当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.

Abstract：

:Tubular aggregates are regular arrays of membrane tubules accumulating in muscle with age. They are found as secondary features in several muscle disorders, including alcohol- and drug-induced myopathies, exercise-induced cramps, and inherited myasthenia, but also exist as a pure genetic form characterized by slowly progressive muscle weakness. We identified dominant STIM1 mutations as a genetic cause of tubular-aggregate myopathy (TAM). Stromal interaction molecule 1 (STIM1) is the main Ca(2+) sensor in the endoplasmic reticulum, and all mutations were found in the highly conserved intraluminal Ca(2+)-binding EF hands. Ca(2+) stores are refilled through a process called store-operated Ca(2+) entry (SOCE). Upon Ca(2+)-store depletion, wild-type STIM1 oligomerizes and thereby triggers extracellular Ca(2+) entry. In contrast, the missense mutations found in our four TAM-affected families induced constitutive STIM1 clustering, indicating that Ca(2+) sensing was impaired. By monitoring the calcium response of TAM myoblasts to SOCE, we found a significantly higher basal Ca(2+) level in TAM cells and a dysregulation of intracellular Ca(2+) homeostasis. Because recessive STIM1 loss-of-function mutations were associated with immunodeficiency, we conclude that the tissue-specific impact of STIM1 loss or constitutive activation is different and that a tight regulation of STIM1-dependent SOCE is fundamental for normal skeletal-muscle structure and function.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Böhm J,Chevessier F,Maues De Paula A,Koch C,Attarian S,Feger C,Hantaï D,Laforêt P,Ghorab K,Vallat JM,Fardeau M,Figarella-Branger D,Pouget J,Romero NB,Koch M,Ebel C,Levy N,Krahn M,Eymard B,Bartoli M,Laporte J

doi

10.1016/j.ajhg.2012.12.007

subject

Has Abstract

pub_date

2013-02-07 00:00:00

pages

271-8

issue

2

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(12)00641-6

journal_volume

92

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.

    abstract：:Craniofrontonasal syndrome (CFNS) is an X-linked disorder that exhibits a paradoxical sex reversal in phenotypic severity: females characteristically have frontonasal dysplasia, craniosynostosis, and additional minor malformations, but males are usually mildly affected with hypertelorism only. Despite this, males appe...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/504440

    authors： Twigg SR,Matsumoto K,Kidd AM,Goriely A,Taylor IB,Fisher RB,Hoogeboom AJ,Mathijssen IM,Lourenco MT,Morton JE,Sweeney E,Wilson LC,Brunner HG,Mulliken JB,Wall SA,Wilkie AO

    更新日期：2006-06-01 00:00:00

  • Probable genetic linkage between autosomal dominant retinitis pigmentosa (RP) and amylase (AMY2): evidence of an RP locus on chromosome 1.

    abstract：:A linkage analysis is reported for three branches of a single family segregating for autosomal dominant retinitis pigmentosa. A statistically significant lod score of 3.9 is obtained for the RP locus and AMY2 at a recombination frequency of 1%. This linkage indicates that the RP locus is on the no. 1 chromosome since ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Spence MA,Sparkes RS,Heckenlively JR,Pearlman JT,Zedalis D,Sparkes M,Crist M,Tideman S

    更新日期：1977-07-01 00:00:00

  • Fine localization of a major disease-susceptibility locus for diffuse panbronchiolitis.

    abstract：:Diffuse panbronchiolitis affecting East Asians is strongly associated with the class I human leukocyte antigen (HLA) alleles. Recent observations suggest that a major disease-susceptibility gene may be located between the HLA-B and HLA-A loci in the class I region of the major histocompatibility complex on chromosome ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302786

    authors： Keicho N,Ohashi J,Tamiya G,Nakata K,Taguchi Y,Azuma A,Ohishi N,Emi M,Park MH,Inoko H,Tokunaga K,Kudoh S

    更新日期：2000-02-01 00:00:00

  • Nondisjunction of chromosome 21: comparisons of cytogenetic and molecular studies of the meiotic stage and parent of origin.

    abstract：:In the present report, we summarize studies aimed at examining the reliability of chromosome heteromorphisms in analyses of chromosome 21 nondisjunction. We used two cytogenetic approaches--fluorescent in situ hybridization (FISH) to repetitive sequences on 21p and traditional Q-banding--to distinguish chromosome 21 h...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Lorber BJ,Grantham M,Peters J,Willard HF,Hassold TJ

    更新日期：1992-12-01 00:00:00

  • The gene encoding human vimentin is located on the short arm of chromosome 10.

