nagie oko, encoding a MAGUK-family protein, is essential for cellular patterning of the retina.

Abstract:

:A layered organization of cells is a common architectural feature of many neuronal formations. Mutations of the zebrafish gene nagie oko (nok) produce a severe disruption of retinal architecture, indicating a key role for this locus in neuronal patterning. We show that nok encodes a membrane-associated guanylate kinase-family scaffolding protein. Nok localizes to the vicinity of junctional complexes in retinal neuroepithelium and in the photoreceptor cell layer. Mosaic analysis indicates that the nok retinal patterning phenotype is not cell-autonomous. We propose that nok function in patterning of postmitotic neurons is mediated through neuroepithelial cells and is necessary for guiding neurons to their proper destinations in retinal laminae.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Wei X,Malicki J

doi

10.1038/ng883

keywords:

subject

Has Abstract

pub_date

2002-06-01 00:00:00

pages

150-7

issue

2

eissn

1061-4036

issn

1546-1718

pii

ng883

journal_volume

31

pub_type

杂志文章
  • Meristems take their cues from organ primordia.

    abstract::Stem cell regulation is critical to the development of all multicellular organisms; in plants, stem cell niches reside in meristems. Two newly identified plant genes establish a novel signaling feedback from the incipient leaf primordia back to the meristem that is required to regulate stem cell proliferation. ...

    journal_title:Nature genetics

    pub_type: 评论,杂志文章

    doi:10.1038/ng.3601

    authors: Strable J,Scanlon MJ

    更新日期:2016-06-28 00:00:00

  • Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity.

    abstract::Hundreds of genes reside in structurally complex, poorly understood regions of the human genome. One such region contains the three amylase genes (AMY2B, AMY2A and AMY1) responsible for digesting starch into sugar. Copy number of AMY1 is reported to be the largest genomic influence on obesity, although genome-wide ass...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.3340

    authors: Usher CL,Handsaker RE,Esko T,Tuke MA,Weedon MN,Hastie AR,Cao H,Moon JE,Kashin S,Fuchsberger C,Metspalu A,Pato CN,Pato MT,McCarthy MI,Boehnke M,Altshuler DM,Frayling TM,Hirschhorn JN,McCarroll SA

    更新日期:2015-08-01 00:00:00

  • Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting.

    abstract::Kallmann syndrome is a genetic disorder characterized by a defect in olfactory system development, which appears to be due to an abnormality in the migration of olfactory axons and gonadotropin releasing hormone (Gn-RH) producing neurons. The X-linked Kallmann syndrome gene shares significant similarities with molecul...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng0593-19

    authors: Rugarli EI,Lutz B,Kuratani SC,Wawersik S,Borsani G,Ballabio A,Eichele G

    更新日期:1993-05-01 00:00:00

  • Natural alleles of a proteasome α2 subunit gene contribute to thermotolerance and adaptation of African rice.

    abstract::Global warming threatens many aspects of human life, for example, by reducing crop yields. Breeding heat-tolerant crops using genes conferring thermotolerance is a fundamental way to help deal with this challenge. Here we identify a major quantitative trait locus (QTL) for thermotolerance in African rice (Oryza glaber...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.3305

    authors: Li XM,Chao DY,Wu Y,Huang X,Chen K,Cui LG,Su L,Ye WW,Chen H,Chen HC,Dong NQ,Guo T,Shi M,Feng Q,Zhang P,Han B,Shan JX,Gao JP,Lin HX

    更新日期:2015-07-01 00:00:00

  • Genomic correlates of response to immune checkpoint blockade in microsatellite-stable solid tumors.

    abstract::Tumor mutational burden correlates with response to immune checkpoint blockade in multiple solid tumors, although in microsatellite-stable tumors this association is of uncertain clinical utility. Here we uniformly analyzed whole-exome sequencing (WES) of 249 tumors and matched normal tissue from patients with clinica...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/s41588-018-0200-2

    authors: Miao D,Margolis CA,Vokes NI,Liu D,Taylor-Weiner A,Wankowicz SM,Adeegbe D,Keliher D,Schilling B,Tracy A,Manos M,Chau NG,Hanna GJ,Polak P,Rodig SJ,Signoretti S,Sholl LM,Engelman JA,Getz G,Jänne PA,Haddad RI,Chouei

    更新日期:2018-09-01 00:00:00

  • Mining the human genome using microarrays of open reading frames.

