Gene regulatory network growth by duplication.

abstract：:Uterine leiomyomata (fibroids) are common and clinically important tumors, but little is known about their etiology and pathogenesis. We previously mapped a gene that predisposes to multiple fibroids, cutaneous leiomyomata and renal cell carcinoma to chromosome 1q42.3-q43 (refs 4-6). Here we show, through a combinatio...

journal_title：Nature genetics

authors： Tomlinson IP,Alam NA,Rowan AJ,Barclay E,Jaeger EE,Kelsell D,Leigh I,Gorman P,Lamlum H,Rahman S,Roylance RR,Olpin S,Bevan S,Barker K,Hearle N,Houlston RS,Kiuru M,Lehtonen R,Karhu A,Vilkki S,Laiho P,Eklund C,Vie

更新日期：2002-04-01 00:00:00

abstract：:Micro RNAs are a large family of noncoding RNAs of 21-22 nucleotides whose functions are generally unknown. Here a large subset of Drosophila micro RNAs is shown to be perfectly complementary to several classes of sequence motif previously demonstrated to mediate negative post-transcriptional regulation. These finding...

journal_title：Nature genetics

authors： Lai EC

更新日期：2002-04-01 00:00:00

abstract：:Autosomal recessive polycystic kidney disease (ARPKD) is characterized by dilation of collecting ducts and by biliary dysgenesis and is an important cause of renal- and liver-related morbidity and mortality. Genetic analysis of a rat with recessive polycystic kidney disease revealed an orthologous relationship between...

journal_title：Nature genetics

authors： Ward CJ,Hogan MC,Rossetti S,Walker D,Sneddon T,Wang X,Kubly V,Cunningham JM,Bacallao R,Ishibashi M,Milliner DS,Torres VE,Harris PC

更新日期：2002-03-01 00:00:00

abstract：:In a recent genome-wide association study of generalized vitiligo, we identified ten confirmed susceptibility loci. By testing additional loci that showed suggestive association in the genome-wide study, using two replication cohorts of European descent, we observed replicated association of generalized vitiligo with ...

journal_title：Nature genetics

authors： Jin Y,Birlea SA,Fain PR,Mailloux CM,Riccardi SL,Gowan K,Holland PJ,Bennett DC,Wallace MR,McCormack WT,Kemp EH,Gawkrodger DJ,Weetman AP,Picardo M,Leone G,Taïeb A,Jouary T,Ezzedine K,van Geel N,Lambert J,Overbeck A

更新日期：2010-07-01 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：:The cardiac homeobox protein Nkx2-5 is essential in cardiac development, and mutations in Csx (which encodes Nkx2-5) cause various congenital heart diseases. Using the yeast two-hybrid system with Nkx2-5 as the 'bait', we isolated the T-box-containing transcription factor Tbx5; mutations in TBX5 cause heart and limb m...

journal_title：Nature genetics

authors： Hiroi Y,Kudoh S,Monzen K,Ikeda Y,Yazaki Y,Nagai R,Komuro I

更新日期：2001-07-01 00:00:00

abstract：:Crosses between the two North American rodent species Peromyscus polionotus (PO) and Peromyscus maniculatus (BW) yield parent-of-origin effects on both embryonic and placental growth. The two species are approximately the same size, but a female BW crossed with a male PO produces offspring that are smaller than either...

journal_title：Nature genetics

authors： Vrana PB,Fossella JA,Matteson P,del Rio T,O'Neill MJ,Tilghman SM

更新日期：2000-05-01 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：:Graves' disease is a common autoimmune disorder characterized by thyroid stimulating hormone receptor autoantibodies (TRAb) and hyperthyroidism. To investigate the genetic architecture of Graves' disease, we conducted a genome-wide association study in 1,536 individuals with Graves' disease (cases) and 1,516 controls....

