R-spondin1 is essential in sex determination, skin differentiation and malignancy.

abstract：:Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] famil...

journal_title：Nature genetics

authors： Autism Genome Project Consortium.,Szatmari P,Paterson AD,Zwaigenbaum L,Roberts W,Brian J,Liu XQ,Vincent JB,Skaug JL,Thompson AP,Senman L,Feuk L,Qian C,Bryson SE,Jones MB,Marshall CR,Scherer SW,Vieland VJ,Bartlett C,

更新日期：2007-03-01 00:00:00

abstract：:Metformin is the most commonly used pharmacological therapy for type 2 diabetes. We report a genome-wide association study for glycemic response to metformin in 1,024 Scottish individuals with type 2 diabetes with replication in two cohorts including 1,783 Scottish individuals and 1,113 individuals from the UK Prospec...

journal_title：Nature genetics

authors： GoDARTS and UKPDS Diabetes Pharmacogenetics Study Group.,Wellcome Trust Case Control Consortium 2.,Zhou K,Bellenguez C,Spencer CC,Bennett AJ,Coleman RL,Tavendale R,Hawley SA,Donnelly LA,Schofield C,Groves CJ,Burch L,Carr F,St

更新日期：2011-02-01 00:00:00

abstract：:Structural rearrangements have long been recognized as an important source of genetic variation, with implications in phenotypic diversity and disease, yet their detailed evolutionary dynamics remain elusive. Here we use long-read sequencing to generate end-to-end genome assemblies for 12 strains representing major su...

journal_title：Nature genetics

authors： Yue JX,Li J,Aigrain L,Hallin J,Persson K,Oliver K,Bergström A,Coupland P,Warringer J,Lagomarsino MC,Fischer G,Durbin R,Liti G

更新日期：2017-06-01 00:00:00

abstract：:Sézary syndrome is a rare leukemic form of cutaneous T cell lymphoma characterized by generalized redness, scaling, itching and increased numbers of circulating atypical T lymphocytes. It is rarely curable, with poor prognosis. Here we present a multiplatform genomic analysis of 37 patients with Sézary syndrome that i...

journal_title：Nature genetics

authors： Wang L,Ni X,Covington KR,Yang BY,Shiu J,Zhang X,Xi L,Meng Q,Langridge T,Drummond J,Donehower LA,Doddapaneni H,Muzny DM,Gibbs RA,Wheeler DA,Duvic M

更新日期：2015-12-01 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：:N6-methyldeoxyadenine (6mA) is a noncanonical DNA base modification present at low levels in plant and animal genomes, but its prevalence and association with genome function in other eukaryotic lineages remains poorly understood. Here we report that abundant 6mA is associated with transcriptionally active genes in ea...

journal_title：Nature genetics

authors： Mondo SJ,Dannebaum RO,Kuo RC,Louie KB,Bewick AJ,LaButti K,Haridas S,Kuo A,Salamov A,Ahrendt SR,Lau R,Bowen BP,Lipzen A,Sullivan W,Andreopoulos BB,Clum A,Lindquist E,Daum C,Northen TR,Kunde-Ramamoorthy G,Schmitz RJ

更新日期：2017-06-01 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：:Advances in sequencing technologies have enabled the identification of mutations acquired by bacterial pathogens during infection. However, it remains unclear whether adaptive mutations fix in the population or lead to pathogen diversification within the patient. Here we study the genotypic diversity of Burkholderia d...

journal_title：Nature genetics

authors： Lieberman TD,Flett KB,Yelin I,Martin TR,McAdam AJ,Priebe GP,Kishony R

更新日期：2014-01-01 00:00:00

abstract：:Charcot-Marie-Tooth disease type 1B (CMT1B) is genetically linked to chromosome 1q21-23. The major peripheral myelin protein gene, P0, has been cloned and localized to the same chromosomal region. P0 is a 28 kDa glycoprotein involved in the compaction of the multilamellar myelin sheet and accounts for more than half o...

journal_title：Nature genetics

authors： Kulkens T,Bolhuis PA,Wolterman RA,Kemp S,te Nijenhuis S,Valentijn LJ,Hensels GW,Jennekens FG,de Visser M,Hoogendijk JE

更新日期：1993-09-01 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：:In the version of this article initially published, affiliation 38 incorrectly read "ICNU-Nephrology and Urology Department, Barcelona, Spain"; "Renal Division, Hospital Clinic, IDIBAPS, University of Barcelona, Barcelona, Spain" is the correct affiliation. The error has been corrected in the HTML and PDF versions of ...

journal_title：Nature genetics

authors： Verbitsky M,Westland R,Perez A,Kiryluk K,Liu Q,Krithivasan P,Mitrotti A,Fasel DA,Batourina E,Sampson MG,Bodria M,Werth M,Kao C,Martino J,Capone VP,Vivante A,Shril S,Kil BH,Marasa M,Zhang JY,Na YJ,Lim TY,Ahram

更新日期：2019-04-01 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：: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：:The mammalian TET enzymes catalyze DNA demethylation. While they have been intensely studied as major epigenetic regulators, little is known about their physiological roles and the extent of functional redundancy following embryo implantation. Here we define non-redundant roles for TET1 at an early postimplantation st...

journal_title：Nature genetics

authors： Khoueiry R,Sohni A,Thienpont B,Luo X,Velde JV,Bartoccetti M,Boeckx B,Zwijsen A,Rao A,Lambrechts D,Koh KP