    abstract：:The gene for vimentin, an intermediate-filament protein, is growth regulated. We used Southern blot analysis and in situ chromosome hybridization to determine the location of the human vimentin gene. Our results show that there is only one copy of the vimentin gene and that it is located on the short arm of chromosome...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Ferrari S,Cannizzaro LA,Battini R,Huebner K,Baserga R

    更新日期：1987-10-01 00:00:00

  • HLA-DR polymorphism in a Senegalese Mandenka population: DNA oligotyping and population genetics of DRB1 specificities.

    abstract：:HLA class II loci are useful markers in human population genetics, because they are extremely variable and because new molecular techniques allow large-scale analysis of DNA allele frequencies. Direct DNA typing by hybridization with sequence-specific oligonucleotide probes (HLA oligotyping) after enzymatic in vitro P...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Tiercy JM,Sanchez-Mazas A,Excoffier L,Shi-Isaac X,Jeannet M,Mach B,Langaney A

    更新日期：1992-09-01 00:00:00

  • Huntington disease in Georgia: age at onset.

    abstract：:Age at onset of motor symptoms was collected on 611 persons affected with Huntington disease (HD) among 3,201 persons "at risk" in 108 kindreds. Life-table estimates correcting for truncated intervals of observation (censoring) produced a median age at onset 5 years older than the observed mean. Risk estimates of HD o...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Adams P,Falek A,Arnold J

    更新日期：1988-11-01 00:00:00

  • Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.

    abstract：:Carpenter syndrome is an autosomal-recessive multiple-congenital-malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet; many other clinical features occur, and the most frequent include obesity, umbilical hernia, cryptorchidism, and congenital heart disease. Mutat...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.08.027

    authors： Twigg SR,Lloyd D,Jenkins D,Elçioglu NE,Cooper CD,Al-Sannaa N,Annagür A,Gillessen-Kaesbach G,Hüning I,Knight SJ,Goodship JA,Keavney BD,Beales PL,Gileadi O,McGowan SJ,Wilkie AO

    更新日期：2012-11-02 00:00:00

  • Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent.

    abstract：:Fibroblasts from a man with a mild form of osteogenesis imperfecta (OI) and from his son with perinatal lethal OI (OI type II) produced normal and abnormal type I procollagen molecules. The abnormal molecules synthesized by both cell strains contained one or two pro alpha 1(I) chains in which the glycine at position 5...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Wallis GA,Starman BJ,Zinn AB,Byers PH

    更新日期：1990-06-01 00:00:00

  • Independence tests for VNTR alleles defined as quantile bins.

    abstract：:VNTR fragment lengths in three databases maintained by the FBI for forensic purposes were partitioned into quantile bins, and tests for independence of the two bins at each of six loci were conducted. Whether independence was declared depended on the number of quantiles used. For a large number of quantile bins, equal...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Weir BS

    更新日期：1993-11-01 00:00:00

  • Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.

    abstract：:Cone-rod dystrophy (CRD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. By using homozygosity mapping in an individual with autosomal-recessive (ar) RP from a consanguineous family, we identified three sizeable homozygous regions, together encompassing 46 Mb...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2011.11.015

    authors： Estrada-Cuzcano A,Neveling K,Kohl S,Banin E,Rotenstreich Y,Sharon D,Falik-Zaccai TC,Hipp S,Roepman R,Wissinger B,Letteboer SJ,Mans DA,Blokland EA,Kwint MP,Gijsen SJ,van Huet RA,Collin RW,Scheffer H,Veltman JA,Zrenne

    更新日期：2012-01-13 00:00:00

  • Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

    abstract：:Gap junctions are assemblies of intercellular channels that regulate a variety of physiologic and developmental processes through the exchange of small ions and signaling molecules. These channels consist of connexin family proteins that allow for diversity of channel composition and conductance properties. The human ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/346090

    authors： Paznekas WA,Boyadjiev SA,Shapiro RE,Daniels O,Wollnik B,Keegan CE,Innis JW,Dinulos MB,Christian C,Hannibal MC,Jabs EW

    更新日期：2003-02-01 00:00:00

  • A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population.

    abstract：:Alzheimer disease (AD) is the most common cause of dementia. We conducted a genome screen of 103 patients with late-onset AD who were ascertained as part of the Genetic Research in Isolated Populations (GRIP) program that is conducted in a recently isolated population from the southwestern area of The Netherlands. All...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/518720

    authors： Liu F,Arias-Vásquez A,Sleegers K,Aulchenko YS,Kayser M,Sanchez-Juan P,Feng BJ,Bertoli-Avella AM,van Swieten J,Axenovich TI,Heutink P,van Broeckhoven C,Oostra BA,van Duijn CM

