Genomic and molecular characterization of esophageal squamous cell carcinoma.

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：:The mRNA for the Duffy blood group antigen, the erythrocyte receptor for the Plasmodium vivax malaria parasite, has recently been cloned and shown to encode a widely expressed chemokine receptor. Here, we show that the Duffy antigen/chemokine receptor gene (DARC) is composed of a single exon and that most Duffy-negati...

journal_title：Nature genetics

authors： Tournamille C,Colin Y,Cartron JP,Le Van Kim C

更新日期：1995-06-01 00:00:00

abstract：:Alcohol misuse is the leading cause of cirrhosis and the second most common indication for liver transplantation in the Western world. We performed a genome-wide association study for alcohol-related cirrhosis in individuals of European descent (712 cases and 1,426 controls) with subsequent validation in two independe...

journal_title：Nature genetics

authors： Buch S,Stickel F,Trépo E,Way M,Herrmann A,Nischalke HD,Brosch M,Rosendahl J,Berg T,Ridinger M,Rietschel M,McQuillin A,Frank J,Kiefer F,Schreiber S,Lieb W,Soyka M,Semmo N,Aigner E,Datz C,Schmelz R,Brückner S,Ze

更新日期：2015-12-01 00:00:00

abstract：:Autosomal dominant polycystic kidney disease (ADPKD) describes a group of at least three genetically distinct disorders with almost identical clinical features that collectively affects 1:1,000 of the population. Affected individuals typically develop large cystic kidneys and approximately one half develop end-stage r...

journal_title：Nature genetics

authors： Qian F,Germino FJ,Cai Y,Zhang X,Somlo S,Germino GG

更新日期：1997-06-01 00:00:00

abstract：:The mammalian homeobox transcription factor CDX2 has key roles in intestinal development and differentiation. Heterozygous Cdx2 mice develop one or two benign hamartomas in the proximal colon, whereas heterozygous Apc(Delta716) mice develop numerous adenomatous polyps, mostly in the small intestine. Here we show that ...

journal_title：Nature genetics

authors： Aoki K,Tamai Y,Horiike S,Oshima M,Taketo MM

更新日期：2003-12-01 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：:We are beginning to elucidate transcriptional regulatory networks on a large scale and to understand some of the structural principles of these networks, but the evolutionary mechanisms that form these networks are still mostly unknown. Here we investigate the role of gene duplication in network evolution. Gene duplic...

journal_title：Nature genetics

authors： Teichmann SA,Babu MM

更新日期：2004-05-01 00:00:00

abstract：:17q11 microdeletions that encompass NF1 cause 5%-10% of cases of neurofibromatosis type 1, and individuals with microdeletions are typically taller than individuals with intragenic NF1 mutations, suggesting that deletion of a neighboring gene might promote human growth. We identified mutations in RNF135, which is with...

journal_title：Nature genetics

authors： Douglas J,Cilliers D,Coleman K,Tatton-Brown K,Barker K,Bernhard B,Burn J,Huson S,Josifova D,Lacombe D,Malik M,Mansour S,Reid E,Cormier-Daire V,Cole T,Childhood Overgrowth Collaboration.,Rahman N

更新日期：2007-08-01 00:00:00

abstract：:We introduce new statistical methods for analyzing genomic data sets that measure many effects in many conditions (for example, gene expression changes under many treatments). These new methods improve on existing methods by allowing for arbitrary correlations in effect sizes among conditions. This flexible approach i...

journal_title：Nature genetics

authors： Urbut SM,Wang G,Carbonetto P,Stephens M

更新日期：2019-01-01 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：:Little is known about the genetic regulation of medulloblastoma dissemination, but metastatic medulloblastoma is highly associated with poor outcome. We obtained expression profiles of 23 primary medulloblastomas clinically designated as either metastatic (M+) or non-metastatic (M0) and identified 85 genes whose expre...

journal_title：Nature genetics

authors： MacDonald TJ,Brown KM,LaFleur B,Peterson K,Lawlor C,Chen Y,Packer RJ,Cogen P,Stephan DA

