当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > The effect of methionine and 5-azacytidine on fragile X expression.

The effect of methionine and 5-azacytidine on fragile X expression.

Abstract：

:The cellular mechanism for the expression of the fragile site at Xq28 is unknown. We tested the effect of 5-azacytidine and methionine on fragile X expression in lymphocytes and lymphoblastoid cells in an attempt to determine if DNA methylation was involved. We were unable to demonstrate a consistent dosage effect of methionine on fragile X expression. While 5-azacytidine was found to inhibit the fragile X in both males and females, it did so only at relatively high concentrations. We conclude that the role, if any, of DNA methylation in fragile X expression is likely to be secondary, the primary effect being due to thymidylate depletion.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Abruzzo MA,Mayer M,Jacobs PA

subject

Has Abstract

pub_date

1985-01-01 00:00:00

pages

193-8

issue

1

eissn

0002-9297

issn

1537-6605

journal_volume

37

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome Iq.

    abstract：:Van der Woude syndrome (VWS) is an autosomal dominant disorder in which affected individuals have one or more of the following manifestations: cleft lip, cleft palate, hypodontia, or paramedian lower-lip pits. VWS is a well-characterized example of a single-gene abnormality that disturbs normal craniofacial morphogene...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Murray JC,Nishimura DY,Buetow KH,Ardinger HH,Spence MA,Sparkes RS,Falk RE,Falk PM,Gardner RJ,Harkness EM

    更新日期：1990-03-01 00:00:00

  • A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel.

    abstract：:Catecholamine-induced polymorphic ventricular tachycardia (PVT) is characterized by episodes of syncope, seizures, or sudden death, in response to physical activity or emotional stress. Two modes of inheritance have been described: autosomal dominant and autosomal recessive. Mutations in the ryanodine receptor 2 gene ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/324565

    authors： Lahat H,Pras E,Olender T,Avidan N,Ben-Asher E,Man O,Levy-Nissenbaum E,Khoury A,Lorber A,Goldman B,Lancet D,Eldar M

    更新日期：2001-12-01 00:00:00

  • Gain-of-function mutations in SCN11A cause familial episodic pain.

    abstract：:Many ion channel genes have been associated with human genetic pain disorders. Here we report two large Chinese families with autosomal-dominant episodic pain. We performed a genome-wide linkage scan with microsatellite markers after excluding mutations in three known genes (SCN9A, SCN10A, and TRPA1) that cause simila...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2013.09.016

    authors： Zhang XY,Wen J,Yang W,Wang C,Gao L,Zheng LH,Wang T,Ran K,Li Y,Li X,Xu M,Luo J,Feng S,Ma X,Ma H,Chai Z,Zhou Z,Yao J,Zhang X,Liu JY

    更新日期：2013-11-07 00:00:00

  • Characterization of beta-D-galactosidase isolated from I-cell disease liver.

    abstract：:The residual beta-D-galactosidase activity (10% of normal) present in an autopsy sample of liver derived from an I-cell patient has been characterized. The pH optima for both I-cell and normal acid 4-methylumbelliferyl beta-D-galactoside activities were 4.35. The adsorption and elution profiles of the I-cell enzyme fr...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Holmes EW,Miller AL,Frost RG,O'Brien JS

    更新日期：1975-11-01 00:00:00

  • Whole-genome screening in ankylosing spondylitis: evidence of non-MHC genetic-susceptibility loci.

    abstract：:Ankylosing spondylitis (AS) is a common inflammatory arthritis predominantly affecting the axial skeleton. Susceptibility to the disease is thought to be oligogenic. To identify the genes involved, we have performed a genomewide scan in 185 families containing 255 affected sibling pairs. Two-point and multipoint nonpa...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/319509

    authors： Laval SH,Timms A,Edwards S,Bradbury L,Brophy S,Milicic A,Rubin L,Siminovitch KA,Weeks DE,Calin A,Wordsworth BP,Brown MA

    更新日期：2001-04-01 00:00:00

  • Genome-wide insights into the patterns and determinants of fine-scale population structure in humans.

    abstract：:Studying genomic patterns of human population structure provides important insights into human evolutionary history and the relationship among populations, and it has significant practical implications for disease-gene mapping. Here we describe a principal component (PC)-based approach to studying intracontinental pop...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2009.04.015

    authors： Biswas S,Scheinfeldt LB,Akey JM

    更新日期：2009-05-01 00:00:00

  • The anonymous polymorphic DNA clone D1S1, previously mapped to human chromosome 1p36 by in situ hybridization, is from chromosome 3 and is duplicated on chromosome 1.

