Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria.

abstract：:Elucidating how and to what extent CpG islands (CGIs) are methylated in germ cells is essential to understand genomic imprinting and epigenetic reprogramming. Here we present, to our knowledge, the first integrated epigenomic analysis of mammalian oocytes, identifying over a thousand CGIs methylated in mature oocytes....

journal_title：Nature genetics

authors： Smallwood SA,Tomizawa S,Krueger F,Ruf N,Carli N,Segonds-Pichon A,Sato S,Hata K,Andrews SR,Kelsey G

更新日期：2011-06-26 00:00:00

abstract：:Bread wheat improvement using genomic tools is essential for accelerating trait genetic gains. Here we report the genomic predictabilities of 35 key traits and demonstrate the potential of genomic selection for wheat end-use quality. We also performed a large genome-wide association study that identified several signi...

journal_title：Nature genetics

authors： Juliana P,Poland J,Huerta-Espino J,Shrestha S,Crossa J,Crespo-Herrera L,Toledo FH,Govindan V,Mondal S,Kumar U,Bhavani S,Singh PK,Randhawa MS,He X,Guzman C,Dreisigacker S,Rouse MN,Jin Y,Pérez-Rodríguez P,Montesinos-L

更新日期：2019-10-01 00:00:00

abstract：:1 alpha,25-Dihydroxyvitamin D3[1 alpha,25(OH)2D3], an active form of vitamin D, has roles in many biological phenomena such as calcium homeostasis and bone formation, which are thought to be mediated by the 1 alpha,25(OH)2D3 receptor (VDR), a member of the nuclear hormone receptor superfamily. However, the molecular b...

journal_title：Nature genetics

authors： Yoshizawa T,Handa Y,Uematsu Y,Takeda S,Sekine K,Yoshihara Y,Kawakami T,Arioka K,Sato H,Uchiyama Y,Masushige S,Fukamizu A,Matsumoto T,Kato S

更新日期：1997-08-01 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：:Enterotoxigenic Escherichia coli (ETEC), a major cause of infectious diarrhea, produce heat-stable and/or heat-labile enterotoxins and at least 25 different colonization factors that target the intestinal mucosa. The genes encoding the enterotoxins and most of the colonization factors are located on plasmids found acr...

journal_title：Nature genetics

authors： von Mentzer A,Connor TR,Wieler LH,Semmler T,Iguchi A,Thomson NR,Rasko DA,Joffre E,Corander J,Pickard D,Wiklund G,Svennerholm AM,Sjöling Å,Dougan G

更新日期：2014-12-01 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：:An exceptional muscle development commonly referred to as 'double-muscled' (Fig. 1) has been seen in several cattle breeds and has attracted considerable attention from beef producers. Double-muscled animals are characterized by an increase in muscle mass of about 20%, due to general skeletal-muscle hyperplasia-that i...

journal_title：Nature genetics

authors： Grobet L,Martin LJ,Poncelet D,Pirottin D,Brouwers B,Riquet J,Schoeberlein A,Dunner S,Ménissier F,Massabanda J,Fries R,Hanset R,Georges M

更新日期：1997-09-01 00:00:00

abstract：:Genomic instability at simple repeated sequences (SRS) is a landmark for some sporadic and hereditary cancers of the colon. We have identified several human tumour cell lines with up to 1,000-fold increases in mutation rates for endogenous microsatellite sequences, relative to normal cells or tumour cells without the ...

journal_title：Nature genetics

authors： Shibata D,Peinado MA,Ionov Y,Malkhosyan S,Perucho M

更新日期：1994-03-01 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：:Pioneer transcription factors establish new cell-fate competence by triggering chromatin remodeling. However, many features of pioneer action, such as their kinetics and stability, remain poorly defined. Here, we show that Pax7, by opening a unique repertoire of enhancers, is necessary and sufficient for specification...

journal_title：Nature genetics

authors： Mayran A,Khetchoumian K,Hariri F,Pastinen T,Gauthier Y,Balsalobre A,Drouin J

更新日期：2018-02-01 00:00:00

abstract：:Microarray analysis has become a widely used tool for the generation of gene expression data on a genomic scale. Although many significant results have been derived from microarray studies, one limitation has been the lack of standards for presenting and exchanging such data. Here we present a proposal, the Minimum In...

