Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.

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：:The stress hormone-regulating hypothalamic-pituitary-adrenal (HPA) axis has been implicated in the causality as well as the treatment of depression. To investigate a possible association between genes regulating the HPA axis and response to antidepressants and susceptibility for depression, we genotyped single-nucleot...

journal_title：Nature genetics

authors： Binder EB,Salyakina D,Lichtner P,Wochnik GM,Ising M,Pütz B,Papiol S,Seaman S,Lucae S,Kohli MA,Nickel T,Künzel HE,Fuchs B,Majer M,Pfennig A,Kern N,Brunner J,Modell S,Baghai T,Deiml T,Zill P,Bondy B,Rupprecht R

更新日期：2004-12-01 00:00:00

abstract：:A genome-wide study of fasting insulin, HDL cholesterol and triglycerides, designed to depict insulin resistance, identified 53 independent loci associated with a limited capacity to store fat in a healthy way. The increased power of this multitrait approach provides insights into an otherwise difficult-to-grasp pheno...

journal_title：Nature genetics

authors： Heid IM,Winkler TW

更新日期：2016-12-28 00:00:00

abstract：:Our genome-wide association study of celiac disease previously identified risk variants in the IL2-IL21 region. To identify additional risk variants, we genotyped 1,020 of the most strongly associated non-HLA markers in an additional 1,643 cases and 3,406 controls. Through joint analysis including the genome-wide asso...

journal_title：Nature genetics

authors： Hunt KA,Zhernakova A,Turner G,Heap GA,Franke L,Bruinenberg M,Romanos J,Dinesen LC,Ryan AW,Panesar D,Gwilliam R,Takeuchi F,McLaren WM,Holmes GK,Howdle PD,Walters JR,Sanders DS,Playford RJ,Trynka G,Mulder CJ,Mearin

更新日期：2008-04-01 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

authors： Mancuso N,Freund MK,Johnson R,Shi H,Kichaev G,Gusev A,Pasaniuc B

更新日期：2019-04-01 00:00:00

abstract：:The amnionless gene, Amn, on mouse chromosome 12 encodes a type I transmembrane protein that is expressed in the extraembryonic visceral layer during gastrulation. Mice homozygous with respect to the amn mutation generated by a transgene insertion have no amnion. The embryos are severely compromised, surviving to the ...

journal_title：Nature genetics

authors： Tanner SM,Aminoff M,Wright FA,Liyanarachchi S,Kuronen M,Saarinen A,Massika O,Mandel H,Broch H,de la Chapelle A

更新日期：2003-03-01 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：:Hearing impairment is the most commonly occurring condition that affects the ability of humans to communicate. More than 50% of the cases of profound early-onset deafness are caused by genetic factors. Over 40 loci for non-syndromic deafness have been genetically mapped, and mutations in several genes have been shown ...

journal_title：Nature genetics

authors： Xia JH,Liu CY,Tang BS,Pan Q,Huang L,Dai HP,Zhang BR,Xie W,Hu DX,Zheng D,Shi XL,Wang DA,Xia K,Yu KP,Liao XD,Feng Y,Yang YF,Xiao JY,Xie DH,Huang JZ

更新日期：1998-12-01 00:00:00

abstract：:In the version of the article published, the author list is not accurate. Igor Cima and Min-Han Tan should have been authors, appearing after Mark Wong in the author list, while Paul Jongjoon Choi should not have been listed as an author. Igor Cima and Min-Han Tan both have the affiliation Institute of Bioengineering ...

journal_title：Nature genetics

authors： Li H,Courtois ET,Sengupta D,Tan Y,Chen KH,Goh JJL,Kong SL,Chua C,Hon LK,Tan WS,Wong M,Cima I,Tan MH,Wee LJK,Hillmer AM,Tan IB,Robson P,Prabhakar S

更新日期：2018-12-01 00:00:00

abstract：:The gene Ucp2 is a member of a family of genes found in animals and plants, encoding a protein homologous to the brown fat uncoupling protein Ucp1 (refs 1-3). As Ucp2 is widely expressed in mammalian tissues, uncouples respiration and resides within a region of genetic linkage to obesity, a role in energy dissipation ...

