Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.

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：:The morphogenesis of the brain and the differentiation of the neural structures are highly complex processes. A series of temporally and spatially regulated morphogenetic events gives rise to smaller areas that are phylogenetically, functionally and often morphogenetically different. Candidate genes for positional inf...

journal_title：Nature genetics

authors： Acampora D,Mazan S,Avantaggiato V,Barone P,Tuorto F,Lallemand Y,Brûlet P,Simeone A

更新日期：1996-10-01 00:00:00

abstract：:Plasma iron circulates bound to transferrin (Trf), which solubilizes the ferric ion and attenuates its reactivity. Diferric Trf interacts with cell-surface Trf receptor (Trfr) to undergo receptor-mediated endocytosis into specialized endosomes. Endosomal acidification leads to iron release, and iron is transported out...

journal_title：Nature genetics

authors： Levy JE,Jin O,Fujiwara Y,Kuo F,Andrews NC

更新日期：1999-04-01 00:00:00

abstract：:Novel approaches to the structural and functional analysis of mammalian chromosomes would be possible if the gross structure of the chromosomes in living cells could be engineered. Controlled modifications can be engineered by conventional targeting techniques based on homologous recombination. Large but uncontrolled ...

journal_title：Nature genetics

authors： Itzhaki JE,Barnett MA,MacCarthy AB,Buckle VJ,Brown WR,Porter AC

更新日期：1992-12-01 00:00:00

abstract：:Elucidating how and to what extent CpG islands (CGIs) are methylated in germ cells is essential to understand genomic imprinting and epigenetic reprogramming. Here we present, to our knowledge, the first integrated epigenomic analysis of mammalian oocytes, identifying over a thousand CGIs methylated in mature oocytes....

journal_title：Nature genetics

authors： Smallwood SA,Tomizawa S,Krueger F,Ruf N,Carli N,Segonds-Pichon A,Sato S,Hata K,Andrews SR,Kelsey G

更新日期：2011-06-26 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：:The human genome sequence has been finished to very high standards; however, more than 340 gaps remained when the finished genome was published by the International Human Genome Sequencing Consortium in 2004. Using fosmid resources generated from multiple individuals, we targeted gaps in the euchromatic part of the hu...

journal_title：Nature genetics

authors： Bovee D,Zhou Y,Haugen E,Wu Z,Hayden HS,Gillett W,Tuzun E,Cooper GM,Sampas N,Phelps K,Levy R,Morrison VA,Sprague J,Jewett D,Buckley D,Subramaniam S,Chang J,Smith DR,Olson MV,Eichler EE,Kaul R

更新日期：2008-01-01 00:00:00

abstract：:We defined the genetic landscape of balanced chromosomal rearrangements at nucleotide resolution by sequencing 141 breakpoints from cytogenetically interpreted translocations and inversions. We confirm that the recently described phenomenon of 'chromothripsis' (massive chromosomal shattering and reorganization) is not...

journal_title：Nature genetics

authors： Chiang C,Jacobsen JC,Ernst C,Hanscom C,Heilbut A,Blumenthal I,Mills RE,Kirby A,Lindgren AM,Rudiger SR,McLaughlan CJ,Bawden CS,Reid SJ,Faull RL,Snell RG,Hall IM,Shen Y,Ohsumi TK,Borowsky ML,Daly MJ,Lee C,Morton C

更新日期：2012-03-04 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：:The Polycomb repressive complexes PRC1 and PRC2 maintain embryonic stem cell (ESC) pluripotency by silencing lineage-specifying developmental regulator genes. Emerging evidence suggests that Polycomb complexes act through controlling spatial genome organization. We show that PRC1 functions as a master regulator of mou...

journal_title：Nature genetics

authors： Schoenfelder S,Sugar R,Dimond A,Javierre BM,Armstrong H,Mifsud B,Dimitrova E,Matheson L,Tavares-Cadete F,Furlan-Magaril M,Segonds-Pichon A,Jurkowski W,Wingett SW,Tabbada K,Andrews S,Herman B,LeProust E,Osborne CS,Kose

