当前位置： SCI文献检索 > MOLECULAR GENETICS AND METABOLISM期刊下所有文献 > Increased expression of anti-apoptosis genes in peripheral blood cells from patients with paroxysmal nocturnal hemoglobinuria.

Increased expression of anti-apoptosis genes in peripheral blood cells from patients with paroxysmal nocturnal hemoglobinuria.

Abstract：

:Resistance to apoptosis has been described in neutrophils from patients with PNH and related hematologic disorders (aplastic anemia, myelodysplastic syndrome), but its molecular basis is not understood. Using gene expression analysis, PNH granulocytes had relative overexpression of four anti-apoptosis genes (human A1, hHR23B, Mcl-1, and RhoA) compared to normal controls. These findings were confirmed by RT-PCR analysis and observed in both peripheral blood granulocytes and mononuclear cells of patients with PNH. Anti-apoptosis gene upregulation may confer resistance to apoptosis in PNH and related disorders, and provide a common compensatory mechanism after bone marrow injury that allows survival and growth of remaining hematopoietic stem cells.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Heeney MM,Ormsbee SM,Moody MA,Howard TA,DeCastro CM,Ware RE

doi

10.1016/s1096-7192(03)00047-7

subject

Has Abstract

pub_date

2003-04-01 00:00:00

pages

291-4

issue

4

eissn

1096-7192

issn

1096-7206

pii

S1096719203000477

journal_volume

78

pub_type

杂志文章

相关文献

MOLECULAR GENETICS AND METABOLISM文献大全
  • Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis.

    abstract：:We report a patient from a consanguineous family who presented with transient acute liver failure and biochemical patterns suggestive of disturbed urea cycle and mitochondrial function, for whom conventional genetic and metabolic investigations for acute liver failure failed to yield a diagnosis. Whole exome sequencin...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2016.03.001

    authors： Santra S,Cameron JM,Shyr C,Zhang L,Drögemöller B,Ross CJ,Wasserman WW,Wevers RA,Rodenburg RJ,Gupte G,Preece MA,van Karnebeek CD

    更新日期：2016-05-01 00:00:00

  • P53 and IGFBP-3: apoptosis and cancer protection.

    abstract：:p53, perhaps the single most important human tumor suppressor, is commonly mutated in human cancers. Normally genotoxic stress and hypoxia activate p53, which, through DNA-specific transcription activation, transcriptional repression, and protein-protein interactions, triggers cell cycle arrest and apoptosis. One of t...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1006/mgme.2000.3008

    authors： Grimberg A

    更新日期：2000-06-01 00:00:00

  • Enhanced placental cholesterol efflux by fetal HDL in Smith-Lemli-Opitz syndrome.

    abstract：:Previous studies from this laboratory have shown that maternal-derived cholesterol can be effluxed from trophoblasts to fetal HDL and plasma. We had the opportunity to study for the first time the ability of HDL and plasma from a fetus with the Smith-Lemli-Opitz syndrome (SLOS) to efflux cholesterol from trophoblasts....

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2008.01.015

    authors： Jenkins KT,Merkens LS,Tubb MR,Myatt L,Davidson WS,Steiner RD,Woollett LA

    更新日期：2008-06-01 00:00:00

  • A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome).

    abstract：OBJECTIVE:To evaluate the safety and explore the efficacy of idursulfase (recombinant human iduronate-2-sulfatase) treatment for mucopolysaccharidosis II (MPS II). STUDY DESIGN:Twelve patients were enrolled into a randomized, double-blind, placebo-controlled trial for 24 weeks followed by an open-label extension study...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,随机对照试验

    doi：10.1016/j.ymgme.2006.09.001

    authors： Muenzer J,Gucsavas-Calikoglu M,McCandless SE,Schuetz TJ,Kimura A

    更新日期：2007-03-01 00:00:00

  • Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability.

    abstract：:Glycogen storage disease type Ia (GSD-Ia) is caused by deleterious mutations in the glucose-6-phosphatase gene (G6PC). A molecular study of this gene was carried out in 11 Argentinean patients from 8 unrelated families. Four missense (p.Gln54Pro, p.Arg83Cys, p.Thr16Arg, and p.Tyr209Cys) and one deletion (c.79delC) mut...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2004.06.010

    authors： Angaroni CJ,de Kremer RD,Argaraña CE,Paschini-Capra AE,Giner-Ayala AN,Pezza RJ,Pan CJ,Chou JY

    更新日期：2004-11-01 00:00:00

  • Bone marrow transplantation increases efficacy of central nervous system-directed enzyme replacement therapy in the murine model of globoid cell leukodystrophy.