更新日期：2001-10-01 00:00:00

abstract：:A new study identifies homozygous missense mutations in SGOL1, which encodes a component of the cohesin complex, in a newly described disorder termed Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome. These findings implicate cohesin in the regulation of intrinsic cardiac and intestinal rhythm and further expa...

journal_title：Nature genetics

authors： Krantz ID

更新日期：2014-11-01 00:00:00

abstract：:Stress tolerance of the heart requires high-fidelity metabolic sensing by ATP-sensitive potassium (K(ATP)) channels that adjust membrane potential-dependent functions to match cellular energetic demand. Scanning of genomic DNA from individuals with heart failure and rhythm disturbances due to idiopathic dilated cardio...

journal_title：Nature genetics

authors： Bienengraeber M,Olson TM,Selivanov VA,Kathmann EC,O'Cochlain F,Gao F,Karger AB,Ballew JD,Hodgson DM,Zingman LV,Pang YP,Alekseev AE,Terzic A

更新日期：2004-04-01 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：: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：:Non-insulin-dependent (type II) diabetes mellitus (NIDDM) is characterized by hyperglycaemia and insulin resistance, and affects nearly 5% of the general population. Inherited factors are important for its development, but the genes involved are unknown. We have identified a large pedigree in which NIDDM, in combinati...

journal_title：Nature genetics

authors： van den Ouweland JM,Lemkes HH,Ruitenbeek W,Sandkuijl LA,de Vijlder MF,Struyvenberg PA,van de Kamp JJ,Maassen JA

更新日期：1992-08-01 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：:Co-evolution between host and pathogen is, in principle, a powerful determinant of the biology and genetics of infection and disease. Yet co-evolution has proven difficult to demonstrate rigorously in practice, and co-evolutionary thinking is only just beginning to inform medical or veterinary research in any meaningf...

journal_title：Nature genetics

authors： Woolhouse ME,Webster JP,Domingo E,Charlesworth B,Levin BR

更新日期：2002-12-01 00:00:00

abstract：:We aimed to identify genetic variants associated with heart failure by using a rat model of the human disease. We performed invasive cardiac hemodynamic measurements in F2 crosses between spontaneously hypertensive heart failure (SHHF) rats and reference strains. We combined linkage analyses with genome-wide expressio...

journal_title：Nature genetics

authors： Monti J,Fischer J,Paskas S,Heinig M,Schulz H,Gösele C,Heuser A,Fischer R,Schmidt C,Schirdewan A,Gross V,Hummel O,Maatz H,Patone G,Saar K,Vingron M,Weldon SM,Lindpaintner K,Hammock BD,Rohde K,Dietz R,Cook SA,Sc

更新日期：2008-05-01 00:00:00

abstract：:Here we report an integrated analysis that leverages data from treatment of genetic mouse models of prostate cancer along with clinical data from patients to elucidate new mechanisms of castration resistance. We show that castration counteracts tumor progression in a Pten loss-driven mouse model of prostate cancer thr...

journal_title：Nature genetics

authors： Lunardi A,Ala U,Epping MT,Salmena L,Clohessy JG,Webster KA,Wang G,Mazzucchelli R,Bianconi M,Stack EC,Lis R,Patnaik A,Cantley LC,Bubley G,Cordon-Cardo C,Gerald WL,Montironi R,Signoretti S,Loda M,Nardella C,Pandolfi

更新日期：2013-07-01 00:00:00

abstract：:Using next-generation sequencing of primary acute myeloid leukemia (AML) specimens, we identified to our knowledge the first unifying genetic network common to the two subgroups of KMT2A (MLL)-rearranged leukemia, namely having MLL fusions or partial tandem duplications. Within this network, we experimentally confirme...

journal_title：Nature genetics

authors： Lavallée VP,Baccelli I,Krosl J,Wilhelm B,Barabé F,Gendron P,Boucher G,Lemieux S,Marinier A,Meloche S,Hébert J,Sauvageau G

