A systems analysis of mutational effects in HIV-1 protease and reverse transcriptase.

abstract：:Schwannomas are common peripheral nerve sheath tumors that can cause debilitating morbidities. We performed an integrative analysis to determine genomic aberrations common to sporadic schwannomas. Exome sequence analysis with validation by targeted DNA sequencing of 125 samples uncovered, in addition to expected NF2 d...

journal_title：Nature genetics

authors： Agnihotri S,Jalali S,Wilson MR,Danesh A,Li M,Klironomos G,Krieger JR,Mansouri A,Khan O,Mamatjan Y,Landon-Brace N,Tung T,Dowar M,Li T,Bruce JP,Burrell KE,Tonge PD,Alamsahebpour A,Krischek B,Agarwalla PK,Bi WL,Dun

更新日期：2016-11-01 00:00:00

abstract：:Tissue and cell-type identity lie at the core of human physiology and disease. Understanding the genetic underpinnings of complex tissues and individual cell lineages is crucial for developing improved diagnostics and therapeutics. We present genome-wide functional interaction networks for 144 human tissues and cell t...

journal_title：Nature genetics

authors： Greene CS,Krishnan A,Wong AK,Ricciotti E,Zelaya RA,Himmelstein DS,Zhang R,Hartmann BM,Zaslavsky E,Sealfon SC,Chasman DI,FitzGerald GA,Dolinski K,Grosser T,Troyanskaya OG

更新日期：2015-06-01 00:00:00

abstract：:The approach to annotating a genome critically affects the number and accuracy of genes identified in the genome sequence. Genome annotation based on stringent gene identification is prone to underestimate the complement of genes encoded in a genome. In contrast, over-prediction of putative genes followed by exhaustiv...

journal_title：Nature genetics

authors： Gopal S,Schroeder M,Pieper U,Sczyrba A,Aytekin-Kurban G,Bekiranov S,Fajardo JE,Eswar N,Sanchez R,Sali A,Gaasterland T

更新日期：2001-03-01 00:00:00

abstract：:The human gut microbiome plays a key role in human health 1 , but 16S characterization lacks quantitative functional annotation 2 . The fecal metabolome provides a functional readout of microbial activity and can be used as an intermediate phenotype mediating host-microbiome interactions 3 . In this comprehensive desc...

journal_title：Nature genetics

authors： Zierer J,Jackson MA,Kastenmüller G,Mangino M,Long T,Telenti A,Mohney RP,Small KS,Bell JT,Steves CJ,Valdes AM,Spector TD,Menni C

更新日期：2018-06-01 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

abstract：:We have developed a human artificial episomal chromosome (HAEC) system, based on the latent replication origin of the large herpes Epstein-Barr virus, for the propagation and stable maintenance of DNA as circular minichromosomes in human cells. Individual HAECs carried human genomic inserts ranging from 60-330 kb and ...

journal_title：Nature genetics

authors： Sun TQ,Fenstermacher DA,Vos JM

更新日期：1994-09-01 00:00:00

abstract：:Human cyclic haematopoiesis (cyclic neutropenia, MIM 162800) is an autosomal dominant disease in which blood-cell production from the bone marrow oscillates with 21-day periodicity. Circulating neutrophils vary between almost normal numbers and zero. During intervals of neutropenia, affected individuals are at risk fo...

journal_title：Nature genetics

authors： Horwitz M,Benson KF,Person RE,Aprikyan AG,Dale DC

更新日期：1999-12-01 00:00:00

abstract：:Domestication of cereal crops, such as maize, wheat and rice, had a profound influence on agriculture and the establishment of human civilizations. One major improvement was an increase in seed number per inflorescence, which enhanced yield and simplified harvesting and storage. The ancestor of maize, teosinte, makes ...

journal_title：Nature genetics

authors： Bommert P,Nagasawa NS,Jackson D

更新日期：2013-03-01 00:00:00

abstract：:Angle-closure glaucoma (ACG) is a subset of glaucoma affecting 16 million people. Although 4 million people are bilaterally blind from ACG, the causative molecular mechanisms of ACG remain to be defined. High intraocular pressure induces glaucoma in ACG. High intraocular pressure traditionally was suggested to result ...

journal_title：Nature genetics

authors： Nair KS,Hmani-Aifa M,Ali Z,Kearney AL,Ben Salem S,Macalinao DG,Cosma IM,Bouassida W,Hakim B,Benzina Z,Soto I,Söderkvist P,Howell GR,Smith RS,Ayadi H,John SW