更新日期：2017-07-01 00:00:00

abstract：:Small nucleolar RNAs (snoRNAs) are conserved noncoding RNAs best studied as ribonucleoprotein (RNP) guides in RNA modification. To explore their role in cancer, we compared 5,473 tumor-normal genome pairs to identify snoRNAs with frequent copy number loss. The SNORD50A-SNORD50B snoRNA locus was deleted in 10-40% of 12...

journal_title：Nature genetics

authors： Siprashvili Z,Webster DE,Johnston D,Shenoy RM,Ungewickell AJ,Bhaduri A,Flockhart R,Zarnegar BJ,Che Y,Meschi F,Puglisi JD,Khavari PA

更新日期：2016-01-01 00:00:00

abstract：:Congenital heart malformation (CHM) is the most common form of congenital human birth anomaly and is the leading cause of infant mortality. Although some causative genes have been identified, little progress has been made in identifying genes in which low-penetrance susceptibility variants occur in the majority of spo...

journal_title：Nature genetics

authors： Hu Z,Shi Y,Mo X,Xu J,Zhao B,Lin Y,Yang S,Xu Z,Dai J,Pan S,Da M,Wang X,Qian B,Wen Y,Wen J,Xing J,Guo X,Xia Y,Ma H,Jin G,Yu S,Liu J,Zhou Z,Wang X,Chen Y,Sha J,Shen H

更新日期：2013-07-01 00:00:00

abstract：:Domestication of cereal crops, such as maize, wheat and rice, had a profound influence on agriculture and the establishment of human civilizations. One major improvement was an increase in seed number per inflorescence, which enhanced yield and simplified harvesting and storage. The ancestor of maize, teosinte, makes ...

journal_title：Nature genetics

authors： Bommert P,Nagasawa NS,Jackson D

更新日期：2013-03-01 00:00:00

abstract：:Only a few mutations in regulatory elements that cause human disease have been identified thus far. A new report identifies cis-regulatory mutations that abolish the activity of a developmental enhancer, thereby causing pancreatic agenesis. ...

journal_title：Nature genetics

authors： Gordon CT,Lyonnet S

更新日期：2014-01-01 00:00:00

abstract：:Gene therapy strategies designed to combat haemophilia B, caused by defects in clotting factor IX, have so far concentrated on ex vivo approaches. We have now evaluated adenoviral vector-mediated expression of human factor IX in vivo. Injection of the vector Av1H9B, which encodes human factor IX cDNA, into the tail ve...

journal_title：Nature genetics

authors： Smith TA,Mehaffey MG,Kayda DB,Saunders JM,Yei S,Trapnell BC,McClelland A,Kaleko M

更新日期：1993-12-01 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：:Differences in three-dimensional (3D) chromatin architecture can influence the integrity of topologically associating domains (TADs) and rewire specific enhancer-promoter interactions, impacting gene expression and leading to human disease. Here we investigate the 3D chromatin architecture in T cell acute lymphoblasti...

journal_title：Nature genetics

authors： Kloetgen A,Thandapani P,Ntziachristos P,Ghebrechristos Y,Nomikou S,Lazaris C,Chen X,Hu H,Bakogianni S,Wang J,Fu Y,Boccalatte F,Zhong H,Paietta E,Trimarchi T,Zhu Y,Van Vlierberghe P,Inghirami GG,Lionnet T,Aifantis I

更新日期：2020-04-01 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：: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：:To further understanding of the genetic basis of type 2 diabetes (T2D) susceptibility, we aggregated published meta-analyses of genome-wide association studies (GWAS), including 26,488 cases and 83,964 controls of European, east Asian, south Asian and Mexican and Mexican American ancestry. We observed a significant ex...

journal_title：Nature genetics

authors： DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium.,Asian Genetic Epidemiology Network Type 2 Diabetes (AGEN-T2D) Consortium.,South Asian Type 2 Diabetes (SAT2D) Consortium.,Mexican American Type 2 Diabetes (MAT2D) Consortium.,

更新日期：2014-03-01 00:00:00

abstract：:MASA syndrome is a recessive X-linked disorder characterized by mental retardation, adducted thumbs, shuffling gait, aphasia and, in some cases, hydrocephalus. Since it has been shown that X-linked hydrocephalus can be caused by mutations in L1CAM, a neuronal cell adhesion molecule, we performed an L1CAM mutation anal...

journal_title：Nature genetics

authors： Vits L,Van Camp G,Coucke P,Fransen E,De Boulle K,Reyniers E,Korn B,Poustka A,Wilson G,Schrander-Stumpel C

更新日期：1994-07-01 00:00:00

abstract：:Beare-Stevenson cutis gyrata syndrome (MIM 123790) is an autosomal dominant condition characterized by the furrowed skin disorder of cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities and early death. Many of these features are char...

journal_title：Nature genetics

authors： Przylepa KA,Paznekas W,Zhang M,Golabi M,Bias W,Bamshad MJ,Carey JC,Hall BD,Stevenson R,Orlow S,Cohen MM Jr,Jabs EW

更新日期：1996-08-01 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：:Genome-wide association scans of complex multipartite traits like the human face typically use preselected phenotypic measures. Here we report a data-driven approach to phenotyping facial shape at multiple levels of organization, allowing for an open-ended description of facial variation while preserving statistical p...

journal_title：Nature genetics

authors： Claes P,Roosenboom J,White JD,Swigut T,Sero D,Li J,Lee MK,Zaidi A,Mattern BC,Liebowitz C,Pearson L,González T,Leslie EJ,Carlson JC,Orlova E,Suetens P,Vandermeulen D,Feingold E,Marazita ML,Shaffer JR,Wysocka J,Sh

更新日期：2018-03-01 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：: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