Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice.

abstract：:Genome-wide association studies with SNP markers are expected to allow identification of genes that underlie complex disorders. Hundreds of thousands of SNP markers will be required for comprehensive genome-wide association studies. The development of microarray-based methods for SNP genotyping on this scale remains a...

journal_title：Nature genetics

authors： Syvänen AC

更新日期：2005-06-01 00:00:00

abstract：:Phenotypic differences between closely related species are thought to arise primarily from changes in gene expression due to mutations in cis-regulatory sequences (enhancers). However, it has remained unclear how frequently mutations alter enhancer activity or create functional enhancers de novo. Here we use STARR-seq...

journal_title：Nature genetics

authors： Arnold CD,Gerlach D,Spies D,Matts JA,Sytnikova YA,Pagani M,Lau NC,Stark A

更新日期：2014-07-01 00:00:00

abstract：:Family, twin and adoption studies provide evidence for a substantial genetic component underlying individual differences in general intelligence, specific cognitive abilities and susceptibility to psychopathologies related to fear-inducing events. Contextual fear conditioning, which is highly conserved across species,...

journal_title：Nature genetics

authors： Wehner JM,Radcliffe RA,Rosmann ST,Christensen SC,Rasmussen DL,Fulker DW,Wiles M

更新日期：1997-11-01 00:00:00

abstract：:Most errors that arise during DNA replication can be corrected by DNA polymerase proofreading or by post-replication mismatch repair (MMR). Inactivation of both mutation-avoidance systems results in extremely high mutability that can lead to error catastrophe. High mutability and the likelihood of cancer can be caused...

journal_title：Nature genetics

authors： Jin YH,Clark AB,Slebos RJ,Al-Refai H,Taylor JA,Kunkel TA,Resnick MA,Gordenin DA

更新日期：2003-07-01 00:00:00

abstract：:Schwartz-Jampel syndrome (SJS1) is a rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal dysplasia, resulting in reduced stature, kyphoscoliosis, bowing of the diaphyses and irregular epiphyses. Electromyographic investigations reveal repetitive m...

journal_title：Nature genetics

authors： Nicole S,Davoine CS,Topaloglu H,Cattolico L,Barral D,Beighton P,Hamida CB,Hammouda H,Cruaud C,White PS,Samson D,Urtizberea JA,Lehmann-Horn F,Weissenbach J,Hentati F,Fontaine B

更新日期：2000-12-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have identified thousands of genetic variants associated with human complex traits. However, the genes or functional DNA elements through which these variants exert their effects on the traits are often unknown. We propose a method (called SMR) that integrates summary-level data ...

journal_title：Nature genetics

authors： Zhu Z,Zhang F,Hu H,Bakshi A,Robinson MR,Powell JE,Montgomery GW,Goddard ME,Wray NR,Visscher PM,Yang J

更新日期：2016-05-01 00:00:00

abstract：:Deletions on human chromosome 8p22-23 in prostate cancer cells and linkage studies in families affected with hereditary prostate cancer (HPC) have implicated this region in the development of prostate cancer. The macrophage scavenger receptor 1 gene (MSR1, also known as SR-A) is located at 8p22 and functions in severa...

journal_title：Nature genetics

authors： Xu J,Zheng SL,Komiya A,Mychaleckyj JC,Isaacs SD,Hu JJ,Sterling D,Lange EM,Hawkins GA,Turner A,Ewing CM,Faith DA,Johnson JR,Suzuki H,Bujnovszky P,Wiley KE,DeMarzo AM,Bova GS,Chang B,Hall MC,McCullough DL,Partin A

更新日期：2002-10-01 00:00:00

abstract：: ...

journal_title：Nature genetics

authors： Sternberg PW

更新日期：2019-01-01 00:00:00

abstract：:Human mannose binding protein (MBP) is a C-type serum lectin involved in first-line host defense against a variety of bacterial, fungal and viral pathogens. Recently an association was found between low levels of serum MBP and an increased frequency of recurrent infections in infants. A particular genotype, in which g...

