APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.

abstract：:Genetic linkage studies with chromosome 21 DNA markers and mutation analysis of the beta-amyloid protein precursor gene located in 21q21.3 have indicated that early-onset Alzheimer's disease (EOAD) is a heterogeneous disorder for which at least one other chromosomal locus exists. We examined two extended histopatholog...

journal_title：Nature genetics

authors： Van Broeckhoven C,Backhovens H,Cruts M,De Winter G,Bruyland M,Cras P,Martin JJ

更新日期：1992-12-01 00:00:00

abstract：:Intestinal microbiota is known to be important in health and disease. Its composition is influenced by both environmental and host factors. Few large-scale studies have evaluated the association between host genetic variation and the composition of microbiota. We recruited a cohort of 1,561 healthy individuals, of who...

journal_title：Nature genetics

authors： Turpin W,Espin-Garcia O,Xu W,Silverberg MS,Kevans D,Smith MI,Guttman DS,Griffiths A,Panaccione R,Otley A,Xu L,Shestopaloff K,Moreno-Hagelsieb G,GEM Project Research Consortium.,Paterson AD,Croitoru K

更新日期：2016-11-01 00:00:00

abstract：:Schizophrenia is a complex disorder caused by both genetic and environmental factors. Using 9,087 affected individuals, 12,171 controls and 915,354 imputed SNPs from the Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium (PGC-SCZ), we estimate that 23% (s.e. = 1%) of variation in liability to sc...

journal_title：Nature genetics

authors： Lee SH,DeCandia TR,Ripke S,Yang J,Schizophrenia Psychiatric Genome-Wide Association Study Consortium (PGC-SCZ).,International Schizophrenia Consortium (ISC).,Molecular Genetics of Schizophrenia Collaboration (MGS).,Sullivan PF,Goddard ME

更新日期：2012-02-19 00:00:00

abstract：:Somatic rearrangements contribute to the mutagenized landscape of cancer genomes. Here, we systematically interrogated rearrangements in 560 breast cancers by using a piecewise constant fitting approach. We identified 33 hotspots of large (>100 kb) tandem duplications, a mutational signature associated with homologous...

journal_title：Nature genetics

authors： Glodzik D,Morganella S,Davies H,Simpson PT,Li Y,Zou X,Diez-Perez J,Staaf J,Alexandrov LB,Smid M,Brinkman AB,Rye IH,Russnes H,Raine K,Purdie CA,Lakhani SR,Thompson AM,Birney E,Stunnenberg HG,van de Vijver MJ,Marten

更新日期：2017-03-01 00:00:00

abstract：:The telomerase enzyme lengthens telomeres, an activity essential for chromosome stability in most eukaryotes. The enzyme is composed of a specialized reverse transcriptase and a template RNA. In Saccharomyces cerevisiae, overexpression of TLC1, the telomerase RNA gene, disrupts telomeric structure. The result is both ...

journal_title：Nature genetics

authors： Peterson SE,Stellwagen AE,Diede SJ,Singer MS,Haimberger ZW,Johnson CO,Tzoneva M,Gottschling DE

更新日期：2001-01-01 00:00:00

abstract：:Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyot...

journal_title：Nature genetics

authors： Redin C,Brand H,Collins RL,Kammin T,Mitchell E,Hodge JC,Hanscom C,Pillalamarri V,Seabra CM,Abbott MA,Abdul-Rahman OA,Aberg E,Adley R,Alcaraz-Estrada SL,Alkuraya FS,An Y,Anderson MA,Antolik C,Anyane-Yeboa K,Atkin JF

更新日期：2017-01-01 00:00:00

abstract：:Human telomeres are composed of long arrays of TTAGGG repeats that form a nucleoprotein complex required for the protection and replication of chromosome ends. One component of human telomeres is the TTAGGG repeat binding factor 1 (TRF1), a ubiquitously expressed protein, related to the protooncogene Myb, that is pres...

journal_title：Nature genetics

authors： Broccoli D,Smogorzewska A,Chong L,de Lange T

更新日期：1997-10-01 00:00:00

abstract：:Facioscapulohumeral dystrophy (FSHD) is characterized by chromatin relaxation of the D4Z4 macrosatellite array on chromosome 4 and expression of the D4Z4-encoded DUX4 gene in skeletal muscle. The more common form, autosomal dominant FSHD1, is caused by contraction of the D4Z4 array, whereas the genetic determinants an...

journal_title：Nature genetics

authors： Lemmers RJ,Tawil R,Petek LM,Balog J,Block GJ,Santen GW,Amell AM,van der Vliet PJ,Almomani R,Straasheijm KR,Krom YD,Klooster R,Sun Y,den Dunnen JT,Helmer Q,Donlin-Smith CM,Padberg GW,van Engelen BG,de Greef JC,Aartsm