更新日期：2015-10-01 00:00:00

abstract：:X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal disorder characterized by night blindness, decreased visual acuity, myopia, nystagmus and strabismus. Two distinct clinical entities of X-linked CSNB have been proposed. Patients with complete CSNB show moderate to severe myop...

journal_title：Nature genetics

authors： Bech-Hansen NT,Naylor MJ,Maybaum TA,Pearce WG,Koop B,Fishman GA,Mets M,Musarella MA,Boycott KM

更新日期：1998-07-01 00:00:00

abstract：:Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency with neutropenia and lack of natural killer (NK) cells, a bleeding tendency and neurologic abnormalities. Most patients die in childhood. The CHS hallmark is the occurrence of giant i...

journal_title：Nature genetics

authors： Nagle DL,Karim MA,Woolf EA,Holmgren L,Bork P,Misumi DJ,McGrail SH,Dussault BJ Jr,Perou CM,Boissy RE,Duyk GM,Spritz RA,Moore KJ

更新日期：1996-11-01 00:00:00

abstract：:Down syndrome confers a 20-fold increased risk of B cell acute lymphoblastic leukemia (B-ALL), and polysomy 21 is the most frequent somatic aneuploidy among all B-ALLs. Yet the mechanistic links between chromosome 21 triplication and B-ALL remain undefined. Here we show that germline triplication of only 31 genes orth...

journal_title：Nature genetics

authors： Lane AA,Chapuy B,Lin CY,Tivey T,Li H,Townsend EC,van Bodegom D,Day TA,Wu SC,Liu H,Yoda A,Alexe G,Schinzel AC,Sullivan TJ,Malinge S,Taylor JE,Stegmaier K,Jaffe JD,Bustin M,te Kronnie G,Izraeli S,Harris MH,Steve

更新日期：2014-06-01 00:00:00

abstract：:Peripheral myelin protein PMP22 has been suggested to have a role in peripheral nerve myelination and cell proliferation. Defects at the PMP22 locus are associated with peripheral neuropathies such as Charcot-Marie-Tooth disease type 1A. We now demonstrate that mice devoid of Pmp22 are retarded in the onset of myelina...

journal_title：Nature genetics

authors： Adlkofer K,Martini R,Aguzzi A,Zielasek J,Toyka KV,Suter U

更新日期：1995-11-01 00:00:00

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：:Bardet-Biedl syndrome (BBS, MIM 209900) is a heterogeneous autosomal recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism. The disorder is also associated with diabetes mellitus, hypertension, and congenital heart disease. Six dis...

journal_title：Nature genetics

authors： Mykytyn K,Braun T,Carmi R,Haider NB,Searby CC,Shastri M,Beck G,Wright AF,Iannaccone A,Elbedour K,Riise R,Baldi A,Raas-Rothschild A,Gorman SW,Duhl DM,Jacobson SG,Casavant T,Stone EM,Sheffield VC

更新日期：2001-06-01 00:00:00

abstract：:Many primary-tumor subregions have low levels of molecular oxygen, termed hypoxia. Hypoxic tumors are at elevated risk for local failure and distant metastasis, but the molecular hallmarks of tumor hypoxia remain poorly defined. To fill this gap, we quantified hypoxia in 8,006 tumors across 19 tumor types. In ten tumo...

journal_title：Nature genetics

authors： Bhandari V,Hoey C,Liu LY,Lalonde E,Ray J,Livingstone J,Lesurf R,Shiah YJ,Vujcic T,Huang X,Espiritu SMG,Heisler LE,Yousif F,Huang V,Yamaguchi TN,Yao CQ,Sabelnykova VY,Fraser M,Chua MLK,van der Kwast T,Liu SK,Bout

更新日期：2019-02-01 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：:Sudden cardiac death from ventricular fibrillation during acute myocardial infarction is a leading cause of total and cardiovascular mortality. To our knowledge, we here report the first genome-wide association study for this trait, conducted in a set of 972 individuals with a first acute myocardial infarction, 515 of...

