当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21.

The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21.

Abstract：

:Nijmegen breakage syndrome (NBS; Seemanová II syndrome) and Berlin breakage syndrome (BBS), also known as ataxia-telangiectasia variants, are two clinically indistinguishable autosomal recessive familial cancer syndromes that share with ataxia-telangiectasia similar cellular, immunological, and chromosomal but not clinical findings. Classification in NBS and BBS was based on complementation of their hypersensitivity to ionizing radiation in cell-fusion experiments. Recent investigations have questioned the former classification into two different disease entities, suggesting that NBS/BBS is caused by mutations in a single radiosensitivity gene. We now have performed a whole-genome screen in 14 NBS/BBS families and have localized the gene for NBS/BBS to a 1-cM interval on chromosome 8q21, between markers D8S271 and D8S270, with a peak LOD score of 6.86 at D8S1811. This marker also shows strong allelic association to both Slavic NBS and German BBS patients, suggesting the existence of one major mutation of Slavic origin. Since the same allele is seen in both former complementation groups, genetic homogeneity of NBS/BBS can be considered as proved.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Saar K,Chrzanowska KH,Stumm M,Jung M,Nürnberg G,Wienker TF,Seemanová E,Wegner RD,Reis A,Sperling K

subject

Has Abstract

pub_date

1997-03-01 00:00:00

pages

605-10

issue

3

eissn

0002-9297

issn

1537-6605

journal_volume

60

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance.

    abstract：:Hereditary fructose intolerance (HFI) is a potentially fatal autosomal recessive disease of carbohydrate metabolism. HFI patients exhibit a deficiency of fructose 1-phosphate aldolase (aldolase B), the isozyme expressed in tissues that metabolize fructose. The eight protein-coding exons, including splicing signals, of...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Brooks CC,Buist N,Tuerck J,Tolan DR

    更新日期：1991-11-01 00:00:00

  • Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration.

    abstract：:Diabetes mellitus and neurodegeneration are common diseases for which shared genetic factors are still only partly known. Here, we show that loss of the BiP (immunoglobulin heavy-chain binding protein) co-chaperone DNAJC3 leads to diabetes mellitus and widespread neurodegeneration. We investigated three siblings with ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2014.10.013

    authors： Synofzik M,Haack TB,Kopajtich R,Gorza M,Rapaport D,Greiner M,Schönfeld C,Freiberg C,Schorr S,Holl RW,Gonzalez MA,Fritsche A,Fallier-Becker P,Zimmermann R,Strom TM,Meitinger T,Züchner S,Schüle R,Schöls L,Prokisch H

    更新日期：2014-12-04 00:00:00

  • Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.

    abstract：:In Williams syndrome (WS), a deletion of approximately 1.5 Mb on one copy of chromosome 7 causes specific physical, cognitive, and behavioral abnormalities. Molecular dissection of the phenotype may be a route to identification of genes important in human cognition and behavior. Among the genes known to be deleted in ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302214

    authors： Tassabehji M,Metcalfe K,Karmiloff-Smith A,Carette MJ,Grant J,Dennis N,Reardon W,Splitt M,Read AP,Donnai D

    更新日期：1999-01-01 00:00:00

  • A new familial amyotrophic lateral sclerosis locus on chromosome 16q12.1-16q12.2.

    abstract：:Familial amyotrophic lateral sclerosis (FALS) affects 5%-10% of cases of amyotrophic lateral sclerosis (ALS) and is inherited as an autosomal dominant condition with incomplete penetrance. One-fifth of these cases of FALS are associated with mutations in copper/zinc-dependent superoxide dismutase (SOD1), but the gene ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/377156

    authors： Abalkhail H,Mitchell J,Habgood J,Orrell R,de Belleroche J

    更新日期：2003-08-01 00:00:00

  • Evidence against the reported linkage of the cutaneous melanoma-dysplastic nevus syndrome locus to chromosome Ip36.

    abstract：:The reported linkage between cutaneous melanoma and the dysplastic nevus syndrome (CM/DNS) to markers located on the distal portion of the short arm of chromosome 1 was examined in three Utah kindreds ascertained for multiple cases of melanoma. Family members in these kindreds were genotyped for the two markers report...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Cannon-Albright LA,Goldgar DE,Wright EC,Turco A,Jost M,Meyer LJ,Piepkorn M,Zone JJ,Skolnick MH

    更新日期：1990-05-01 00:00:00

  • The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.