    abstract：:Globoid cell leukodystrophy (GLD, Krabbe disease), is an autosomal recessive, neurodegenerative disease caused by the deficiency of the lysosomal enzyme galactocerebrosidase (GALC). In the absence of GALC, the toxic metabolite psychosine accumulates in the brain and causes the death of the myelin-producing cells, olig...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2012.05.021

    authors： Qin EY,Hawkins-Salsbury JA,Jiang X,Reddy AS,Farber NB,Ory DS,Sands MS

    更新日期：2012-09-01 00:00:00

  • Disorders of purine and pyrimidine metabolism.

    abstract：:The disorders of purine and pyrimidine metabolism are unusual in their variety of clinical presentations and in the mechanisms by which these presentations result from the fundamental mutations. In the most common of the hyperuricemic metabolic disorders, deficiency of hypoxanthine phosphoribosyl transferase, the fund...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1016/j.ymgme.2005.07.027

    authors： Nyhan WL

    更新日期：2005-09-01 00:00:00

  • RNA-Seq analysis in an avian model of maternal phenylketonuria.

    abstract：:Cardiac malformations (CVMs) are a leading cause of infant morbidity and mortality. CVMs are particularly prevalent when the developing fetus is exposed to high levels of phenylalanine in-utero in mothers with Phenylketonuria. Yet, elucidating the underlying molecular mechanism leading to CVMs has proven difficult. In...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2018.09.003

    authors： Watson JN,Seagraves NJ

    更新日期：2019-01-01 00:00:00

  • The functions of RPS19 and their relationship to Diamond-Blackfan anemia: a review.

    abstract：:The relatively new study of ribosomal proteins has allowed for greater understanding of protein synthesis; however the connection between ribosomal proteins' roles and that of disease pathophysiology has not yet been established. RPS19 is a ribosomal protein linked to Diamond-Blackfan anemia whose functions have begun...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1016/j.ymgme.2006.11.004

    authors： Morimoto K,Lin S,Sakamoto K

    更新日期：2007-04-01 00:00:00

  • Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.

    abstract：:2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency, also known as beta-ketothiolase deficiency, is an inborn error of ketone body utilization and isoleucine catabolism. It is caused by mutations in the ACAT1 gene and may present with metabolic ketoacidosis. In order to obtain a more comprehensive view on this di...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2017.06.012

    authors： Grünert SC,Schmitt RN,Schlatter SM,Gemperle-Britschgi C,Balcı MC,Berg V,Çoker M,Das AM,Demirkol M,Derks TGJ,Gökçay G,Uçar SK,Konstantopoulou V,Christoph Korenke G,Lotz-Havla AS,Schlune A,Staufner C,Tran C,Visser G,S

    更新日期：2017-09-01 00:00:00

  • Systemic accumulation of undigested lysosomal metabolites in an autopsy case of mucolipidosis type II; autophagic dysfunction in cardiomyocyte.

    abstract：:Mucolipidosis type II is an autosomal recessive lysosomal storage disease caused by N-acetylglucosamine-1-phosphotransferese deficiency. We report here pathological findings of an autopsy case of mucolipidosis type II. The patient was an 8-year-old boy with mucolipidosis type II and was complicated with hypertrophic c...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2014.05.001

    authors： Sato Y,Kobayashi H,Sato S,Shimada Y,Fukuda T,Eto Y,Ohashi T,Ida H

    更新日期：2014-07-01 00:00:00

  • Experience, knowledge, and opinions about childhood genetic testing in Batten disease.

    abstract：BACKGROUND AND OBJECTIVES:Policies for genetic testing in children (GTIC) focus on medical or psychosocial benefit to the child, discouraging or prohibiting carrier testing, and advising caution regarding pre-symptomatic diagnosis if no treatment exists. This study sought to understand parents' perspectives on these is...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2013.10.017

    authors： Adams HR,Rose K,Augustine EF,Kwon JM,deBlieck EA,Marshall FJ,Vierhile A,Mink JW,Nance MA

    更新日期：2014-02-01 00:00:00

  • Molecular screening of the human glutamine-fructose-6-phosphate amidotransferase 1 (GFPT1) gene and association studies with diabetes and diabetic nephropathy.

    abstract：:Increased glucose metabolism through the hexosamine pathway may result in insulin resistance, impaired insulin secretion, and diabetic nephropathy. We hypothesized that variants of GFPT1 encoding glutamine-fructose-6-phosphate amidotransferase, the rate limiting enzyme in this pathway, could increase GFPT1 gene expres...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2004.05.004

    authors： Elbein SC,Zheng H,Jia Y,Chu W,Cooper JJ,Hale T,Zhang Z

    更新日期：2004-08-01 00:00:00

  • Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention.

