Public resources aid diabetes gene discovery.

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：:Desmin-related myopathies (DRM) are inherited neuromuscular disorders characterized by adult onset and delayed accumulation of aggregates of desmin, a protein belonging to the type III intermediate filament family, in the sarcoplasma of skeletal and cardiac muscles. In this paper, we have mapped the locus for DRM in a...

journal_title：Nature genetics

authors： Vicart P,Caron A,Guicheney P,Li Z,Prévost MC,Faure A,Chateau D,Chapon F,Tomé F,Dupret JM,Paulin D,Fardeau M

更新日期：1998-09-01 00:00:00

abstract：:Endometrial cancer is the most common malignancy of the female genital tract in developed countries. To identify genetic variants associated with endometrial cancer risk, we performed a genome-wide association study involving 1,265 individuals with endometrial cancer (cases) from Australia and the UK and 5,190 control...

journal_title：Nature genetics

authors： Spurdle AB,Thompson DJ,Ahmed S,Ferguson K,Healey CS,O'Mara T,Walker LC,Montgomery SB,Dermitzakis ET,Australian National Endometrial Cancer Study Group.,Fahey P,Montgomery GW,Webb PM,Fasching PA,Beckmann MW,Ekici AB,Hein A

更新日期：2011-05-01 00:00:00

abstract：:Despite advances in sequencing, the goal of obtaining a comprehensive view of genetic variation in populations is still far from reached. We sequenced 180 lines of A. thaliana from Sweden to obtain as complete a picture as possible of variation in a single region. Whereas simple polymorphisms in the unique portion of ...

journal_title：Nature genetics

authors： Long Q,Rabanal FA,Meng D,Huber CD,Farlow A,Platzer A,Zhang Q,Vilhjálmsson BJ,Korte A,Nizhynska V,Voronin V,Korte P,Sedman L,Mandáková T,Lysak MA,Seren Ü,Hellmann I,Nordborg M

更新日期：2013-08-01 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：:Dentinogenesis imperfecta 1 (DGI1, MIM 125490) is an autosomal dominant dental disease characterized by abnormal dentin production and mineralization. The DGI1 locus was recently refined to a 2-Mb interval on 4q21 (ref. 1). Here we study three Chinese families carrying DGI1. We find that the affected individuals of tw...

journal_title：Nature genetics

authors： Xiao S,Yu C,Chou X,Yuan W,Wang Y,Bu L,Fu G,Qian M,Yang J,Shi Y,Hu L,Han B,Wang Z,Huang W,Liu J,Chen Z,Zhao G,Kong X

更新日期：2001-02-01 00:00:00

abstract：:Several attributes intuitively considered to be typical mammalian features, such as complex behavior, live birth and malignant disease such as cancer, also appeared several times independently in lower vertebrates. The genetic mechanisms underlying the evolution of these elaborate traits are poorly understood. The pla...

journal_title：Nature genetics

authors： Schartl M,Walter RB,Shen Y,Garcia T,Catchen J,Amores A,Braasch I,Chalopin D,Volff JN,Lesch KP,Bisazza A,Minx P,Hillier L,Wilson RK,Fuerstenberg S,Boore J,Searle S,Postlethwait JH,Warren WC

更新日期：2013-05-01 00:00:00

abstract：:To further resolve the genetic architecture of the inflammatory bowel diseases ulcerative colitis and Crohn's disease, we sequenced the whole genomes of 4,280 patients at low coverage and compared them to 3,652 previously sequenced population controls across 73.5 million variants. We then imputed from these sequences ...

journal_title：Nature genetics

authors： Luo Y,de Lange KM,Jostins L,Moutsianas L,Randall J,Kennedy NA,Lamb CA,McCarthy S,Ahmad T,Edwards C,Serra EG,Hart A,Hawkey C,Mansfield JC,Mowat C,Newman WG,Nichols S,Pollard M,Satsangi J,Simmons A,Tremelling M,Uh

更新日期：2017-02-01 00:00:00

abstract：:The Syrian cardiomyopathic hamster (BIO14.6) has an inherited form of progressive myocardial necrosis and congestive heart failure. Although widely studied as an animal model for human hypertrophic cardiomyopathy, further genetic analysis has been limited by a scarcity of DNA markers. Until now, only six autosomal lin...

