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 transcription activator, Pit-1/GHF-1 (designated PIT1 in humans for pituitary specific factor 1). This is the first report in humans of a defect in a transcription activator causing deficiency of multiple target genes.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Tatsumi K,Miyai K,Notomi T,Kaibe K,Amino N,Mizuno Y,Kohno Hdoi
10.1038/ng0492-56keywords:
subject
Has Abstractpub_date
1992-04-01 00:00:00pages
56-8issue
1eissn
1061-4036issn
1546-1718journal_volume
1pub_type
杂志文章相关文献
NATURE GENETICS文献大全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
pub_type: 杂志文章
doi:10.1038/ng0892-328
更新日期:1992-08-01 00:00:00
abstract::Integrity of the blood vessel wall is essential for vascular homeostasis and organ function. A dynamic balance between endothelial cell survival and apoptosis contributes to this integrity during vascular development and pathological angiogenesis. The genetic and molecular mechanisms regulating these processes in vivo...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2007.8
更新日期:2007-11-01 00:00:00
abstract::Walker-Warburg syndrome (WWS) is clinically defined as congenital muscular dystrophy that is accompanied by a variety of brain and eye malformations. It represents the most severe clinical phenotype in a spectrum of diseases associated with abnormal post-translational processing of a-dystroglycan that share a defect i...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2252
更新日期:2012-05-01 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
pub_type: 杂志文章
doi:10.1038/ng0994-33
更新日期:1994-09-01 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::We carried out whole-genome homozygosity mapping, gene expression analysis and DNA sequencing in individuals with isolated mitochondrial ATP synthase deficiency and identified disease-causing mutations in TMEM70. Complementation of the cell lines of these individuals with wild-type TMEM70 restored biogenesis and metab...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.246
更新日期:2008-11-01 00:00:00
abstract::Expansion of trinucleotide repeats can give rise to genetic disease. We have developed a technique, repeat expansion detection (RED), that can identify potentially pathological repeat expansion without prior knowledge of chromosomal location. Human genomic DNA is used as a template for a two-step cycling process that ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0693-135
更新日期:1993-06-01 00:00:00
abstract::Using transgenic mice expressing human cystatin C (encoded by CST3), we show that cystatin C binds soluble amyloid-beta peptide and inhibits cerebral amyloid deposition in amyloid-beta precursor protein (APP) transgenic mice. Cystatin C expression twice that of the endogenous mouse cystatin C was sufficient to substan...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2007.29
更新日期:2007-12-01 00:00:00
abstract::Aggregate results from genome-wide association studies (GWAS), such as genotype frequencies for cases and controls, were until recently often made available on public websites because they were thought to disclose negligible information concerning an individual's participation in a study. Homer et al. recently suggest...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.455
更新日期:2009-11-01 00:00:00
abstract::Methylation of DNA at the dinucleotide CpG is essential for mammalian development and is correlated with stable transcriptional silencing. This transcriptional silencing has recently been linked at a molecular level to histone deacetylation through the demonstration of a physical association between histone deacetylas...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/12664
更新日期:1999-09-01 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
pub_type: 杂志文章
doi:10.1038/84848
更新日期:2001-02-01 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::We report that mutation in the gene for plectin, a cytoskeleton-membrane anchorage protein, is a cause of autosomal recessive muscular dystrophy associated with skin blistering (epidermolysis bullosa simplex). The evidence comes from absence of plectin by antibody staining in affected individuals from four families, s...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0896-450
更新日期:1996-08-01 00:00:00
abstract::Although Burkitt lymphomas and follicular lymphomas both have features of germinal center B cells, they are biologically and clinically quite distinct. Here we performed whole-genome bisulfite, genome and transcriptome sequencing in 13 IG-MYC translocation-positive Burkitt lymphoma, nine BCL2 translocation-positive fo...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3413
更新日期:2015-11-01 00:00:00
abstract::A new study has identified rare de novo mutations in SHANK2 in individuals with autism and/or mental retardation. SHANK2 encodes a scaffolding protein present in excitatory synapses. This finding sheds some light on the pathophysiology of social and cognitive disability. ...
journal_title:Nature genetics
pub_type: 评论,新闻
doi:10.1038/ng0610-478
更新日期:2010-06-01 00:00:00
abstract::We conducted a genome-wide association study on 969 bladder cancer cases and 957 controls from Texas. For fast-track validation, we evaluated 60 SNPs in three additional US populations and validated the top SNP in nine European populations. A missense variant (rs2294008) in the PSCA gene showed consistent association ...