journal_title：Nature genetics

authors： Arsenijevic D,Onuma H,Pecqueur C,Raimbault S,Manning BS,Miroux B,Couplan E,Alves-Guerra MC,Goubern M,Surwit R,Bouillaud F,Richard D,Collins S,Ricquier D

更新日期：2000-12-01 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

authors： Sanna S,Pitzalis M,Zoledziewska M,Zara I,Sidore C,Murru R,Whalen MB,Busonero F,Maschio A,Costa G,Melis MC,Deidda F,Poddie F,Morelli L,Farina G,Li Y,Dei M,Lai S,Mulas A,Cuccuru G,Porcu E,Liang L,Zavattari P,M

更新日期：2010-06-01 00:00:00

abstract：:Mycobacterium tuberculosis strains of the Beijing lineage are globally distributed and are associated with the massive spread of multidrug-resistant (MDR) tuberculosis in Eurasia. Here we reconstructed the biogeographical structure and evolutionary history of this lineage by genetic analysis of 4,987 isolates from 99 ...

journal_title：Nature genetics

authors： Merker M,Blin C,Mona S,Duforet-Frebourg N,Lecher S,Willery E,Blum MG,Rüsch-Gerdes S,Mokrousov I,Aleksic E,Allix-Béguec C,Antierens A,Augustynowicz-Kopeć E,Ballif M,Barletta F,Beck HP,Barry CE 3rd,Bonnet M,Borroni E,

更新日期：2015-03-01 00:00:00

abstract：:Schistosoma mansoni is the primary causative agent of schistosomiasis, which affects 200 million individuals in 74 countries. We generated 163,000 expressed-sequence tags (ESTs) from normalized cDNA libraries from six selected developmental stages of the parasite, resulting in 31,000 assembled sequences and 92% sampli...

journal_title：Nature genetics

authors： Verjovski-Almeida S,DeMarco R,Martins EA,Guimarães PE,Ojopi EP,Paquola AC,Piazza JP,Nishiyama MY Jr,Kitajima JP,Adamson RE,Ashton PD,Bonaldo MF,Coulson PS,Dillon GP,Farias LP,Gregorio SP,Ho PL,Leite RA,Malaquias LC,

更新日期：2003-10-01 00:00:00

abstract：:Cell division is controlled by a series of positive and negative regulators which act at sequential points throughout the cell cycle. Disturbance of these checks could contribute to cancer by allowing excessive cell proliferation. The point in G1 at which cells irrevocably commit to DNA synthesis is controlled by prot...

journal_title：Nature genetics

authors： Ranade K,Hussussian CJ,Sikorski RS,Varmus HE,Goldstein AM,Tucker MA,Serrano M,Hannon GJ,Beach D,Dracopoli NC

更新日期：1995-05-01 00:00:00

abstract：:Pancreatic cancer has the lowest survival rate among human cancers, and there are no effective markers for its screening and early diagnosis. To identify genetic susceptibility markers for this cancer, we carried out a genome-wide association study on 981 individuals with pancreatic cancer (cases) and 1,991 cancer-fre...

journal_title：Nature genetics

authors： Wu C,Miao X,Huang L,Che X,Jiang G,Yu D,Yang X,Cao G,Hu Z,Zhou Y,Zuo C,Wang C,Zhang X,Zhou Y,Yu X,Dai W,Li Z,Shen H,Liu L,Chen Y,Zhang S,Wang X,Zhai K,Chang J,Liu Y,Sun M,Cao W,Gao J,Ma Y,Zheng X

更新日期：2011-12-11 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：:Communication between distal chromosomal elements is essential for control of many nuclear processes. For example, genes in higher eukaryotes often require distant enhancer sequences for high-level expression. The mechanisms proposed for long-range enhancer action fall into two basic categories. Non-contact models pro...

