Genome-wide association analysis of 19,629 individuals identifies variants influencing regional brain volumes and refines their genetic co-architecture with cognitive and mental health traits.

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：:Although several lung cancer susceptibility loci have been identified, much of the heritability for lung cancer remains unexplained. Here 14,803 cases and 12,262 controls of European descent were genotyped on the OncoArray and combined with existing data for an aggregated genome-wide association study (GWAS) analysis ...

journal_title：Nature genetics

authors： McKay JD,Hung RJ,Han Y,Zong X,Carreras-Torres R,Christiani DC,Caporaso NE,Johansson M,Xiao X,Li Y,Byun J,Dunning A,Pooley KA,Qian DC,Ji X,Liu G,Timofeeva MN,Bojesen SE,Wu X,Le Marchand L,Albanes D,Bickeböller H

更新日期：2017-07-01 00:00:00

abstract：:The diaphragm is an essential mammalian skeletal muscle, and defects in diaphragm development are the cause of congenital diaphragmatic hernias (CDHs), a common and often lethal birth defect. The diaphragm is derived from multiple embryonic sources, but how these give rise to the diaphragm is unknown, and, despite the...

journal_title：Nature genetics

authors： Merrell AJ,Ellis BJ,Fox ZD,Lawson JA,Weiss JA,Kardon G

更新日期：2015-05-01 00:00:00

abstract：:We conducted a meta-analysis of genome-wide association data to detect genes influencing age at menarche in 17,510 women. The strongest signal was at 9q31.2 (P = 1.7 × 10(-9)), where the nearest genes include TMEM38B, FKTN, FSD1L, TAL2 and ZNF462. The next best signal was near the LIN28B gene (rs7759938; P = 7.0 × 10(...

journal_title：Nature genetics

authors： Perry JR,Stolk L,Franceschini N,Lunetta KL,Zhai G,McArdle PF,Smith AV,Aspelund T,Bandinelli S,Boerwinkle E,Cherkas L,Eiriksdottir G,Estrada K,Ferrucci L,Folsom AR,Garcia M,Gudnason V,Hofman A,Karasik D,Kiel DP,Lau

更新日期：2009-06-01 00:00:00

abstract：:The technology of modifying endogenous genes has recently been extended from mice to Drosophila and sheep. Concurrently, genomic sequencing is uncovering thousands of previously uncharacterized genes. Armed with today's technologies, what are our best options for delineating the functions of these new genes? ...

journal_title：Nature genetics

authors： Capecchi MR

更新日期：2000-10-01 00:00:00

abstract：:Crosstalk between signaling pathways is crucial for the generation of complex and varied transcriptional networks. Antagonism between the EGF-receptor (EGFR) and Notch pathways in particular is well documented, although the underlying mechanism is poorly understood. The global corepressor Groucho (Gro) and its transdu...

journal_title：Nature genetics

authors： Hasson P,Egoz N,Winkler C,Volohonsky G,Jia S,Dinur T,Volk T,Courey AJ,Paroush Z

更新日期：2005-01-01 00:00:00

abstract：:Lung disease is the major cause of death in cystic fibrosis (CF), but there is no evidence for overt lung involvement at birth. We show here that the same is true for the gene targeted cftrm1HGU mutant mouse. Furthermore, this CF mouse model demonstrates an impaired capacity to clear Staphylococcus aureus and Burkhold...

journal_title：Nature genetics

authors： Davidson DJ,Dorin JR,McLachlan G,Ranaldi V,Lamb D,Doherty C,Govan J,Porteous DJ

更新日期：1995-04-01 00:00:00

abstract：:We report that mutation in the gene for plectin, a cytoskeleton-membrane anchorage protein, is a cause of autosomal recessive muscular dystrophy associated with skin blistering (epidermolysis bullosa simplex). The evidence comes from absence of plectin by antibody staining in affected individuals from four families, s...

journal_title：Nature genetics

authors： Smith FJ,Eady RA,Leigh IM,McMillan JR,Rugg EL,Kelsell DP,Bryant SP,Spurr NK,Geddes JF,Kirtschig G,Milana G,de Bono AG,Owaribe K,Wiche G,Pulkkinen L,Uitto J,McLean WH,Lane EB

更新日期：1996-08-01 00:00:00

abstract：:Dominant mutations in the MORC2 gene have recently been shown to cause axonal Charcot-Marie-Tooth (CMT) disease, but the cellular function of MORC2 is poorly understood. Here, through a genome-wide CRISPR-Cas9-mediated forward genetic screen, we identified MORC2 as an essential gene required for epigenetic silencing b...