更新日期：2012-12-01 00:00:00

abstract：:The syndrome of hyperactivity describes behavioural disorders existing mainly in children and characterized by increased levels of motor activity, inattention and impulsivity. Overall the aetiology is poorly understood due to the heterogeneity of the pathology although psychological, biological and social factors acti...

journal_title：Nature genetics

authors： Moisan MP,Courvoisier H,Bihoreau MT,Gauguier D,Hendley ED,Lathrop M,James MR,Mormède P

更新日期：1996-12-01 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：:Estimating individual ancestry is important in genetic association studies where population structure leads to false positive signals, although assigning ancestry remains challenging with targeted sequence data. We propose a new method for the accurate estimation of individual genetic ancestry, based on direct analysi...

journal_title：Nature genetics

authors： Wang C,Zhan X,Bragg-Gresham J,Kang HM,Stambolian D,Chew EY,Branham KE,Heckenlively J,FUSION Study.,Fulton R,Wilson RK,Mardis ER,Lin X,Swaroop A,Zöllner S,Abecasis GR

更新日期：2014-04-01 00:00:00

abstract：:Systemic lupus erythematosus (SLE) is a complex autoimmune disease that causes substantial morbidity. As is typical for many other multifactorial disorders, much of the heritability of SLE remains unknown. We identified a rare autosomal recessive form of SLE, in which autozygome analysis revealed a null mutation in th...

journal_title：Nature genetics

authors： Al-Mayouf SM,Sunker A,Abdwani R,Abrawi SA,Almurshedi F,Alhashmi N,Al Sonbul A,Sewairi W,Qari A,Abdallah E,Al-Owain M,Al Motywee S,Al-Rayes H,Hashem M,Khalak H,Al-Jebali L,Alkuraya FS

更新日期：2011-10-23 00:00:00

abstract：:Key challenges for human genetics, precision medicine and evolutionary biology include deciphering the regulatory code of gene expression and understanding the transcriptional effects of genome variation. However, this is extremely difficult because of the enormous scale of the noncoding mutation space. We developed a...

journal_title：Nature genetics

authors： Zhou J,Theesfeld CL,Yao K,Chen KM,Wong AK,Troyanskaya OG

更新日期：2018-08-01 00:00:00

abstract：:Mutation of the gene PARK2, which encodes an E3 ubiquitin ligase, is the most common cause of early-onset Parkinson's disease. In a search for multisite tumor suppressors, we identified PARK2 as a frequently targeted gene on chromosome 6q25.2-q27 in cancer. Here we describe inactivating somatic mutations and frequent ...

journal_title：Nature genetics

authors： Veeriah S,Taylor BS,Meng S,Fang F,Yilmaz E,Vivanco I,Janakiraman M,Schultz N,Hanrahan AJ,Pao W,Ladanyi M,Sander C,Heguy A,Holland EC,Paty PB,Mischel PS,Liau L,Cloughesy TF,Mellinghoff IK,Solit DB,Chan TA

更新日期：2010-01-01 00:00:00

abstract：:Hypertriglyceridemia is a hallmark of many disorders, including metabolic syndrome, diabetes, atherosclerosis and obesity. A well-known cause is the deficiency of lipoprotein lipase (LPL), a key enzyme in plasma triglyceride hydrolysis. Mice carrying the combined lipase deficiency (cld) mutation show severe hypertrigl...

journal_title：Nature genetics

authors： Péterfy M,Ben-Zeev O,Mao HZ,Weissglas-Volkov D,Aouizerat BE,Pullinger CR,Frost PH,Kane JP,Malloy MJ,Reue K,Pajukanta P,Doolittle MH

更新日期：2007-12-01 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：:The hallmark of type 2 diabetes, the most common metabolic disorder, is a defect in insulin-stimulated glucose transport in peripheral tissues. Although a role for phosphoinositide-3-kinase (PI3K) activity in insulin-stimulated glucose transport and glucose transporter isoform 4 (Glut4) translocation has been suggeste...

journal_title：Nature genetics

authors： Terauchi Y,Tsuji Y,Satoh S,Minoura H,Murakami K,Okuno A,Inukai K,Asano T,Kaburagi Y,Ueki K,Nakajima H,Hanafusa T,Matsuzawa Y,Sekihara H,Yin Y,Barrett JC,Oda H,Ishikawa T,Akanuma Y,Komuro I,Suzuki M,Yamamura K,

更新日期：1999-02-01 00:00:00

abstract：:The homeodomain protein IPF1 (also known as IDX1, STF1 and PDX1; see Methods) is critical for development of the pancreas in mice and is a key factor for the regulation of the insulin gene in the beta-cells of the endocrine pancreas. Targeted disruption of the Ipf1 gene encoding IPF1 in transgenic mice results in a fa...

journal_title：Nature genetics

authors： Stoffers DA,Zinkin NT,Stanojevic V,Clarke WL,Habener JF

更新日期：1997-01-01 00:00:00

abstract：:Marine mammals from different mammalian orders share several phenotypic traits adapted to the aquatic environment and therefore represent a classic example of convergent evolution. To investigate convergent evolution at the genomic level, we sequenced and performed de novo assembly of the genomes of three species of m...

