Hereditary high-adenosine triphosphate syndrome: study of a new variant.

Abstract:

:A new variant of hereditary hemolytic anemia in a family due to high adenosine triphosphate (ATP) is reported. The increase in ATP levels varied from 83 to 105% in the family members. Low 2,3-diphosphoglycerate levels and low 2,3-diphosphoglyceromutase activity were observed in three family members, with normal glucose-6-phosphate dehydrogenase and pyruvate kinase activity.

journal_name

Biochem Genet

journal_title

Biochemical genetics

authors

Bapat JP,Baxi AJ

doi

10.1007/BF00504264

subject

Has Abstract

pub_date

1981-10-01 00:00:00

pages

1017-22

issue

9-10

eissn

0006-2928

issn

1573-4927

journal_volume

19

pub_type

杂志文章
  • Cloning, expression, and genomic structure of a novel human Rap2 interacting gene (RPIP9).

    abstract::During a large-scale screen of a human fetal brain cDNA library, a full-length cDNA encoding a novel Rap2 interacting protein was isolated and sequenced. The cDNA is 3397bp long and has a predicted open reading frame encoding a protein of 329 aa. The predicted protein shows high homology to mouse and human RPIP8, and ...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1023/a:1020918411532

    authors: Wang S,Zhang Z,Ying K,Chen JZ,Meng XF,Yang QS,Xie Y,Mao YM

    更新日期:2003-02-01 00:00:00

  • Comparative studies of allozyme loci in Drosophila simulans and Drosophila melanogaster. I. Three dipeptidase loci.

    abstract::Genetic variation at three dipeptidase loci (Dip-A, Dip-B, and Dip-C) in Drosophila simulans was analyzed by starch gel electrophoresis. Dip-A was found to be polymorphic in four populations, while Dip-B and Dip-C were found to be polymorphic in one. The numbers of different alleles found at each respective locus were...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF00486138

    authors: Ohnishi S,Voelker RA

    更新日期:1981-02-01 00:00:00

  • Haplotype-based case-control study of the human CYP11B2 gene and essential hypertension in Yi and Hani minorities of China.

    abstract::This haplotype-based case-control study investigated whether the aldosterone synthase gene (CYP11B2) might be implicated in the pathogenesis of essential hypertension in Yi (226 individuals) and Hani (296 individuals) minorities of China. Four tag SNPs (rs4536, rs4545, rs3097, and rs3802230) and the K173R polymorphism...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/s10528-010-9393-5

    authors: Chen B,Nie S,Yue Z,Shou W,Xiao C

    更新日期:2011-02-01 00:00:00

  • Linkage analyses and biochemical genetics of sorbitol dehydrogenase-1 (Sdh-1) in the mouse.

    abstract::Electrophoretic variation of sorbitol dehydrogenase has been found in Mus musculus; the SDH-1 A phenotype migrates further toward the cathode under the conditions used than the SDH-1B phenotype. Mice with the SDH-1B phenotype have enzyme activity reduced to 25% of that found in mice with the SDH-1A phenotype, but no d...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF00498928

    authors: Andrews SJ,Peters J

    更新日期:1983-08-01 00:00:00

  • Down-Regulation of SIRT1 Expression by mir-23b Contributes to Lipid Accumulation in HepG2 Cells.

    abstract::Non-alcoholic fatty liver disease is one of the main causes of chronic liver disease and therefore is currently considered a major public health problem. Sirtuin 1 (SIRT1) is an NAD-dependent deacetylase enzyme that contributes in the regulation of metabolic processes and protects against lipid accumulation in hepatoc...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/s10528-019-09905-5

    authors: Borji M,Nourbakhsh M,Shafiee SM,Owji AA,Abdolvahabi Z,Hesari Z,Ilbeigi D,Seiri P,Yousefi Z

    更新日期:2019-08-01 00:00:00

  • Parallel evolution of the glycogen synthase 1 (muscle) gene Gys1 between Old World and New World fruit bats (Order: Chiroptera).

    abstract::Glycogen synthase, which catalyzes the synthesis of glycogen, is especially important for Old World (Pteropodidae) and New World (Phyllostomidae) fruit bats that ingest high-carbohydrate diets. Glycogen synthase 1, encoded by the Gys1 gene, is the glycogen synthase isozyme that functions in muscles. To determine wheth...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/s10528-014-9659-4

    authors: Fang L,Shen B,Irwin DM,Zhang S

    更新日期:2014-10-01 00:00:00

  • Genetic and developmental characterization of the aldox-2 locus of Drosophila melanogaster.

