Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.

abstract：:Age-related hearing loss (AHL) in common inbred mouse strains is a genetically complex quantitative trait. We found a synonymous single-nucleotide polymorphism in exon 7 of Cdh23 that shows significant association with AHL and the deafness modifier mdfw (modifer of deafwaddler). The hypomorphic Cdh23(753A) allele caus...

journal_title：Nature genetics

authors： Noben-Trauth K,Zheng QY,Johnson KR

更新日期：2003-09-01 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：:Altered growth and function of synoviocytes, the intimal cells which line joint cavities and tendon sheaths, occur in a number of skeletal diseases. Hyperplasia of synoviocytes is found in both rheumatoid arthritis and osteoarthritis, despite differences in the underlying aetiologies of the two disorders. We have stud...

journal_title：Nature genetics

authors： Marcelino J,Carpten JD,Suwairi WM,Gutierrez OM,Schwartz S,Robbins C,Sood R,Makalowska I,Baxevanis A,Johnstone B,Laxer RM,Zemel L,Kim CA,Herd JK,Ihle J,Williams C,Johnson M,Raman V,Alonso LG,Brunoni D,Gerstein A,

更新日期：1999-11-01 00:00:00

abstract：:Mitochondrial DNA (mtDNA)-depletion syndromes (MDS; OMIM 251880) are phenotypically heterogeneous, autosomal-recessive disorders characterized by tissue-specific reduction in mtDNA copy number. Affected individuals with the hepatocerebral form of MDS have early progressive liver failure and neurological abnormalities,...

journal_title：Nature genetics

authors： Mandel H,Szargel R,Labay V,Elpeleg O,Saada A,Shalata A,Anbinder Y,Berkowitz D,Hartman C,Barak M,Eriksson S,Cohen N

更新日期：2001-11-01 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：: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：:A genome-wide study of fasting insulin, HDL cholesterol and triglycerides, designed to depict insulin resistance, identified 53 independent loci associated with a limited capacity to store fat in a healthy way. The increased power of this multitrait approach provides insights into an otherwise difficult-to-grasp pheno...

journal_title：Nature genetics

authors： Heid IM,Winkler TW

更新日期：2016-12-28 00:00:00

abstract：:Mutations involving gains of glycosylation have been considered rare, and the pathogenic role of the new carbohydrate chains has never been formally established. We identified three children with mendelian susceptibility to mycobacterial disease who were homozygous with respect to a missense mutation in IFNGR2 creatin...

journal_title：Nature genetics

authors： Vogt G,Chapgier A,Yang K,Chuzhanova N,Feinberg J,Fieschi C,Boisson-Dupuis S,Alcais A,Filipe-Santos O,Bustamante J,de Beaucoudrey L,Al-Mohsen I,Al-Hajjar S,Al-Ghonaium A,Adimi P,Mirsaeidi M,Khalilzadeh S,Rosenzweig S,d

更新日期：2005-07-01 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：: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

abstract：:All molybdoenzymes other than nitrogenase require molybdopterin as a metal-binding cofactor. Several genes necessary for the synthesis of the molybdenum cofactor (MoCo) have been characterized in bacteria and plants. The proteins encoded by the Escherichia coli genes moaA and moaC catalyse the first steps in MoCo synt...

journal_title：Nature genetics

authors： Reiss J,Cohen N,Dorche C,Mandel H,Mendel RR,Stallmeyer B,Zabot MT,Dierks T

更新日期：1998-09-01 00:00:00

abstract：:An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...

journal_title：Nature genetics

authors： Henssen AG,Koche R,Zhuang J,Jiang E,Reed C,Eisenberg A,Still E,MacArthur IC,Rodríguez-Fos E,Gonzalez S,Puiggròs M,Blackford AN,Mason CE,de Stanchina E,Gönen M,Emde AK,Shah M,Arora K,Reeves C,Socci ND,Perlman E,A

更新日期：2020-11-01 00:00:00

abstract：:Here we report the discovery of oncogenic mutations in the Hedgehog and mitogen-activated protein kinase (MAPK) pathways in over 80% of ameloblastomas, locally destructive odontogenic tumors of the jaw, by genomic analysis of archival material. Mutations in SMO (encoding Smoothened, SMO) are common in ameloblastomas o...