journal_title：Nature genetics

authors： Foote AD,Liu Y,Thomas GW,Vinař T,Alföldi J,Deng J,Dugan S,van Elk CE,Hunter ME,Joshi V,Khan Z,Kovar C,Lee SL,Lindblad-Toh K,Mancia A,Nielsen R,Qin X,Qu J,Raney BJ,Vijay N,Wolf JB,Hahn MW,Muzny DM,Worley KC,

更新日期：2015-03-01 00:00:00

abstract：:Stem cell regulation is critical to the development of all multicellular organisms; in plants, stem cell niches reside in meristems. Two newly identified plant genes establish a novel signaling feedback from the incipient leaf primordia back to the meristem that is required to regulate stem cell proliferation. ...

journal_title：Nature genetics

authors： Strable J,Scanlon MJ

更新日期：2016-06-28 00:00:00

abstract：:During vertebrate embryogenesis, myogenic precursor cells of limb muscles delaminate from the ventro-lateral edge of the somitic dermomyotome and migrate to the limb buds, where they congregate into dorsal and ventral muscle masses. It has been proposed that the surrounding connective tissue controls muscle pattern fo...

journal_title：Nature genetics

authors： Schäfer K,Braun T

更新日期：1999-10-01 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：:Type 1 diabetes (T1D) is a common autoimmune disorder that arises from the action of multiple genetic and environmental risk factors. We report the findings of a genome-wide association study of T1D, combined in a meta-analysis with two previously published studies. The total sample set included 7,514 cases and 9,045 ...

journal_title：Nature genetics

authors： Barrett JC,Clayton DG,Concannon P,Akolkar B,Cooper JD,Erlich HA,Julier C,Morahan G,Nerup J,Nierras C,Plagnol V,Pociot F,Schuilenburg H,Smyth DJ,Stevens H,Todd JA,Walker NM,Rich SS,Type 1 Diabetes Genetics Consortium.

更新日期：2009-06-01 00:00:00

abstract：:Uterine leiomyomata (fibroids) are common and clinically important tumors, but little is known about their etiology and pathogenesis. We previously mapped a gene that predisposes to multiple fibroids, cutaneous leiomyomata and renal cell carcinoma to chromosome 1q42.3-q43 (refs 4-6). Here we show, through a combinatio...

journal_title：Nature genetics

authors： Tomlinson IP,Alam NA,Rowan AJ,Barclay E,Jaeger EE,Kelsell D,Leigh I,Gorman P,Lamlum H,Rahman S,Roylance RR,Olpin S,Bevan S,Barker K,Hearle N,Houlston RS,Kiuru M,Lehtonen R,Karhu A,Vilkki S,Laiho P,Eklund C,Vie

更新日期：2002-04-01 00:00:00

abstract：:The shift from outcrossing to selfing is common in flowering plants, but the genomic consequences and the speed at which they emerge remain poorly understood. An excellent model for understanding the evolution of self fertilization is provided by Capsella rubella, which became self compatible <200,000 years ago. We re...

journal_title：Nature genetics

authors： Slotte T,Hazzouri KM,Ågren JA,Koenig D,Maumus F,Guo YL,Steige K,Platts AE,Escobar JS,Newman LK,Wang W,Mandáková T,Vello E,Smith LM,Henz SR,Steffen J,Takuno S,Brandvain Y,Coop G,Andolfatto P,Hu TT,Blanchette M,

更新日期：2013-07-01 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：:Using transgenic mice expressing human cystatin C (encoded by CST3), we show that cystatin C binds soluble amyloid-beta peptide and inhibits cerebral amyloid deposition in amyloid-beta precursor protein (APP) transgenic mice. Cystatin C expression twice that of the endogenous mouse cystatin C was sufficient to substan...

journal_title：Nature genetics

authors： Mi W,Pawlik M,Sastre M,Jung SS,Radvinsky DS,Klein AM,Sommer J,Schmidt SD,Nixon RA,Mathews PM,Levy E

更新日期：2007-12-01 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

abstract：:Nearly all cases of fragile X syndrome result from expansion of a CGG trinucleotide repeat found in the 5' untranslated portion of the FMR1 gene. Methylation of the expanded repeats correlates with down-regulation of transcription of FMR1; thus fragile X syndrome is postulated to be due to a loss of function of the FM...

journal_title：Nature genetics

authors： Lugenbeel KA,Peier AM,Carson NL,Chudley AE,Nelson DL

更新日期：1995-08-01 00:00:00

abstract：:A new study shows that HOXB13 is preferentially recruited to the risk allele of a prostate cancer-associated SNP, enhancing the expression of RFX6, a driver of prostate cancer cell migration and predictor of disease progression. The work illustrates how a single risk locus contributes both to prostate cancer incidence...

journal_title：Nature genetics

authors： Mills IG

更新日期：2014-02-01 00:00:00