journal_title：Nature genetics

authors： Brazma A,Hingamp P,Quackenbush J,Sherlock G,Spellman P,Stoeckert C,Aach J,Ansorge W,Ball CA,Causton HC,Gaasterland T,Glenisson P,Holstege FC,Kim IF,Markowitz V,Matese JC,Parkinson H,Robinson A,Sarkans U,Schulze-Krem

更新日期：2001-12-01 00:00:00

abstract：:Animal models indicate that the antimicrobial peptide hepcidin (HAMP; OMIM 606464) is probably a key regulator of iron absorption in mammals. Here we report the identification of two mutations (93delG and 166C-->T) in HAMP on 19q13 in two families with a new type of juvenile hemochromatosis. ...

journal_title：Nature genetics

authors： Roetto A,Papanikolaou G,Politou M,Alberti F,Girelli D,Christakis J,Loukopoulos D,Camaschella C

更新日期：2003-01-01 00:00:00

abstract：:Ocular retardation (or) is a murine eye mutation causing microphthalmia, a thin hypocellular retina and optic nerve aplasia. Here we show that mice carrying the OrJ allele have a premature stop codon in the homeobox of the Chx10 gene, a gene expressed at high levels in uncommitted retinal progenitor cells and mature b...

journal_title：Nature genetics

authors： Burmeister M,Novak J,Liang MY,Basu S,Ploder L,Hawes NL,Vidgen D,Hoover F,Goldman D,Kalnins VI,Roderick TH,Taylor BA,Hankin MH,McInnes RR

更新日期：1996-04-01 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：:Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency with neutropenia and lack of natural killer (NK) cells, a bleeding tendency and neurologic abnormalities. Most patients die in childhood. The CHS hallmark is the occurrence of giant i...

journal_title：Nature genetics

authors： Nagle DL,Karim MA,Woolf EA,Holmgren L,Bork P,Misumi DJ,McGrail SH,Dussault BJ Jr,Perou CM,Boissy RE,Duyk GM,Spritz RA,Moore KJ

更新日期：1996-11-01 00:00:00

abstract：:We conducted genome-wide association studies of non-Hodgkin lymphoma using Illumina HumanHap550 BeadChips to identify subtype-specific associations in follicular, diffuse large B-cell and chronic lymphocytic leukemia/small lymphocytic lymphomas. We found that rs6457327 on 6p21.33 was associated with susceptibility to ...

journal_title：Nature genetics

authors： Skibola CF,Bracci PM,Halperin E,Conde L,Craig DW,Agana L,Iyadurai K,Becker N,Brooks-Wilson A,Curry JD,Spinelli JJ,Holly EA,Riby J,Zhang L,Nieters A,Smith MT,Brown KM

更新日期：2009-08-01 00:00:00

abstract：:Legionella pneumophila, the causative agent of Legionnaires' disease, replicates as an intracellular parasite of amoebae and persists in the environment as a free-living microbe. Here we have analyzed the complete genome sequences of L. pneumophila Paris (3,503,610 bp, 3,077 genes), an endemic strain that is predomina...

journal_title：Nature genetics

authors： Cazalet C,Rusniok C,Brüggemann H,Zidane N,Magnier A,Ma L,Tichit M,Jarraud S,Bouchier C,Vandenesch F,Kunst F,Etienne J,Glaser P,Buchrieser C

更新日期：2004-11-01 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

abstract：:Numerous genetic loci have been associated with systolic blood pressure (SBP) and diastolic blood pressure (DBP) in Europeans. We now report genome-wide association studies of pulse pressure (PP) and mean arterial pressure (MAP). In discovery (N = 74,064) and follow-up studies (N = 48,607), we identified at genome-wid...

journal_title：Nature genetics

authors： Wain LV,Verwoert GC,O'Reilly PF,Shi G,Johnson T,Johnson AD,Bochud M,Rice KM,Henneman P,Smith AV,Ehret GB,Amin N,Larson MG,Mooser V,Hadley D,Dörr M,Bis JC,Aspelund T,Esko T,Janssens AC,Zhao JH,Heath S,Laan M,

更新日期：2011-09-11 00:00:00

abstract：:The ages of puberty, first sexual intercourse and first birth signify the onset of reproductive ability, behavior and success, respectively. In a genome-wide association study of 125,667 UK Biobank participants, we identify 38 loci associated (P < 5 × 10(-8)) with age at first sexual intercourse. These findings were t...

