A major quantitative trait locus determining serum leptin levels and fat mass is located on human chromosome 2.

abstract：:High rates of APOBEC-signature mutations are found in many tumors, but factors affecting this mutation pattern are not well understood. Here we explored the contribution of two common germline variants in the APOBEC3 region. SNP rs1014971 was associated with bladder cancer risk, increased APOBEC3B expression, and enri...

journal_title：Nature genetics

authors： Middlebrooks CD,Banday AR,Matsuda K,Udquim KI,Onabajo OO,Paquin A,Figueroa JD,Zhu B,Koutros S,Kubo M,Shuin T,Freedman ND,Kogevinas M,Malats N,Chanock SJ,Garcia-Closas M,Silverman DT,Rothman N,Prokunina-Olsson L

更新日期：2016-11-01 00:00:00

abstract：:The Human Genome Project and its spin-offs are making it increasingly feasible to determine the genetic basis of complex traits using genome-wide association studies. The statistical challenge of analyzing such studies stems from the severe multiple-comparison problem resulting from the analysis of thousands of SNPs. ...

journal_title：Nature genetics

authors： Van Steen K,McQueen MB,Herbert A,Raby B,Lyon H,Demeo DL,Murphy A,Su J,Datta S,Rosenow C,Christman M,Silverman EK,Laird NM,Weiss ST,Lange C

更新日期：2005-07-01 00:00:00

abstract：:The three-dimensional organization of the genome has an important role in orchestrating gene expression, but its regulation is poorly understood. Now, a new study uncovers a major role for Polycomb components of the PRC1 complex in organizing physical networks of genes that are co-repressed to maintain pluripotency. ...

journal_title：Nature genetics

authors： Cavalli G

更新日期：2015-10-01 00:00:00

abstract：:Congenic breeding strategies are becoming increasingly important as a greater number of complex trait linkages are identified. Traditionally, the development of a congenic strain has been a time-consuming endeavour, requiring ten generations of backcrosses. The recent advent of a dense molecular genetic map of the mou...

journal_title：Nature genetics

authors： Markel P,Shu P,Ebeling C,Carlson GA,Nagle DL,Smutko JS,Moore KJ

更新日期：1997-11-01 00:00:00

abstract：:Although ribosomes are ubiquitous and essential for life, recent data indicate that monogenic causes of ribosomal dysfunction can confer a remarkable degree of specificity in terms of human disease phenotype. Box C/D small nucleolar RNAs (snoRNAs) are evolutionarily conserved non-protein-coding RNAs involved in riboso...

journal_title：Nature genetics

authors： Jenkinson EM,Rodero MP,Kasher PR,Uggenti C,Oojageer A,Goosey LC,Rose Y,Kershaw CJ,Urquhart JE,Williams SG,Bhaskar SS,O'Sullivan J,Baerlocher GM,Haubitz M,Aubert G,Barañano KW,Barnicoat AJ,Battini R,Berger A,Blair EM

更新日期：2016-10-01 00:00:00

abstract：:An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...

journal_title：Nature genetics

authors： Chan-Seng-Yue M,Kim JC,Wilson GW,Ng K,Figueroa EF,O'Kane GM,Connor AA,Denroche RE,Grant RC,McLeod J,Wilson JM,Jang GH,Zhang A,Liang SB,Borgida A,Chadwick D,Kalimuthu S,Lungu I,Bartlett JMS,Krzyzanowski PM,Sandhu V

更新日期：2020-04-01 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

authors： Mills IG

更新日期：2014-02-01 00:00:00

abstract：:Restless legs syndrome (RLS) is a frequent neurological disorder characterized by an imperative urge to move the legs during night, unpleasant sensation in the lower limbs, disturbed sleep and increased cardiovascular morbidity. In a genome-wide association study we found highly significant associations between RLS an...

journal_title：Nature genetics

authors： Winkelmann J,Schormair B,Lichtner P,Ripke S,Xiong L,Jalilzadeh S,Fulda S,Pütz B,Eckstein G,Hauk S,Trenkwalder C,Zimprich A,Stiasny-Kolster K,Oertel W,Bachmann CG,Paulus W,Peglau I,Eisensehr I,Montplaisir J,Turecki G

更新日期：2007-08-01 00:00:00

abstract：:Paired box (PAX) genes play a critical role in human development and disease. The PAX2 gene is expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system. We have conducted a mutational analysis of PAX2 in a family with optic nerve colobomas, renal hypoplasia, mild proteinuria and vesicour...

journal_title：Nature genetics

authors： Sanyanusin P,Schimmenti LA,McNoe LA,Ward TA,Pierpont ME,Sullivan MJ,Dobyns WB,Eccles MR

更新日期：1995-04-01 00:00:00

abstract：:Familial hypomagnesemia with secondary hypocalcemia (OMIM 602014) is an autosomal recessive disease that results in electrolyte abnormalities shortly after birth. Affected individuals show severe hypomagnesemia and hypocalcemia, which lead to seizures and tetany. The disorder has been thought to be caused by a defect ...