journal_title：Nature genetics

authors： Sweeney RT,McClary AC,Myers BR,Biscocho J,Neahring L,Kwei KA,Qu K,Gong X,Ng T,Jones CD,Varma S,Odegaard JI,Sugiyama T,Koyota S,Rubin BP,Troxell ML,Pelham RJ,Zehnder JL,Beachy PA,Pollack JR,West RB

更新日期：2014-07-01 00:00:00

abstract：:We report germline missense mutations in ETV6 segregating with the dominant transmission of thrombocytopenia and hematologic malignancy in three unrelated kindreds, defining a new hereditary syndrome featuring thrombocytopenia with susceptibility to diverse hematologic neoplasms. Two variants, p.Arg369Gln and p.Arg399...

journal_title：Nature genetics

authors： Zhang MY,Churpek JE,Keel SB,Walsh T,Lee MK,Loeb KR,Gulsuner S,Pritchard CC,Sanchez-Bonilla M,Delrow JJ,Basom RS,Forouhar M,Gyurkocza B,Schwartz BS,Neistadt B,Marquez R,Mariani CJ,Coats SA,Hofmann I,Lindsley RC,Wil

更新日期：2015-02-01 00:00:00

abstract：:microRNAs (miRNAs) function as genetic rheostats to control gene output. Based on their role as modulators, it has been postulated that miRNAs canalize development and provide genetic robustness. Here, we uncover a previously unidentified regulatory layer of chemokine signaling by miRNAs that confers genetic robustnes...

journal_title：Nature genetics

authors： Staton AA,Knaut H,Giraldez AJ

更新日期：2011-03-01 00:00:00

abstract：:The molecular pathogenesis of renal cell carcinoma (RCC) is poorly understood. Whole-genome and exome sequencing followed by innovative tumorgraft analyses (to accurately determine mutant allele ratios) identified several putative two-hit tumor suppressor genes, including BAP1. The BAP1 protein, a nuclear deubiquitina...

journal_title：Nature genetics

authors： Peña-Llopis S,Vega-Rubín-de-Celis S,Liao A,Leng N,Pavía-Jiménez A,Wang S,Yamasaki T,Zhrebker L,Sivanand S,Spence P,Kinch L,Hambuch T,Jain S,Lotan Y,Margulis V,Sagalowsky AI,Summerour PB,Kabbani W,Wong SW,Grishin N,

更新日期：2012-06-10 00:00:00

abstract：:The 17q21.31 inversion polymorphism exists either as direct (H1) or inverted (H2) haplotypes with differential predispositions to disease and selection. We investigated its genetic diversity in 2,700 individuals, with an emphasis on African populations. We characterize eight structural haplotypes due to complex rearra...

journal_title：Nature genetics

authors： Steinberg KM,Antonacci F,Sudmant PH,Kidd JM,Campbell CD,Vives L,Malig M,Scheinfeldt L,Beggs W,Ibrahim M,Lema G,Nyambo TB,Omar SA,Bodo JM,Froment A,Donnelly MP,Kidd KK,Tishkoff SA,Eichler EE

更新日期：2012-07-01 00:00:00

abstract：:A general question for linkage disequilibrium-based association studies is how power to detect an association is compromised when tag SNPs are chosen from data in one population sample and then deployed in another sample. Specifically, it is important to know how well tags picked from the HapMap DNA samples capture th...

journal_title：Nature genetics

authors： de Bakker PI,Burtt NP,Graham RR,Guiducci C,Yelensky R,Drake JA,Bersaglieri T,Penney KL,Butler J,Young S,Onofrio RC,Lyon HN,Stram DO,Haiman CA,Freedman ML,Zhu X,Cooper R,Groop L,Kolonel LN,Henderson BE,Daly MJ,Hi

更新日期：2006-11-01 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：:To shed light on the peopling of South Asia and the origins of the morphological adaptations found there, we analyzed whole-genome sequences from 10 Andamanese individuals and compared them with sequences for 60 individuals from mainland Indian populations with different ethnic histories and with publicly available da...

journal_title：Nature genetics

authors： Mondal M,Casals F,Xu T,Dall'Olio GM,Pybus M,Netea MG,Comas D,Laayouni H,Li Q,Majumder PP,Bertranpetit J