journal_title：Nature genetics

authors： Super M,Gillies SD,Foley S,Sastry K,Schweinle JE,Silverman VJ,Ezekowitz RA

更新日期：1992-09-01 00:00:00

abstract：:Esophageal adenocarcinoma is a cancer with rising incidence and poor survival. Most such cancers arise in a specialized intestinal metaplastic epithelium, which is diagnostic of Barrett's esophagus. In a genome-wide association study, we compared esophageal adenocarcinoma cases (n = 2,390) and individuals with precanc...

journal_title：Nature genetics

authors： Levine DM,Ek WE,Zhang R,Liu X,Onstad L,Sather C,Lao-Sirieix P,Gammon MD,Corley DA,Shaheen NJ,Bird NC,Hardie LJ,Murray LJ,Reid BJ,Chow WH,Risch HA,Nyrén O,Ye W,Liu G,Romero Y,Bernstein L,Wu AH,Casson AG,Chano

更新日期：2013-12-01 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：:Linkage disequilibrium mapping in isolated populations provides a powerful tool for fine structure localization of disease genes. Here, Luria and Delbrück's classical methods for analysing bacterial cultures are adapted to the study of human isolated founder populations in order to estimate (i) the recombination fract...

journal_title：Nature genetics

authors： Hästbacka J,de la Chapelle A,Kaitila I,Sistonen P,Weaver A,Lander E

更新日期：1992-11-01 00:00:00

abstract：:Paired box (PAX) genes play a critical role in human development and disease. The PAX2 gene is expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system. We have conducted a mutational analysis of PAX2 in a family with optic nerve colobomas, renal hypoplasia, mild proteinuria and vesicour...

journal_title：Nature genetics

authors： Sanyanusin P,Schimmenti LA,McNoe LA,Ward TA,Pierpont ME,Sullivan MJ,Dobyns WB,Eccles MR

更新日期：1995-04-01 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：:Cell division is controlled by a series of positive and negative regulators which act at sequential points throughout the cell cycle. Disturbance of these checks could contribute to cancer by allowing excessive cell proliferation. The point in G1 at which cells irrevocably commit to DNA synthesis is controlled by prot...

journal_title：Nature genetics

authors： Ranade K,Hussussian CJ,Sikorski RS,Varmus HE,Goldstein AM,Tucker MA,Serrano M,Hannon GJ,Beach D,Dracopoli NC

更新日期：1995-05-01 00:00:00

abstract：:Obesity results from the interaction of genetic and environmental factors. To search for sequence variants that affect variation in two common measures of obesity, weight and body mass index (BMI), both of which are highly heritable, we performed a genome-wide association (GWA) study with 305,846 SNPs typed in 25,344 ...

journal_title：Nature genetics

authors： Thorleifsson G,Walters GB,Gudbjartsson DF,Steinthorsdottir V,Sulem P,Helgadottir A,Styrkarsdottir U,Gretarsdottir S,Thorlacius S,Jonsdottir I,Jonsdottir T,Olafsdottir EJ,Olafsdottir GH,Jonsson T,Jonsson F,Borch-Johnsen K,

更新日期：2009-01-01 00:00:00

abstract：:We address the challenge of detecting the contribution of noncoding mutations to disease with a deep-learning-based framework that predicts the specific regulatory effects and the deleterious impact of genetic variants. Applying this framework to 1,790 autism spectrum disorder (ASD) simplex families reveals a role in ...

journal_title：Nature genetics

authors： Zhou J,Park CY,Theesfeld CL,Wong AK,Yuan Y,Scheckel C,Fak JJ,Funk J,Yao K,Tajima Y,Packer A,Darnell RB,Troyanskaya OG

更新日期：2019-06-01 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：:Focal dermal hypoplasia is an X-linked dominant disorder characterized by patchy hypoplastic skin and digital, ocular and dental malformations. We used array comparative genomic hybridization to identify a 219-kb deletion in Xp11.23 in two affected females. We sequenced genes in this region and found heterozygous and ...