journal_title：Nature genetics

authors： Walder RY,Landau D,Meyer P,Shalev H,Tsolia M,Borochowitz Z,Boettger MB,Beck GE,Englehardt RK,Carmi R,Sheffield VC

更新日期：2002-06-01 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：: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：:Numerous genetic loci have been associated with systolic blood pressure (SBP) and diastolic blood pressure (DBP) in Europeans. We now report genome-wide association studies of pulse pressure (PP) and mean arterial pressure (MAP). In discovery (N = 74,064) and follow-up studies (N = 48,607), we identified at genome-wid...

journal_title：Nature genetics

authors： Wain LV,Verwoert GC,O'Reilly PF,Shi G,Johnson T,Johnson AD,Bochud M,Rice KM,Henneman P,Smith AV,Ehret GB,Amin N,Larson MG,Mooser V,Hadley D,Dörr M,Bis JC,Aspelund T,Esko T,Janssens AC,Zhao JH,Heath S,Laan M,

更新日期：2011-09-11 00:00:00

abstract：:Comparisons of chromosome X and the autosomes can illuminate differences in the histories of males and females as well as shed light on the forces of natural selection. We compared the patterns of variation in these parts of the genome using two datasets that we assembled for this study that are both genomic in scale....

journal_title：Nature genetics

authors： Keinan A,Mullikin JC,Patterson N,Reich D

更新日期：2009-01-01 00:00:00

abstract：:Mutations in PRKCSH, encoding the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER), cause autosomal dominant polycystic liver disease. We found that mutations in SEC63, encoding a component of the protein translocation machinery in the ER, also cause this disease. ...

journal_title：Nature genetics

authors： Davila S,Furu L,Gharavi AG,Tian X,Onoe T,Qian Q,Li A,Cai Y,Kamath PS,King BF,Azurmendi PJ,Tahvanainen P,Kääriäinen H,Höckerstedt K,Devuyst O,Pirson Y,Martin RS,Lifton RP,Tahvanainen E,Torres VE,Somlo S

更新日期：2004-06-01 00:00:00

abstract：:Esophageal adenocarcinoma is a cancer with rising incidence and poor survival. Most such cancers arise in a specialized intestinal metaplastic epithelium, which is diagnostic of Barrett's esophagus. In a genome-wide association study, we compared esophageal adenocarcinoma cases (n = 2,390) and individuals with precanc...

journal_title：Nature genetics

authors： Levine DM,Ek WE,Zhang R,Liu X,Onstad L,Sather C,Lao-Sirieix P,Gammon MD,Corley DA,Shaheen NJ,Bird NC,Hardie LJ,Murray LJ,Reid BJ,Chow WH,Risch HA,Nyrén O,Ye W,Liu G,Romero Y,Bernstein L,Wu AH,Casson AG,Chano

更新日期：2013-12-01 00:00:00

abstract：:Ataxia with isolated vitamin E deficiency (AVED) is an autosomal recessive neurodegenerative disease which maps to chromosome 8q13. AVED patients have an impaired ability to incorporate alpha-tocopherol into lipoproteins secreted by the liver, a function putatively attributable to the alpha-tocopherol transfer protein...

journal_title：Nature genetics

authors： Ouahchi K,Arita M,Kayden H,Hentati F,Ben Hamida M,Sokol R,Arai H,Inoue K,Mandel JL,Koenig M

更新日期：1995-02-01 00:00:00

abstract：:In the past decade, bioinformatics has become an integral part of research and development in the biomedical sciences. Bioinformatics now has an essential role both in deciphering genomic, transcriptomic and proteomic data generated by high-throughput experimental technologies and in organizing information gathered fr...

journal_title：Nature genetics

authors： Kanehisa M,Bork P

更新日期：2003-03-01 00:00:00

abstract：:Sézary syndrome is a rare leukemic form of cutaneous T cell lymphoma characterized by generalized redness, scaling, itching and increased numbers of circulating atypical T lymphocytes. It is rarely curable, with poor prognosis. Here we present a multiplatform genomic analysis of 37 patients with Sézary syndrome that i...

journal_title：Nature genetics

authors： Wang L,Ni X,Covington KR,Yang BY,Shiu J,Zhang X,Xi L,Meng Q,Langridge T,Drummond J,Donehower LA,Doddapaneni H,Muzny DM,Gibbs RA,Wheeler DA,Duvic M

更新日期：2015-12-01 00:00:00

abstract：:Genomic instability at simple repeated sequences (SRS) is a landmark for some sporadic and hereditary cancers of the colon. We have identified several human tumour cell lines with up to 1,000-fold increases in mutation rates for endogenous microsatellite sequences, relative to normal cells or tumour cells without the ...

journal_title：Nature genetics

authors： Shibata D,Peinado MA,Ionov Y,Malkhosyan S,Perucho M

更新日期：1994-03-01 00:00:00

abstract：:The syndrome of hyperactivity describes behavioural disorders existing mainly in children and characterized by increased levels of motor activity, inattention and impulsivity. Overall the aetiology is poorly understood due to the heterogeneity of the pathology although psychological, biological and social factors acti...