journal_title：Nature genetics

authors： Chu X,Pan CM,Zhao SX,Liang J,Gao GQ,Zhang XM,Yuan GY,Li CG,Xue LQ,Shen M,Liu W,Xie F,Yang SY,Wang HF,Shi JY,Sun WW,Du WH,Zuo CL,Shi JX,Liu BL,Guo CC,Zhan M,Gu ZH,Zhang XN,Sun F,Wang ZQ,Song ZY,Zou CY

更新日期：2011-08-14 00:00:00

abstract：:We carried out whole-genome homozygosity mapping, gene expression analysis and DNA sequencing in individuals with isolated mitochondrial ATP synthase deficiency and identified disease-causing mutations in TMEM70. Complementation of the cell lines of these individuals with wild-type TMEM70 restored biogenesis and metab...

journal_title：Nature genetics

authors： Cízková A,Stránecký V,Mayr JA,Tesarová M,Havlícková V,Paul J,Ivánek R,Kuss AW,Hansíková H,Kaplanová V,Vrbacký M,Hartmannová H,Nosková L,Honzík T,Drahota Z,Magner M,Hejzlarová K,Sperl W,Zeman J,Houstek J,Kmoch S

更新日期：2008-11-01 00:00:00

abstract：:Integrity of the blood vessel wall is essential for vascular homeostasis and organ function. A dynamic balance between endothelial cell survival and apoptosis contributes to this integrity during vascular development and pathological angiogenesis. The genetic and molecular mechanisms regulating these processes in vivo...

journal_title：Nature genetics

authors： Santoro MM,Samuel T,Mitchell T,Reed JC,Stainier DY

更新日期：2007-11-01 00:00:00

abstract：:Deletions of the PAFAH1B1 gene (encoding LIS1) in 17p13.3 result in isolated lissencephaly sequence, and extended deletions including the YWHAE gene (encoding 14-3-3epsilon) cause Miller-Dieker syndrome. We identified seven unrelated individuals with submicroscopic duplication in 17p13.3 involving the PAFAH1B1 and/or ...

journal_title：Nature genetics

authors： Bi W,Sapir T,Shchelochkov OA,Zhang F,Withers MA,Hunter JV,Levy T,Shinder V,Peiffer DA,Gunderson KL,Nezarati MM,Shotts VA,Amato SS,Savage SK,Harris DJ,Day-Salvatore DL,Horner M,Lu XY,Sahoo T,Yanagawa Y,Beaudet AL,

更新日期：2009-02-01 00:00:00

abstract：:A study of genetic variation in yeast has identified key quantitative trait loci (QTLs) that suppress the effects of variation at multiple other loci. These loci prove essential to accurately modeling yeast growth in response to different environments. ...

journal_title：Nature genetics

authors： Tyler AL,Carter GW

更新日期：2017-03-30 00:00:00

abstract：:The lipodystrophies are a group of disorders characterized by the absence or reduction of subcutaneous adipose tissue. Partial lipodystrophy (PLD; MIM 151660) is an inherited condition in which a regional (trunk and limbs) loss of fat occurs during the peri-pubertal phase. Additionally, variable degrees of resistance ...

journal_title：Nature genetics

authors： Shackleton S,Lloyd DJ,Jackson SN,Evans R,Niermeijer MF,Singh BM,Schmidt H,Brabant G,Kumar S,Durrington PN,Gregory S,O'Rahilly S,Trembath RC

更新日期：2000-02-01 00:00:00

abstract：:Notch and the m9/10 gene (groucho) of the Enhancer of split (E(spI)) complex are members of the "Notch group" of genes, which is required for a variety of cell fate choices in Drosophila. We have characterized human cDNA clones encoding a family of proteins, designated TLE, that are homologous to the E(spI) m9/10 gene...

journal_title：Nature genetics

authors： Stifani S,Blaumueller CM,Redhead NJ,Hill RE,Artavanis-Tsakonas S

更新日期：1992-10-01 00:00:00

abstract：:We performed a meta-analysis of 14 genome-wide association studies of coronary artery disease (CAD) comprising 22,233 individuals with CAD (cases) and 64,762 controls of European descent followed by genotyping of top association signals in 56,682 additional individuals. This analysis identified 13 loci newly associate...

