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：: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：:Micro RNAs are a large family of noncoding RNAs of 21-22 nucleotides whose functions are generally unknown. Here a large subset of Drosophila micro RNAs is shown to be perfectly complementary to several classes of sequence motif previously demonstrated to mediate negative post-transcriptional regulation. These finding...

journal_title：Nature genetics

authors： Lai EC

更新日期：2002-04-01 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：:Green toads are common in the Palaearctic region, where they have differentiated into several taxa. The toads exist with variable amounts of ploidy, similar to other anuran species or reptiles. In vertebrate biology, the very rare occurrence of triploidy is coupled with infertility or unisexuality, or requires the coe...

journal_title：Nature genetics

authors： Stöck M,Lamatsch DK,Steinlein C,Epplen JT,Grosse WR,Hock R,Klapperstück T,Lampert KP,Scheer U,Schmid M,Schartl M

更新日期：2002-03-01 00:00:00

abstract：:Autosomal recessive polycystic kidney disease (ARPKD) is characterized by dilation of collecting ducts and by biliary dysgenesis and is an important cause of renal- and liver-related morbidity and mortality. Genetic analysis of a rat with recessive polycystic kidney disease revealed an orthologous relationship between...

journal_title：Nature genetics

authors： Ward CJ,Hogan MC,Rossetti S,Walker D,Sneddon T,Wang X,Kubly V,Cunningham JM,Bacallao R,Ishibashi M,Milliner DS,Torres VE,Harris PC

更新日期：2002-03-01 00:00:00

abstract：:Linkage disequilibrium (LD), the nonrandom occurrence of alleles in haplotypes, has long been of interest to population geneticists. Recently, the rapidly increasing availability of genomic polymorphism data has fueled interest in LD as a tool for fine-scale mapping, in particular for human disease loci. The chromosom...

journal_title：Nature genetics

authors： Nordborg M,Borevitz JO,Bergelson J,Berry CC,Chory J,Hagenblad J,Kreitman M,Maloof JN,Noyes T,Oefner PJ,Stahl EA,Weigel D

更新日期：2002-02-01 00:00:00

abstract：:We identified three distinct mutations and six mutant alleles in GDAP1 in three families with axonal Charcot-Marie-Tooth (CMT) neuropathy and vocal cord paresis, which were previously linked to the CMT4A locus on chromosome 8q21.1. These results establish the molecular etiology of CMT4A (MIM 214400) and suggest that i...

journal_title：Nature genetics

authors： Cuesta A,Pedrola L,Sevilla T,García-Planells J,Chumillas MJ,Mayordomo F,LeGuern E,Marín I,Vílchez JJ,Palau F

更新日期：2002-01-01 00:00:00

abstract：:Human endogenous retroviruses (HERVs), which are remnants of past retroviral infections of the germline cells of our ancestors, make up as much as 8% of the human genome and may even outnumber genes. Most HERVs seem to have entered the genome between 10 and 50 million years ago, and they comprise over 200 distinct gro...

journal_title：Nature genetics

authors： Hughes JF,Coffin JM

更新日期：2001-12-01 00:00:00

abstract：:Microarray analysis has become a widely used tool for the generation of gene expression data on a genomic scale. Although many significant results have been derived from microarray studies, one limitation has been the lack of standards for presenting and exchanging such data. Here we present a proposal, the Minimum In...

journal_title：Nature genetics

authors： Brazma A,Hingamp P,Quackenbush J,Sherlock G,Spellman P,Stoeckert C,Aach J,Ansorge W,Ball CA,Causton HC,Gaasterland T,Glenisson P,Holstege FC,Kim IF,Markowitz V,Matese JC,Parkinson H,Robinson A,Sarkans U,Schulze-Krem

更新日期：2001-12-01 00:00:00

abstract：:Variation of flowering time is found in the natural populations of many plant species. The underlying genetic variation, mostly of a quantitative nature, is presumed to reflect adaptations to different environments contributing to reproductive success. Analysis of natural variation for flowering time in Arabidopsis th...