    abstract：:Pompe Disease (PD) is a lysosomal storage disease caused by acid α-glucosidase deficiency. The infantile form typically results in death in the first year of life. Patient survival has improved with enzyme replacement therapy (ERT), but new complications are being recognized. We report three cases of infantile onset P...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2012.11.013

    authors： Tan QK,Cheah SM,Dearmey SM,Kishnani PS

    更新日期：2013-02-01 00:00:00

  • Exclusion of SOX9 as the testis determining factor in Ellobius lutescens: evidence for another testis determining gene besides SRY and SOX9.

    abstract：:In mammals the initiation of testis determination usually depends on the Y-chromosomal gene SRY. A few species, however, escape from this rule with a testis determination that is independent of SRY. The mole vole Ellobius lutescens is one of these species. It is not known how testis determination is initiated in this ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.2000.3105

    authors： Baumstark A,Akhverdyan M,Schulze A,Reisert I,Vogel W,Just W

    更新日期：2001-01-01 00:00:00

  • Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease.

    abstract：:Mechanisms producing the divergent phenotypes, Wolman disease (WD) and cholesterol ester storage disease (CESD), associated with the genetic deficiency of human lysosomal acid lipase/cholesterol ester hydrolase (hLAL) function were investigated with the determination of HLAL activity levels, mRNA and protein expressio...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.1999.2904

    authors： Anderson RA,Bryson GM,Parks JS

    更新日期：1999-11-01 00:00:00

  • Plasma total homocysteine concentrations in adults with growth hormone (GH) deficiency: effects of GH replacement.

    abstract：:Growth hormone (GH) deficiency is associated with increased cardiovascular morbidity and mortality. GH treatment improves the profile of many cardiovascular risk markers in individuals with GH deficiency (GHD). The aim of the present was to assess whether GH replacement may decrease plasma total homocysteine, an indep...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2003.08.020

    authors： Lewandowski KC,Murray RD,Drzewoski J,O'Callaghan CJ,Czupryniak L,Hillhouse EW,Shalet SM,Randeva HS

    更新日期：2003-11-01 00:00:00

  • Long circulating enzyme replacement therapy rescues bone pathology in mucopolysaccharidosis VII murine model.

    abstract：:Mucopolysaccharidosis (MPS) type VII is a lysosomal storage disease caused by deficiency of the lysosomal enzyme β-glucuronidase (GUS), leading to accumulation of glycosaminoglycans (GAGs). Enzyme replacement therapy (ERT) effectively clears GAG storage in the viscera. Recent studies showed that a chemically modified ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2012.07.002

    authors： Rowan DJ,Tomatsu S,Grubb JH,Haupt B,Montaño AM,Oikawa H,Sosa AC,Chen A,Sly WS

    更新日期：2012-09-01 00:00:00

  • Improvement in behaviour after substrate deprivation therapy with rhodamine B in a mouse model of MPS IIIA.

    abstract：:Mucopolysaccharidosis type IIIA (MPS IIIA) is a specific lysosomal storage disorder caused by an enzyme deficiency in sulphamidase, which is required for the degradation of heparan sulphate glycosaminoglycan (gag). This deficiency results in widespread gag storage and leads to severe CNS degeneration and mild somatic ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2007.06.016

    authors： Roberts AL,Rees MH,Klebe S,Fletcher JM,Byers S

    更新日期：2007-09-01 00:00:00

  • Incidence of maple syrup urine disease in Portugal.

    abstract：:Maple syrup urine disease is an autosomal recessive disorder of branched-chain amino acids metabolism with a worldwide frequency of 1/185,000 live newborns. In Portugal, the incidence of the disease has not been assessed. Based on the review of the cases diagnosed by tandem mass spectrometry an incidence of 1/86,800 l...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2010.04.007

    authors： Quental S,Vilarinho L,Martins E,Teles EL,Rodrigues E,Diogo L,Garcia P,Eusébio F,Gaspar A,Sequeira S,Amorim A,Prata MJ

    更新日期：2010-08-01 00:00:00

  • Metabolic pathway profiling of mitochondrial respiratory chain mutants in C. elegans.

    abstract：:Caenorhabditis elegans affords a model of primary mitochondrial dysfunction that provides insight into cellular adaptations which accompany mutations in nuclear genes that encode mitochondrial proteins. To this end, we characterized genome-wide expression profiles of C. elegans strains with mutations in nuclear-encode...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2007.11.007

    authors： Falk MJ,Zhang Z,Rosenjack JR,Nissim I,Daikhin E,Nissim I,Sedensky MM,Yudkoff M,Morgan PG

    更新日期：2008-04-01 00:00:00

  • Characterization of phytanic acid omega-hydroxylation in human liver microsomes.