journal_title：Nature genetics

authors： Okazaki Y,Okuizumi H,Ohsumi T,Nomura O,Takada S,Kamiya M,Sasaki N,Matsuda Y,Nishimura M,Tagaya O,Muramatsu M,Hayashizaki Y

更新日期：1996-05-01 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：:Green toads are common in the Palaearctic region, where they have differentiated into several taxa. The toads exist with variable amounts of ploidy, similar to other anuran species or reptiles. In vertebrate biology, the very rare occurrence of triploidy is coupled with infertility or unisexuality, or requires the coe...

journal_title：Nature genetics

authors： Stöck M,Lamatsch DK,Steinlein C,Epplen JT,Grosse WR,Hock R,Klapperstück T,Lampert KP,Scheer U,Schmid M,Schartl M

更新日期：2002-03-01 00:00:00

abstract：:Impaired testicular descent (cryptorchidism) is one of the most frequent congenital abnormalities in humans, involving 2% of male births. Cryptorchidism can result in infertility and increases risk for development of germ-cell tumours. Testicular descent from abdomen to scrotum occurs in two distinct phases: the trans...

journal_title：Nature genetics

authors： Nef S,Parada LF

更新日期：1999-07-01 00:00:00

abstract：:Dilated cardiomyopathy (DCM) is a highly heterogeneous trait with sarcomeric gene mutations predominating. The cause of a substantial percentage of DCMs remains unknown, and no gene-specific therapy is available. On the basis of resequencing of 513 DCM cases and 1,150 matched controls from various cohorts of distinct ...

journal_title：Nature genetics

authors： Dhandapany PS,Razzaque MA,Muthusami U,Kunnoth S,Edwards JJ,Mulero-Navarro S,Riess I,Pardo S,Sheng J,Rani DS,Rani B,Govindaraj P,Flex E,Yokota T,Furutani M,Nishizawa T,Nakanishi T,Robbins J,Limongelli G,Hajjar RJ,L

更新日期：2014-06-01 00:00:00

abstract：:MicroRNAs (miRNAs) are key regulators of gene expression in animals and plants. Studies in a variety of model organisms show that miRNAs modulate developmental processes. To our knowledge, the only hereditary condition known to be caused by a miRNA is a form of adult-onset non-syndromic deafness, and no miRNA mutation...

journal_title：Nature genetics

authors： de Pontual L,Yao E,Callier P,Faivre L,Drouin V,Cariou S,Van Haeringen A,Geneviève D,Goldenberg A,Oufadem M,Manouvrier S,Munnich A,Vidigal JA,Vekemans M,Lyonnet S,Henrion-Caude A,Ventura A,Amiel J

更新日期：2011-09-04 00:00:00

abstract：:Spinocerebellar ataxia type I (SCAI) is an autosomal dominant neurodegenerative disease caused by the expansion of a CAG trinucleotide repeat on chromosome 6p. Normal alleles range from 19-36 repeats while SCA1 alleles contain 43-81 repeats. We now show that in 63% of paternal transmissions, an increase in repeat numb...

journal_title：Nature genetics

authors： Chung MY,Ranum LP,Duvick LA,Servadio A,Zoghbi HY,Orr HT

更新日期：1993-11-01 00:00:00

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

authors： Cahan P

更新日期：2016-03-01 00:00:00

abstract：:The capacity of microbial pathogens to alter their host tropism leading to epidemics in distinct host species populations is a global public and veterinary health concern. To investigate the molecular basis of a bacterial host-switching event in a tractable host species, we traced the evolutionary trajectory of the co...

journal_title：Nature genetics

authors： Viana D,Comos M,McAdam PR,Ward MJ,Selva L,Guinane CM,González-Muñoz BM,Tristan A,Foster SJ,Fitzgerald JR,Penadés JR

更新日期：2015-04-01 00:00:00

abstract：:During evolution different genes evolve at unequal rates, reflecting the varying functional constraints on phenotype. An important contributor to this variation is genetic buffering, which reduces the potential detrimental effects of mutations. We studied whether gene duplication and redundant metabolic networks affec...

