A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.

abstract：:Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL; MIM 221770), also known as Nasu-Hakola disease, is a recessively inherited disease characterized by a combination of psychotic symptoms rapidly progressing to presenile dementia and bone cysts restricted to wrists and ankles. PLOSL ha...

journal_title：Nature genetics

authors： Paloneva J,Kestilä M,Wu J,Salminen A,Böhling T,Ruotsalainen V,Hakola P,Bakker AB,Phillips JH,Pekkarinen P,Lanier LL,Timonen T,Peltonen L

更新日期：2000-07-01 00:00:00

abstract：:The genetic basis of most conditions characterized by congenital contractures is largely unknown. Here we show that mutations in the embryonic myosin heavy chain (MYH3) gene cause Freeman-Sheldon syndrome (FSS), one of the most severe multiple congenital contracture (that is, arthrogryposis) syndromes, and nearly one-...

journal_title：Nature genetics

authors： Toydemir RM,Rutherford A,Whitby FG,Jorde LB,Carey JC,Bamshad MJ

更新日期：2006-05-01 00:00:00

abstract：:We report the first identified mutation in the gene encoding human cytochrome c (CYCS). Glycine 41, invariant throughout eukaryotes, is substituted by serine in a family with autosomal dominant thrombocytopenia caused by dysregulated platelet formation. The mutation yields a cytochrome c variant with enhanced apoptoti...

journal_title：Nature genetics

authors： Morison IM,Cramer Bordé EM,Cheesman EJ,Cheong PL,Holyoake AJ,Fichelson S,Weeks RJ,Lo A,Davies SM,Wilbanks SM,Fagerlund RD,Ludgate MW,da Silva Tatley FM,Coker MS,Bockett NA,Hughes G,Pippig DA,Smith MP,Capron C,Ledger

更新日期：2008-04-01 00:00:00

abstract：:Autosomal dominant optic atrophy (ADOA) is the most prevalent hereditary optic neuropathy resulting in progressive loss of visual acuity, centrocoecal scotoma and bilateral temporal atrophy of the optic nerve with an onset within the first two decades of life. The predominant locus for this disorder (OPA1; MIM 165500)...

journal_title：Nature genetics

authors： Alexander C,Votruba M,Pesch UE,Thiselton DL,Mayer S,Moore A,Rodriguez M,Kellner U,Leo-Kottler B,Auburger G,Bhattacharya SS,Wissinger B

更新日期：2000-10-01 00:00:00

abstract：:To further resolve the genetic architecture of the inflammatory bowel diseases ulcerative colitis and Crohn's disease, we sequenced the whole genomes of 4,280 patients at low coverage and compared them to 3,652 previously sequenced population controls across 73.5 million variants. We then imputed from these sequences ...

journal_title：Nature genetics

authors： Luo Y,de Lange KM,Jostins L,Moutsianas L,Randall J,Kennedy NA,Lamb CA,McCarthy S,Ahmad T,Edwards C,Serra EG,Hart A,Hawkey C,Mansfield JC,Mowat C,Newman WG,Nichols S,Pollard M,Satsangi J,Simmons A,Tremelling M,Uh

更新日期：2017-02-01 00:00:00

abstract：:Febrile seizures represent a serious adverse event following measles, mumps and rubella (MMR) vaccination. We conducted a series of genome-wide association scans comparing children with MMR-related febrile seizures, children with febrile seizures unrelated to vaccination and controls with no history of febrile seizure...

journal_title：Nature genetics

authors： Feenstra B,Pasternak B,Geller F,Carstensen L,Wang T,Huang F,Eitson JL,Hollegaard MV,Svanström H,Vestergaard M,Hougaard DM,Schoggins JW,Jan LY,Melbye M,Hviid A

更新日期：2014-12-01 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：:Ataxia with isolated vitamin E deficiency (AVED) is an autosomal recessive neurodegenerative disease which maps to chromosome 8q13. AVED patients have an impaired ability to incorporate alpha-tocopherol into lipoproteins secreted by the liver, a function putatively attributable to the alpha-tocopherol transfer protein...

journal_title：Nature genetics

authors： Ouahchi K,Arita M,Kayden H,Hentati F,Ben Hamida M,Sokol R,Arai H,Inoue K,Mandel JL,Koenig M

更新日期：1995-02-01 00:00:00

abstract：:Refsum disease is an autosomal-recessively inherited disorder characterized clinically by a tetrad of abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells in the CSF. All patients exhibit ac...

