Distinct and overlapping functions of allelic forms of human mannose binding protein.

abstract：:The genetic basis of most conditions characterized by congenital contractures is largely unknown. Here we show that mutations in the embryonic myosin heavy chain (MYH3) gene cause Freeman-Sheldon syndrome (FSS), one of the most severe multiple congenital contracture (that is, arthrogryposis) syndromes, and nearly one-...

journal_title：Nature genetics

authors： Toydemir RM,Rutherford A,Whitby FG,Jorde LB,Carey JC,Bamshad MJ

更新日期：2006-05-01 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：:Using transgenic mice expressing human cystatin C (encoded by CST3), we show that cystatin C binds soluble amyloid-beta peptide and inhibits cerebral amyloid deposition in amyloid-beta precursor protein (APP) transgenic mice. Cystatin C expression twice that of the endogenous mouse cystatin C was sufficient to substan...

journal_title：Nature genetics

authors： Mi W,Pawlik M,Sastre M,Jung SS,Radvinsky DS,Klein AM,Sommer J,Schmidt SD,Nixon RA,Mathews PM,Levy E

更新日期：2007-12-01 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：:R-spondins are a recently characterized small family of growth factors. Here we show that human R-spondin1 (RSPO1) is the gene disrupted in a recessive syndrome characterized by XX sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin. Our data show, for the first time, th...

journal_title：Nature genetics

authors： Parma P,Radi O,Vidal V,Chaboissier MC,Dellambra E,Valentini S,Guerra L,Schedl A,Camerino G

更新日期：2006-11-01 00:00:00

abstract：:Long noncoding RNAs (lncRNAs) are prevalent genes with frequently precise regulation but mostly unknown functions. Here we demonstrate that lncRNAs guide the organismal DNA damage response. DNA damage activated transcription of the DINO (Damage Induced Noncoding) lncRNA via p53. DINO was required for p53-dependent gen...

journal_title：Nature genetics

authors： Schmitt AM,Garcia JT,Hung T,Flynn RA,Shen Y,Qu K,Payumo AY,Peres-da-Silva A,Broz DK,Baum R,Guo S,Chen JK,Attardi LD,Chang HY

更新日期：2016-11-01 00:00:00

abstract：:Glaucoma is the leading cause of irreversible blindness globally 1 . Despite its gravity, the disease is frequently undiagnosed in the community 2 . Raised intraocular pressure (IOP) is the most important risk factor for primary open-angle glaucoma (POAG)3,4. Here we present a meta-analysis of 139,555 European partici...

journal_title：Nature genetics

authors： Khawaja AP,Cooke Bailey JN,Wareham NJ,Scott RA,Simcoe M,Igo RP Jr,Song YE,Wojciechowski R,Cheng CY,Khaw PT,Pasquale LR,Haines JL,Foster PJ,Wiggs JL,Hammond CJ,Hysi PG,UK Biobank Eye and Vision Consortium.,NEIGHBORHOOD C

更新日期：2018-06-01 00:00:00

abstract：:Animal development is an extremely robust process resulting in stereotyped outcomes. Canalization is a design principle wherein developmental pathways are stabilized to increase phenotypic reproducibility. Recent revelations into microRNA (miRNA) function suggest that miRNAs act as key players in canalizing genetic pr...

journal_title：Nature genetics

authors： Hornstein E,Shomron N

更新日期：2006-06-01 00:00:00

abstract：:To evaluate the shared genetic etiology of type 2 diabetes (T2D) and coronary heart disease (CHD), we conducted a genome-wide, multi-ancestry study of genetic variation for both diseases in up to 265,678 subjects for T2D and 260,365 subjects for CHD. We identify 16 previously unreported loci for T2D and 1 locus for CH...

journal_title：Nature genetics

authors： Zhao W,Rasheed A,Tikkanen E,Lee JJ,Butterworth AS,Howson JMM,Assimes TL,Chowdhury R,Orho-Melander M,Damrauer S,Small A,Asma S,Imamura M,Yamauch T,Chambers JC,Chen P,Sapkota BR,Shah N,Jabeen S,Surendran P,Lu Y,Zh

更新日期：2017-10-01 00:00:00

abstract：:Wilson disease (WD) is an autosomal recessive disorder of copper transport which map to chromosome 13q14.3. In pursuit of the WD gene, we developed yeast artificial chromosome and cosmid contigs, and microsatellite markers which span the WD gene region. Linkage disequilibrium and haplotype analysis of 115 WD families ...