    abstract：:D1S1, a human anonymous DNA clone originally called lambda Ch4A-H3 or lambda H3, was mapped by two other laboratories to human chromosome 1p36 by in situ hybridization but its localization was not confirmed using a different mapping method. We used a panel of human-hamster somatic cell hybrids to show that there are c...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Goode ME,vanTuinen P,Ledbetter DH,Daiger SP

    更新日期：1986-04-01 00:00:00

  • Sequence and localization of a partial cDNA encoding the human alpha 3 chain of type IV collagen.

    abstract：:A novel type IV collagen, alpha 3(IV), has recently been identified in human and bovine basement membranes. Here we describe the cloning and sequencing of a cDNA encoding 218 residues of the NC1 domain of the human alpha 3(IV) chain. Of interest is the possible role of abnormalities of the alpha 3(IV) chain in Alport ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Morrison KE,Mariyama M,Yang-Feng TL,Reeders ST

    更新日期：1991-09-01 00:00:00

  • Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.

    abstract：:Acrodysostosis is a rare autosomal-dominant condition characterized by facial dysostosis, severe brachydactyly with cone-shaped epiphyses, and short stature. Moderate intellectual disability and resistance to multiple hormones might also be present. Recently, a recurrent mutation (c.1102C>T [p.Arg368*]) in PRKAR1A has...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.03.003

    authors： Michot C,Le Goff C,Goldenberg A,Abhyankar A,Klein C,Kinning E,Guerrot AM,Flahaut P,Duncombe A,Baujat G,Lyonnet S,Thalassinos C,Nitschke P,Casanova JL,Le Merrer M,Munnich A,Cormier-Daire V

    更新日期：2012-04-06 00:00:00

  • Recessive inheritance of a relative fat pattern.

    abstract：:We defined a relative-fat-pattern index (RFPI) as the ratio of subscapular skinfold thickness to the sum of subscapular and suprailiac skinfold thicknesses and computed RFPI for 774 adults (age greater than or equal to 25 years) in 59 pedigrees ascertained through cases of cardiovascular disease. Likelihood analysis o...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Hasstedt SJ,Ramirez ME,Kuida H,Williams RR

    更新日期：1989-12-01 00:00:00

  • Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH.

    abstract：:Deletions of the long arm of chromosome 18 occur in approximately 1 in 10,000 live births. Congenital aural atresia (CAA), or narrow external auditory canals, occurs in approximately 66% of all patients who have a terminal deletion 18q. The present report describes a series of 20 patients with CAA, of whom 18 had micr...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/375695

    authors： Veltman JA,Jonkers Y,Nuijten I,Janssen I,van der Vliet W,Huys E,Vermeesch J,Van Buggenhout G,Fryns JP,Admiraal R,Terhal P,Lacombe D,van Kessel AG,Smeets D,Schoenmakers EF,van Ravenswaaij-Arts CM

    更新日期：2003-06-01 00:00:00

  • Genetics of acheiropodia (the handless and footless families of Brazil). VI. Formal genetic analysis.

    abstract：:A genetic analysis is presented of data from 22 Brazilian sibships with cases of acheiropodia (the handless and footless families of Brazil). Segregation analysis performed using a 16K CDC 3100 computer showed a segregation frequency of .245 +/- .040, which is close to the expected value of .25. No sporadic cases wer...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Freire-Maia A,Freire-Maia N,Morton NE,Azevêdo ES,Quelce-Salgado A

    更新日期：1975-07-01 00:00:00

  • Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993.

    abstract：:Mitochondrial genetics is complicated by heteroplasmy, or mutant load, which may be from 1%-99%, and thus may produce a gene dosage-type effect. Limited data are available for genotype/phenotype correlations in disorders caused by mtDNA mutations; therefore, prenatal diagnosis for mtDNA mutations has been hindered by ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302488

    authors： White SL,Collins VR,Wolfe R,Cleary MA,Shanske S,DiMauro S,Dahl HH,Thorburn DR

    更新日期：1999-08-01 00:00:00

  • Localization of human gene loci using spontaneous chromosome rearrangements in human-Chinese hamster somatic cell hybrids.

    abstract：:Analysis of human-Chinese hamster somatic cell hybrids with spontaneously derived chromosome structural changes has provided data for the regional and subregional localization of gene loci which have previously been assigned to human chromosomes 2, 12, and X. Correlation of the expression of human gene loci with the h...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Hamerton JL,Mohandas T,McAlpine J

    更新日期：1975-09-01 00:00:00

  • The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in whites, Japanese, and Africans.