journal_title：Nature genetics

authors： El-Din El-Assal S,Alonso-Blanco C,Peeters AJ,Raz V,Koornneef M

更新日期：2001-12-01 00:00:00

abstract：:Genomic and proteomic approaches can provide hypotheses concerning function for the large number of genes predicted from genome sequences. Because of the artificial nature of the assays, however, the information from these high-throughput approaches should be considered with caution. Although it is possible that more ...

journal_title：Nature genetics

authors： Ge H,Liu Z,Church GM,Vidal M

更新日期：2001-12-01 00:00:00

abstract：:Mitochondrial DNA (mtDNA)-depletion syndromes (MDS; OMIM 251880) are phenotypically heterogeneous, autosomal-recessive disorders characterized by tissue-specific reduction in mtDNA copy number. Affected individuals with the hepatocerebral form of MDS have early progressive liver failure and neurological abnormalities,...

journal_title：Nature genetics

authors： Mandel H,Szargel R,Labay V,Elpeleg O,Saada A,Shalata A,Anbinder Y,Berkowitz D,Hartman C,Barak M,Eriksson S,Cohen N

更新日期：2001-11-01 00:00:00

abstract：:The newly recognized ataxia-ocular apraxia 1 (AOA1; MIM 208920) is the most frequent cause of autosomal recessive ataxia in Japan and is second only to Friedreich ataxia in Portugal. It shares several neurological features with ataxia-telangiectasia, including early onset ataxia, oculomotor apraxia and cerebellar atro...

journal_title：Nature genetics

authors： Moreira MC,Barbot C,Tachi N,Kozuka N,Uchida E,Gibson T,Mendonça P,Costa M,Barros J,Yanagisawa T,Watanabe M,Ikeda Y,Aoki M,Nagata T,Coutinho P,Sequeiros J,Koenig M

更新日期：2001-10-01 00:00:00

abstract：:Little is known about the genetic regulation of medulloblastoma dissemination, but metastatic medulloblastoma is highly associated with poor outcome. We obtained expression profiles of 23 primary medulloblastomas clinically designated as either metastatic (M+) or non-metastatic (M0) and identified 85 genes whose expre...

journal_title：Nature genetics

authors： MacDonald TJ,Brown KM,LaFleur B,Peterson K,Lawlor C,Chen Y,Packer RJ,Cogen P,Stephan DA

更新日期：2001-10-01 00:00:00

abstract：:In mouse and man, deletions of specific regions of the Y chromosome have been linked to early failure of spermatogenesis and consequent sterility; the Y chromosomal gene(s) with this essential early role in spermatogenesis have not been identified. The partial deletion of the mouse Y short arm (the Sxrb deletion) that...

journal_title：Nature genetics

authors： Mazeyrat S,Saut N,Grigoriev V,Mahadevaiah SK,Ojarikre OA,Rattigan A,Bishop C,Eicher EM,Mitchell MJ,Burgoyne PS

更新日期：2001-09-01 00:00:00

abstract：:The p53 protein can inhibit cell cycling or induce apoptosis, and is thus a critical regulator of tumorigenesis. This protein is negatively regulated by a physical interaction with MDM2, an E3 ubiquitin ligase. This interaction is critical for cell viability; loss of Mdm2 causes cell death in vitro and in vivo in a p5...

journal_title：Nature genetics

authors： Parant J,Chavez-Reyes A,Little NA,Yan W,Reinke V,Jochemsen AG,Lozano G

更新日期：2001-09-01 00:00:00

abstract：:Accumulations of iron are often detected in the brains of people suffering from neurodegenerative diseases. But it is often not known whether such accumulations contribute directly to disease progression. The identification of the genes mutated in two such disorders suggests that errors in iron metabolism do indeed ha...

journal_title：Nature genetics

authors： Rouault TA

更新日期：2001-08-01 00:00:00

abstract：:Systemic lupus erythematosus (SLE) is a highly prevalent human autoimmune diseases that causes progressive glomerulonephritis, arthritis and an erythematoid rash. Mice deficient in deoxyribonuclease I (Dnase1) develop an SLE-like syndrome. Here we describe two patients with a heterozygous nonsense mutation in exon 2 o...

journal_title：Nature genetics

authors： Yasutomo K,Horiuchi T,Kagami S,Tsukamoto H,Hashimura C,Urushihara M,Kuroda Y