journal_title：Nature genetics

authors： Petrukhin K,Fischer SG,Pirastu M,Tanzi RE,Chernov I,Devoto M,Brzustowicz LM,Cayanis E,Vitale E,Russo JJ

更新日期：1993-12-01 00:00:00

abstract：:Urocortin is a member of the corticotropin-releasing hormone peptide family and is found in many discrete brain regions. The distinct expression pattern of urocortin suggests that it influences such behaviors as feeding, anxiety and auditory processing. To better define the physiological roles of urocortin, we have ge...

journal_title：Nature genetics

authors： Vetter DE,Li C,Zhao L,Contarino A,Liberman MC,Smith GW,Marchuk Y,Koob GF,Heinemann SF,Vale W,Lee KF

更新日期：2002-08-01 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：:Mitotic chromosome segregation is facilitated by the cohesin complex, which maintains physical connections between sister chromatids until anaphase. Meiotic cell division is considerably more complex, as cohesion must be released sequentially to facilitate orderly segregation of chromosomes at both meiosis I and meios...

journal_title：Nature genetics

authors： Hodges CA,Revenkova E,Jessberger R,Hassold TJ,Hunt PA

更新日期：2005-12-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have identified ten loci harboring common variants that influence risk of developing colorectal cancer (CRC). To enhance the power to identify additional CRC risk loci, we conducted a meta-analysis of three GWAS from the UK which included a total of 3,334 affected individuals (ca...

journal_title：Nature genetics

authors： Houlston RS,Cheadle J,Dobbins SE,Tenesa A,Jones AM,Howarth K,Spain SL,Broderick P,Domingo E,Farrington S,Prendergast JG,Pittman AM,Theodoratou E,Smith CG,Olver B,Walther A,Barnetson RA,Churchman M,Jaeger EE,Penegar

更新日期：2010-11-01 00:00:00

abstract：:Patients with a combined immunodeficiency characterized by normal numbers but impaired function of T and B cells had a homozygous p.Tyr20His substitution in transferrin receptor 1 (TfR1), encoded by TFRC. The substitution disrupts the TfR1 internalization motif, resulting in defective receptor endocytosis and markedly...

journal_title：Nature genetics

authors： Jabara HH,Boyden SE,Chou J,Ramesh N,Massaad MJ,Benson H,Bainter W,Fraulino D,Rahimov F,Sieff C,Liu ZJ,Alshemmari SH,Al-Ramadi BK,Al-Dhekri H,Arnaout R,Abu-Shukair M,Vatsayan A,Silver E,Ahuja S,Davies EG,Sola-Visne

更新日期：2016-01-01 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

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：:PDGF-C is a member of the platelet-derived growth factor (PDGF) family, which signals through PDGF receptor (PDGFR) alphaalpha and alphabeta dimers. Here we show that Pdgfc(-/-) mice die in the perinatal period owing to feeding and respiratory difficulties associated with a complete cleft of the secondary palate. This...

journal_title：Nature genetics

authors： Ding H,Wu X,Boström H,Kim I,Wong N,Tsoi B,O'Rourke M,Koh GY,Soriano P,Betsholtz C,Hart TC,Marazita ML,Field LL,Tam PP,Nagy A

更新日期：2004-10-01 00:00:00

abstract：:Acquired mutations in the hematopoietic transcription factor GATA binding protein-1 (GATA1) are found in megakaryoblasts from nearly all individuals with Down syndrome with transient myeloproliferative disorder (TMD, also called transient leukemia) and the related acute megakaryoblastic leukemia (DS-AMKL, also called ...

journal_title：Nature genetics

authors： Li Z,Godinho FJ,Klusmann JH,Garriga-Canut M,Yu C,Orkin SH

更新日期：2005-06-01 00:00:00

abstract：:The most characteristic features of bipolar affective disorder (manic-depressive illness) are episodes of mania (bipolar I, BPI) or hypomania (bipolar II, BPII) interspersed with periods of depression. Manic-depressive illness afflicts about one percent of the population, and if untreated, is associated with an approx...

journal_title：Nature genetics

authors： Ginns EI,Ott J,Egeland JA,Allen CR,Fann CS,Pauls DL,Weissenbachoff J,Carulli JP,Falls KM,Keith TP,Paul SM