更新日期：2011-06-01 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 basic helix-loop-helix (bHLH) transcription factors, Hand1 and Hand2 (refs 1,2), also called eHand/Hxt/Thing1 and dHand/Hed/Thing2 (refs 3,4), respectively, are expressed in the heart and certain neural-crest derivatives during embryogenesis. In addition, Hand1 is expressed in extraembryonic membranes, whereas Han...

journal_title：Nature genetics

authors： Firulli AB,McFadden DG,Lin Q,Srivastava D,Olson EN

更新日期：1998-03-01 00:00:00

abstract：:Polycomb Group (PcG) proteins silence critical developmental genes and modulate cell proliferation. Using the Drosophila melanogaster eye as a model system, we show that cells with mutations in the gene locus (ph) that encodes the PcG protein Polyhomeotic (PH) overproliferate and lose both the ability to differentiate...

journal_title：Nature genetics

authors： Martinez AM,Schuettengruber B,Sakr S,Janic A,Gonzalez C,Cavalli G

更新日期：2009-10-01 00:00:00

abstract：:G protein-coupled receptors (GPCRs) participate in the most common signal transduction system at the plasma membrane. The wide distribution of heterotrimeric G proteins in the internal membranes suggests that a similar signalling mechanism might also be used at intracellular locations. We provide here structural evide...

journal_title：Nature genetics

authors： Schiaffino MV,d'Addio M,Alloni A,Baschirotto C,Valetti C,Cortese K,Puri C,Bassi MT,Colla C,De Luca M,Tacchetti C,Ballabio A

更新日期：1999-09-01 00:00:00

abstract：:Human cystic fibrosis transmembrane conductance regulator (CFTR) was expressed in transgenic mice under the control of transcriptional elements derived from the human surfactant protein C (SP-C) gene. The hCFTR mRNA was expressed in lungs and testes: in the lung, we found hCFTR mRNA in bronchiolar and alveolar epithel...

journal_title：Nature genetics

authors： Whitsett JA,Dey CR,Stripp BR,Wikenheiser KA,Clark JC,Wert SE,Gregory RJ,Smith AE,Cohn JA,Wilson JM

更新日期：1992-09-01 00:00:00

abstract：:Congenic breeding strategies are becoming increasingly important as a greater number of complex trait linkages are identified. Traditionally, the development of a congenic strain has been a time-consuming endeavour, requiring ten generations of backcrosses. The recent advent of a dense molecular genetic map of the mou...

journal_title：Nature genetics

authors： Markel P,Shu P,Ebeling C,Carlson GA,Nagle DL,Smutko JS,Moore KJ

更新日期：1997-11-01 00:00:00

abstract：:We present a new statistical test of association between a trait and genetic markers, which we theoretically and practically prove to be robust to arbitrarily complex population structure. The statistical test involves a set of parameters that can be directly estimated from large-scale genotyping data, such as those m...

journal_title：Nature genetics

authors： Song M,Hao W,Storey JD

更新日期：2015-05-01 00:00:00

abstract：:Both polygenicity (many small genetic effects) and confounding biases, such as cryptic relatedness and population stratification, can yield an inflated distribution of test statistics in genome-wide association studies (GWAS). However, current methods cannot distinguish between inflation from a true polygenic signal a...

journal_title：Nature genetics

authors： Bulik-Sullivan BK,Loh PR,Finucane HK,Ripke S,Yang J,Schizophrenia Working Group of the Psychiatric Genomics Consortium.,Patterson N,Daly MJ,Price AL,Neale BM

更新日期：2015-03-01 00:00:00

abstract：:Several studies have implicated Wnt signalling in primary axis formation during vertebrate embryogenesis, yet no Wnt protein has been shown to be essential for this process. In the mouse, primitive streak formation is the first overt morphological sign of the anterior-posterior axis. Here we show that Wnt3 is expresse...

journal_title：Nature genetics

authors： Liu P,Wakamiya M,Shea MJ,Albrecht U,Behringer RR,Bradley A

更新日期：1999-08-01 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：:Oligonucleotide microarray (DNA chip)-based hybridization analysis is a promising new technology which potentially allows rapid and cost-effective screens for all possible mutations and sequence variations in genomic DNA. Here, I review current strategies and uses for DNA chip-based resequencing and mutational analysi...

journal_title：Nature genetics

authors： Hacia JG

更新日期：1999-01-01 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：:CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN. Here we describe a previously unreported X-linked brain malformation syndrome caused by mutations of CASK. All five affected individuals with CAS...