    abstract：:The common 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism causes decreased activity of this enzyme and can be associated with mild-to-moderate hyperhomocysteinemia in homozygotes, particularly when there is folic acid deficiency, as well as with vascular dementia, arterial thrombosis, venous throm...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/338932

    authors： Rosenberg N,Murata M,Ikeda Y,Opare-Sem O,Zivelin A,Geffen E,Seligsohn U

    更新日期：2002-03-01 00:00:00

  • The extent of linkage disequilibrium in four populations with distinct demographic histories.

    abstract：:The design and feasibility of whole-genome-association studies are critically dependent on the extent of linkage disequilibrium (LD) between markers. Although there has been extensive theoretical discussion of this, few empirical data exist. The authors have determined the extent of LD among 38 biallelic markers with ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/316906

    authors： Dunning AM,Durocher F,Healey CS,Teare MD,McBride SE,Carlomagno F,Xu CF,Dawson E,Rhodes S,Ueda S,Lai E,Luben RN,Van Rensburg EJ,Mannermaa A,Kataja V,Rennart G,Dunham I,Purvis I,Easton D,Ponder BA

    更新日期：2000-12-01 00:00:00

  • In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

    abstract：:Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical facial dysmorphism, and craniosynostosis. Using family-based exome sequencing, we identified a dominantly inherited heterozygous in-frame deletion in exon 1 of SKI. Direct sequencing of SKI ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.10.002

    authors： Carmignac V,Thevenon J,Adès L,Callewaert B,Julia S,Thauvin-Robinet C,Gueneau L,Courcet JB,Lopez E,Holman K,Renard M,Plauchu H,Plessis G,De Backer J,Child A,Arno G,Duplomb L,Callier P,Aral B,Vabres P,Gigot N,Arbu

    更新日期：2012-11-02 00:00:00

  • Genomewide scan and fine-mapping linkage studies in four European samples with bipolar affective disorder suggest a new susceptibility locus on chromosome 1p35-p36 and provides further evidence of loci on chromosome 4q31 and 6q24.

    abstract：:We present the findings of a large linkage study of bipolar affective disorder (BPAD) that involved genomewide analysis of 52 families (448 genotyped individuals) of Spanish, Romany, and Bulgarian descent and further fine mapping of the 1p34-p36, 4q28-q31, and 6q15-q24 regions. An additional sample of 56 German famili...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/498619

    authors： Schumacher J,Kaneva R,Jamra RA,Diaz GO,Ohlraun S,Milanova V,Lee YA,Rivas F,Mayoral F,Fuerst R,Flaquer A,Windemuth C,Gay E,Sanz S,González MJ,Gil S,Cabaleiro F,del Rio F,Perez F,Haro J,Kostov C,Chorbov V,Nikolo

    更新日期：2005-12-01 00:00:00

  • Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.

    abstract：:Glycosylphosphatidylinositol (GPI)-anchored proteins are critical for embryogenesis, neurogenesis, and cell signaling. Variants in several genes participating in GPI biosynthesis and processing lead to decreased cell surface presence of GPI-anchored proteins (GPI-APs) and cause inherited GPI deficiency disorders (IGDs...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2020.03.001

    authors： Nguyen TTM,Murakami Y,Mobilio S,Niceta M,Zampino G,Philippe C,Moutton S,Zaki MS,James KN,Musaev D,Mu W,Baranano K,Nance JR,Rosenfeld JA,Braverman N,Ciolfi A,Millan F,Person RE,Bruel AL,Thauvin-Robinet C,Ververi A

    更新日期：2020-04-02 00:00:00

  • Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15.

    abstract：:X-linked forms of retinitis pigmentosa (XLRP) are among the most severe, because of their early onset, often leading to significant vision loss before the 4th decade. Previously, the RP15 locus was assigned to Xp22, by linkage analysis of a single pedigree with "X-linked dominant cone-rod degeneration." After clinical...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/303091

    authors： Mears AJ,Hiriyanna S,Vervoort R,Yashar B,Gieser L,Fahrner S,Daiger SP,Heckenlively JR,Sieving PA,Wright AF,Swaroop A

    更新日期：2000-10-01 00:00:00

  • De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.

    abstract：:Intellectual disability (ID) is a highly heterogeneous disorder involving at least 600 genes, yet a genetic diagnosis remains elusive in ∼35%-40% of individuals with moderate to severe ID. Recent meta-analyses statistically analyzing de novo mutations in >7,000 individuals with neurodevelopmental disorders highlighted...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2017.02.005

    authors： Jansen S,Geuer S,Pfundt R,Brough R,Ghongane P,Herkert JC,Marco EJ,Willemsen MH,Kleefstra T,Hannibal M,Shieh JT,Lynch SA,Flinter F,FitzPatrick DR,Gardham A,Bernhard B,Ragge N,Newbury-Ecob R,Bernier R,Kvarnung M,Mag

