Abstract:
:Urocortin is a member of the corticotropin-releasing hormone peptide family and is found in many discrete brain regions. The distinct expression pattern of urocortin suggests that it influences such behaviors as feeding, anxiety and auditory processing. To better define the physiological roles of urocortin, we have generated mice carrying a null mutation of the urocortin gene. Urocortin-deficient mice have normal basal feeding behavior and stress responses, but show heightened anxiety-like behaviors in the elevated plus maze and open-field tests. In addition, hearing is impaired in the mutant mice at the level of the inner ear, suggesting that urocortin is involved in the normal development of cochlear sensory-cell function. These results provide the first example of a function for any peptidergic system in hearing.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Vetter DE,Li C,Zhao L,Contarino A,Liberman MC,Smith GW,Marchuk Y,Koob GF,Heinemann SF,Vale W,Lee KFdoi
10.1038/ng914keywords:
subject
Has Abstractpub_date
2002-08-01 00:00:00pages
363-9issue
4eissn
1061-4036issn
1546-1718pii
ng914journal_volume
31pub_type
杂志文章相关文献
NATURE GENETICS文献大全abstract::Genome-wide association scans of complex multipartite traits like the human face typically use preselected phenotypic measures. Here we report a data-driven approach to phenotyping facial shape at multiple levels of organization, allowing for an open-ended description of facial variation while preserving statistical p...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-018-0057-4
更新日期:2018-03-01 00:00:00
abstract::Errors in meiotic chromosome segregation are the leading cause of spontaneous abortions and birth defects. In humans, chromosomes that fail to experience crossovers (or exchanges) are error-prone, more likely than exchange chromosomes to mis-segregate in meiosis. We used a yeast model to investigate the mechanisms tha...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1588
更新日期:2005-07-01 00:00:00
abstract::An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...
journal_title:Nature genetics
pub_type: 已发布勘误
doi:10.1038/s41588-020-00711-z
更新日期:2020-11-01 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
pub_type: 杂志文章
doi:10.1038/85845
更新日期:2001-03-01 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
pub_type: 杂志文章
doi:10.1038/ng798
更新日期:2002-01-01 00:00:00
abstract::We recently mapped the disease locus for severe autosomal recessive lamellar ichthyosis (LI) to chromosome 14q11 and showed complete linkage with TGM1, the gene encoding transglutaminase 1. We have now identified point mutations in TGM1 in two of the multiplex LI families used in the linkage study. Each nucleotide cha...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0395-279
更新日期:1995-03-01 00:00:00
abstract::Studies in experimental systems have identified a multitude of mutational mechanisms including DNA replication infidelity and DNA damage followed by inefficient repair or replicative bypass. However, the relative contributions of these mechanisms to human germline mutation remain unknown. Here, we show that error-pron...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-018-0285-7
更新日期:2019-01-01 00:00:00
abstract::Targeting of cancer stem cells is believed to be essential for curative therapy of cancers, but supporting evidence is limited. Few selective target genes in cancer stem cells have been identified. Here we identify the arachidonate 5-lipoxygenase (5-LO) gene (Alox5) as a critical regulator for leukemia stem cells (LSC...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.389
更新日期:2009-07-01 00:00:00
abstract::To investigate the role of type X collagen in skeletal development, we have generated type X collagen-null mice. Surprisingly, mice without type X collagen were viable and fertile and had no gross abnormalities in long bone growth or development. No differences were detected between the type X collagen-null mice and c...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1094-129
更新日期:1994-10-01 00:00:00
abstract::Novel approaches to the structural and functional analysis of mammalian chromosomes would be possible if the gross structure of the chromosomes in living cells could be engineered. Controlled modifications can be engineered by conventional targeting techniques based on homologous recombination. Large but uncontrolled ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1292-283
更新日期:1992-12-01 00:00:00
abstract::Family, twin and adoption studies provide evidence for a substantial genetic component underlying individual differences in general intelligence, specific cognitive abilities and susceptibility to psychopathologies related to fear-inducing events. Contextual fear conditioning, which is highly conserved across species,...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1197-331
更新日期:1997-11-01 00:00:00
abstract::MASA syndrome is a recessive X-linked disorder characterized by mental retardation, adducted thumbs, shuffling gait, aphasia and, in some cases, hydrocephalus. Since it has been shown that X-linked hydrocephalus can be caused by mutations in L1CAM, a neuronal cell adhesion molecule, we performed an L1CAM mutation anal...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0794-408
更新日期:1994-07-01 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
pub_type: 杂志文章
doi:10.1038/ng1097-231
更新日期:1997-10-01 00:00:00
abstract::To identify genetic variants associated with birth weight, we meta-analyzed six genome-wide association (GWA) studies (n = 10,623 Europeans from pregnancy/birth cohorts) and followed up two lead signals in 13 replication studies (n = 27,591). rs900400 near LEKR1 and CCNL1 (P = 2 x 10(-35)) and rs9883204 in ADCY5 (P = ...
