-03-01 00:00:00

abstract：:The promyelocytic leukaemia zinc finger (Plzf) protein (encoded by the gene Zfp145) belongs to the POZ/zinc-finger family of transcription factors. Here we generate Zfp145-/- mice and show that Plzf is essential for patterning of the limb and axial skeleton. Plzf inactivation results in patterning defects affecting al...

journal_title：Nature genetics

authors： Barna M,Hawe N,Niswander L,Pandolfi PP

更新日期：2000-06-01 00:00:00

abstract：:Kawasaki disease is a pediatric systemic vasculitis of unknown etiology for which a genetic influence is suspected. We identified a functional SNP (itpkc_3) in the inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene on chromosome 19q13.2 that is significantly associated with Kawasaki disease susceptibility and also w...

journal_title：Nature genetics

authors： Onouchi Y,Gunji T,Burns JC,Shimizu C,Newburger JW,Yashiro M,Nakamura Y,Yanagawa H,Wakui K,Fukushima Y,Kishi F,Hamamoto K,Terai M,Sato Y,Ouchi K,Saji T,Nariai A,Kaburagi Y,Yoshikawa T,Suzuki K,Tanaka T,Nagai T,

更新日期：2008-01-01 00:00:00

abstract：:Tumor suppressor genes on the X chromosome may skew the gender distribution of specific types of cancer. T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematological malignancy with an increased incidence in males. In this study, we report the identification of inactivating mutations and deletions in the...

journal_title：Nature genetics

authors： Van Vlierberghe P,Palomero T,Khiabanian H,Van der Meulen J,Castillo M,Van Roy N,De Moerloose B,Philippé J,González-García S,Toribio ML,Taghon T,Zuurbier L,Cauwelier B,Harrison CJ,Schwab C,Pisecker M,Strehl S,Langerak AW

更新日期：2010-04-01 00:00:00

abstract：:We have previously shown that ASPP1 and ASPP2 are specific activators of p53; one mechanism by which wild-type p53 is tolerated in human breast carcinomas is through loss of ASPP activity. We have further shown that 53BP2, which corresponds to a C-terminal fragment of ASPP2, acts as a dominant negative inhibitor of p5...

journal_title：Nature genetics

authors： Bergamaschi D,Samuels Y,O'Neil NJ,Trigiante G,Crook T,Hsieh JK,O'Connor DJ,Zhong S,Campargue I,Tomlinson ML,Kuwabara PE,Lu X

更新日期：2003-02-01 00:00:00

abstract：:The hallmark of type 2 diabetes, the most common metabolic disorder, is a defect in insulin-stimulated glucose transport in peripheral tissues. Although a role for phosphoinositide-3-kinase (PI3K) activity in insulin-stimulated glucose transport and glucose transporter isoform 4 (Glut4) translocation has been suggeste...

journal_title：Nature genetics

authors： Terauchi Y,Tsuji Y,Satoh S,Minoura H,Murakami K,Okuno A,Inukai K,Asano T,Kaburagi Y,Ueki K,Nakajima H,Hanafusa T,Matsuzawa Y,Sekihara H,Yin Y,Barrett JC,Oda H,Ishikawa T,Akanuma Y,Komuro I,Suzuki M,Yamamura K,

更新日期：1999-02-01 00:00:00

abstract：:The T-cell receptor (TCR) is composed of two glycoproteins (alpha and beta or gamma and delta) associated with four invariant polypeptides (CD3-gamma, delta, epsilon and zeta). The majority of TCR/CD3 complexes contain six polypeptide chains, and although there is some flexibility in the complex subunit stoichiometry ...

journal_title：Nature genetics

authors： Soudais C,de Villartay JP,Le Deist F,Fischer A,Lisowska-Grospierre B

更新日期：1993-01-01 00:00:00

abstract：:Volumetric variations of the human brain are heritable and are associated with many brain-related complex traits. Here we performed genome-wide association studies (GWAS) of 101 brain volumetric phenotypes using the UK Biobank sample including 19,629 participants. GWAS identified 365 independent genetic variants excee...

journal_title：Nature genetics

authors： Zhao B,Luo T,Li T,Li Y,Zhang J,Shan Y,Wang X,Yang L,Zhou F,Zhu Z,Alzheimer’s Disease Neuroimaging Initiative.,Pediatric Imaging, Neurocognition and Genetics.,Zhu H

更新日期：2019-11-01 00:00:00

abstract：:There is increasing evidence showing that the stromal cells surrounding cancer epithelial cells, rather than being passive bystanders, might have a role in modifying tumor outgrowth. The molecular basis of this aspect of carcinoma etiology is controversial. Some studies have reported a high frequency of genetic aberra...

journal_title：Nature genetics

authors： Qiu W,Hu M,Sridhar A,Opeskin K,Fox S,Shipitsin M,Trivett M,Thompson ER,Ramakrishna M,Gorringe KL,Polyak K,Haviv I,Campbell IG

更新日期：2008-05-01 00:00:00

abstract：:The past decade has seen great advances in unraveling the biological basis of hereditary ataxias. Molecular studies of spinocerebellar ataxias (SCA) have extended our understanding of dominant ataxias. Causative genes have been identified for a few autosomal recessive ataxias: Friedreich's ataxia, ataxia with vitamin ...

journal_title：Nature genetics

authors： Gros-Louis F,Dupré N,Dion P,Fox MA,Laurent S,Verreault S,Sanes JR,Bouchard JP,Rouleau GA

更新日期：2007-01-01 00:00:00