journal_title：Nature genetics

authors： Wang X,Reid Sutton V,Omar Peraza-Llanes J,Yu Z,Rosetta R,Kou YC,Eble TN,Patel A,Thaller C,Fang P,Van den Veyver IB

更新日期：2007-07-01 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：:Reduced lung function predicts mortality and is key to the diagnosis of chronic obstructive pulmonary disease (COPD). In a genome-wide association study in 400,102 individuals of European ancestry, we define 279 lung function signals, 139 of which are new. In combination, these variants strongly predict COPD in indepe...

journal_title：Nature genetics

authors： Shrine N,Guyatt AL,Erzurumluoglu AM,Jackson VE,Hobbs BD,Melbourne CA,Batini C,Fawcett KA,Song K,Sakornsakolpat P,Li X,Boxall R,Reeve NF,Obeidat M,Zhao JH,Wielscher M,Weiss S,Kentistou KA,Cook JP,Sun BB,Zhou J,Hu

更新日期：2019-03-01 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：: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：:In the HTML version of this article initially published, the name of author Diletta Di Mitri was miscoded in the XML such that Di was included as part of the given name instead of the family name. The error has been corrected in the HTML version of the article. ...

journal_title：Nature genetics

authors： Chen J,Guccini I,Di Mitri D,Brina D,Revandkar A,Sarti M,Pasquini E,Alajati A,Pinton S,Losa M,Civenni G,Catapano CV,Sgrignani J,Cavalli A,D'Antuono R,Asara JM,Morandi A,Chiarugi P,Crotti S,Agostini M,Montopoli M,

更新日期：2018-09-01 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：:In mouse and man, deletions of specific regions of the Y chromosome have been linked to early failure of spermatogenesis and consequent sterility; the Y chromosomal gene(s) with this essential early role in spermatogenesis have not been identified. The partial deletion of the mouse Y short arm (the Sxrb deletion) that...

journal_title：Nature genetics

authors： Mazeyrat S,Saut N,Grigoriev V,Mahadevaiah SK,Ojarikre OA,Rattigan A,Bishop C,Eicher EM,Mitchell MJ,Burgoyne PS

更新日期：2001-09-01 00:00:00

abstract：:Spinocerebellar ataxia type I (SCAI) is an autosomal dominant neurodegenerative disease caused by the expansion of a CAG trinucleotide repeat on chromosome 6p. Normal alleles range from 19-36 repeats while SCA1 alleles contain 43-81 repeats. We now show that in 63% of paternal transmissions, an increase in repeat numb...

journal_title：Nature genetics

authors： Chung MY,Ranum LP,Duvick LA,Servadio A,Zoghbi HY,Orr HT

更新日期：1993-11-01 00:00:00

abstract：:We report that mutation in the gene for plectin, a cytoskeleton-membrane anchorage protein, is a cause of autosomal recessive muscular dystrophy associated with skin blistering (epidermolysis bullosa simplex). The evidence comes from absence of plectin by antibody staining in affected individuals from four families, s...

journal_title：Nature genetics

authors： Smith FJ,Eady RA,Leigh IM,McMillan JR,Rugg EL,Kelsell DP,Bryant SP,Spurr NK,Geddes JF,Kirtschig G,Milana G,de Bono AG,Owaribe K,Wiche G,Pulkkinen L,Uitto J,McLean WH,Lane EB

更新日期：1996-08-01 00:00:00

abstract：:Although ribosomes are ubiquitous and essential for life, recent data indicate that monogenic causes of ribosomal dysfunction can confer a remarkable degree of specificity in terms of human disease phenotype. Box C/D small nucleolar RNAs (snoRNAs) are evolutionarily conserved non-protein-coding RNAs involved in riboso...

journal_title：Nature genetics

authors： Jenkinson EM,Rodero MP,Kasher PR,Uggenti C,Oojageer A,Goosey LC,Rose Y,Kershaw CJ,Urquhart JE,Williams SG,Bhaskar SS,O'Sullivan J,Baerlocher GM,Haubitz M,Aubert G,Barañano KW,Barnicoat AJ,Battini R,Berger A,Blair EM

更新日期：2016-10-01 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