    更新日期：2007-07-01 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

  • TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.

    abstract：:Congenital disorders of glycosylation (CDGs) form a genetically and clinically heterogeneous group of diseases with aberrant protein glycosylation as a hallmark. A subgroup of CDGs can be attributed to disturbed Golgi homeostasis. However, identification of pathogenic variants is seriously complicated by the large num...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2015.12.011

    authors： Jansen JC,Timal S,van Scherpenzeel M,Michelakakis H,Vicogne D,Ashikov A,Moraitou M,Hoischen A,Huijben K,Steenbergen G,van den Boogert MA,Porta F,Calvo PL,Mavrikou M,Cenacchi G,van den Bogaart G,Salomon J,Holleboom AG,

    更新日期：2016-02-04 00:00:00

  • Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP.

    abstract：:The two main phenotypes of inflammatory bowel disease (IBD)--Crohn's disease (CD) and ulcerative colitis (UC)--are chronic intestinal inflammatory disorders with a complex genetic background. Using a three-stage design, we performed a functional candidate-gene analysis of innate immune pathway in IBD. In phase I, we t...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,多中心研究

    doi：10.1016/j.ajhg.2008.03.016

    authors： Zhernakova A,Festen EM,Franke L,Trynka G,van Diemen CC,Monsuur AJ,Bevova M,Nijmeijer RM,van 't Slot R,Heijmans R,Boezen HM,van Heel DA,van Bodegraven AA,Stokkers PC,Wijmenga C,Crusius JB,Weersma RK

    更新日期：2008-05-01 00:00:00

  • The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval.

    abstract：:Recently, a new locus (PARK8) for autosomal dominant parkinsonism has been identified in one large Japanese family. Linkage has been shown to a 16-cM centromeric region of chromosome 12, between markers D12S1631 and D12S339. We tested 21 white families with Parkinson disease and an inheritance pattern compatible with ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/380647

    authors： Zimprich A,Müller-Myhsok B,Farrer M,Leitner P,Sharma M,Hulihan M,Lockhart P,Strongosky A,Kachergus J,Calne DB,Stoessl J,Uitti RJ,Pfeiffer RF,Trenkwalder C,Homann N,Ott E,Wenzel K,Asmus F,Hardy J,Wszolek Z,Gasser T

    更新日期：2004-01-01 00:00:00

  • Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.

    abstract：:Hypokalemic periodic paralysis (hypoPP) is an autosomal dominant disorder belonging to a group of muscle diseases involving the abnormal function of ion channels. This group of muscle diseases also comprises hyperkalemic periodic paralysis and paramyotonia congenita, both sodium-channel diseases, and myotonia congenit...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Elbaz A,Vale-Santos J,Jurkat-Rott K,Lapie P,Ophoff RA,Bady B,Links TP,Piussan C,Vila A,Monnier N

    更新日期：1995-02-01 00:00:00

  • Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.

    abstract：:Molecular analysis of the human beta-galactosidase gene revealed six different mutations in 10 of 11 Japanese GM1-gangliosidosis patients. They were the only abnormalities in each allele examined in this study. A 165-nucleotide duplication (positions 1103-1267) was found in two infantile patients, producing an abnorma...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Yoshida K,Oshima A,Shimmoto M,Fukuhara Y,Sakuraba H,Yanagisawa N,Suzuki Y

    更新日期：1991-08-01 00:00:00

  • A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene.

    abstract：:The Huntington disease (HD) gene has been mapped to the most distal subband of chromosome 4p. Analysis of recombination events has not provided an unequivocal location of the HD gene, but it indicates a position very close to the telomere as one possibility. We have constructed a yeast artificial chromosome (YAC) vect...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Bates GP,MacDonald ME,Baxendale S,Sedlacek Z,Youngman S,Romano D,Whaley WL,Allitto BA,Poustka A,Gusella JF

    更新日期：1990-04-01 00:00:00

  • Meiotic recombination and spatial proximity in the etiology of the recurrent t(11;22).

    abstract：:Although balanced translocations are among the most common human chromosomal aberrations, the constitutional t(11;22)(q23;q11) is the only known recurrent non-Robertsonian translocation. Evidence indicates that de novo formation of the t(11;22) occurs during meiosis. To test the hypothesis that spatial proximity of ch...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/507652

    authors： Ashley T,Gaeth AP,Inagaki H,Seftel A,Cohen MM,Anderson LK,Kurahashi H,Emanuel BS

    更新日期：2006-09-01 00:00:00

  • New founder haplotypes at the myotonic dystrophy locus in southern Africa.