journal_title：Nature genetics

authors： Tchasovnikarova IA,Timms RT,Douse CH,Roberts RC,Dougan G,Kingston RE,Modis Y,Lehner PJ

更新日期：2017-07-01 00:00:00

abstract：:We recently mapped the disease locus for severe autosomal recessive lamellar ichthyosis (LI) to chromosome 14q11 and showed complete linkage with TGM1, the gene encoding transglutaminase 1. We have now identified point mutations in TGM1 in two of the multiplex LI families used in the linkage study. Each nucleotide cha...

journal_title：Nature genetics

authors： Russell LJ,DiGiovanna JJ,Rogers GR,Steinert PM,Hashem N,Compton JG,Bale SJ

更新日期：1995-03-01 00:00:00

abstract：:The basic helix-loop-helix (bHLH) transcription factors, Hand1 and Hand2 (refs 1,2), also called eHand/Hxt/Thing1 and dHand/Hed/Thing2 (refs 3,4), respectively, are expressed in the heart and certain neural-crest derivatives during embryogenesis. In addition, Hand1 is expressed in extraembryonic membranes, whereas Han...

journal_title：Nature genetics

authors： Firulli AB,McFadden DG,Lin Q,Srivastava D,Olson EN

更新日期：1998-03-01 00:00:00

abstract：:MASA syndrome is a recessive X-linked disorder characterized by mental retardation, adducted thumbs, shuffling gait, aphasia and, in some cases, hydrocephalus. Since it has been shown that X-linked hydrocephalus can be caused by mutations in L1CAM, a neuronal cell adhesion molecule, we performed an L1CAM mutation anal...

journal_title：Nature genetics

authors： Vits L,Van Camp G,Coucke P,Fransen E,De Boulle K,Reyniers E,Korn B,Poustka A,Wilson G,Schrander-Stumpel C

更新日期：1994-07-01 00:00:00

abstract：:We performed a genome-wide association study of non-Hispanic, white individuals with fibrotic idiopathic interstitial pneumonias (IIPs; n = 1,616) and controls (n = 4,683), with follow-up replication analyses in 876 cases and 1,890 controls. We confirmed association with TERT at 5p15, MUC5B at 11p15 and the 3q26 regio...

journal_title：Nature genetics

authors： Fingerlin TE,Murphy E,Zhang W,Peljto AL,Brown KK,Steele MP,Loyd JE,Cosgrove GP,Lynch D,Groshong S,Collard HR,Wolters PJ,Bradford WZ,Kossen K,Seiwert SD,du Bois RM,Garcia CK,Devine MS,Gudmundsson G,Isaksson HJ,Kami

更新日期：2013-06-01 00:00:00

abstract：:May-Hegglin anomaly (MHA) is an autosomal dominant macrothrombocytopenia of unclear pathogenesis characterized by thrombocytopenia, giant platelets and leukocyte inclusions. Studies have indicated that platelet structure and function are normal, suggesting a defect in megakaryocyte fragmentation. The disorder has been...

journal_title：Nature genetics

authors： Kelley MJ,Jawien W,Ortel TL,Korczak JF

更新日期：2000-09-01 00:00:00

abstract：:To identify new genetic risk factors for cervical cancer, we conducted a genome-wide association study in the Han Chinese population. The initial discovery set included 1,364 individuals with cervical cancer (cases) and 3,028 female controls, and we selected a 'stringently matched samples' subset (829 cases and 990 co...

journal_title：Nature genetics

authors： Shi Y,Li L,Hu Z,Li S,Wang S,Liu J,Wu C,He L,Zhou J,Li Z,Hu T,Chen Y,Jia Y,Wang S,Wu L,Cheng X,Yang Z,Yang R,Li X,Huang K,Zhang Q,Zhou H,Tang F,Chen Z,Shen J,Jiang J,Ding H,Xing H,Zhang S,Qu P,S

更新日期：2013-08-01 00:00:00

abstract：:How the human brain rapidly builds up its lipid content during brain growth and maintains its lipids in adulthood has remained elusive. Two new studies show that inactivating mutations in MFSD2A, known to be expressed specifically at the blood-brain barrier, lead to microcephaly, thereby offering a simple and surprisi...

journal_title：Nature genetics

authors： Betsholtz C

更新日期：2015-07-01 00:00:00

abstract：:The human gut microbiome plays a key role in human health 1 , but 16S characterization lacks quantitative functional annotation 2 . The fecal metabolome provides a functional readout of microbial activity and can be used as an intermediate phenotype mediating host-microbiome interactions 3 . In this comprehensive desc...

