Activating SRC mutation in a subset of advanced human colon cancers.

abstract：:The CRISPR-Cas9 system enables global screens of gene function with high sensitivity and specificity, but off-target effects have been reported for CRISPR guide RNAs targeting genes that are amplified at high copy number. A new study describes a computational approach to correct for this copy number effect, increasing...

journal_title：Nature genetics

authors： Shen JP,Ideker T

更新日期：2017-11-29 00:00:00

abstract：:Pancreatic cancer has the lowest survival rate among human cancers, and there are no effective markers for its screening and early diagnosis. To identify genetic susceptibility markers for this cancer, we carried out a genome-wide association study on 981 individuals with pancreatic cancer (cases) and 1,991 cancer-fre...

journal_title：Nature genetics

authors： Wu C,Miao X,Huang L,Che X,Jiang G,Yu D,Yang X,Cao G,Hu Z,Zhou Y,Zuo C,Wang C,Zhang X,Zhou Y,Yu X,Dai W,Li Z,Shen H,Liu L,Chen Y,Zhang S,Wang X,Zhai K,Chang J,Liu Y,Sun M,Cao W,Gao J,Ma Y,Zheng X

更新日期：2011-12-11 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：: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：:Chronic granulomatous disease (CGD) is a recessive disorder characterized by a defective phagocyte respiratory burst oxidase, life-threatening pyogenic infections and inflammatory granulomas. Gene targeting was used to generate mice with a null allele of the gene involved in X-linked CGD, which encodes the 91 kD subun...

journal_title：Nature genetics

authors： Pollock JD,Williams DA,Gifford MA,Li LL,Du X,Fisherman J,Orkin SH,Doerschuk CM,Dinauer MC

更新日期：1995-02-01 00:00:00

abstract：:The world's great wines are produced from a relatively small number of classic European cultivars of Vitis vinifera L Most are thought to be centuries old and their origins have long been the subject of speculation. Among the most prominent of these cultivars is Cabernet Sauvignon, described as "the world's most renow...

journal_title：Nature genetics

authors： Bowers JE,Meredith CP

更新日期：1997-05-01 00:00:00

abstract：:Deletions on human chromosome 8p22-23 in prostate cancer cells and linkage studies in families affected with hereditary prostate cancer (HPC) have implicated this region in the development of prostate cancer. The macrophage scavenger receptor 1 gene (MSR1, also known as SR-A) is located at 8p22 and functions in severa...

journal_title：Nature genetics

authors： Xu J,Zheng SL,Komiya A,Mychaleckyj JC,Isaacs SD,Hu JJ,Sterling D,Lange EM,Hawkins GA,Turner A,Ewing CM,Faith DA,Johnson JR,Suzuki H,Bujnovszky P,Wiley KE,DeMarzo AM,Bova GS,Chang B,Hall MC,McCullough DL,Partin A

更新日期：2002-10-01 00:00:00

abstract：:Acute promyelocytic leukaemia (APL), associated with chromosomal translocations involving the retinoic acid receptor alpha gene (RARA) and the PML gene, is sensitive to retinoic acid (RA) treatment, while APL patients harbouring translocations between RARA and the PLZF gene do not respond to RA. We have generated PML-...

journal_title：Nature genetics

authors： He LZ,Guidez F,Tribioli C,Peruzzi D,Ruthardt M,Zelent A,Pandolfi PP

更新日期：1998-02-01 00:00:00

abstract：:To ascertain the role of cyclin-dependent kinase 4 (Cdk4) in vivo, we have targeted the mouse Cdk4 locus by homologous recombination to generate two strains of mice, one that lacks Cdk4 expression and one that expresses a Cdk4 molecule with an activating mutation. Embryonic fibroblasts proliferate normally in the abse...

journal_title：Nature genetics

authors： Rane SG,Dubus P,Mettus RV,Galbreath EJ,Boden G,Reddy EP,Barbacid M

更新日期：1999-05-01 00:00:00

abstract：:Using homozygosity mapping and locus resequencing, we found that alterations in the homeodomain of the IRX5 transcription factor cause a recessive congenital disorder affecting face, brain, blood, heart, bone and gonad development. We found through in vivo modeling in Xenopus laevis embryos that Irx5 modulates the mig...

journal_title：Nature genetics

authors： Bonnard C,Strobl AC,Shboul M,Lee H,Merriman B,Nelson SF,Ababneh OH,Uz E,Güran T,Kayserili H,Hamamy H,Reversade B

更新日期：2012-05-13 00:00:00

abstract：:Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for obesity susceptibility, we examined associations between body mass index and ∼ 2.8 million SNPs in up to 123,865 individuals with targeted follow up of 42 SNPs in up to 125,931 ad...

journal_title：Nature genetics

authors： Speliotes EK,Willer CJ,Berndt SI,Monda KL,Thorleifsson G,Jackson AU,Lango Allen H,Lindgren CM,Luan J,Mägi R,Randall JC,Vedantam S,Winkler TW,Qi L,Workalemahu T,Heid IM,Steinthorsdottir V,Stringham HM,Weedon MN,Wheel