    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

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

    更新日期:2000-11-01 00:00:00

  • Loss of Cdk4 expression causes insulin-deficient diabetes and Cdk4 activation results in beta-islet cell hyperplasia.

    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

    pub_type: 杂志文章

    doi:10.1038/8751

    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

  • An X-to-autosome retrogene is required for spermatogenesis in mice.

    abstract::We identified the gene carrying the juvenile spermatogonial depletion mutation (jsd), a recessive spermatogenic defect mapped to mouse chromosome 1 (refs. 1,2). We localized jsd to a 272-kb region and resequenced this area to identify the underlying mutation: a frameshift that severely truncates the predicted protein ...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng1390

    authors: Bradley J,Baltus A,Skaletsky H,Royce-Tolland M,Dewar K,Page DC

    更新日期:2004-08-01 00:00:00

  • MLL4-associated condensates counterbalance Polycomb-mediated nuclear mechanical stress in Kabuki syndrome.

    abstract::The genetic elements required to tune gene expression are partitioned in active and repressive nuclear condensates. Chromatin compartments include transcriptional clusters whose dynamic establishment and functioning depend on multivalent interactions occurring among transcription factors, cofactors and basal transcrip...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/s41588-020-00724-8

    authors: Fasciani A,D'Annunzio S,Poli V,Fagnocchi L,Beyes S,Michelatti D,Corazza F,Antonelli L,Gregoretti F,Oliva G,Belli R,Peroni D,Domenici E,Zambrano S,Intartaglia D,Settembre C,Conte I,Testi C,Vergyris P,Ruocco G,Zippo

    更新日期:2020-12-01 00:00:00

  • EGFR signaling attenuates Groucho-dependent repression to antagonize Notch transcriptional output.

    abstract::Crosstalk between signaling pathways is crucial for the generation of complex and varied transcriptional networks. Antagonism between the EGF-receptor (EGFR) and Notch pathways in particular is well documented, although the underlying mechanism is poorly understood. The global corepressor Groucho (Gro) and its transdu...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng1486

    authors: Hasson P,Egoz N,Winkler C,Volohonsky G,Jia S,Dinur T,Volk T,Courey AJ,Paroush Z

    更新日期:2005-01-01 00:00:00

  • Modifiers of epigenetic reprogramming show paternal effects in the mouse.

    abstract::There is increasing evidence that epigenetic information can be inherited across generations in mammals, despite extensive reprogramming both in the gametes and in the early developing embryo. One corollary to this is that disrupting the establishment of epigenetic state in the gametes of a parent, as a result of hete...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng2031

    authors: Chong S,Vickaryous N,Ashe A,Zamudio N,Youngson N,Hemley S,Stopka T,Skoultchi A,Matthews J,Scott HS,de Kretser D,O'Bryan M,Blewitt M,Whitelaw E

    更新日期:2007-05-01 00:00:00

  • Establishment of functional imprinting of the H19 gene in human developing placentae.

    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

    authors: Jinno Y,Ikeda Y,Yun K,Maw M,Masuzaki H,Fukuda H,Inuzuka K,Fujishita A,Ohtani Y,Okimoto T

    更新日期:1995-07-01 00:00:00

  • The genome of the platyfish, Xiphophorus maculatus, provides insights into evolutionary adaptation and several complex traits.