    abstract：:The association between normal alleles at the CTG repeat and two nearby polymorphisms in the myotonin protein kinase gene, the Alu insertion/deletion polymorphism and the myotonic dystrophy kinase (DMK)(G/T) intron 9/HinfI polymorphism, has been analyzed in South African Negroids, a population in which myotonic dystro...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Goldman A,Ramsay M,Jenkins T

    更新日期：1995-06-01 00:00:00

  • Evidence that specific mtDNA point mutations may not accumulate in skeletal muscle during normal human aging.

    abstract：:It is unclear at present whether specific mtDNA point mutations accumulate during normal human aging. In order to address this question, we used quantitative PCR of total DNA isolated from skeletal muscle from normal individuals of various ages to search for the presence and amount of spontaneous mtDNA point mutations...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Pallotti F,Chen X,Bonilla E,Schon EA

    更新日期：1996-09-01 00:00:00

  • Cytogenetic and molecular analysis of sex-chromosome monosomy.

    abstract：:X chromosome- and Y chromosome-specific DNA probes were used to study different aspects of the genesis of sex-chromosome monosomy. Using X-linked RFLPs, we studied the parental origin of the single X chromosome in 35 spontaneously aborted and five live-born 45,X conceptions. We determined the origin in 35 cases; 28 ha...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Hassold T,Benham F,Leppert M

    更新日期：1988-04-01 00:00:00

  • Functional complementation of a genetic deficiency with human artificial chromosomes.

    abstract：:We have shown functional complementation of a genetic deficiency in human cultured cells, using artificial chromosomes derived from cloned human genomic fragments. A 404-kb human-artificial-chromosome (HAC) vector, consisting of 220 kb of alphoid DNA from the centromere of chromosome 17, human telomeres, and the hypox...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/321977

    authors： Mejía JE,Willmott A,Levy E,Earnshaw WC,Larin Z

    更新日期：2001-08-01 00:00:00

  • PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases.

    abstract：:Recently, to speed up the differential-diagnosis process based on symptoms and signs observed from an affected individual in the diagnosis of rare diseases, researchers have developed and implemented phenotype-driven differential-diagnosis systems. The performance of those systems relies on the quantity and quality of...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2018.08.003

    authors： Fujiwara T,Yamamoto Y,Kim JD,Buske O,Takagi T

    更新日期：2018-09-06 00:00:00

  • Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.

    abstract：:Ehlers-Danlos syndrome (EDS) type IV is a dominantly inherited disorder that results from mutations in the type III collagen gene (COL3A1). We studied the structure of the COL3A1 gene of an individual with EDS type IV and that of her phenotypically normal parents. The proband was heterozygous for a 2-kb deletion in CO...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Milewicz DM,Witz AM,Smith AC,Manchester DK,Waldstein G,Byers PH

    更新日期：1993-07-01 00:00:00

  • Mucopolysaccharide accumulation in cultured skin fibroblasts derived from patients with mucolipidosis IV.

    abstract：:Increased concentrations of total sulfated mucopolysaccharides (MPS), threefold, and hyaluronic acid (HA), 10-fold, were found in ML IV fibroblast extracts when compared to normal controls. Such accumulations altered the distribution of MPS:HA comprised 70% of total MPS in ML IV but only 30% in control cells. Intracel...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Bach G,Ziegler M,Kohn G,Cohen MM

    更新日期：1977-11-01 00:00:00

  • Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.

    abstract：:Interleukin-12 (IL12) is a cytokine that is secreted by activated phagocytes and dendritic cells and that induces interferon-gamma production by natural-killer and T lymphocytes. It consists of two subunits, p35 and p40, which are encoded by IL12A and IL12B, respectively. The first reported patient with a genetic cyto...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/338625

    authors： Picard C,Fieschi C,Altare F,Al-Jumaah S,Al-Hajjar S,Feinberg J,Dupuis S,Soudais C,Al-Mohsen IZ,Génin E,Lammas D,Kumararatne DS,Leclerc T,Rafii A,Frayha H,Murugasu B,Wah LB,Sinniah R,Loubser M,Okamoto E,Al-Ghonaium

    更新日期：2002-02-01 00:00:00

  • A genomewide search for quantitative-trait loci underlying asthma.

    abstract：:A genomewide screen for quantitative-trait loci (QTLs) that underlie asthma was performed on 533 Chinese families with asthma, by the unified Haseman-Elston method. Nine asthma-related phenotypes were studied, including forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC), airway responsiveness as indic...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/324650

    authors： Xu X,Fang Z,Wang B,Chen C,Guang W,Jin Y,Yang J,Lewitzky S,Aelony A,Parker A,Meyer J,Weiss ST,Xu X

    更新日期：2001-12-01 00:00:00