更新日期：2010-11-01 00:00:00

abstract：:The stress hormone-regulating hypothalamic-pituitary-adrenal (HPA) axis has been implicated in the causality as well as the treatment of depression. To investigate a possible association between genes regulating the HPA axis and response to antidepressants and susceptibility for depression, we genotyped single-nucleot...

journal_title：Nature genetics

authors： Binder EB,Salyakina D,Lichtner P,Wochnik GM,Ising M,Pütz B,Papiol S,Seaman S,Lucae S,Kohli MA,Nickel T,Künzel HE,Fuchs B,Majer M,Pfennig A,Kern N,Brunner J,Modell S,Baghai T,Deiml T,Zill P,Bondy B,Rupprecht R

更新日期：2004-12-01 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：:An earlier search in the human, mouse and rat genomes for sequences that are 100% conserved in orthologous segments and > or = 200 bp in length identified 481 distinct sequences. These human-mouse-rat sequences, which represent ultraconserved elements (UCEs), are believed to be important for functions involving DNA bi...

journal_title：Nature genetics

authors： Derti A,Roth FP,Church GM,Wu CT

更新日期：2006-10-01 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：: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：:High plasma concentrations of apolipoprotein (a) (apo(a)) have been implicated as a major independent risk factor for atherosclerosis in humans. Apo(a) is a large, evolutionarily new gene (present primarily in primates) for which considerable controversy exists concerning the factors that regulate its expression. To i...

journal_title：Nature genetics

authors： Frazer KA,Narla G,Zhang JL,Rubin EM

更新日期：1995-04-01 00:00:00

abstract：:A high-density haplotype map recently enabled a genome-wide association study (GWAS) in a population of indica subspecies of Chinese rice landraces. Here we extend this methodology to a larger and more diverse sample of 950 worldwide rice varieties, including the Oryza sativa indica and Oryza sativa japonica subspecie...

journal_title：Nature genetics

authors： Huang X,Zhao Y,Wei X,Li C,Wang A,Zhao Q,Li W,Guo Y,Deng L,Zhu C,Fan D,Lu Y,Weng Q,Liu K,Zhou T,Jing Y,Si L,Dong G,Huang T,Lu T,Feng Q,Qian Q,Li J,Han B

更新日期：2011-12-04 00:00:00

abstract：:Schwartz-Jampel syndrome (SJS1) is a rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal dysplasia, resulting in reduced stature, kyphoscoliosis, bowing of the diaphyses and irregular epiphyses. Electromyographic investigations reveal repetitive m...

journal_title：Nature genetics

authors： Nicole S,Davoine CS,Topaloglu H,Cattolico L,Barral D,Beighton P,Hamida CB,Hammouda H,Cruaud C,White PS,Samson D,Urtizberea JA,Lehmann-Horn F,Weissenbach J,Hentati F,Fontaine B

更新日期：2000-12-01 00:00:00

abstract：:The budding yeast Saccharomyces cerevisiae has been used by humans for millennia to make wine, beer and bread. More recently, it became a key model organism for studies of eukaryotic biology and for genomic analysis. However, relatively little is known about the natural lifestyle and population genetics of yeast. One ...

journal_title：Nature genetics

authors： Ruderfer DM,Pratt SC,Seidel HS,Kruglyak L

更新日期：2006-09-01 00:00:00

abstract：:All red/green colour vision defects described so far have been associated with gross rearrangements within the red/green opsin gene array (Xq28). We now describe a male with severe deuteranomaly without such a rearrangement. A substitution of a highly conserved cysteine by arginine at position 203 in the green opsins ...

journal_title：Nature genetics

authors： Winderickx J,Sanocki E,Lindsey DT,Teller DY,Motulsky AG,Deeb SS

更新日期：1992-07-01 00:00:00

abstract：:Long interspersed elements (LINE-1s) are abundant retrotransposons in mammalian genomes that probably retrotranspose by target site-primed reverse transcription (TPRT). During TPRT, the LINE-1 endonuclease cleaves genomic DNA, freeing a 3' hydroxyl that serves as a primer for reverse transcription of LINE-1 RNA by LIN...

journal_title：Nature genetics

authors： Morrish TA,Gilbert N,Myers JS,Vincent BJ,Stamato TD,Taccioli GE,Batzer MA,Moran JV

更新日期：2002-06-01 00:00:00

abstract：:Cystic echinococcosis (hydatid disease), caused by the tapeworm E. granulosus, is responsible for considerable human morbidity and mortality. This cosmopolitan disease is difficult to diagnose, treat and control. We present a draft genomic sequence for the worm comprising 151.6 Mb encoding 11,325 genes. Comparisons wi...

