Intracontinental spread of human invasive Salmonella Typhimurium pathovariants in sub-Saharan Africa.

abstract：:Deletions of the PAFAH1B1 gene (encoding LIS1) in 17p13.3 result in isolated lissencephaly sequence, and extended deletions including the YWHAE gene (encoding 14-3-3epsilon) cause Miller-Dieker syndrome. We identified seven unrelated individuals with submicroscopic duplication in 17p13.3 involving the PAFAH1B1 and/or ...

journal_title：Nature genetics

authors： Bi W,Sapir T,Shchelochkov OA,Zhang F,Withers MA,Hunter JV,Levy T,Shinder V,Peiffer DA,Gunderson KL,Nezarati MM,Shotts VA,Amato SS,Savage SK,Harris DJ,Day-Salvatore DL,Horner M,Lu XY,Sahoo T,Yanagawa Y,Beaudet AL,

更新日期：2009-02-01 00:00:00

abstract：:Loss of tight association between epidermis and dermis underlies several blistering disorders and is frequently caused by impaired function of extracellular matrix (ECM) proteins. Here we describe a new protein in mouse, Fras1, that is specifically detected in a linear fashion underlying the epidermis and the basal su...

journal_title：Nature genetics

authors： Vrontou S,Petrou P,Meyer BI,Galanopoulos VK,Imai K,Yanagi M,Chowdhury K,Scambler PJ,Chalepakis G

更新日期：2003-06-01 00:00:00

abstract：:Leber congenital amaurosis (LCA) is a blinding retinal disease that presents within the first year after birth. Using exome sequencing, we identified mutations in the nicotinamide adenine dinucleotide (NAD) synthase gene NMNAT1 encoding nicotinamide mononucleotide adenylyltransferase 1 in eight families with LCA, incl...

journal_title：Nature genetics

authors： Koenekoop RK,Wang H,Majewski J,Wang X,Lopez I,Ren H,Chen Y,Li Y,Fishman GA,Genead M,Schwartzentruber J,Solanki N,Traboulsi EI,Cheng J,Logan CV,McKibbin M,Hayward BE,Parry DA,Johnson CA,Nageeb M,Finding of Rare Dis

更新日期：2012-09-01 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：:Differences in three-dimensional (3D) chromatin architecture can influence the integrity of topologically associating domains (TADs) and rewire specific enhancer-promoter interactions, impacting gene expression and leading to human disease. Here we investigate the 3D chromatin architecture in T cell acute lymphoblasti...

journal_title：Nature genetics

authors： Kloetgen A,Thandapani P,Ntziachristos P,Ghebrechristos Y,Nomikou S,Lazaris C,Chen X,Hu H,Bakogianni S,Wang J,Fu Y,Boccalatte F,Zhong H,Paietta E,Trimarchi T,Zhu Y,Van Vlierberghe P,Inghirami GG,Lionnet T,Aifantis I

更新日期：2020-04-01 00:00:00

abstract：:Genetic studies of blood pressure (BP) to date have mainly analyzed common variants (minor allele frequency > 0.05). In a meta-analysis of up to ~1.3 million participants, we discovered 106 new BP-associated genomic regions and 87 rare (minor allele frequency ≤ 0.01) variant BP associations (P < 5 × 10-8), of which 32...

journal_title：Nature genetics

authors： Surendran P,Feofanova EV,Lahrouchi N,Ntalla I,Karthikeyan S,Cook J,Chen L,Mifsud B,Yao C,Kraja AT,Cartwright JH,Hellwege JN,Giri A,Tragante V,Thorleifsson G,Liu DJ,Prins BP,Stewart ID,Cabrera CP,Eales JM,Akbarov A

更新日期：2020-12-01 00:00:00

abstract：:Co-evolution between host and pathogen is, in principle, a powerful determinant of the biology and genetics of infection and disease. Yet co-evolution has proven difficult to demonstrate rigorously in practice, and co-evolutionary thinking is only just beginning to inform medical or veterinary research in any meaningf...

journal_title：Nature genetics

authors： Woolhouse ME,Webster JP,Domingo E,Charlesworth B,Levin BR

更新日期：2002-12-01 00:00:00

abstract：:Consistent but indirect evidence has implicated genetic factors in smoking behavior. We report meta-analyses of several smoking phenotypes within cohorts of the Tobacco and Genetics Consortium (n = 74,053). We also partnered with the European Network of Genetic and Genomic Epidemiology (ENGAGE) and Oxford-GlaxoSmithKl...

journal_title：Nature genetics

authors： Tobacco and Genetics Consortium.