    abstract：:The X-linked form of spondyloepiphyseal dysplasia tarda (SEDL), a radiologically distinct skeletal dysplasia affecting the vertebrae and epiphyses, is caused by mutations in the SEDL gene. To characterize the molecular basis for SEDL, we have identified the spectrum of SEDL mutations in 30 of 36 unrelated cases of X-l...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/320592

    authors： Gedeon AK,Tiller GE,Le Merrer M,Heuertz S,Tranebjaerg L,Chitayat D,Robertson S,Glass IA,Savarirayan R,Cole WG,Rimoin DL,Kousseff BG,Ohashi H,Zabel B,Munnich A,Gecz J,Mulley JC

    更新日期：2001-06-01 00:00:00

  • Contrasting linkage-disequilibrium patterns between cases and controls as a novel association-mapping method.

    abstract：:Identification and description of genetic variation underlying disease susceptibility, efficacy, and adverse reactions to drugs remains a difficult problem. One of the important steps in the analysis of variation in a candidate region is the characterization of linkage disequilibrium (LD). In a region of genetic assoc...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/503710

    authors： Zaykin DV,Meng Z,Ehm MG

    更新日期：2006-05-01 00:00:00

  • Linkage analysis of X-linked cone-rod dystrophy: localization to Xp11.4 and definition of a locus distinct from RP2 and RP3.

    abstract：:Progressive X-linked cone-rod dystrophy (COD1) is a retinal disease affecting primarily the cone photoreceptors. The COD1 locus originally was localized, by the study of three independent families, to a region between Xp11.3 and Xp21.1, encompassing the retinitis pigmentosa (RP) 3 locus. We have refined the COD1 locus...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/301667

    authors： Seymour AB,Dash-Modi A,O'Connell JR,Shaffer-Gordon M,Mah TS,Stefko ST,Nagaraja R,Brown J,Kimura AE,Ferrell RE,Gorin MB

    更新日期：1998-01-01 00:00:00

  • Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

    abstract：:Exome sequencing has markedly enhanced the discovery of genes implicated in Mendelian disorders, particularly for individuals in whom a known clinical entity could not be assigned. This has led to the recognition that phenotypic heterogeneity resulting from allelic mutations occurs more commonly than previously apprec...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2017.12.015

    authors： Martinelli S,Krumbach OHF,Pantaleoni F,Coppola S,Amin E,Pannone L,Nouri K,Farina L,Dvorsky R,Lepri F,Buchholzer M,Konopatzki R,Walsh L,Payne K,Pierpont ME,Vergano SS,Langley KG,Larsen D,Farwell KD,Tang S,Mroske C

    更新日期：2018-02-01 00:00:00

  • Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B.

    abstract：:A population-based study of hemophilia B mutations was conducted in the United Kingdom in order to construct a national confidential database of mutations and pedigrees to be used for the provision of carrier and prenatal diagnoses based on mutation detection. This allowed the direct estimate of overall (micro), male ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302651

    authors： Green PM,Saad S,Lewis CM,Giannelli F

    更新日期：1999-12-01 00:00:00

  • Gyrate atrophy of the choroid and retina: characterization of mutant ornithine aminotransferase and mechanism of response to vitamin B6.

    abstract：:The purpose of this study was to characterize the mutant enzyme in nine patients with gyrate atrophy of the choroid and retina associated with ornithine aminotransferase (OAT) deficiency, to elucidate the mechanism of response to pyridoxine in four pyridoxine-responsive patients, and to determine the extent of genetic...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Kennaway NG,Stankova L,Wirtz MK,Weleber RG

    更新日期：1989-03-01 00:00:00

  • Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.

    abstract：:Keratitis-ichthyosis-deafness syndrome (KID) is a rare ectodermal dysplasia characterized by vascularizing keratitis, profound sensorineural hearing loss (SNHL), and progressive erythrokeratoderma, a clinical triad that indicates a failure in development and differentiation of multiple stratifying epithelia. Here, we ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/339986

    authors： Richard G,Rouan F,Willoughby CE,Brown N,Chung P,Ryynänen M,Jabs EW,Bale SJ,DiGiovanna JJ,Uitto J,Russell L

    更新日期：2002-05-01 00:00:00

  • A review of limb defects in a large fetus collection.

    abstract：:Although a considerable number of papers have been published dealing with the frequency and variety of genetic and nongenetic limb defects in newborns and to a lesser extent among embryos, little has been published about the range of limb defects among spontaneously aborted middle and late-term fetuses. This study rep...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Stephens TD,Shepard TH

    更新日期：1983-05-01 00:00:00

  • THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.