journal_title：Nature genetics

authors： Zheng H,Zhang W,Zhang L,Zhang Z,Li J,Lu G,Zhu Y,Wang Y,Huang Y,Liu J,Kang H,Chen J,Wang L,Chen A,Yu S,Gao Z,Jin L,Gu W,Wang Z,Zhao L,Shi B,Wen H,Lin R,Jones MK,Brejova B,Vinar T,Zhao G,McManus DP,C

更新日期：2013-10-01 00:00:00

abstract：:Schistosoma mansoni is the primary causative agent of schistosomiasis, which affects 200 million individuals in 74 countries. We generated 163,000 expressed-sequence tags (ESTs) from normalized cDNA libraries from six selected developmental stages of the parasite, resulting in 31,000 assembled sequences and 92% sampli...

journal_title：Nature genetics

authors： Verjovski-Almeida S,DeMarco R,Martins EA,Guimarães PE,Ojopi EP,Paquola AC,Piazza JP,Nishiyama MY Jr,Kitajima JP,Adamson RE,Ashton PD,Bonaldo MF,Coulson PS,Dillon GP,Farias LP,Gregorio SP,Ho PL,Leite RA,Malaquias LC,

更新日期：2003-10-01 00:00:00

abstract：:Jackson-Weiss syndrome is an autosomal dominant condition characterized by craniosynostosis, foot anomalies and great phenotypic variability. Recently mutations in fibroblast growth factor receptor 2 (FGFR2) have been found in patients with another craniosynostotic syndrome, Crouzon syndrome. FGFR2 is a member of the ...

journal_title：Nature genetics

authors： Jabs EW,Li X,Scott AF,Meyers G,Chen W,Eccles M,Mao JI,Charnas LR,Jackson CE,Jaye M

更新日期：1994-11-01 00:00:00

abstract：:Hearing impairment is the most commonly occurring condition that affects the ability of humans to communicate. More than 50% of the cases of profound early-onset deafness are caused by genetic factors. Over 40 loci for non-syndromic deafness have been genetically mapped, and mutations in several genes have been shown ...

journal_title：Nature genetics

authors： Xia JH,Liu CY,Tang BS,Pan Q,Huang L,Dai HP,Zhang BR,Xie W,Hu DX,Zheng D,Shi XL,Wang DA,Xia K,Yu KP,Liao XD,Feng Y,Yang YF,Xiao JY,Xie DH,Huang JZ

更新日期：1998-12-01 00:00:00

abstract：:Immunotherapy for metastatic colorectal cancer is effective only for mismatch repair-deficient tumors with high microsatellite instability that demonstrate immune infiltration, suggesting that tumor cells can determine their immune microenvironment. To understand this cross-talk, we analyzed the transcriptome of 91,10...

journal_title：Nature genetics

authors： Lee HO,Hong Y,Etlioglu HE,Cho YB,Pomella V,Van den Bosch B,Vanhecke J,Verbandt S,Hong H,Min JW,Kim N,Eum HH,Qian J,Boeckx B,Lambrechts D,Tsantoulis P,De Hertogh G,Chung W,Lee T,An M,Shin HT,Joung JG,Jung MH,

更新日期：2020-06-01 00:00:00

abstract：:UV-sensitive syndrome (UV(S)S) is a genodermatosis characterized by cutaneous photosensitivity without skin carcinoma. Despite mild clinical features, cells from individuals with UV(S)S, like Cockayne syndrome cells, are very UV sensitive and are deficient in transcription-coupled nucleotide-excision repair (TC-NER), ...

journal_title：Nature genetics

authors： Nakazawa Y,Sasaki K,Mitsutake N,Matsuse M,Shimada M,Nardo T,Takahashi Y,Ohyama K,Ito K,Mishima H,Nomura M,Kinoshita A,Ono S,Takenaka K,Masuyama R,Kudo T,Slor H,Utani A,Tateishi S,Yamashita S,Stefanini M,Lehmann

更新日期：2012-05-01 00:00:00

abstract：:Massively parallel sequencing technologies have identified a broad spectrum of human genome diversity. Here we deep sequenced and correlated 18 genomes and 17 transcriptomes of unrelated Korean individuals. This has allowed us to construct a genome-wide map of common and rare variants and also identify variants formed...

journal_title：Nature genetics

authors： Ju YS,Kim JI,Kim S,Hong D,Park H,Shin JY,Lee S,Lee WC,Kim S,Yu SB,Park SS,Seo SH,Yun JY,Kim HJ,Lee DS,Yavartanoo M,Kang HP,Gokcumen O,Govindaraju DR,Jung JH,Chong H,Yang KS,Kim H,Lee C,Seo JS

更新日期：2011-07-03 00:00:00

abstract：:The ratio of X-linked to autosomal diversity was estimated from an analysis of six human genome sequences and found to deviate from the expected value of 0.75. However, the direction of this deviation depends on whether a particular sequence is close to or far from the nearest gene. This pattern may be explained by st...

journal_title：Nature genetics

authors： Hammer MF,Woerner AE,Mendez FL,Watkins JC,Cox MP,Wall JD

更新日期：2010-10-01 00:00:00