journal_title：Nature genetics

authors： Najm J,Horn D,Wimplinger I,Golden JA,Chizhikov VV,Sudi J,Christian SL,Ullmann R,Kuechler A,Haas CA,Flubacher A,Charnas LR,Uyanik G,Frank U,Klopocki E,Dobyns WB,Kutsche K

更新日期：2008-09-01 00:00:00

abstract：:Aniridia is an inherited ocular disorder of variable expressivity characterized by iris hypoplasia. A candidate aniridia gene, AN, which is the human homologue of the mouse Pax-6 gene, has recently been isolated by positional cloning from the WAGR region of 11p13. Here we describe mutations in this gene in two cases o...

journal_title：Nature genetics

authors： Jordan T,Hanson I,Zaletayev D,Hodgson S,Prosser J,Seawright A,Hastie N,van Heyningen V

更新日期：1992-08-01 00:00:00

abstract：:The Drosophila melanogaster gene Dscam is essential for axon guidance and has 38,016 possible alternative splice forms. This diversity can potentially be used to distinguish cells. We analyzed the Dscam mRNA isoforms expressed by different cell types and individual cells. The choice of splice variants expressed is reg...

journal_title：Nature genetics

authors： Neves G,Zucker J,Daly M,Chess A

更新日期：2004-03-01 00:00:00

abstract：:The plant circadian clock is a complex network of genes crucial for plant survival. A new study finds that domestication gradually slowed down the circadian clock of tomato via selection on two major genes-one that delayed phasing of the clock with daylight, whereas the other induced a longer period. ...

journal_title：Nature genetics

authors： Kay SA,Remigereau MS

更新日期：2016-01-01 00:00:00

abstract：:The lifespan of Caenorhabditis elegans is regulated by the insulin/insulin-like growth factor (IGF)-1 receptor homolog DAF-2, which signals through a conserved phosphatidylinositol 3-kinase (PI 3-kinase)/Akt pathway. Mutants in this pathway remain youthful and active much longer than normal animals and can live more t...

journal_title：Nature genetics

authors： Lin K,Hsin H,Libina N,Kenyon C

更新日期：2001-06-01 00:00:00

abstract：:Cold induces expression of a number of genes that encode proteins that enhance tolerance to freezing temperatures in plants. A cis-acting element responsive to cold and drought, the C-repeat/dehydration-responsive element (C/DRE), was identified in the Arabidopsis thaliana stress-inducible genes RD29A and COR15a and f...

journal_title：Nature genetics

authors： Kim HJ,Hyun Y,Park JY,Park MJ,Park MK,Kim MD,Kim HJ,Lee MH,Moon J,Lee I,Kim J

更新日期：2004-02-01 00:00:00

abstract：:Perturbations to mammalian SWI/SNF (mSWI/SNF or BAF) complexes contribute to more than 20% of human cancers, with driving roles first identified in malignant rhabdoid tumor, an aggressive pediatric cancer characterized by biallelic inactivation of the core BAF complex subunit SMARCB1 (BAF47). However, the mechanism by...

journal_title：Nature genetics

authors： Nakayama RT,Pulice JL,Valencia AM,McBride MJ,McKenzie ZM,Gillespie MA,Ku WL,Teng M,Cui K,Williams RT,Cassel SH,Qing H,Widmer CJ,Demetri GD,Irizarry RA,Zhao K,Ranish JA,Kadoch C

更新日期：2017-11-01 00:00:00

abstract：:The eighth annual Human Genome Variation Meeting was held in September 2006 in the Hong Kong Special Administrative Region, China. The meeting highlighted recent advances in characterization of genetic variation, including genome-wide association studies and structural variation. ...

journal_title：Nature genetics

authors： Abecasis G,Tam PK,Bustamante CD,Ostrander EA,Scherer SW,Chanock SJ,Kwok PY,Brookes AJ

更新日期：2007-02-01 00:00:00

abstract：:A recessive mutation in the tub gene causes obesity, deafness and retinal degeneration in tubby mice. The tub gene is a member of a family of tubby-like genes (TULPs) that encode proteins of unknown function. Members of this family have been identified in plants, vertebrates and invertebrates. The TULP proteins share ...

journal_title：Nature genetics

authors： Hagstrom SA,North MA,Nishina PL,Berson EL,Dryja TP

更新日期：1998-02-01 00:00:00