journal_title:Nature genetics
pub_type: 杂志文章,meta分析
doi:10.1038/ng.567
更新日期:2010-05-01 00:00:00
abstract::Autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a microvascular endotheliopathy with middle-age onset. In nine families, we identified heterozygous C-terminal frameshift mutations in TREX1, which encodes a 3'-5' exonuclease. These truncated proteins retain exonuclease activity but lose normal p...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng2082
更新日期:2007-09-01 00:00:00
abstract::c-Jun is a major component of the heterodimeric transcription factor AP-1 and is essential for embryonic development, as fetuses lacking Jun die at mid-gestation with impaired hepatogenesis and primary Jun-/- fibroblasts have a severe proliferation defect and undergo premature senescence in vitro. c-Jun and AP-1 activ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/6854
更新日期:1999-03-01 00:00:00
abstract::Impaired testicular descent (cryptorchidism) is one of the most frequent congenital abnormalities in humans, involving 2% of male births. Cryptorchidism can result in infertility and increases risk for development of germ-cell tumours. Testicular descent from abdomen to scrotum occurs in two distinct phases: the trans...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/10364
更新日期:1999-07-01 00:00:00
abstract::Charting differences between tumors and normal tissue is a mainstay of cancer research. However, clonal tumor expansion from complex normal tissue architectures potentially obscures cancer-specific events, including divergent epigenetic patterns. Using whole-genome bisulfite sequencing of normal B cell subsets, we obs...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3488
更新日期:2016-03-01 00:00:00
abstract::The tyrosine phosphatase Shp2 is recruited into tyrosine-kinase signalling pathways through binding of its two amino-terminal SH2 domains to specific phosphotyrosine motifs, concurrent with its re-localization and stimulation of phosphatase activity. Shp2 can potentiate signalling through the MAP-kinase pathway and is...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/74279
更新日期:2000-04-01 00:00:00
abstract::Bone mineral density (BMD) is the most widely used predictor of fracture risk. We performed the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 genome-wide association studies and 32,961 individuals of European and east Asian ancestry. We tested the top BMD-associated markers for repli...
journal_title:Nature genetics
pub_type: 杂志文章,meta分析
doi:10.1038/ng.2249
更新日期:2012-04-15 00:00:00
abstract::The Human Genome Project and its spin-offs are making it increasingly feasible to determine the genetic basis of complex traits using genome-wide association studies. The statistical challenge of analyzing such studies stems from the severe multiple-comparison problem resulting from the analysis of thousands of SNPs. ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1582
更新日期:2005-07-01 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
pub_type: 杂志文章
doi:10.1038/ng.975
更新日期:2011-10-23 00:00:00
abstract::Small nucleolar RNAs (snoRNAs) are conserved noncoding RNAs best studied as ribonucleoprotein (RNP) guides in RNA modification. To explore their role in cancer, we compared 5,473 tumor-normal genome pairs to identify snoRNAs with frequent copy number loss. The SNORD50A-SNORD50B snoRNA locus was deleted in 10-40% of 12...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3452
更新日期:2016-01-01 00:00:00
abstract::The three-dimensional organization of the genome has an important role in orchestrating gene expression, but its regulation is poorly understood. Now, a new study uncovers a major role for Polycomb components of the PRC1 complex in organizing physical networks of genes that are co-repressed to maintain pluripotency. ...
journal_title:Nature genetics
pub_type: 评论,新闻
doi:10.1038/ng.3411
更新日期:2015-10-01 00:00:00
abstract::Using next-generation sequencing of primary acute myeloid leukemia (AML) specimens, we identified to our knowledge the first unifying genetic network common to the two subgroups of KMT2A (MLL)-rearranged leukemia, namely having MLL fusions or partial tandem duplications. Within this network, we experimentally confirme...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3371
更新日期:2015-09-01 00:00:00
abstract::Beare-Stevenson cutis gyrata syndrome (MIM 123790) is an autosomal dominant condition characterized by the furrowed skin disorder of cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities and early death. Many of these features are char...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0896-492
更新日期:1996-08-01 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
pub_type: 杂志文章
doi:10.1038/ng.651
更新日期:2010-10-01 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
pub_type: 杂志文章
doi:10.1038/81613
更新日期:2000-11-01 00:00:00
abstract::By imposing a limit on the proliferative lifespan of most somatic cells, telomere erosion represents an innate mechanism for tumor suppression and may contribute to age-related disease. A detailed understanding of the pathways that link shortened telomeres to replicative senescence has been severely hindered by the in...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1084
更新日期:2003-02-01 00:00:00
abstract::Restless legs syndrome (RLS) is a frequent neurological disorder characterized by an imperative urge to move the legs during night, unpleasant sensation in the lower limbs, disturbed sleep and increased cardiovascular morbidity. In a genome-wide association study we found highly significant associations between RLS an...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng2099
更新日期:2007-08-01 00:00:00