journal_title：Nature genetics

authors： Carter D,Chakalova L,Osborne CS,Dai YF,Fraser P

更新日期：2002-12-01 00:00:00

abstract：:Genome-wide association studies have identified several risk associations for ovarian carcinomas but not for mucinous ovarian carcinomas (MOCs). Our analysis of 1,644 MOC cases and 21,693 controls with imputation identified 3 new risk associations: rs752590 at 2q13 (P = 3.3 × 10(-8)), rs711830 at 2q31.1 (P = 7.5 × 10(...

journal_title：Nature genetics

authors： Kelemen LE,Lawrenson K,Tyrer J,Li Q,Lee JM,Seo JH,Phelan CM,Beesley J,Chen X,Spindler TJ,Aben KK,Anton-Culver H,Antonenkova N,Australian Cancer Study.,Australian Ovarian Cancer Study Group.,Ovarian Cancer Association Consor

更新日期：2015-08-01 00:00:00

abstract：:1 alpha,25-Dihydroxyvitamin D3[1 alpha,25(OH)2D3], an active form of vitamin D, has roles in many biological phenomena such as calcium homeostasis and bone formation, which are thought to be mediated by the 1 alpha,25(OH)2D3 receptor (VDR), a member of the nuclear hormone receptor superfamily. However, the molecular b...

journal_title：Nature genetics

authors： Yoshizawa T,Handa Y,Uematsu Y,Takeda S,Sekine K,Yoshihara Y,Kawakami T,Arioka K,Sato H,Uchiyama Y,Masushige S,Fukamizu A,Matsumoto T,Kato S

更新日期：1997-08-01 00:00:00

abstract：:Exome sequencing has become a powerful and effective strategy for the discovery of genes underlying Mendelian disorders. However, use of exome sequencing to identify variants associated with complex traits has been more challenging, partly because the sample sizes needed for adequate power may be very large. One strat...

journal_title：Nature genetics

authors： Emond MJ,Louie T,Emerson J,Zhao W,Mathias RA,Knowles MR,Wright FA,Rieder MJ,Tabor HK,Nickerson DA,Barnes KC,National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Project.,Lung GO.,Gibson RL,Bamshad MJ

更新日期：2012-07-08 00:00:00

abstract：:We took advantage of overlapping interstitial deletions at chromosome 8p11-p12 in two individuals with contiguous gene syndromes and defined an interval of roughly 540 kb associated with a dominant form of Kallmann syndrome, KAL2. We establish here that loss-of-function mutations in FGFR1 underlie KAL2 whereas a gain-...

journal_title：Nature genetics

authors： Dodé C,Levilliers J,Dupont JM,De Paepe A,Le Dû N,Soussi-Yanicostas N,Coimbra RS,Delmaghani S,Compain-Nouaille S,Baverel F,Pêcheux C,Le Tessier D,Cruaud C,Delpech M,Speleman F,Vermeulen S,Amalfitano A,Bachelot Y,Boucha

更新日期：2003-04-01 00:00:00

abstract：:Somatic rearrangements contribute to the mutagenized landscape of cancer genomes. Here, we systematically interrogated rearrangements in 560 breast cancers by using a piecewise constant fitting approach. We identified 33 hotspots of large (>100 kb) tandem duplications, a mutational signature associated with homologous...

journal_title：Nature genetics

authors： Glodzik D,Morganella S,Davies H,Simpson PT,Li Y,Zou X,Diez-Perez J,Staaf J,Alexandrov LB,Smid M,Brinkman AB,Rye IH,Russnes H,Raine K,Purdie CA,Lakhani SR,Thompson AM,Birney E,Stunnenberg HG,van de Vijver MJ,Marten

更新日期：2017-03-01 00:00:00

abstract：:We have investigated the pathogenetic mechanism of the mitochondrial tRNA(Lys) gene mutation (position 8344) associated with MERRF encephalomyopathy in several mitochondrial DNA (mtDNA)-less cell transformants carrying the mutation and in control cells. A decrease of 50-60% in the specific tRNA(Lys) aminoacylation cap...