更新日期：2016-09-01 00:00:00

abstract：:The degree to which genetic factors influence human intelligence remains a matter of some controversy. However, there is little doubt that single gene mutations can significantly alter brain development and function. For example, mutations affecting the FMR1 gene cause the fragile X syndrome, the most prevalent known ...

journal_title：Nature genetics

authors： Reiss AL,Freund LS,Baumgardner TL,Abrams MT,Denckla MB

更新日期：1995-11-01 00:00:00

abstract：:Measurements of erythrocytes within the blood are important clinical traits and can indicate various hematological disorders. We report here genome-wide association studies (GWAS) for six erythrocyte traits, including hemoglobin concentration (Hb), hematocrit (Hct), mean corpuscular volume (MCV), mean corpuscular hemo...

journal_title：Nature genetics

authors： Ganesh SK,Zakai NA,van Rooij FJ,Soranzo N,Smith AV,Nalls MA,Chen MH,Kottgen A,Glazer NL,Dehghan A,Kuhnel B,Aspelund T,Yang Q,Tanaka T,Jaffe A,Bis JC,Verwoert GC,Teumer A,Fox CS,Guralnik JM,Ehret GB,Rice K,Feli

更新日期：2009-11-01 00:00:00

abstract：:Low-level ectopic expression of the Runt transcription factor blocks activation of the Drosophila melanogaster segmentation gene engrailed (en) in odd-numbered parasegments and is associated with a lethal phenotype. Here we show, by using a genetic screen for maternal factors that contribute in a dose-dependent fashio...

journal_title：Nature genetics

authors： Wheeler JC,VanderZwan C,Xu X,Swantek D,Tracey WD,Gergen JP

更新日期：2002-09-01 00:00:00

abstract：:Sialidase (neuraminidase, EC 3.2.1.18) catalyses the hydrolysis of terminal sialic acid residues of glyconjugates. Sialidase has been well studied in viruses and bacteria where it destroys the sialic acid-containing receptors at the surface of host cells, and mobilizes bacterial nutrients. In mammals, three types of s...

journal_title：Nature genetics

authors： Pshezhetsky AV,Richard C,Michaud L,Igdoura S,Wang S,Elsliger MA,Qu J,Leclerc D,Gravel R,Dallaire L,Potier M

更新日期：1997-03-01 00:00:00

abstract：:Sequence variation in human genes is largely confined to single-nucleotide polymorphisms (SNPs) and is valuable in tests of association with common diseases and pharmacogenetic traits. We performed a systematic and comprehensive survey of molecular variation to assess the nature, pattern and frequency of SNPs in 75 ca...

journal_title：Nature genetics

authors： Halushka MK,Fan JB,Bentley K,Hsie L,Shen N,Weder A,Cooper R,Lipshutz R,Chakravarti A

更新日期：1999-07-01 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：:A new study successfully applies complementary whole-genome sequencing and imputation approaches to establish robust disease associations in an isolated population. This strategy is poised to help elucidate the role of variants at the low end of the allele frequency spectrum in the genetic architecture of complex trai...

journal_title：Nature genetics

authors： Zeggini E

更新日期：2011-03-29 00:00:00

abstract：:In embryonic stem cells (ESCs), developmental gene promoters are characterized by their bivalent chromatin state, with simultaneous modification by MLL2 and Polycomb complexes. Although essential for embryogenesis, bivalency is functionally not well understood. Here, we show that MLL2 plays a central role in ESC genom...

journal_title：Nature genetics

authors： Mas G,Blanco E,Ballaré C,Sansó M,Spill YG,Hu D,Aoi Y,Le Dily F,Shilatifard A,Marti-Renom MA,Di Croce L

更新日期：2018-10-01 00:00:00

abstract：:Pelger-Huët anomaly (PHA; OMIM *169400) is an autosomal dominant disorder characterized by abnormal nuclear shape and chromatin organization in blood granulocytes. Affected individuals show hypolobulated neutrophil nuclei with coarse chromatin. Presumed homozygous individuals have ovoid neutrophil nuclei, as well as v...

journal_title：Nature genetics

authors： Hoffmann K,Dreger CK,Olins AL,Olins DE,Shultz LD,Lucke B,Karl H,Kaps R,Müller D,Vayá A,Aznar J,Ware RE,Sotelo Cruz N,Lindner TH,Herrmann H,Reis A,Sperling K

更新日期：2002-08-01 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