更新日期：2015-09-01 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：:Epileptic disorders affect about 20-40 million people worldwide, and 40% of these are idiopathic generalized epilepsies (IGEs; ref. 1). Most of the IGEs that are inherited are complex, multigenic diseases. To address basic mechanisms for epilepsies, we have focused on one well-defined class of IGEs with an autosomal-d...

journal_title：Nature genetics

authors： Charlier C,Singh NA,Ryan SG,Lewis TB,Reus BE,Leach RJ,Leppert M

更新日期：1998-01-01 00:00:00

abstract：:Although nearly half of human melanomas harbor oncogenic BRAF(V600E) mutations, the genetic events that cooperate with these mutations to drive melanogenesis are still largely unknown. Here we show that Sleeping Beauty (SB) transposon-mediated mutagenesis drives melanoma progression in Braf(V600E) mutant mice and iden...

journal_title：Nature genetics

authors： Mann MB,Black MA,Jones DJ,Ward JM,Yew CC,Newberg JY,Dupuy AJ,Rust AG,Bosenberg MW,McMahon M,Print CG,Copeland NG,Jenkins NA

更新日期：2015-05-01 00:00:00

abstract：:Nearly all cases of fragile X syndrome result from expansion of a CGG trinucleotide repeat found in the 5' untranslated portion of the FMR1 gene. Methylation of the expanded repeats correlates with down-regulation of transcription of FMR1; thus fragile X syndrome is postulated to be due to a loss of function of the FM...

journal_title：Nature genetics

authors： Lugenbeel KA,Peier AM,Carson NL,Chudley AE,Nelson DL

更新日期：1995-08-01 00:00:00

abstract：:Hypertriglyceridemia is a hallmark of many disorders, including metabolic syndrome, diabetes, atherosclerosis and obesity. A well-known cause is the deficiency of lipoprotein lipase (LPL), a key enzyme in plasma triglyceride hydrolysis. Mice carrying the combined lipase deficiency (cld) mutation show severe hypertrigl...

journal_title：Nature genetics

authors： Péterfy M,Ben-Zeev O,Mao HZ,Weissglas-Volkov D,Aouizerat BE,Pullinger CR,Frost PH,Kane JP,Malloy MJ,Reue K,Pajukanta P,Doolittle MH

更新日期：2007-12-01 00:00:00

abstract：:Cervical carcinoma is now known to be associated with human papillomaviruses (HPV), but the evidence for a link with specific HLA loci is controversial. The role of genetic variation at the HLA class II loci and among HPV types in cervical carcinoma was investigated by PCR DNA amplification and oligonucleotide probe t...

journal_title：Nature genetics

authors： Apple RJ,Erlich HA,Klitz W,Manos MM,Becker TM,Wheeler CM

更新日期：1994-02-01 00:00:00

abstract：:In the past decade, bioinformatics has become an integral part of research and development in the biomedical sciences. Bioinformatics now has an essential role both in deciphering genomic, transcriptomic and proteomic data generated by high-throughput experimental technologies and in organizing information gathered fr...

journal_title：Nature genetics

authors： Kanehisa M,Bork P

更新日期：2003-03-01 00:00:00

abstract：:Type 1 diabetes (T1D) is a common autoimmune disorder that arises from the action of multiple genetic and environmental risk factors. We report the findings of a genome-wide association study of T1D, combined in a meta-analysis with two previously published studies. The total sample set included 7,514 cases and 9,045 ...

journal_title：Nature genetics

authors： Barrett JC,Clayton DG,Concannon P,Akolkar B,Cooper JD,Erlich HA,Julier C,Morahan G,Nerup J,Nierras C,Plagnol V,Pociot F,Schuilenburg H,Smyth DJ,Stevens H,Todd JA,Walker NM,Rich SS,Type 1 Diabetes Genetics Consortium.

更新日期：2009-06-01 00:00:00

abstract：:Protein-protein interactions may impose constraints on both structural and regulatory evolution. Here we show that protein-protein interactions are negatively associated with evolutionary variation in gene expression. Moreover, interacting proteins have similar levels of variation in expression, and their expression l...

journal_title：Nature genetics

authors： Lemos B,Meiklejohn CD,Hartl DL

更新日期：2004-10-01 00:00:00