    abstract::The aldox-2 locus in Drosophila melanogaster has been shown to affect differentially three molybdoenzymes, aldehyde oxidase, pyridoxal oxidase, and xanthine dehydrogenase. These effects are most obvious at times surrounding the pupal-adult boundary, when the normal organism accumulates large amounts of these enzymes i...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF00499002

    authors: Meidinger RG,Bentley MM

    更新日期:1986-10-01 00:00:00

  • Electrophoretic variation at flight-related enzyme loci and its possible association with flight capacity in Epiphyas postvittana.

    abstract::Variations at three flight-related enzyme loci, delta-glycerophosphate dehydrogenase (delta-Gpdh), glucose-6-phosphate dehydrogenase (G6pd), and phosphoglucomutase (Pgm), of Epiphyas postvittana (Walker) moths were investigated using starch gel electrophoresis. Among the three enzyme loci, delta-Gpdh and G6pd were fou...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF00554142

    authors: Gu HN

    更新日期:1991-08-01 00:00:00

  • The selection and genetic analysis of esterase electromorphs in an organophosphate-resistant strain of Culex pipiens from Italy.

    abstract::An Italian organophosphate-resistant strain of Culex pipiens (Lucca) was found to be polymorphic for elevated and nonelevated esterases. Selection for high esterase activity produced a strain homozygous for elevated esterases A2 and B2. Selection for low activity produced a strain homozygous for nonelevated esterases,...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF02426878

    authors: Callaghan A,Hemingway J,Malcolm CA

    更新日期:1993-12-01 00:00:00

  • Autoregulation of testicular luteinizing hormone receptors in hypogonadal (hpg/hpg) mice.

    abstract::The autoregulation of testicular luteinizing hormone (LH) receptors was studied in hypogonadal (hpg/hpg) and normal mice. The basal concentration of LH receptors was more than three-fold higher in hpg/hpg than in normal mice. After injection of hCG, hpg/hpg mice showed a decrease in LH receptor levels which was not ob...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF00484511

    authors: Amador A,Parkening T,Beamer W,Bartke A,Collins TJ

    更新日期:1984-06-01 00:00:00

  • Genetics of a tissue esterase polymorphism (Est-6) in the rabbit (Oryctolagus cuniculus).

    abstract::Genetic analysis of a polymorphic tissue esterase revealed a new locus (Est-6) with two alleles (Est-6a and Est-6b) on linkage group VI of the rabbit. Est-6 is closely linked to the Est-1,2,4 cluster. Esterase of Est-6 is found in many organs, particularly in liver and small intestine, but not in erythrocytes and seru...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF00554543

    authors: van Zutphen LF,den Bieman MG,von Deimling O,Fox RR

    更新日期:1987-06-01 00:00:00

  • Molecular characterization of the pina gene in einkorn wheat.

    abstract::Fifty-six sequences encoding the pina protein were characterized from three species or subspecies of einkorn wheat. These sequences contained 1,595 nucleotides, including 1,270 conserved sites, 21 single nucleotide polymorphisms (SNPs), and 16 indels. The average frequency of SNPs and indels was one out of 76.1 and 99...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/s10528-009-9239-1

    authors: Chen Q,Qi PF,Wei YM,Wang JR,Zheng YL

    更新日期:2009-06-01 00:00:00

  • DNA Damage-Induced Foci of E2 Ubiquitin-Conjugating Enzyme are Detectable upon Co-transfection with an Interacting E3 Ubiquitin Ligase.

    abstract::DNA damage repair elements accumulate at DNA damage sites to form ionizing radiation-induced foci (IRIF) for damage repair. IRIF, which represent direct evidence of DNA damage response activity, which are conveniently to be observed via immunofluorescence staining. Protein ubiquitination plays an important role in ini...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/s10528-015-9707-8

    authors: Wang D,Tian Y,Wei D,Jing Y,Niu H,Xie K,Song Y

    更新日期:2016-04-01 00:00:00

  • Mitochondrial DNA-Based Analyses of Relatedness Among Turkeys, Meleagris gallopavo.