journal_title：Nature genetics

authors： Jansen GA,Ofman R,Ferdinandusse S,Ijlst L,Muijsers AO,Skjeldal OH,Stokke O,Jakobs C,Besley GT,Wraith JE,Wanders RJ

更新日期：1997-10-01 00:00:00

abstract：:The lipodystrophies are a group of disorders characterized by the absence or reduction of subcutaneous adipose tissue. Partial lipodystrophy (PLD; MIM 151660) is an inherited condition in which a regional (trunk and limbs) loss of fat occurs during the peri-pubertal phase. Additionally, variable degrees of resistance ...

journal_title：Nature genetics

authors： Shackleton S,Lloyd DJ,Jackson SN,Evans R,Niermeijer MF,Singh BM,Schmidt H,Brabant G,Kumar S,Durrington PN,Gregory S,O'Rahilly S,Trembath RC

更新日期：2000-02-01 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：:Population stratification refers to differences in allele frequencies between cases and controls due to systematic differences in ancestry rather than association of genes with disease. It has been proposed that false positive associations due to stratification can be controlled by genotyping a few dozen unlinked gene...

journal_title：Nature genetics

authors： Freedman ML,Reich D,Penney KL,McDonald GJ,Mignault AA,Patterson N,Gabriel SB,Topol EJ,Smoller JW,Pato CN,Pato MT,Petryshen TL,Kolonel LN,Lander ES,Sklar P,Henderson B,Hirschhorn JN,Altshuler D

更新日期：2004-04-01 00:00:00

abstract：:There is increasing evidence that epigenetic information can be inherited across generations in mammals, despite extensive reprogramming both in the gametes and in the early developing embryo. One corollary to this is that disrupting the establishment of epigenetic state in the gametes of a parent, as a result of hete...

journal_title：Nature genetics

authors： Chong S,Vickaryous N,Ashe A,Zamudio N,Youngson N,Hemley S,Stopka T,Skoultchi A,Matthews J,Scott HS,de Kretser D,O'Bryan M,Blewitt M,Whitelaw E

更新日期：2007-05-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have identified four susceptibility loci for epithelial ovarian cancer (EOC), with another two suggestive loci reaching near genome-wide significance. We pooled data from a GWAS conducted in North America with another GWAS from the UK. We selected the top 24,551 SNPs for inclusio...

journal_title：Nature genetics

authors： Pharoah PD,Tsai YY,Ramus SJ,Phelan CM,Goode EL,Lawrenson K,Buckley M,Fridley BL,Tyrer JP,Shen H,Weber R,Karevan R,Larson MC,Song H,Tessier DC,Bacot F,Vincent D,Cunningham JM,Dennis J,Dicks E,Australian Cancer Stud

更新日期：2013-04-01 00:00:00

abstract：:The abundance of transposable elements and DNA repeat sequences in mammalian genomes raises the question of whether such insertions represent passive evolutionary baggage or may influence the expression of complex traits. We addressed this question in Drosophila melanogaster, in which the effects of single transposabl...

journal_title：Nature genetics

authors： Rollmann SM,Magwire MM,Morgan TJ,Ozsoy ED,Yamamoto A,Mackay TF,Anholt RR

更新日期：2006-07-01 00:00:00

abstract：:G-quadruplex (G4) structural motifs have been linked to transcription, replication and genome instability and are implicated in cancer and other diseases. However, it is crucial to demonstrate the bona fide formation of G4 structures within an endogenous chromatin context. Herein we address this through the developmen...

journal_title：Nature genetics

authors： Hänsel-Hertsch R,Beraldi D,Lensing SV,Marsico G,Zyner K,Parry A,Di Antonio M,Pike J,Kimura H,Narita M,Tannahill D,Balasubramanian S

更新日期：2016-10-01 00:00:00

abstract：:Size at birth is an important determinant of perinatal survival and has also been associated with the risk for cardiovascular disease and type 2 diabetes in adult life. Common genetic variation that regulates fetal growth could therefore influence perinatal survival and predispose to the development of adult disease. ...

journal_title：Nature genetics

authors： Dunger DB,Ong KK,Huxtable SJ,Sherriff A,Woods KA,Ahmed ML,Golding J,Pembrey ME,Ring S,Bennett ST,Todd JA