    abstract：:Export of mRNA from the cell nucleus to the cytoplasm is essential for protein synthesis, a process vital to all living eukaryotic cells. mRNA export is highly conserved and ubiquitous. Mutations affecting mRNA and mRNA processing or export factors, which cause aberrant retention of mRNAs in the nucleus, are thus emer...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2015.05.021

    authors： Kumar R,Corbett MA,van Bon BW,Woenig JA,Weir L,Douglas E,Friend KL,Gardner A,Shaw M,Jolly LA,Tan C,Hunter MF,Hackett A,Field M,Palmer EE,Leffler M,Rogers C,Boyle J,Bienek M,Jensen C,Van Buggenhout G,Van Esch H,

    更新日期：2015-08-06 00:00:00

  • Accurate and fast multiple-testing correction in eQTL studies.

    abstract：:In studies of expression quantitative trait loci (eQTLs), it is of increasing interest to identify eGenes, the genes whose expression levels are associated with variation at a particular genetic variant. Detecting eGenes is important for follow-up analyses and prioritization because genes are the main entities in biol...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2015.04.012

    authors： Sul JH,Raj T,de Jong S,de Bakker PI,Raychaudhuri S,Ophoff RA,Stranger BE,Eskin E,Han B

    更新日期：2015-06-04 00:00:00

  • X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase.

    abstract：:Histochemical assay for ornithine transcarbamylase (OTC) activity in fixed frozen hepatic sections from a woman heterozygous for OTC deficiency revealed two populations of hepatocytes: those with normal activity and those with no activity. This observation, in conjunction with data from previous family studies, confir...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Ricciuti FC,Gelehrter TD,Rosenberg LE

    更新日期：1976-07-01 00:00:00

  • A genetical model for vitiligo.

    abstract：:A genetical model is found to provide a good fit to family data on vitiligo. The model postulates that recessive alleles at a set of four unlinked diallelic loci are involved in the causation of the disorder. Under this multiple recessive homozygosis model, for normal X affected families ascertained through the affect...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Majumder PP,Das SK,Li CC

    更新日期：1988-08-01 00:00:00

  • De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

    abstract：:Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal-dominant condition caused by mutations in MYH3 and characterized by multiple congenital contractures of the face and limbs and normal cognitive development. We identified a subset of five individuals who had been putatively diagnosed wi...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2015.01.003

    authors： Chong JX,McMillin MJ,Shively KM,Beck AE,Marvin CT,Armenteros JR,Buckingham KJ,Nkinsi NT,Boyle EA,Berry MN,Bocian M,Foulds N,Uzielli ML,Haldeman-Englert C,Hennekam RC,Kaplan P,Kline AD,Mercer CL,Nowaczyk MJ,Klein Was

    更新日期：2015-03-05 00:00:00

  • Human placental and intestinal alkaline phosphatase genes map to 2q34-q37.

    abstract：:The alkaline phosphatases comprise a multigene enzyme family that hydolyze phosphate esters and are widely distributed in nature. Three main classes have been isolated from humans, the placental, intestinal, and liver/bone/kidney forms. We have mapped the placental and intestinal alkaline phosphatase genes to 2q34-q37...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Griffin CA,Smith M,Henthorn PS,Harris H,Weiss MJ,Raducha M,Emanuel BS

    更新日期：1987-12-01 00:00:00

  • miR-196a ameliorates phenotypes of Huntington disease in cell, transgenic mouse, and induced pluripotent stem cell models.

    abstract：:Huntington disease (HD) is a dominantly inherited neurodegenerative disorder characterized by dysregulation of various genes. Recently, microRNAs (miRNAs) have been reported to be involved in this dysregulation, suggesting that manipulation of appropriate miRNA regulation may have a therapeutic benefit. Here, we repor...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2013.05.025

    authors： Cheng PH,Li CL,Chang YF,Tsai SJ,Lai YY,Chan AW,Chen CM,Yang SH

    更新日期：2013-08-08 00:00:00

  • A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.

    abstract：:Autosomal dominant retinitis pigmentosa (ADRP) has recently been linked to locus D3S47 (probe C17), with no recombination, in a single large Irish family. Other ADRP pedigrees have shown linkage at zero recombination, linkage with recombination, and no linkage, demonstrating genetic heterogeneity. The gene encoding rh...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Inglehearn CF,Bashir R,Lester DH,Jay M,Bird AC,Bhattacharya SS

    更新日期：1991-01-01 00:00:00

  • Model-free linkage analysis using likelihoods.

