Abstract:
:X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal disorder characterized by night blindness, decreased visual acuity, myopia, nystagmus and strabismus. Two distinct clinical entities of X-linked CSNB have been proposed. Patients with complete CSNB show moderate to severe myopia, undetectable rod function and a normal cone response, whereas patients with incomplete CSNB show moderate myopia to hyperopia and subnormal but measurable rod and cone function. The electrophysiological and psychophysical features of these clinical entities suggest a defect in retinal neurotransmission. The apparent clinical heterogeneity in X-linked CSNB reflects the recently described genetic heterogeneity in which the locus for complete CSNB (CSNB1) was mapped to Xp11.4, and the locus for incomplete CSNB (CSNB2) was refined within Xp11.23 (ref. 5). A novel retina-specific gene mapping to the CSNB2 minimal region was characterized and found to have similarity to voltage-gated L-type calcium channel alpha1-subunit genes. Mutation analysis of this new alpha1-subunit gene, CACNA1F, in 20 families with incomplete CSNB revealed six different mutations that are all predicted to cause premature protein truncation. These findings establish that loss-of-function mutations in CACNA1F cause incomplete CSNB, making this disorder an example of a human channelopathy of the retina.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Bech-Hansen NT,Naylor MJ,Maybaum TA,Pearce WG,Koop B,Fishman GA,Mets M,Musarella MA,Boycott KMdoi
10.1038/947subject
Has Abstractpub_date
1998-07-01 00:00:00pages
264-7issue
3eissn
1061-4036issn
1546-1718journal_volume
19pub_type
杂志文章相关文献
NATURE GENETICS文献大全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
pub_type: 杂志文章
doi:10.1038/85922
更新日期:2001-03-01 00:00:00
abstract::A genome-wide study of fasting insulin, HDL cholesterol and triglycerides, designed to depict insulin resistance, identified 53 independent loci associated with a limited capacity to store fat in a healthy way. The increased power of this multitrait approach provides insights into an otherwise difficult-to-grasp pheno...
journal_title:Nature genetics
pub_type: 评论,杂志文章
doi:10.1038/ng.3758
更新日期:2016-12-28 00:00:00
abstract::Ocular retardation (or) is a murine eye mutation causing microphthalmia, a thin hypocellular retina and optic nerve aplasia. Here we show that mice carrying the OrJ allele have a premature stop codon in the homeobox of the Chx10 gene, a gene expressed at high levels in uncommitted retinal progenitor cells and mature b...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0496-376
更新日期:1996-04-01 00:00:00
abstract::Comparative genomic analyses of primary tumors and metastases within individuals with pancreatic cancer have exposed the complex clonal dynamics that underlie the dissemination of cancer cells to distant sites. Recent studies implicate non-genetic mechanisms in this process, particularly fluctuations in chromatin stat...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3798
更新日期:2017-02-24 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
pub_type: 杂志文章
doi:10.1038/ng994
更新日期:2002-10-01 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
pub_type: 评论,杂志文章
doi:10.1038/84728
更新日期:2001-02-01 00:00:00
abstract::The histone variant H3.3 is enriched at enhancers and active genes, as well as repeat regions such as telomeres and retroelements, in mouse embryonic stem cells (mESCs)1-3. Although recent studies demonstrate a role for H3.3 and its chaperones in establishing heterochromatin at repeat regions4-8, the function of H3.3 ...
journal_title:Nature genetics
pub_type: 信件
doi:10.1038/s41588-019-0428-5
更新日期:2019-06-01 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
pub_type: 杂志文章
doi:10.1038/7727
更新日期:1999-04-01 00:00:00
abstract::The L1 retrotransposon has had an immense impact on the size and structure of the human genome through a variety of mechanisms, including insertional mutagenesis. To study retrotransposition in a living organism, we created a mouse model of human L1 retrotransposition. Here we show that L1 elements can retrotranspose ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1022
更新日期:2002-12-01 00:00:00
abstract::Here we report an integrated analysis that leverages data from treatment of genetic mouse models of prostate cancer along with clinical data from patients to elucidate new mechanisms of castration resistance. We show that castration counteracts tumor progression in a Pten loss-driven mouse model of prostate cancer thr...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2650
更新日期:2013-07-01 00:00:00
abstract::Current efforts in cellular disease modeling and regenerative medicine are limited by the paucity of cell types that can be generated in the laboratory. A new study introduces a computational framework, Mogrify, that uses network biology to predict combinations of transcription factors necessary for direct conversion ...