更新日期：2010-05-01 00:00:00

abstract：:Myotonic dystrophy (DM) results from the amplification of an unstable CTG repeat in the 3' untranslated region of a transcript encoding a putative serine/threonine kinase. We have analysed the amplification of the repeat and the steady state levels of the DM kinase (DMK) mRNA in tissues and cell lines from normal and ...

journal_title：Nature genetics

authors： Sabouri LA,Mahadevan MS,Narang M,Lee DS,Surh LC,Korneluk RG

更新日期：1993-07-01 00:00:00

abstract：:Cells respond to stimuli by changes in various processes, including signaling pathways and gene expression. Efforts to identify components of these responses increasingly depend on mRNA profiling and genetic library screens. By comparing the results of these two assays across various stimuli, we found that genetic scr...

journal_title：Nature genetics

authors： Yeger-Lotem E,Riva L,Su LJ,Gitler AD,Cashikar AG,King OD,Auluck PK,Geddie ML,Valastyan JS,Karger DR,Lindquist S,Fraenkel E

更新日期：2009-03-01 00:00:00

abstract：:Altered growth and function of synoviocytes, the intimal cells which line joint cavities and tendon sheaths, occur in a number of skeletal diseases. Hyperplasia of synoviocytes is found in both rheumatoid arthritis and osteoarthritis, despite differences in the underlying aetiologies of the two disorders. We have stud...

journal_title：Nature genetics

authors： Marcelino J,Carpten JD,Suwairi WM,Gutierrez OM,Schwartz S,Robbins C,Sood R,Makalowska I,Baxevanis A,Johnstone B,Laxer RM,Zemel L,Kim CA,Herd JK,Ihle J,Williams C,Johnson M,Raman V,Alonso LG,Brunoni D,Gerstein A,

更新日期：1999-11-01 00:00:00

abstract：:Interindividual variability in drug response, ranging from no therapeutic benefit to life-threatening adverse reactions, is influenced by variation in genes that control the absorption, distribution, metabolism and excretion of drugs. We genotyped 904 single-nucleotide polymorphisms (SNPs) from 55 such genes in two po...

journal_title：Nature genetics

authors： Ahmadi KR,Weale ME,Xue ZY,Soranzo N,Yarnall DP,Briley JD,Maruyama Y,Kobayashi M,Wood NW,Spurr NK,Burns DK,Roses AD,Saunders AM,Goldstein DB

更新日期：2005-01-01 00:00:00

abstract：:Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) has recently been defined based on a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy. LBSL is an autosomal recessive disease, most often manifesting in early childho...

journal_title：Nature genetics

authors： Scheper GC,van der Klok T,van Andel RJ,van Berkel CG,Sissler M,Smet J,Muravina TI,Serkov SV,Uziel G,Bugiani M,Schiffmann R,Krägeloh-Mann I,Smeitink JA,Florentz C,Van Coster R,Pronk JC,van der Knaap MS

更新日期：2007-04-01 00:00:00

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：:Cretinism is marked by irreversible mental and growth retardation. We describe here an entirely new case of cretinism showing combined pituitary hormone deficiencies of thyrotropin, growth hormone and prolactin that appears to be caused by homozygosity for a nonsense mutation in the gene for the pituitary specific tra...

journal_title：Nature genetics

authors： Tatsumi K,Miyai K,Notomi T,Kaibe K,Amino N,Mizuno Y,Kohno H

更新日期：1992-04-01 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：:The degree to which genetic factors influence human intelligence remains a matter of some controversy. However, there is little doubt that single gene mutations can significantly alter brain development and function. For example, mutations affecting the FMR1 gene cause the fragile X syndrome, the most prevalent known ...

journal_title：Nature genetics

authors： Reiss AL,Freund LS,Baumgardner TL,Abrams MT,Denckla MB

更新日期：1995-11-01 00:00:00

abstract：:Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive disorder characterized by slowly progressing contractures, wasting of skeletal muscle and cardiomyopathy. Heart block is a frequent cause of death. The disease gene has been mapped to distal Xq28. Among many genes in this region, we selected eight trans...