    更新日期：2017-04-06 00:00:00

  • Effect of reproductive compensation and the desire to have male offspring on the incidence of a sex-linked lethal disease.

    abstract：:The effects of reproductive compensation on an X-linked recessive lethal are examined. Complete compensation without regard to the sex of the offspring increases the incidence of female carriers by a factor of 1.5, and of affected males by 1.33. However, if families reproduce until they have a healthy male offspring, ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Templeton AR,Yokoyama S

    更新日期：1980-07-01 00:00:00

  • Cowden syndrome-affected patients with PTEN promoter mutations demonstrate abnormal protein translation.

    abstract：:Germline mutations of PTEN (phosphatase and tensin homolog deleted on chromosome 10) are associated with the multihamartomatous disorder Cowden syndrome (CS). Moreover, patients with CS with germline PTEN promoter mutations have aberrant PTEN protein expression and an increased frequency of breast cancer. Here, we exa...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,多中心研究

    doi：10.1086/521051

    authors： Teresi RE,Zbuk KM,Pezzolesi MG,Waite KA,Eng C

    更新日期：2007-10-01 00:00:00

  • Multiple origins for phenylketonuria in Europe.

    abstract：:Phenylketonuria (PKU), a disorder of amino acid metabolism prevalent among Caucasians and other ethnic groups, is caused primarily by a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH). PKU is a highly heterogeneous disorder, with more than 60 molecular lesions identified in the PAH gene. The haplotype...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Eisensmith RC,Okano Y,Dasovich M,Wang T,Güttler F,Lou H,Guldberg P,Lichter-Konecki U,Konecki DS,Svensson E

    更新日期：1992-12-01 00:00:00

  • NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.

    abstract：:Two familial and seven sporadic patients with neurofibromatosis 1-who showed dysmorphism, learning disabilities/mental retardation, and additional signs and carried deletions of the NF1 gene-were investigated by use of a two-step FISH approach to characterize the deletions. With FISH of YAC clones belonging to a 7-Mb ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302709

    authors： Riva P,Corrado L,Natacci F,Castorina P,Wu BL,Schneider GH,Clementi M,Tenconi R,Korf BR,Larizza L

    更新日期：2000-01-01 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

  • Patterns of maternal transmission in bipolar affective disorder.

    abstract：:The mode of inheritance of bipolar affective disorder (BPAD) appears complex, and non-Mendelian models of inheritance have been postulated. Two non-Mendelian phenomena, genomic imprinting and mitochondrial inheritance, may contribute to the complex inheritance pattern seen in BPAD. Both imprinting and mitochondrial in...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： McMahon FJ,Stine OC,Meyers DA,Simpson SG,DePaulo JR

    更新日期：1995-06-01 00:00:00

  • Localization of the human procollagen alpha 1(IV) gene to chromosome 13q34 by in situ hybridization.

    abstract：:Type IV (alpha 1 and alpha 2 chains) appears to be the only procollagen present in basement membranes. The structure of this protein is highly divergent from the interstitial and type V procollagens as exemplified by the interruptions in the Gly-X-Y region and unprocessed amino and carboxyl noncollagenous peptides. To...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Emanuel BS,Sellinger BT,Gudas LJ,Myers JC

    更新日期：1986-01-01 00:00:00

  • Integrating GWASs and human protein interaction networks identifies a gene subnetwork underlying alcohol dependence.

    abstract：:Despite a significant genetic contribution to alcohol dependence (AD), few AD-risk genes have been identified to date. In the current study, we aimed to integrate genome-wide association studies (GWASs) and human protein interaction networks to investigate whether a subnetwork of genes whose protein products interact ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2013.10.021

    authors： Han S,Yang BZ,Kranzler HR,Liu X,Zhao H,Farrer LA,Boerwinkle E,Potash JB,Gelernter J

    更新日期：2013-12-05 00:00:00

  • A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.

    abstract：:Osteogenesis imperfecta (OI) is a heterogenous group of genetic disorders of bone fragility. OI type V is an autosomal-dominant disease characterized by calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation; the causativ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.06.005

    authors： Cho TJ,Lee KE,Lee SK,Song SJ,Kim KJ,Jeon D,Lee G,Kim HN,Lee HR,Eom HH,Lee ZH,Kim OH,Park WY,Park SS,Ikegawa S,Yoo WJ,Choi IH,Kim JW

    更新日期：2012-08-10 00:00:00