journal_title：Nature genetics

authors： Enriquez JA,Chomyn A,Attardi G

更新日期：1995-05-01 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： Malik R,Chauhan G,Traylor M,Sargurupremraj M,Okada Y,Mishra A,Rutten-Jacobs L,Giese AK,van der Laan SW,Gretarsdottir S,Anderson CD,Chong M,Adams HHH,Ago T,Almgren P,Amouyel P,Ay H,Bartz TM,Benavente OR,Bevan S,Bon

更新日期：2019-07-01 00:00:00

abstract：:To identify genetic markers for laryngeal squamous cell carcinoma (LSCC), we conducted a genome-wide association study (GWAS) on 993 individuals with LSCC (cases) and 1,995 cancer-free controls from Chinese populations. The most promising variants (association P < 1 × 10(-5)) were then replicated in 3 independent sets...

journal_title：Nature genetics

authors： Wei Q,Yu D,Liu M,Wang M,Zhao M,Liu M,Jia W,Ma H,Fang J,Xu W,Chen K,Xu Z,Wang J,Tian L,Yuan H,Chang J,Hu Z,Wei L,Huang Y,Han Y,Liu J,Han D,Shen H,Yang S,Zheng H,Ji Q,Li D,Tan W,Wu C,Lin D

更新日期：2014-10-01 00:00:00

abstract：:The Drosophila melanogaster gene Dscam is essential for axon guidance and has 38,016 possible alternative splice forms. This diversity can potentially be used to distinguish cells. We analyzed the Dscam mRNA isoforms expressed by different cell types and individual cells. The choice of splice variants expressed is reg...

journal_title：Nature genetics

authors： Neves G,Zucker J,Daly M,Chess A

更新日期：2004-03-01 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：:Systemic lupus erythematosus (SLE) is a complex autoimmune disease that causes substantial morbidity. As is typical for many other multifactorial disorders, much of the heritability of SLE remains unknown. We identified a rare autosomal recessive form of SLE, in which autozygome analysis revealed a null mutation in th...

journal_title：Nature genetics

authors： Al-Mayouf SM,Sunker A,Abdwani R,Abrawi SA,Almurshedi F,Alhashmi N,Al Sonbul A,Sewairi W,Qari A,Abdallah E,Al-Owain M,Al Motywee S,Al-Rayes H,Hashem M,Khalak H,Al-Jebali L,Alkuraya FS

更新日期：2011-10-23 00:00:00

abstract：:Pelger-Huët anomaly (PHA; OMIM *169400) is an autosomal dominant disorder characterized by abnormal nuclear shape and chromatin organization in blood granulocytes. Affected individuals show hypolobulated neutrophil nuclei with coarse chromatin. Presumed homozygous individuals have ovoid neutrophil nuclei, as well as v...

journal_title：Nature genetics

authors： Hoffmann K,Dreger CK,Olins AL,Olins DE,Shultz LD,Lucke B,Karl H,Kaps R,Müller D,Vayá A,Aznar J,Ware RE,Sotelo Cruz N,Lindner TH,Herrmann H,Reis A,Sperling K

更新日期：2002-08-01 00:00:00

abstract：:Pituitary adenoma is one of the most common intracranial neoplasms, and its genetic basis remains largely unknown. To identify genetic susceptibility loci for sporadic pituitary adenoma, we performed a three-stage genome-wide association study (GWAS) in the Han Chinese population. We first analyzed genome-wide SNP dat...

journal_title：Nature genetics

authors： Ye Z,Li Z,Wang Y,Mao Y,Shen M,Zhang Q,Li S,Zhou L,Shou X,Chen J,Song Z,Ma Z,Zhang Z,Li Y,Ye H,Huang C,Wang T,He W,Zhang Y,Xie R,Qiao N,Qiu H,Huang S,Wang M,Shen J,Wen Z,Li W,Liu K,Zhou J,Wang L,

更新日期：2015-07-01 00:00:00