journal_title：Nature genetics

authors： Day FR,Helgason H,Chasman DI,Rose LM,Loh PR,Scott RA,Helgason A,Kong A,Masson G,Magnusson OT,Gudbjartsson D,Thorsteinsdottir U,Buring JE,Ridker PM,Sulem P,Stefansson K,Ong KK,Perry JRB

更新日期：2016-06-01 00:00:00

abstract：:Hypotrichosis simplex is a group of nonsyndromic human alopecias. We mapped an autosomal recessive form of this disorder to chromosome 13q14.11-13q21.33, and identified homozygous truncating mutations in P2RY5, which encodes an orphan G protein-coupled receptor. Furthermore, we identified oleoyl-L-alpha-lysophosphatid...

journal_title：Nature genetics

authors： Pasternack SM,von Kügelgen I,Al Aboud K,Lee YA,Rüschendorf F,Voss K,Hillmer AM,Molderings GJ,Franz T,Ramirez A,Nürnberg P,Nöthen MM,Betz RC

更新日期：2008-03-01 00:00:00

abstract：:The initiation of DNA replication involves a minimum of four factors: a specific DNA sequence (origin), an initiator protein which binds to the origin, a helicase that unwinds the origin and a protein that binds single-stranded DNA that stabilizes the unwound origin. In eukaryotic cells, the origin recognition complex...

journal_title：Nature genetics

authors： Yan H,Chen CY,Kobayashi R,Newport J

更新日期：1998-08-01 00:00:00

abstract：:High resolution linkage maps have proven to be invaluable tools in genetic investigations. We have assembled a collection of genetic maps constructed from primary data collected from investigators performing genotyping using the Centre Etude Polymorphism Humain (CEPH) reference pedigree panel. These maps were construc...

journal_title：Nature genetics

authors： Buetow KH,Weber JL,Ludwigsen S,Scherpbier-Heddema T,Duyk GM,Sheffield VC,Wang Z,Murray JC

更新日期：1994-04-01 00:00:00

abstract：:Studies in experimental systems have identified a multitude of mutational mechanisms including DNA replication infidelity and DNA damage followed by inefficient repair or replicative bypass. However, the relative contributions of these mechanisms to human germline mutation remain unknown. Here, we show that error-pron...

journal_title：Nature genetics

authors： Seplyarskiy VB,Akkuratov EE,Akkuratova N,Andrianova MA,Nikolaev SI,Bazykin GA,Adameyko I,Sunyaev SR

更新日期：2019-01-01 00:00:00

abstract：:We conducted a genome-wide association study on 969 bladder cancer cases and 957 controls from Texas. For fast-track validation, we evaluated 60 SNPs in three additional US populations and validated the top SNP in nine European populations. A missense variant (rs2294008) in the PSCA gene showed consistent association ...

journal_title：Nature genetics

authors： Wu X,Ye Y,Kiemeney LA,Sulem P,Rafnar T,Matullo G,Seminara D,Yoshida T,Saeki N,Andrew AS,Dinney CP,Czerniak B,Zhang ZF,Kiltie AE,Bishop DT,Vineis P,Porru S,Buntinx F,Kellen E,Zeegers MP,Kumar R,Rudnai P,Gurzau

更新日期：2009-09-01 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：:The concepts of gene therapy arose initially during the 1960s and early 1970s whilst the development of genetically marked cells lines and the clarification of mechanisms of cell transformation by the papaovaviruses polyoma and SV40 was in progress. With the arrival of recombinant DNA techniques, cloned genes became a...

journal_title：Nature genetics

authors： Friedmann T

更新日期：1992-10-01 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：:Restless legs syndrome (RLS) is a frequent neurological disorder characterized by an imperative urge to move the legs during night, unpleasant sensation in the lower limbs, disturbed sleep and increased cardiovascular morbidity. In a genome-wide association study we found highly significant associations between RLS an...

journal_title：Nature genetics

authors： Winkelmann J,Schormair B,Lichtner P,Ripke S,Xiong L,Jalilzadeh S,Fulda S,Pütz B,Eckstein G,Hauk S,Trenkwalder C,Zimprich A,Stiasny-Kolster K,Oertel W,Bachmann CG,Paulus W,Peglau I,Eisensehr I,Montplaisir J,Turecki G

更新日期：2007-08-01 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