更新日期：2001-08-01 00:00:00

abstract：:Large-scale mutagenesis of the mouse genome is an essential task associated with the Human Genome Project. The two opposing schools of direct and reverse genetics have demonstrated comparable advantages, and yet large numbers of mutant lines have mostly been the prerogative of direct genetics. An improved gene-trappin...

journal_title：Nature genetics

authors： Jackson IJ

更新日期：2001-07-01 00:00:00

abstract：:Hereditary rippling muscle disease (RMD) is an autosomal dominant human disorder characterized by mechanically triggered contractions of skeletal muscle. Genome-wide linkage analysis has identified an RMD locus on chromosome 3p25. We found missense mutations in positional candidate CAV3 (encoding caveolin 3; ref. 5) i...

journal_title：Nature genetics

authors： Betz RC,Schoser BG,Kasper D,Ricker K,Ramírez A,Stein V,Torbergsen T,Lee YA,Nöthen MM,Wienker TF,Malin JP,Propping P,Reis A,Mortier W,Jentsch TJ,Vorgerd M,Kubisch C

更新日期：2001-07-01 00:00:00

abstract：:The cardiac homeobox protein Nkx2-5 is essential in cardiac development, and mutations in Csx (which encodes Nkx2-5) cause various congenital heart diseases. Using the yeast two-hybrid system with Nkx2-5 as the 'bait', we isolated the T-box-containing transcription factor Tbx5; mutations in TBX5 cause heart and limb m...

journal_title：Nature genetics

authors： Hiroi Y,Kudoh S,Monzen K,Ikeda Y,Yazaki Y,Nagai R,Komuro I

更新日期：2001-07-01 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：:Bardet-Biedl syndrome (BBS, MIM 209900) is a heterogeneous autosomal recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism. The disorder is also associated with diabetes mellitus, hypertension, and congenital heart disease. Six dis...

journal_title：Nature genetics

authors： Mykytyn K,Braun T,Carmi R,Haider NB,Searby CC,Shastri M,Beck G,Wright AF,Iannaccone A,Elbedour K,Riise R,Baldi A,Raas-Rothschild A,Gorman SW,Duhl DM,Jacobson SG,Casavant T,Stone EM,Sheffield VC

更新日期：2001-06-01 00:00:00

abstract：:We have carried out automated extraction of explicit and implicit biomedical knowledge from publicly available gene and text databases to create a gene-to-gene co-citation network for 13,712 named human genes by automated analysis of titles and abstracts in over 10 million MEDLINE records. The associations between gen...

journal_title：Nature genetics

authors： Jenssen TK,Laegreid A,Komorowski J,Hovig E

更新日期：2001-05-01 00:00:00

abstract：:Congenital disorders of glycosylation (CDG) comprise a rapidly growing group of inherited disorders in which glycosylation of glycoproteins is defective due to mutations in genes required for the assembly of lipid-linked oligosaccharides, their transfer to nascent glycoproteins (CDG-I) or the processing of protein-bou...

journal_title：Nature genetics

authors： Lübke T,Marquardt T,Etzioni A,Hartmann E,von Figura K,Körner C

更新日期：2001-05-01 00:00:00

abstract：:Loss of heterozygosity (LOH) of markers on human chromosome 7q31 is frequently encountered in a variety of human neoplasias, indicating the presence of a tumor-suppressor gene (TSG). By a combination of microcell-fusion and deletion-mapping studies, we previously established that this TSG resides within a critical reg...

journal_title：Nature genetics

authors： Zenklusen JC,Conti CJ,Green ED

更新日期：2001-04-01 00:00:00

abstract：:The DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a relatively common human disorder, usually associated with deletions of chromosome 22q11. The genetic basis for the wide range of developmental anomalies in the heart, glands and facial structures has been elusive. We have investigated the potential role of one can...

journal_title：Nature genetics

authors： Jerome LA,Papaioannou VE

更新日期：2001-03-01 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：:Dentinogenesis imperfecta (DGI) is characterized by discolored teeth with an opalescent sheen and dentin that fails to support enamel, causing it to easily chip. Two new studies show that DGI is associated with mutations in DSPP, a gene encoding dentin sialophosphoprotein that is processed into two proteins: dentin si...