更新日期：1996-04-01 00:00:00

abstract：:The L1 retrotransposon has had an immense impact on the size and structure of the human genome through a variety of mechanisms, including insertional mutagenesis. To study retrotransposition in a living organism, we created a mouse model of human L1 retrotransposition. Here we show that L1 elements can retrotranspose ...

journal_title：Nature genetics

authors： Ostertag EM,DeBerardinis RJ,Goodier JL,Zhang Y,Yang N,Gerton GL,Kazazian HH Jr

更新日期：2002-12-01 00:00:00

abstract：:In metastatic cancer, the degree of heterogeneity of the tumor microenvironment (TME) and its molecular underpinnings remain largely unstudied. To characterize the tumor-immune interface at baseline and during neoadjuvant chemotherapy (NACT) in high-grade serous ovarian cancer (HGSOC), we performed immunogenomic analy...

journal_title：Nature genetics

authors： Jiménez-Sánchez A,Cybulska P,Mager KL,Koplev S,Cast O,Couturier DL,Memon D,Selenica P,Nikolovski I,Mazaheri Y,Bykov Y,Geyer FC,Macintyre G,Gavarró LM,Drews RM,Gill MB,Papanastasiou AD,Sosa RE,Soslow RA,Walther T,S

更新日期：2020-06-01 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：:A new study has identified rare de novo mutations in SHANK2 in individuals with autism and/or mental retardation. SHANK2 encodes a scaffolding protein present in excitatory synapses. This finding sheds some light on the pathophysiology of social and cognitive disability. ...

journal_title：Nature genetics

authors： State MW

更新日期：2010-06-01 00:00:00

abstract：:Haematopoietic development is regulated by nuclear protein complexes that coordinate lineage-specific patterns of gene expression. Targeted mutagenesis in embryonic stem cells and mice has revealed roles for the X-linked gene Gata1 in erythrocyte and megakaryocyte differentiation. GATA-1 is the founding member of a fa...

journal_title：Nature genetics

authors： Nichols KE,Crispino JD,Poncz M,White JG,Orkin SH,Maris JM,Weiss MJ

更新日期：2000-03-01 00:00:00

abstract：:Gains and losses in DNA methylation are prominent features of mammalian cell types. To gain insight into the mechanisms that promote shifts in DNA methylation and contribute to changes in cell fate, including malignant transformation, we performed genome-wide mapping of 5-methylcytosine and 5-hydroxymethylcytosine in ...

journal_title：Nature genetics

authors： Jeong M,Sun D,Luo M,Huang Y,Challen GA,Rodriguez B,Zhang X,Chavez L,Wang H,Hannah R,Kim SB,Yang L,Ko M,Chen R,Göttgens B,Lee JS,Gunaratne P,Godley LA,Darlington GJ,Rao A,Li W,Goodell MA

更新日期：2014-01-01 00:00:00

abstract：:Recent research has uncovered an important role for de novo variation in neurodevelopmental disorders. Using aggregated data from 9,246 families with autism spectrum disorder, intellectual disability, or developmental delay, we found that ∼1/3 of de novo variants are independently present as standing variation in the ...

journal_title：Nature genetics

authors： Kosmicki JA,Samocha KE,Howrigan DP,Sanders SJ,Slowikowski K,Lek M,Karczewski KJ,Cutler DJ,Devlin B,Roeder K,Buxbaum JD,Neale BM,MacArthur DG,Wall DP,Robinson EB,Daly MJ

更新日期：2017-04-01 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：: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 candidate gene for Branchio-Oto-Renal (BOR) syndrome was identified at chromosome 8q13.3 by positional cloning and shown to underlie the disease. This gene is a human homologue of the Drosophila eyes absent gene (eya), and was therefore called EYA1. A highly conserved 271-amino acid C-terminal region was also found ...

journal_title：Nature genetics

authors： Abdelhak S,Kalatzis V,Heilig R,Compain S,Samson D,Vincent C,Weil D,Cruaud C,Sahly I,Leibovici M,Bitner-Glindzicz M,Francis M,Lacombe D,Vigneron J,Charachon R,Boven K,Bedbeder P,Van Regemorter N,Weissenbach J,Petit C

更新日期：1997-02-01 00:00:00