更新日期：1998-05-01 00:00:00

abstract：:Wilson disease (WD) is an autosomal recessive disorder of copper transport which map to chromosome 13q14.3. In pursuit of the WD gene, we developed yeast artificial chromosome and cosmid contigs, and microsatellite markers which span the WD gene region. Linkage disequilibrium and haplotype analysis of 115 WD families ...

journal_title：Nature genetics

authors： Petrukhin K,Fischer SG,Pirastu M,Tanzi RE,Chernov I,Devoto M,Brzustowicz LM,Cayanis E,Vitale E,Russo JJ

更新日期：1993-12-01 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：:Mycobacterium tuberculosis strains of the Beijing lineage are globally distributed and are associated with the massive spread of multidrug-resistant (MDR) tuberculosis in Eurasia. Here we reconstructed the biogeographical structure and evolutionary history of this lineage by genetic analysis of 4,987 isolates from 99 ...

journal_title：Nature genetics

authors： Merker M,Blin C,Mona S,Duforet-Frebourg N,Lecher S,Willery E,Blum MG,Rüsch-Gerdes S,Mokrousov I,Aleksic E,Allix-Béguec C,Antierens A,Augustynowicz-Kopeć E,Ballif M,Barletta F,Beck HP,Barry CE 3rd,Bonnet M,Borroni E,

更新日期：2015-03-01 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：: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：:We apply integrative approaches to expression quantitative loci (eQTLs) from 44 tissues from the Genotype-Tissue Expression project and genome-wide association study data. About 60% of known trait-associated loci are in linkage disequilibrium with a cis-eQTL, over half of which were not found in previous large-scale w...

journal_title：Nature genetics

authors： Gamazon ER,Segrè AV,van de Bunt M,Wen X,Xi HS,Hormozdiari F,Ongen H,Konkashbaev A,Derks EM,Aguet F,Quan J,GTEx Consortium.,Nicolae DL,Eskin E,Kellis M,Getz G,McCarthy MI,Dermitzakis ET,Cox NJ,Ardlie KG

更新日期：2018-07-01 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：:Genetic robustness characterizes the constancy of the phenotype in face of heritable perturbations. Previous investigations have used comprehensive single and double gene knockouts to study gene essentiality and pairwise gene interactions in the yeast Saccharomyces cerevisiae. Here we conduct an in silico multiple kno...

journal_title：Nature genetics

authors： Deutscher D,Meilijson I,Kupiec M,Ruppin E

更新日期：2006-09-01 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：:The Syrian cardiomyopathic hamster (BIO14.6) has an inherited form of progressive myocardial necrosis and congestive heart failure. Although widely studied as an animal model for human hypertrophic cardiomyopathy, further genetic analysis has been limited by a scarcity of DNA markers. Until now, only six autosomal lin...

journal_title：Nature genetics

authors： Okazaki Y,Okuizumi H,Ohsumi T,Nomura O,Takada S,Kamiya M,Sasaki N,Matsuda Y,Nishimura M,Tagaya O,Muramatsu M,Hayashizaki Y

更新日期：1996-05-01 00:00:00

abstract：:Charting differences between tumors and normal tissue is a mainstay of cancer research. However, clonal tumor expansion from complex normal tissue architectures potentially obscures cancer-specific events, including divergent epigenetic patterns. Using whole-genome bisulfite sequencing of normal B cell subsets, we obs...

journal_title：Nature genetics

authors： Oakes CC,Seifert M,Assenov Y,Gu L,Przekopowitz M,Ruppert AS,Wang Q,Imbusch CD,Serva A,Koser SD,Brocks D,Lipka DB,Bogatyrova O,Weichenhan D,Brors B,Rassenti L,Kipps TJ,Mertens D,Zapatka M,Lichter P,Döhner H,Küppe

更新日期：2016-03-01 00:00:00

abstract：:We carried out a genome-wide association study of lung cancer (3,259 cases and 4,159 controls), followed by replication in 2,899 cases and 5,573 controls. Two uncorrelated disease markers at 5p15.33, rs402710 and rs2736100 were detected by the genome-wide data (P = 2 x 10(-7) and P = 4 x 10(-6)) and replicated by the ...

journal_title：Nature genetics

authors： McKay JD,Hung RJ,Gaborieau V,Boffetta P,Chabrier A,Byrnes G,Zaridze D,Mukeria A,Szeszenia-Dabrowska N,Lissowska J,Rudnai P,Fabianova E,Mates D,Bencko V,Foretova L,Janout V,McLaughlin J,Shepherd F,Montpetit A,Narod S

更新日期：2008-12-01 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