journal_title：Nature genetics

authors： Zierer J,Jackson MA,Kastenmüller G,Mangino M,Long T,Telenti A,Mohney RP,Small KS,Bell JT,Steves CJ,Valdes AM,Spector TD,Menni C

更新日期：2018-06-01 00:00:00

abstract：:Recent studies indicate that a subclass of APOBEC cytidine deaminases, which convert cytosine to uracil during RNA editing and retrovirus or retrotransposon restriction, may induce mutation clusters in human tumors. We show here that throughout cancer genomes APOBEC-mediated mutagenesis is pervasive and correlates wit...

journal_title：Nature genetics

authors： Roberts SA,Lawrence MS,Klimczak LJ,Grimm SA,Fargo D,Stojanov P,Kiezun A,Kryukov GV,Carter SL,Saksena G,Harris S,Shah RR,Resnick MA,Getz G,Gordenin DA

更新日期：2013-09-01 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：: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

authors： Jin YH,Clark AB,Slebos RJ,Al-Refai H,Taylor JA,Kunkel TA,Resnick MA,Gordenin DA

更新日期：2003-07-01 00:00:00

abstract：:Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive disorder characterized by slowly progressing contractures, wasting of skeletal muscle and cardiomyopathy. Heart block is a frequent cause of death. The disease gene has been mapped to distal Xq28. Among many genes in this region, we selected eight trans...

journal_title：Nature genetics

authors： Bione S,Maestrini E,Rivella S,Mancini M,Regis S,Romeo G,Toniolo D

更新日期：1994-12-01 00:00:00

abstract：:Deep catalogs of genetic variation from thousands of humans enable the detection of intraspecies constraint by identifying coding regions with a scarcity of variation. While existing techniques summarize constraint for entire genes, single gene-wide metrics conceal regional constraint variability within each gene. The...

journal_title：Nature genetics

authors： Havrilla JM,Pedersen BS,Layer RM,Quinlan AR

更新日期：2019-01-01 00:00:00

abstract：:An ever-larger proportion of the liability to common and complex disease can be obtained by progressively larger studies. However, for most diseases, the sample sizes required to gain usable predictions will be out of reach of sequencing technologies for the foreseeable future. Array-based genotyping genome-wide assoc...

journal_title：Nature genetics

authors：

更新日期：2013-04-01 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：: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：:Crouzon syndrome is an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis) and maps to chromosome 10q25-q26. We now present evidence that mutations in the fibroblast growth factor receptor 2 gene (FGFR2) cause Crouzon syndrome. We found SSCP variations in the B exon of FGFR2...

journal_title：Nature genetics

authors： Reardon W,Winter RM,Rutland P,Pulleyn LJ,Jones BM,Malcolm S

更新日期：1994-09-01 00:00:00

abstract：:Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyot...

journal_title：Nature genetics

authors： Redin C,Brand H,Collins RL,Kammin T,Mitchell E,Hodge JC,Hanscom C,Pillalamarri V,Seabra CM,Abbott MA,Abdul-Rahman OA,Aberg E,Adley R,Alcaraz-Estrada SL,Alkuraya FS,An Y,Anderson MA,Antolik C,Anyane-Yeboa K,Atkin JF

更新日期：2017-01-01 00:00:00

abstract：:Human endogenous retroviruses (HERVs), which are remnants of past retroviral infections of the germline cells of our ancestors, make up as much as 8% of the human genome and may even outnumber genes. Most HERVs seem to have entered the genome between 10 and 50 million years ago, and they comprise over 200 distinct gro...

journal_title：Nature genetics

authors： Hughes JF,Coffin JM

更新日期：2001-12-01 00:00:00

abstract：:Transcriptional silencing by CpG island methylation is a prevalent mechanism of tumor-suppressor gene suppression in cancers. Genetic experiments have defined the importance of the DNA methyltransferase Dnmt1 for the maintenance of methylation in mouse cells and its role in neoplasia. In human bladder cancer cells, se...

journal_title：Nature genetics

authors： Robert MF,Morin S,Beaulieu N,Gauthier F,Chute IC,Barsalou A,MacLeod AR

更新日期：2003-01-01 00:00:00

abstract：:The early development of blood vessels consists of two phases, vasculogenesis and angiogenesis, which involve distinct and also overlapping molecular regulators, but the intracellular signal transduction pathways involved in these processes have not been well defined. We disrupted Map3k3 (also known as Mekk3), which e...

journal_title：Nature genetics

authors： Yang J,Boerm M,McCarty M,Bucana C,Fidler IJ,Zhuang Y,Su B

更新日期：2000-03-01 00:00:00