journal_title:Nature genetics
pub_type: 信件
doi:10.1038/ng.421
更新日期:2009-09-01 00:00:00
abstract::The mitochondrial (mt) DNA depletion syndromes (MDDS) are genetic disorders characterized by a severe, tissue-specific decrease of mtDNA copy number, leading to organ failure. There are two main clinical presentations: myopathic (OMIM 609560) and hepatocerebral (OMIM 251880). Known mutant genes, including TK2, SUCLA2,...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1765
更新日期:2006-05-01 00:00:00
abstract::Somatic rearrangements contribute to the mutagenized landscape of cancer genomes. Here, we systematically interrogated rearrangements in 560 breast cancers by using a piecewise constant fitting approach. We identified 33 hotspots of large (>100 kb) tandem duplications, a mutational signature associated with homologous...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3771
更新日期:2017-03-01 00:00:00
abstract::Follicle stimulating hormone (FSH) is a member of the glycoprotein hormone family that includes luteinzing hormone (LH), thyroid stimulating hormone, and chorionic gonadotropin. These heterodimeric hormones share a common alpha subunit and differ in their hormone-specific beta subunit. The biological activity is confe...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0297-201
更新日期:1997-02-01 00:00:00
abstract::Genetic studies of complex traits have mainly identified associations with noncoding variants. To further determine the contribution of regulatory variation, we combined whole-genome and transcriptome data for 624 individuals from Sardinia to identify common and rare variants that influence gene expression and splicin...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3840
更新日期:2017-05-01 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
pub_type: 杂志文章
doi:10.1038/88850
更新日期:2001-06-01 00:00:00
abstract::Detailed analyses of the clone-based genome assembly reveal that the recent duplication content of mouse (4.94%) is now comparable to that of human (5.5%), in contrast to previous estimates from the whole-genome shotgun sequence assembly. However, the architecture of mouse and human genomes differs markedly: most mous...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.172
更新日期:2008-07-01 00:00:00
abstract::The apolipoprotein E (APOE) E4 allele is associated with Alzheimer's disease, cardiovascular disease, and decreased longevity. To probe the mechanism of these associations, cell lines were created which secrete each apoE isoform. ApoE conditioned media, purified apoE, and commercially obtained apoE protected B12 cells...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0996-55
更新日期:1996-09-01 00:00:00
abstract::Follicular lymphoma (FL) and the GCB subtype of diffuse large B-cell lymphoma (DLBCL) derive from germinal center B cells. Targeted resequencing studies have revealed mutations in various genes encoding proteins in the NF-kappaB pathway that contribute to the activated B-cell (ABC) DLBCL subtype, but thus far few GCB-...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.518
更新日期:2010-02-01 00:00:00
abstract::In a study of human diversity at a highly variable locus, we have mapped the internal structures of tandem-repetitive alleles from different populations at the minisatellite MS205 (D16S309). The results give an unusually detailed view of the different allelic structures represented on modern human chromosomes, and of ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0696-154
更新日期:1996-06-01 00:00:00
abstract::Haematopoietic development is regulated by nuclear protein complexes that coordinate lineage-specific patterns of gene expression. Targeted mutagenesis in embryonic stem cells and mice has revealed roles for the X-linked gene Gata1 in erythrocyte and megakaryocyte differentiation. GATA-1 is the founding member of a fa...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/73480
更新日期:2000-03-01 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
pub_type: 杂志文章
doi:10.1038/ng0495-424
更新日期:1995-04-01 00:00:00
abstract::Plants intimately associate with diverse bacteria. Plant-associated bacteria have ostensibly evolved genes that enable them to adapt to plant environments. However, the identities of such genes are mostly unknown, and their functions are poorly characterized. We sequenced 484 genomes of bacterial isolates from roots o...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-017-0012-9
更新日期:2017-12-18 00:00:00
abstract::Genome-wide association studies (GWAS) have identified four susceptibility loci for epithelial ovarian cancer (EOC), with another two suggestive loci reaching near genome-wide significance. We pooled data from a GWAS conducted in North America with another GWAS from the UK. We selected the top 24,551 SNPs for inclusio...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2564
更新日期:2013-04-01 00:00:00
abstract::Distal enhancers play pivotal roles in development and disease yet remain one of the least understood regulatory elements. We used massively parallel reporter assays to perform functional comparisons of two leading enhancer models and find that gene-distal transcription start sites are robust predictors of active enha...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-020-0686-2
更新日期:2020-10-01 00:00:00