    abstract::Several attributes intuitively considered to be typical mammalian features, such as complex behavior, live birth and malignant disease such as cancer, also appeared several times independently in lower vertebrates. The genetic mechanisms underlying the evolution of these elaborate traits are poorly understood. The pla...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.2604

    authors: Schartl M,Walter RB,Shen Y,Garcia T,Catchen J,Amores A,Braasch I,Chalopin D,Volff JN,Lesch KP,Bisazza A,Minx P,Hillier L,Wilson RK,Fuerstenberg S,Boore J,Searle S,Postlethwait JH,Warren WC

    更新日期:2013-05-01 00:00:00

  • Regulatory evolution across the protein interaction network.

    abstract::Protein-protein interactions may impose constraints on both structural and regulatory evolution. Here we show that protein-protein interactions are negatively associated with evolutionary variation in gene expression. Moreover, interacting proteins have similar levels of variation in expression, and their expression l...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng1427

    authors: Lemos B,Meiklejohn CD,Hartl DL

    更新日期:2004-10-01 00:00:00

  • Selection for short introns in highly expressed genes.

    abstract::Transcription is a slow and expensive process: in eukaryotes, approximately 20 nucleotides can be transcribed per second at the expense of at least two ATP molecules per nucleotide. Thus, at least for highly expressed genes, transcription of long introns, which are particularly common in mammals, is costly. Using data...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng940

    authors: Castillo-Davis CI,Mekhedov SL,Hartl DL,Koonin EV,Kondrashov FA

    更新日期:2002-08-01 00:00:00

  • Toward genome-wide SNP genotyping.

    abstract::Genome-wide association studies with SNP markers are expected to allow identification of genes that underlie complex disorders. Hundreds of thousands of SNP markers will be required for comprehensive genome-wide association studies. The development of microarray-based methods for SNP genotyping on this scale remains a...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng1558

    authors: Syvänen AC

    更新日期:2005-06-01 00:00:00

  • Association of the INS VNTR with size at birth. ALSPAC Study Team. Avon Longitudinal Study of Pregnancy and Childhood.

    abstract::Size at birth is an important determinant of perinatal survival and has also been associated with the risk for cardiovascular disease and type 2 diabetes in adult life. Common genetic variation that regulates fetal growth could therefore influence perinatal survival and predispose to the development of adult disease. ...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng0598-98

    authors: Dunger DB,Ong KK,Huxtable SJ,Sherriff A,Woods KA,Ahmed ML,Golding J,Pembrey ME,Ring S,Bennett ST,Todd JA

    更新日期:1998-05-01 00:00:00

  • The roles of MAD1, MAD2 and MAD3 in meiotic progression and the segregation of nonexchange chromosomes.

    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

    authors: Cheslock PS,Kemp BJ,Boumil RM,Dawson DS

    更新日期:2005-07-01 00:00:00

  • Enabling direct fate conversion with network biology.

    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

    authors: Cahan P

    更新日期:2016-03-01 00:00:00

  • Systematic assessment of copy number variant detection via genome-wide SNP genotyping.

    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

    authors: Cooper GM,Zerr T,Kidd JM,Eichler EE,Nickerson DA

    更新日期:2008-10-01 00:00:00

  • DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1.

    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

    authors: Jerome LA,Papaioannou VE

    更新日期:2001-03-01 00:00:00

  • Author Correction: PGBD5 promotes site-specific oncogenic mutations in human tumors.

    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

    authors: Henssen AG,Koche R,Zhuang J,Jiang E,Reed C,Eisenberg A,Still E,MacArthur IC,Rodríguez-Fos E,Gonzalez S,Puiggròs M,Blackford AN,Mason CE,de Stanchina E,Gönen M,Emde AK,Shah M,Arora K,Reeves C,Socci ND,Perlman E,A

    更新日期:2020-11-01 00:00:00

  • Minisatellite diversity supports a recent African origin for modern humans.