journal_title：Nature genetics

authors： Patel P

更新日期：2001-02-01 00:00:00

abstract：:Manipulation or non-physiological embryo culture environments can lead to defective fetal programming in livestock. Our demonstration of reduced fetal methylation and expression of ovine IGF2R suggests pre-implantation embryo procedures may be vulnerable to epigenetic alterations in imprinted genes. This highlights th...

journal_title：Nature genetics

authors： Young LE,Fernandes K,McEvoy TG,Butterwith SC,Gutierrez CG,Carolan C,Broadbent PJ,Robinson JJ,Wilmut I,Sinclair KD

更新日期：2001-02-01 00:00:00

abstract：:Dentinogenesis imperfecta 1 (DGI1, MIM 125490) is an autosomal dominant dental disease characterized by abnormal dentin production and mineralization. The DGI1 locus was recently refined to a 2-Mb interval on 4q21 (ref. 1). Here we study three Chinese families carrying DGI1. We find that the affected individuals of tw...

journal_title：Nature genetics

authors： Xiao S,Yu C,Chou X,Yuan W,Wang Y,Bu L,Fu G,Qian M,Yang J,Shi Y,Hu L,Han B,Wang Z,Huang W,Liu J,Chen Z,Zhao G,Kong X

更新日期：2001-02-01 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：:The Escherichia coli gene recQ was identified as a RecF recombination pathway gene. The gene SGS1, encoding the only RecQ-like DNA helicase in Saccharomyces cerevisiae, was identified by mutations that suppress the top3 slow-growth phenotype. Relatively little is known about the function of Sgs1p because single mutati...

journal_title：Nature genetics

authors： Myung K,Datta A,Chen C,Kolodner RD

更新日期：2001-01-01 00:00:00

abstract：:The gene Ucp2 is a member of a family of genes found in animals and plants, encoding a protein homologous to the brown fat uncoupling protein Ucp1 (refs 1-3). As Ucp2 is widely expressed in mammalian tissues, uncouples respiration and resides within a region of genetic linkage to obesity, a role in energy dissipation ...

journal_title：Nature genetics

authors： Arsenijevic D,Onuma H,Pecqueur C,Raimbault S,Manning BS,Miroux B,Couplan E,Alves-Guerra MC,Goubern M,Surwit R,Bouillaud F,Richard D,Collins S,Ricquier D

更新日期：2000-12-01 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：:Nonchromaffin paragangliomas (PGLs) are usually benign, neural-crest-derived, slow-growing tumours of parasympathetic ganglia. Between 10% and 50% of cases are familial and are transmitted as autosomal dominant traits with incomplete and age-dependent penetrance. ...

journal_title：Nature genetics

authors： Niemann S,Müller U

更新日期：2000-11-01 00:00:00

abstract：:To test the hypothesis that the human genome project will uncover many genes not previously discovered by sequencing of expressed sequence tags (ESTs), we designed and produced a set of microarrays using probes based on open reading frames (ORFs) in 350 Mb of finished and draft human sequence. Our approach aims to ide...

journal_title：Nature genetics

authors： Penn SG,Rank DR,Hanzel DK,Barker DL

更新日期：2000-11-01 00:00:00

abstract：:Binary polymorphisms associated with the non-recombining region of the human Y chromosome (NRY) preserve the paternal genetic legacy of our species that has persisted to the present, permitting inference of human evolution, population affinity and demographic history. We used denaturing high-performance liquid chromat...

journal_title：Nature genetics

authors： Underhill PA,Shen P,Lin AA,Jin L,Passarino G,Yang WH,Kauffman E,Bonné-Tamir B,Bertranpetit J,Francalacci P,Ibrahim M,Jenkins T,Kidd JR,Mehdi SQ,Seielstad MT,Wells RS,Piazza A,Davis RW,Feldman MW,Cavalli-Sforza LL,

更新日期：2000-11-01 00:00:00

abstract：:The technology of modifying endogenous genes has recently been extended from mice to Drosophila and sheep. Concurrently, genomic sequencing is uncovering thousands of previously uncharacterized genes. Armed with today's technologies, what are our best options for delineating the functions of these new genes? ...

journal_title：Nature genetics

authors： Capecchi MR

更新日期：2000-10-01 00:00:00