journal_title：Nature genetics

authors： Kitami T,Nadeau JH

更新日期：2002-09-01 00:00:00

abstract：:Genomic and proteomic approaches can provide hypotheses concerning function for the large number of genes predicted from genome sequences. Because of the artificial nature of the assays, however, the information from these high-throughput approaches should be considered with caution. Although it is possible that more ...

journal_title：Nature genetics

authors： Ge H,Liu Z,Church GM,Vidal M

更新日期：2001-12-01 00:00:00

abstract：:Recovery from blood loss requires a greatly enhanced supply of iron to support expanded erythropoiesis. After hemorrhage, suppression of the iron-regulatory hormone hepcidin allows increased iron absorption and mobilization from stores. We identified a new hormone, erythroferrone (ERFE), that mediates hepcidin suppres...

journal_title：Nature genetics

authors： Kautz L,Jung G,Valore EV,Rivella S,Nemeth E,Ganz T

更新日期：2014-07-01 00:00:00

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 ...

journal_title：Nature genetics

authors： 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 KM

更新日期：2009-08-01 00:00:00

abstract：:The histone variant H3.3 is enriched at enhancers and active genes, as well as repeat regions such as telomeres and retroelements, in mouse embryonic stem cells (mESCs)1-3. Although recent studies demonstrate a role for H3.3 and its chaperones in establishing heterochromatin at repeat regions4-8, the function of H3.3 ...

journal_title：Nature genetics

authors： Martire S,Gogate AA,Whitmill A,Tafessu A,Nguyen J,Teng YC,Tastemel M,Banaszynski LA

更新日期：2019-06-01 00:00:00

abstract：:Monogenic causes of autoimmunity provide key insights into the complex regulation of the immune system. We report a new monogenic cause of autoimmunity resulting from de novo germline activating STAT3 mutations in five individuals with a spectrum of early-onset autoimmune disease, including type 1 diabetes. These find...

journal_title：Nature genetics

authors： Flanagan SE,Haapaniemi E,Russell MA,Caswell R,Allen HL,De Franco E,McDonald TJ,Rajala H,Ramelius A,Barton J,Heiskanen K,Heiskanen-Kosma T,Kajosaari M,Murphy NP,Milenkovic T,Seppänen M,Lernmark Å,Mustjoki S,Otonkoski T

更新日期：2014-08-01 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：:Plants intimately associate with diverse bacteria. Plant-associated bacteria have ostensibly evolved genes that enable them to adapt to plant environments. However, the identities of such genes are mostly unknown, and their functions are poorly characterized. We sequenced 484 genomes of bacterial isolates from roots o...

journal_title：Nature genetics

authors： Levy A,Salas Gonzalez I,Mittelviefhaus M,Clingenpeel S,Herrera Paredes S,Miao J,Wang K,Devescovi G,Stillman K,Monteiro F,Rangel Alvarez B,Lundberg DS,Lu TY,Lebeis S,Jin Z,McDonald M,Klein AP,Feltcher ME,Rio TG,Grant

更新日期：2017-12-18 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：: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：: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：:Hundreds of genes reside in structurally complex, poorly understood regions of the human genome. One such region contains the three amylase genes (AMY2B, AMY2A and AMY1) responsible for digesting starch into sugar. Copy number of AMY1 is reported to be the largest genomic influence on obesity, although genome-wide ass...

journal_title：Nature genetics

authors： Usher CL,Handsaker RE,Esko T,Tuke MA,Weedon MN,Hastie AR,Cao H,Moon JE,Kashin S,Fuchsberger C,Metspalu A,Pato CN,Pato MT,McCarthy MI,Boehnke M,Altshuler DM,Frayling TM,Hirschhorn JN,McCarroll SA

更新日期：2015-08-01 00:00:00

abstract：:Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL; MIM 221770), also known as Nasu-Hakola disease, is a recessively inherited disease characterized by a combination of psychotic symptoms rapidly progressing to presenile dementia and bone cysts restricted to wrists and ankles. PLOSL ha...

journal_title：Nature genetics

authors： Paloneva J,Kestilä M,Wu J,Salminen A,Böhling T,Ruotsalainen V,Hakola P,Bakker AB,Phillips JH,Pekkarinen P,Lanier LL,Timonen T,Peltonen L

更新日期：2000-07-01 00:00:00