    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

    authors: Armour JA,Anttinen T,May CA,Vega EE,Sajantila A,Kidd JR,Kidd KK,Bertranpetit J,Pääbo S,Jeffreys AJ

    更新日期:1996-06-01 00:00:00

  • Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.

    abstract::A genome-wide association scan of approximately 6.6 million genotyped or imputed variants in 882 Sardinian individuals with multiple sclerosis (cases) and 872 controls suggested association of CBLB gene variants with disease, which was confirmed in 1,775 cases and 2,005 controls (rs9657904, overall P = 1.60 x 10(-10),...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.584

    authors: Sanna S,Pitzalis M,Zoledziewska M,Zara I,Sidore C,Murru R,Whalen MB,Busonero F,Maschio A,Costa G,Melis MC,Deidda F,Poddie F,Morelli L,Farina G,Li Y,Dei M,Lai S,Mulas A,Cuccuru G,Porcu E,Liang L,Zavattari P,M

    更新日期:2010-06-01 00:00:00

  • A functional genomics predictive network model identifies regulators of inflammatory bowel disease.

    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

    authors: Peters LA,Perrigoue J,Mortha A,Iuga A,Song WM,Neiman EM,Llewellyn SR,Di Narzo A,Kidd BA,Telesco SE,Zhao Y,Stojmirovic A,Sendecki J,Shameer K,Miotto R,Losic B,Shah H,Lee E,Wang M,Faith JJ,Kasarskis A,Brodmerkel C

    更新日期:2017-10-01 00:00:00

  • The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains.

    abstract::Characterization of the polycystic kidney disease 1 (PKD1) gene has been complicated by genomic rearrangements on chromosome 16. We have used an exon linking strategy, taking RNA from a cell line containing PKD1 but not the duplicate loci, to clone a cDNA contig of the entire transcript. The transcript consists of 14,...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng0695-151

    authors: Hughes J,Ward CJ,Peral B,Aspinwall R,Clark K,San Millán JL,Gamble V,Harris PC

    更新日期:1995-06-01 00:00:00

  • Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts.

    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

    pub_type: 杂志文章

    doi:10.1038/77153

    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

  • Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly).

    abstract::Pelger-Huët anomaly (PHA; OMIM *169400) is an autosomal dominant disorder characterized by abnormal nuclear shape and chromatin organization in blood granulocytes. Affected individuals show hypolobulated neutrophil nuclei with coarse chromatin. Presumed homozygous individuals have ovoid neutrophil nuclei, as well as v...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng925

    authors: Hoffmann K,Dreger CK,Olins AL,Olins DE,Shultz LD,Lucke B,Karl H,Kaps R,Müller D,Vayá A,Aznar J,Ware RE,Sotelo Cruz N,Lindner TH,Herrmann H,Reis A,Sperling K

    更新日期:2002-08-01 00:00:00

  • Genome-wide association analysis of 19,629 individuals identifies variants influencing regional brain volumes and refines their genetic co-architecture with cognitive and mental health traits.

    abstract::Volumetric variations of the human brain are heritable and are associated with many brain-related complex traits. Here we performed genome-wide association studies (GWAS) of 101 brain volumetric phenotypes using the UK Biobank sample including 19,629 participants. GWAS identified 365 independent genetic variants excee...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/s41588-019-0516-6

    authors: Zhao B,Luo T,Li T,Li Y,Zhang J,Shan Y,Wang X,Yang L,Zhou F,Zhu Z,Alzheimer’s Disease Neuroimaging Initiative.,Pediatric Imaging, Neurocognition and Genetics.,Zhu H

    更新日期:2019-11-01 00:00:00

  • A male-female bias in type 1 diabetes and linkage to chromosome Xp in MHC HLA-DR3-positive patients.

    abstract::It is generally assumed that the male:female (M:F) ratio in patients with type 1 (insulin-dependent) diabetes mellitus (IDDM) is 1. A recent survey, however, revealed that high incidence countries (mainly European) have a high M:F ratio and low incidence ones (Asian and African) have a low M:F ratio. We have now analy...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/995

    authors: Cucca F,Goy JV,Kawaguchi Y,Esposito L,Merriman ME,Wilson AJ,Cordell HJ,Bain SC,Todd JA

    更新日期:1998-07-01 00:00:00