journal_title：Nature genetics

authors： Schunkert H,König IR,Kathiresan S,Reilly MP,Assimes TL,Holm H,Preuss M,Stewart AF,Barbalic M,Gieger C,Absher D,Aherrahrou Z,Allayee H,Altshuler D,Anand SS,Andersen K,Anderson JL,Ardissino D,Ball SG,Balmforth AJ,Ba

更新日期：2011-03-06 00:00:00

abstract：:Many genes associated with CpG islands undergo de novo methylation in cancer. Studies have suggested that the pattern of this modification may be partially determined by an instructive mechanism that recognizes specifically marked regions of the genome. Using chromatin immunoprecipitation analysis, here we show that g...

journal_title：Nature genetics

authors： Schlesinger Y,Straussman R,Keshet I,Farkash S,Hecht M,Zimmerman J,Eden E,Yakhini Z,Ben-Shushan E,Reubinoff BE,Bergman Y,Simon I,Cedar H

更新日期：2007-02-01 00:00:00

abstract：:The ages of puberty, first sexual intercourse and first birth signify the onset of reproductive ability, behavior and success, respectively. In a genome-wide association study of 125,667 UK Biobank participants, we identify 38 loci associated (P < 5 × 10(-8)) with age at first sexual intercourse. These findings were t...

journal_title：Nature genetics

authors： Day FR,Helgason H,Chasman DI,Rose LM,Loh PR,Scott RA,Helgason A,Kong A,Masson G,Magnusson OT,Gudbjartsson D,Thorsteinsdottir U,Buring JE,Ridker PM,Sulem P,Stefansson K,Ong KK,Perry JRB

更新日期：2016-06-01 00:00:00

abstract：:The role of human chromosome 2 in type 1 diabetes was evaluated by analysing linkage and linkage disequilibrium at 21 microsatellite marker loci, using 348 affected sibpair families and 107 simplex families. The microsatellite D2S152 was linked to, and associated with, disease in families from three different populati...

journal_title：Nature genetics

authors： Copeman JB,Cucca F,Hearne CM,Cornall RJ,Reed PW,Rønningen KS,Undlien DE,Nisticò L,Buzzetti R,Tosi R

更新日期：1995-01-01 00:00:00

abstract：:Alström syndrome (OMIM 203800) is an autosomal recessive disease, characterized by cone-rod retinal dystrophy, cardiomyopathy and type 2 diabetes mellitus, that has been mapped to chromosome 2p13 (refs 1-5). We have studied an individual with Alström syndrome carrying a familial balanced reciprocal chromosome transloc...

journal_title：Nature genetics

authors： Hearn T,Renforth GL,Spalluto C,Hanley NA,Piper K,Brickwood S,White C,Connolly V,Taylor JF,Russell-Eggitt I,Bonneau D,Walker M,Wilson DI

更新日期：2002-05-01 00:00:00

abstract：:New genetic data has enabled scientists to re-examine the relationship between human genetic variation and 'race'. We review the results of genetic analyses that show that human genetic variation is geographically structured, in accord with historical patterns of gene flow and genetic drift. Analysis of many loci now ...

journal_title：Nature genetics

authors： Jorde LB,Wooding SP

更新日期：2004-11-01 00:00:00

abstract：:Expansion of trinucleotide repeats can give rise to genetic disease. We have developed a technique, repeat expansion detection (RED), that can identify potentially pathological repeat expansion without prior knowledge of chromosomal location. Human genomic DNA is used as a template for a two-step cycling process that ...

journal_title：Nature genetics

authors： Schalling M,Hudson TJ,Buetow KH,Housman DE

更新日期：1993-06-01 00:00:00

abstract：:The overgrowth- and tumor-associated Beckwith-Wiedemann syndrome results from dysregulation of imprinted genes on chromosome 11p15.5. Here we show that inherited microdeletions in the H19 differentially methylated region (DMR) that abolish two CTCF target sites cause this disease. Maternal transmission of the deletion...