journal_title：Nature genetics

authors： Bezzina CR,Pazoki R,Bardai A,Marsman RF,de Jong JSSG,Blom MT,Scicluna BP,Jukema JW,Bindraban NR,Lichtner P,Pfeufer A,Bishopric NH,Roden DM,Meitinger T,Chugh SS,Myerburg RJ,Jouven X,Kääb S,Dekker LRC,Tan HL,Tanck M

更新日期：2010-08-01 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

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：: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：:Congenital disorders of glycosylation (CDG) comprise a rapidly growing group of inherited disorders in which glycosylation of glycoproteins is defective due to mutations in genes required for the assembly of lipid-linked oligosaccharides, their transfer to nascent glycoproteins (CDG-I) or the processing of protein-bou...

journal_title：Nature genetics

authors： Lübke T,Marquardt T,Etzioni A,Hartmann E,von Figura K,Körner C

更新日期：2001-05-01 00:00:00

abstract：:We identified the gene carrying the juvenile spermatogonial depletion mutation (jsd), a recessive spermatogenic defect mapped to mouse chromosome 1 (refs. 1,2). We localized jsd to a 272-kb region and resequenced this area to identify the underlying mutation: a frameshift that severely truncates the predicted protein ...

journal_title：Nature genetics

authors： Bradley J,Baltus A,Skaletsky H,Royce-Tolland M,Dewar K,Page DC

更新日期：2004-08-01 00:00:00

abstract：:For more than 10,000 years, the selection of plant and animal traits that are better tailored for human use has shaped the development of civilizations. During this period, bread wheat (Triticum aestivum) emerged as one of the world's most important crops. We use exome sequencing of a worldwide panel of almost 500 gen...

journal_title：Nature genetics

authors： Pont C,Leroy T,Seidel M,Tondelli A,Duchemin W,Armisen D,Lang D,Bustos-Korts D,Goué N,Balfourier F,Molnár-Láng M,Lage J,Kilian B,Özkan H,Waite D,Dyer S,Letellier T,Alaux M,Wheat and Barley Legacy for Breeding Improveme

更新日期：2019-05-01 00:00:00

abstract：:Polycomb Group (PcG) proteins silence critical developmental genes and modulate cell proliferation. Using the Drosophila melanogaster eye as a model system, we show that cells with mutations in the gene locus (ph) that encodes the PcG protein Polyhomeotic (PH) overproliferate and lose both the ability to differentiate...

journal_title：Nature genetics

authors： Martinez AM,Schuettengruber B,Sakr S,Janic A,Gonzalez C,Cavalli G

更新日期：2009-10-01 00:00:00

abstract：:Characterizing fine-scale variation in human recombination rates is important, both to deepen understanding of the recombination process and to aid the design of disease association studies. Current genetic maps show that rates vary on a megabase scale, but studying finer-scale variation using pedigrees is difficult. ...

journal_title：Nature genetics

authors： Crawford DC,Bhangale T,Li N,Hellenthal G,Rieder MJ,Nickerson DA,Stephens M

更新日期：2004-07-01 00:00:00

abstract：:Consistent but indirect evidence has implicated genetic factors in smoking behavior. We report meta-analyses of several smoking phenotypes within cohorts of the Tobacco and Genetics Consortium (n = 74,053). We also partnered with the European Network of Genetic and Genomic Epidemiology (ENGAGE) and Oxford-GlaxoSmithKl...

journal_title：Nature genetics

authors： Tobacco and Genetics Consortium.

更新日期：2010-05-01 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：:Accumulations of iron are often detected in the brains of people suffering from neurodegenerative diseases. But it is often not known whether such accumulations contribute directly to disease progression. The identification of the genes mutated in two such disorders suggests that errors in iron metabolism do indeed ha...

journal_title：Nature genetics

authors： Rouault TA

更新日期：2001-08-01 00:00:00