journal_title：Nature genetics

authors： Moisan MP,Courvoisier H,Bihoreau MT,Gauguier D,Hendley ED,Lathrop M,James MR,Mormède P

更新日期：1996-12-01 00:00:00

abstract：:Cells respond to stimuli by changes in various processes, including signaling pathways and gene expression. Efforts to identify components of these responses increasingly depend on mRNA profiling and genetic library screens. By comparing the results of these two assays across various stimuli, we found that genetic scr...

journal_title：Nature genetics

authors： Yeger-Lotem E,Riva L,Su LJ,Gitler AD,Cashikar AG,King OD,Auluck PK,Geddie ML,Valastyan JS,Karger DR,Lindquist S,Fraenkel E

更新日期：2009-03-01 00:00:00

abstract：:In the HTML version of this article initially published, the name of author Diletta Di Mitri was miscoded in the XML such that Di was included as part of the given name instead of the family name. The error has been corrected in the HTML version of the article. ...

journal_title：Nature genetics

authors： Chen J,Guccini I,Di Mitri D,Brina D,Revandkar A,Sarti M,Pasquini E,Alajati A,Pinton S,Losa M,Civenni G,Catapano CV,Sgrignani J,Cavalli A,D'Antuono R,Asara JM,Morandi A,Chiarugi P,Crotti S,Agostini M,Montopoli M,

更新日期：2018-09-01 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

authors： McKay JD,Hung RJ,Gaborieau V,Boffetta P,Chabrier A,Byrnes G,Zaridze D,Mukeria A,Szeszenia-Dabrowska N,Lissowska J,Rudnai P,Fabianova E,Mates D,Bencko V,Foretova L,Janout V,McLaughlin J,Shepherd F,Montpetit A,Narod S

更新日期：2008-12-01 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

authors： Stark MS,Woods SL,Gartside MG,Bonazzi VF,Dutton-Regester K,Aoude LG,Chow D,Sereduk C,Niemi NM,Tang N,Ellis JJ,Reid J,Zismann V,Tyagi S,Muzny D,Newsham I,Wu Y,Palmer JM,Pollak T,Youngkin D,Brooks BR,Lanagan C,S

更新日期：2011-12-25 00:00:00

abstract：:To search for sequence variants conferring risk of nonmedullary thyroid cancer, we focused our analysis on 22 SNPs with a P < 5 × 10(-8) in a genome-wide association study on levels of thyroid stimulating hormone (TSH) in 27,758 Icelanders. Of those, rs965513 has previously been shown to associate with thyroid cancer....

journal_title：Nature genetics

authors： Gudmundsson J,Sulem P,Gudbjartsson DF,Jonasson JG,Masson G,He H,Jonasdottir A,Sigurdsson A,Stacey SN,Johannsdottir H,Helgadottir HT,Li W,Nagy R,Ringel MD,Kloos RT,de Visser MC,Plantinga TS,den Heijer M,Aguillo E,Pan

更新日期：2012-01-22 00:00:00

abstract：:Advances in sequencing technologies have enabled the identification of mutations acquired by bacterial pathogens during infection. However, it remains unclear whether adaptive mutations fix in the population or lead to pathogen diversification within the patient. Here we study the genotypic diversity of Burkholderia d...

journal_title：Nature genetics

authors： Lieberman TD,Flett KB,Yelin I,Martin TR,McAdam AJ,Priebe GP,Kishony R

更新日期：2014-01-01 00:00:00

abstract：:Protein tyrosine phosphorylation plays a key role in regulating eukaryotic cell proliferation and differentiation. Genetic analysis in invertebrates has been invaluable for dissecting the signalling events downstream of receptor tyrosine kinases (RTKs). We have used this approach in mammals to analyse the interactions...

journal_title：Nature genetics

authors： Paulson RF,Vesely S,Siminovitch KA,Bernstein A

更新日期：1996-07-01 00:00:00

abstract：:Vitamin C, a micronutrient known for its anti-scurvy activity in humans, promotes the generation of induced pluripotent stem cells (iPSCs) through the activity of histone demethylating dioxygenases. TET hydroxylases are also dioxygenases implicated in active DNA demethylation. Here we report that TET1 either positivel...

journal_title：Nature genetics

authors： Chen J,Guo L,Zhang L,Wu H,Yang J,Liu H,Wang X,Hu X,Gu T,Zhou Z,Liu J,Liu J,Wu H,Mao SQ,Mo K,Li Y,Lai K,Qi J,Yao H,Pan G,Xu GL,Pei D

更新日期：2013-12-01 00:00:00

abstract：:The global health impact of malaria is enormous, with an estimated 300-500 million clinical cases and 1 million annual deaths. In humans, initial susceptibility to infection with Plasmodium species, disease severity and ultimate outcome of malaria (self-healing or lethal) are under complex genetic control. Alleles ass...

journal_title：Nature genetics

authors： Min-Oo G,Fortin A,Tam MF,Nantel A,Stevenson MM,Gros P

更新日期：2003-12-01 00:00:00