journal_title：Nature genetics

authors： Sparago A,Cerrato F,Vernucci M,Ferrero GB,Silengo MC,Riccio A

更新日期：2004-09-01 00:00:00

abstract：:Extremes of the electrocardiographic QT interval, a measure of cardiac repolarization, are associated with increased cardiovascular mortality. We identified a common genetic variant influencing this quantitative trait through a genome-wide association study on 200 subjects at the extremes of a population-based QT inte...

journal_title：Nature genetics

authors： Arking DE,Pfeufer A,Post W,Kao WH,Newton-Cheh C,Ikeda M,West K,Kashuk C,Akyol M,Perz S,Jalilzadeh S,Illig T,Gieger C,Guo CY,Larson MG,Wichmann HE,Marbán E,O'Donnell CJ,Hirschhorn JN,Kääb S,Spooner PM,Meitinger T

更新日期：2006-06-01 00:00:00

abstract：:Retinitis pigmentosa is an untreatable, inherited retinal disease that leads to blindness. The disease initiates with the loss of night vision due to rod photoreceptor degeneration, followed by irreversible, progressive loss of cone photoreceptor. Cone loss is responsible for the main visual handicap, as cones are ess...

journal_title：Nature genetics

authors： Léveillard T,Mohand-Saïd S,Lorentz O,Hicks D,Fintz AC,Clérin E,Simonutti M,Forster V,Cavusoglu N,Chalmel F,Dollé P,Poch O,Lambrou G,Sahel JA

更新日期：2004-07-01 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：:Copy number variations (CNVs) often include noncoding sequences and putative enhancers, but how these rearrangements induce disease is poorly understood. Here we investigate CNVs involving the regulatory landscape of IHH (encoding Indian hedgehog), which cause multiple, highly localized phenotypes including craniosyno...

journal_title：Nature genetics

authors： Will AJ,Cova G,Osterwalder M,Chan WL,Wittler L,Brieske N,Heinrich V,de Villartay JP,Vingron M,Klopocki E,Visel A,Lupiáñez DG,Mundlos S

更新日期：2017-10-01 00:00:00

abstract：:A new study reports molecular characterization of the GDF5 locus, which is associated with osteoarthritis risk and adult height in humans. This study provides evidence of positive selection for short stature at GDF5 in modern humans, as well as in archaic Neandertals and Denisovans. ...

journal_title：Nature genetics

authors： Lettre G

更新日期：2017-07-27 00:00:00

abstract：:Bone mineral density (BMD) is the most widely used predictor of fracture risk. We performed the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 genome-wide association studies and 32,961 individuals of European and east Asian ancestry. We tested the top BMD-associated markers for repli...

journal_title：Nature genetics

authors： Estrada K,Styrkarsdottir U,Evangelou E,Hsu YH,Duncan EL,Ntzani EE,Oei L,Albagha OM,Amin N,Kemp JP,Koller DL,Li G,Liu CT,Minster RL,Moayyeri A,Vandenput L,Willner D,Xiao SM,Yerges-Armstrong LM,Zheng HF,Alonso N,E

更新日期：2012-04-15 00:00:00

abstract：:Metastasis is the leading cause of death in people with lung cancer, yet the molecular effectors underlying tumor dissemination remain poorly defined. Through the development of an in vivo spontaneous lung cancer metastasis model, we show that the developmentally regulated transcriptional repressor Capicua (CIC) suppr...

journal_title：Nature genetics

authors： Okimoto RA,Breitenbuecher F,Olivas VR,Wu W,Gini B,Hofree M,Asthana S,Hrustanovic G,Flanagan J,Tulpule A,Blakely CM,Haringsma HJ,Simmons AD,Gowen K,Suh J,Miller VA,Ali S,Schuler M,Bivona TG

更新日期：2017-01-01 00:00:00