journal_title:Nature genetics
pub_type: 评论,新闻
doi:10.1038/ng.3516
更新日期:2016-03-01 00:00:00
abstract::Individuals with hereditary hemochromatosis suffer from systemic iron overload due to duodenal hyperabsorption. Most cases arise from a founder mutation in HFE (845G-->A; ref. 2) that results in the amino-acid substitution C282Y and prevents the association of HFE with beta2-microglobulin. Mice homozygous with respect...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1152
更新日期:2003-05-01 00:00:00
abstract::A major challenge in inflammatory bowel disease (IBD) is the integration of diverse IBD data sets to construct predictive models of IBD. We present a predictive model of the immune component of IBD that informs causal relationships among loci previously linked to IBD through genome-wide association studies (GWAS) usin...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3947
更新日期:2017-10-01 00:00:00
abstract::Distal hereditary motor neuropathy (dHMN) or distal spinal muscular atrophy (OMIM #182960) is a heterogeneous group of disorders characterized by an almost exclusive degeneration of motor nerve fibers, predominantly in the distal part of the limbs. Silver syndrome (OMIM #270685) is a rare form of hereditary spastic pa...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1313
更新日期:2004-03-01 00:00:00
abstract::Variation for metabolite composition and content is often observed in plants. However, it is poorly understood to what extent this variation has a genetic basis. Here, we describe the genetic analysis of natural variation in the metabolite composition in Arabidopsis thaliana. Instead of focusing on specific metabolite...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1815
更新日期:2006-07-01 00:00:00
abstract::The breast cancer risk variants identified in genome-wide association studies explain only a small fraction of the familial relative risk, and the genes responsible for these associations remain largely unknown. To identify novel risk loci and likely causal genes, we performed a transcriptome-wide association study ev...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-018-0132-x
更新日期:2018-07-01 00:00:00
abstract::There is increasing evidence showing that the stromal cells surrounding cancer epithelial cells, rather than being passive bystanders, might have a role in modifying tumor outgrowth. The molecular basis of this aspect of carcinoma etiology is controversial. Some studies have reported a high frequency of genetic aberra...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.117
更新日期:2008-05-01 00:00:00
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 ge...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng914
更新日期:2002-08-01 00:00:00
abstract::We sequenced eight melanoma exomes to identify new somatic mutations in metastatic melanoma. Focusing on the mitogen-activated protein (MAP) kinase kinase kinase (MAP3K) family, we found that 24% of melanoma cell lines have mutations in the protein-coding regions of either MAP3K5 or MAP3K9. Structural modeling predict...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.1041
更新日期:2011-12-25 00:00:00
abstract::The progressive familial intrahepatic cholestases (PFIC) are a group of inherited disorders with severe cholestatic liver disease from early infancy. A subgroup characterized by normal serum cholesterol and gamma-glutamyltranspeptidase (gammaGT) levels is genetically heterogeneous with loci on chromosomes 2q (PFIC2) a...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/3034
更新日期:1998-11-01 00:00:00
abstract::Because only a small fraction of asbestos-exposed individuals develop malignant mesothelioma, and because mesothelioma clustering is observed in some families, we searched for genetic predisposing factors. We discovered germline mutations in the gene encoding BRCA1 associated protein-1 (BAP1) in two families with a hi...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.912
更新日期:2011-08-28 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
pub_type: 杂志文章
doi:10.1038/15496
更新日期:1999-11-01 00:00:00
abstract:: ...
journal_title:Nature genetics
pub_type: 评论,杂志文章
doi:10.1038/s41588-018-0317-3
更新日期:2019-01-01 00:00:00
abstract::Pheromones elicit specific behavioural responses and physiological alterations in recipients of the same species. In mammals, these chemical signals are recognized within the nasal cavity by sensory neurons that express pheromone receptors. In rodents, these receptors are thought to be represented by two large multige...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/79124
更新日期:2000-09-01 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
pub_type: 杂志文章,评审
doi:10.1038/ng1202-569
更新日期:2002-12-01 00:00:00
abstract::Comparisons of chromosome X and the autosomes can illuminate differences in the histories of males and females as well as shed light on the forces of natural selection. We compared the patterns of variation in these parts of the genome using two datasets that we assembled for this study that are both genomic in scale....
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.303
更新日期:2009-01-01 00:00:00
abstract::We have found that the imprinted H19 gene can be expressed either biallelically or monoallelically in the developing human placentae. H19 biallelic expression is confined to the placenta until 10 weeks of gestation, after which it becomes exclusively maternal, and does not affect allele-specificity or levels of IGF2 e...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0795-318
更新日期:1995-07-01 00:00:00
abstract::SNP genotyping has emerged as a technology to incorporate copy number variants (CNVs) into genetic analyses of human traits. However, the extent to which SNP platforms accurately capture CNVs remains unclear. Using independent, sequence-based CNV maps, we find that commonly used SNP platforms have limited or no probe ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.236
更新日期:2008-10-01 00:00:00
abstract::Retinitis pigmentosa is an untreatable, inherited retinal disease that leads to blindness. The disease initiates with the loss of night vision due to rod photoreceptor degeneration, followed by irreversible, progressive loss of cone photoreceptor. Cone loss is responsible for the main visual handicap, as cones are ess...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1386
更新日期:2004-07-01 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