journal_title：Nature genetics

authors： Bione S,Maestrini E,Rivella S,Mancini M,Regis S,Romeo G,Toniolo D

更新日期：1994-12-01 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：:Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis (Ollier and Maffucci diseases). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to chondrosarcoma. The extent of skeletal inv...

journal_title：Nature genetics

authors： Hopyan S,Gokgoz N,Poon R,Gensure RC,Yu C,Cole WG,Bell RS,Jüppner H,Andrulis IL,Wunder JS,Alman BA

更新日期：2002-03-01 00:00:00

abstract：:The conversion of lineage-committed cells to induced pluripotent stem cells (iPSCs) by reprogramming is accompanied by a global remodeling of the epigenome, resulting in altered patterns of gene expression. Here we characterize the transcriptional reorganization of large intergenic non-coding RNAs (lincRNAs) that occu...

journal_title：Nature genetics

authors： Loewer S,Cabili MN,Guttman M,Loh YH,Thomas K,Park IH,Garber M,Curran M,Onder T,Agarwal S,Manos PD,Datta S,Lander ES,Schlaeger TM,Daley GQ,Rinn JL

更新日期：2010-12-01 00:00:00

abstract：:Genome-wide analyses of human lung adenocarcinoma have identified regions of consistent copy-number gain or loss, but in many cases the oncogenes and tumor suppressors presumed to reside in these loci remain to be determined. Here we identify the downstream of tyrosine kinase (Dok) family members Dok1, Dok2 and Dok3 a...

journal_title：Nature genetics

authors： Berger AH,Niki M,Morotti A,Taylor BS,Socci ND,Viale A,Brennan C,Szoke J,Motoi N,Rothman PB,Teruya-Feldstein J,Gerald WL,Ladanyi M,Pandolfi PP

更新日期：2010-03-01 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：: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：:We report the first annotated chromosome-level reference genome assembly for pea, Gregor Mendel's original genetic model. Phylogenetics and paleogenomics show genomic rearrangements across legumes and suggest a major role for repetitive elements in pea genome evolution. Compared to other sequenced Leguminosae genomes,...

journal_title：Nature genetics

authors： Kreplak J,Madoui MA,Cápal P,Novák P,Labadie K,Aubert G,Bayer PE,Gali KK,Syme RA,Main D,Klein A,Bérard A,Vrbová I,Fournier C,d'Agata L,Belser C,Berrabah W,Toegelová H,Milec Z,Vrána J,Lee H,Kougbeadjo A,Térézol

更新日期：2019-09-01 00:00:00

abstract：:Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by expansion of a polyglutamine tract in ataxin-1. In affected neurons of SCA1 patients and transgenic mice, mutant ataxin-1 accumulates in a single, ubiquitin-positive nuclear inclusion. In this study, we show that these i...

journal_title：Nature genetics

authors： Cummings CJ,Mancini MA,Antalffy B,DeFranco DB,Orr HT,Zoghbi HY

更新日期：1998-06-01 00:00:00

abstract：:Monogenic causes of autoimmunity provide key insights into the complex regulation of the immune system. We report a new monogenic cause of autoimmunity resulting from de novo germline activating STAT3 mutations in five individuals with a spectrum of early-onset autoimmune disease, including type 1 diabetes. These find...

journal_title：Nature genetics

authors： Flanagan SE,Haapaniemi E,Russell MA,Caswell R,Allen HL,De Franco E,McDonald TJ,Rajala H,Ramelius A,Barton J,Heiskanen K,Heiskanen-Kosma T,Kajosaari M,Murphy NP,Milenkovic T,Seppänen M,Lernmark Å,Mustjoki S,Otonkoski T

更新日期：2014-08-01 00:00:00

abstract：:Plasma iron circulates bound to transferrin (Trf), which solubilizes the ferric ion and attenuates its reactivity. Diferric Trf interacts with cell-surface Trf receptor (Trfr) to undergo receptor-mediated endocytosis into specialized endosomes. Endosomal acidification leads to iron release, and iron is transported out...

journal_title：Nature genetics

authors： Levy JE,Jin O,Fujiwara Y,Kuo F,Andrews NC

更新日期：1999-04-01 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：: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