    abstract：:Misspecification of transmission model parameters can produce artifactually negative lod scores at small recombination fractions and in multipoint analysis. To avoid this problem, we have tried to devise a test that aims to detect a genetic effect at a particular locus, rather than attempting to estimate the map posit...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Curtis D,Sham PC

    更新日期：1995-09-01 00:00:00

  • A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly.

    abstract：:Holoprosencephaly is the incomplete separation of the forebrain during embryogenesis. Both genetic and environmental etiologies have been determined for holoprosencephaly; however, a genetic etiology is not found in most cases. In this report, we present two unrelated individuals with semilobar holoprosencephaly who h...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2019.03.017

    authors： Kruszka P,Berger SI,Weiss K,Everson JL,Martinez AF,Hong S,Anyane-Yeboa K,Lipinski RJ,Muenke M

    更新日期：2019-05-02 00:00:00

  • Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cells.

    abstract：:Achieving long-term expression of a therapeutic gene in a given hematopoietic lineage remains an important goal of gene therapy. Congenital erythropoietic porphyria (CEP) is a severe autosomal-recessive disorder characterized by a deficiency in uroporphyrinogen III synthase (UROS), the fourth enzyme of the heme biosyn...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2007.09.007

    authors： Robert-Richard E,Moreau-Gaudry F,Lalanne M,Lamrissi-Garcia I,Cario-André M,Guyonnet-Dupérat V,Taine L,Ged C,de Verneuil H

    更新日期：2008-01-01 00:00:00

  • A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.

    abstract：:Phosphatase and tensin homolog (PTEN) is a tumor suppressor frequently mutated in diverse cancers. Germline PTEN mutations are also associated with a range of clinical outcomes, including PTEN hamartoma tumor syndrome (PHTS) and autism spectrum disorder (ASD). To empower new insights into PTEN function and clinically ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2018.03.018

    authors： Mighell TL,Evans-Dutson S,O'Roak BJ

    更新日期：2018-05-03 00:00:00

  • The transmission of schizophrenia under a multifactorial threshold model.

    abstract：:Family studies of schizophrenia have reported elevated rates of both definite and definite-plus-probable schizophrenia among the relatives of definite schizophrenics. These elevated rates imply a strong association between the two forms of diagnosis and suggest some form of familial transmission. Here we have used rec...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： McGue M,Gottesman II,Rao DC

    更新日期：1983-11-01 00:00:00

  • A unified stepwise regression procedure for evaluating the relative effects of polymorphisms within a gene using case/control or family data: application to HLA in type 1 diabetes.

    abstract：:A stepwise logistic-regression procedure is proposed for evaluation of the relative importance of variants at different sites within a small genetic region. By fitting statistical models with main effects, rather than modeling the full haplotype effects, we generate tests, with few degrees of freedom, that are likely ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/338007

    authors： Cordell HJ,Clayton DG

    更新日期：2002-01-01 00:00:00

  • A statistical method for identification of polymorphisms that explain a linkage result.

    abstract：:Suppose that many polymorphic sites have been identified and genotyped in a region showing strong linkage with a trait. A key question of interest is which site (or combination of sites) in the region influences susceptibility to the trait. We have developed a novel statistical approach to this problem, in the context...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/338660

    authors： Sun L,Cox NJ,McPeek MS

    更新日期：2002-02-01 00:00:00

  • Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.

    abstract：:Genomic rearrangements involving the peripheral myelin protein gene (PMP22) in human chromosome 17p12 are associated with neuropathy: duplications cause Charcot-Marie-Tooth disease type 1A (CMT1A), whereas deletions lead to hereditary neuropathy with liability to pressure palsies (HNPP). Our previous studies showed th...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2010.05.001

    authors： Zhang F,Seeman P,Liu P,Weterman MA,Gonzaga-Jauregui C,Towne CF,Batish SD,De Vriendt E,De Jonghe P,Rautenstrauss B,Krause KH,Khajavi M,Posadka J,Vandenberghe A,Palau F,Van Maldergem L,Baas F,Timmerman V,Lupski JR

    更新日期：2010-06-11 00:00:00

  • Interpretation of association signals and identification of causal variants from genome-wide association studies.

    abstract：:GWAS have been successful in identifying disease susceptibility loci, but it remains a challenge to pinpoint the causal variants in subsequent fine-mapping studies. A conventional fine-mapping effort starts by sequencing dozens of randomly selected samples at susceptibility loci to discover candidate variants, which a...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2010.04.003

    authors： Wang K,Dickson SP,Stolle CA,Krantz ID,Goldstein DB,Hakonarson H

    更新日期：2010-05-14 00:00:00