    abstract：:Phytanic acid is a 3-methyl branched-chain fatty acid which originates from dietary sources. Since the 3-methyl group blocks regular beta-oxidation, it is broken down by peroxisomal alpha-oxidation. Adult Refsum disease patients accumulate phytanic acid as a result of an impairment in peroxisomal alpha-oxidation, caus...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2005.02.005

    authors： Komen JC,Duran M,Wanders RJ

    更新日期：2005-07-01 00:00:00

  • Evolutionary divergence of thyrotropin receptor structure.

    abstract：:The availability of 18 thyrotropin receptor (TSHR) sequences, including two recent entries for primates and seven from fish, have allowed us to investigate diversification of residues or domains during evolution. We used a likelihood ratio test for evolutionary rate shifts [Proc. Natl. Acad. Sci. 98 (2001) 14512] usin...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2004.01.010

    authors： Knudsen B,Farid NR

    更新日期：2004-04-01 00:00:00

  • Swallowing dysfunction in patients with nephropathic cystinosis.

    abstract：INTRODUCTION:Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Patients with nephropathic cystinosis suffer not only from renal disease but have also other systemic complications like myopathy and swallowing dysfunction. Dysphagia for solid food is me...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2019.01.011

    authors： van Rijssel AE,Knuijt S,Veys K,Levtchenko EN,Janssen MCH

    更新日期：2019-04-01 00:00:00

  • Therapeutic chaperone effect of N-octyl 4-epi-β-valienamine on murine G(M1)-gangliosidosis.

    abstract：:Therapeutic chaperone effect of a valienamine derivative N-octyl 4-epi-β-valienamine (NOEV) was studied in G(M1)-gangliosidosis model mice. Phamacokinetic analysis revealed rapid intestinal absorption and renal excretion after oral administration. Intracellular accumulation was not observed after continuous treatment....

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2012.02.012

    authors： Suzuki Y,Ichinomiya S,Kurosawa M,Matsuda J,Ogawa S,Iida M,Kubo T,Tabe M,Itoh M,Higaki K,Nanba E,Ohno K

    更新日期：2012-05-01 00:00:00

  • Simple and inexpensive quantification of ammonia in whole blood.

    abstract：:Quantification of ammonia in whole blood has applications in the diagnosis and management of many hepatic diseases, including cirrhosis and rare urea cycle disorders, amounting to more than 5 million patients in the United States. Current techniques for ammonia measurement suffer from limited range, poor resolution, f...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2015.04.004

    authors： Ayyub OB,Behrens AM,Heligman BT,Natoli ME,Ayoub JJ,Cunningham G,Summar M,Kofinas P

    更新日期：2015-06-01 00:00:00

  • Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis.

    abstract：:Mutations in DGUOK result in mitochondrial DNA (mtDNA) depletion and may present as neonatal liver failure. Neonatal hemochromatosis (NH(1)) is a liver disorder of uncertain and varied etiology characterized by hepatic and non-reticuloendothelial siderosis. To date, deoxyguanosine kinase (dGK(2)) deficiency has not be...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2011.03.006

    authors： Hanchard NA,Shchelochkov OA,Roy A,Wiszniewska J,Wang J,Popek EJ,Karpen S,Wong LJ,Scaglia F

    更新日期：2011-07-01 00:00:00

  • Diseases of ganglioside biosynthesis: An expanding group of congenital disorders of glycosylation.

    abstract：:Among the numerous congenital disorders of glycosylation concerning glycoproteins, only a single mutation in ganglioside biosynthesis had been reported until a few years ago: one in the ST3GAL5 gene, encoding GM3 synthase. More recently, additional mutations in the same gene were reported, together with several distin...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1016/j.ymgme.2018.06.014

    authors： Trinchera M,Parini R,Indellicato R,Domenighini R,dall'Olio F

    更新日期：2018-08-01 00:00:00

  • Cerebral folate deficiency: life-changing supplementation with folinic acid.

    abstract：:Cerebral folate deficiency is characterized by low cerebrospinal fluid (CSF) concentrations of 5-methyltetrahydrofolate and a broad spectrum of clinical signs and symptoms. A patient with progressive spasticity, gait disturbance, speech difficulties, initially diagnosed as a recessive spastic paraplegia recovered on f...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2004.12.001

    authors： Hansen FJ,Blau N

    更新日期：2005-04-01 00:00:00

  • Histochemical localization of palmitoyl protein thioesterase-1 activity.

    abstract：:Infantile neuronal ceroid lipofuscinosis (INCL, Infantile Batten disease) is an invariably fatal neurodegenerative pediatric disorder caused by an inherited mutation in the PPT1 gene. Patients with INCL lack the lysosomal enzyme palmitoyl protein thioesterase-1 (PPT1, EC 3.1.2.22), resulting in intracellular accumulat...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2015.11.004

    authors： Dearborn JT,Ramachandran S,Shyng C,Lu JY,Thornton J,Hofmann SL,Sands MS

    更新日期：2016-02-01 00:00:00