    abstract::The domesticated turkey, Meleagris gallopavo, is believed to be a single breed with several varieties whose relatedness and origins remain poorly understood. Using the mitochondrial genome sequence (GenBank accession no. EF153719) that our group first reported, we investigated the relationships among 15 of the most wi...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/s10528-015-9668-y

    authors: Guan X,Silva P,Gyenai K,Xu J,Geng T,Smith E

    更新日期:2015-04-01 00:00:00

  • Genetic variation of Chinese PRRSV strains based on ORF5 sequence.

    abstract::Thirteen isolates of porcine reproductive and respiratory syndrome virus (PRRSV) from different provinces of China were studied and compared with several PRRSV isolates from other countries. Phylogenetic analysis shows that all Chinese isolates of PRRSV in this study belong to the American genotype, except for one str...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/s10528-006-9039-9

    authors: Chen J,Liu T,Zhu CG,Jin YF,Zhang YZ

    更新日期:2006-10-01 00:00:00

  • Gene duplication in salmonid fishes: evidence for duplicated but catalytically equivalent A4 lactate dehydrogenases.

    abstract::Skeletal muscle tissues from many species of salmonid fish are known to exhibit a set of three of five isozymes for A4-type lactate dehydrogenase (L-lactate: NAD oxidoreductase, E.C. 1.1.1.27), but the genetic basis for this isozyme system has not previously been assessed. This isozyme system was purified to homogenei...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF00484099

    authors: Lim ST,Bailey GS

    更新日期:1977-08-01 00:00:00

  • Gene topography and function. I. Gene expression in germinating conidia of Neurospora crassa.

    abstract::In an attempt to find clues for the significance of the gene ordering along the eukaryotic chromosome, a system consisting of germinating conida of Neurospora crassa was studied. Thirteen enzyme activities corresponding to genes widely distributed on five chromosomes were determined in dormant and in germinating conid...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF00484413

    authors: Jobbágy AJ,Aversa NO,Denoya CD

    更新日期:1975-12-01 00:00:00

  • Genetic Diversity and Population Structure in Upland Rice (Oryza sativa L.) of Mizoram, North East India as Revealed by Morphological, Biochemical and Molecular Markers.

    abstract::Upland rice landraces from different villages of Mizoram, Northeast India were analyzed for seed morphology, amylose content, aromatic characteristic, seed storage protein profiling and genetic diversity. Results revealed variation in grain length, width, weight and shape. Protein profiling showed polypeptide bands ra...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/s10528-018-09901-1

    authors: Vanlalsanga,Singh YT

    更新日期:2019-06-01 00:00:00

  • SNP Discovery by GBS in Olive and the Construction of a High-Density Genetic Linkage Map.

    abstract::Genetic linkage maps are valuable tools for genetic, genomic, and crop breeding studies. Several genetic linkage maps were constructed for the olive (Olea europaea L.) genome, mainly using amplified fragment length polymorphisms (AFLPs) and simple sequence repeat (SSR) markers. However, AFLPs and SSR markers were not ...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/s10528-016-9721-5

    authors: İpek A,Yılmaz K,Sıkıcı P,Tangu NA,Öz AT,Bayraktar M,İpek M,Gülen H

    更新日期:2016-06-01 00:00:00

  • Arylsulfatase A activity and electrophoretic banding patterns from isolated human blood fractions.

    abstract::Arylsulfatase A (ASA) activity was studied from five blood fractions, leukocytes plus platelets (LKPL), leukocytes (LK), neutrophils (N), lymphocytes (LYM), and platelets (PL). No significant difference was found among the mean ASA specific activity values for the fractions. Electrophoretic examination revealed four d...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF00484068

    authors: Georgopoulos DE,Manowitz P

    更新日期:1982-10-01 00:00:00

  • Genetic and biochemical studies of the highly active esterases A' and B associated with organophosphate resistance in mosquitoes of the Culex pipiens complex.

    abstract::The highly active esterases A' and B that cannot be dissociated from OP resistance in Culex pipiens from France and California are shown to have equivalent Km values (2.1 x 10(-6) M/min/mosquito) but different turnover rates (Vm = 2.13 and 0.57 x 10(-6) M/min/mosquito, respectively) and pH for maximum activity. Both ...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF00504256

    authors: Pasteur N,Iseki A,Georghiou GP

    更新日期:1981-10-01 00:00:00

  • Identification of hybrids of painted and milky storks using FTA card-collected blood, molecular markers, and morphologies.

    abstract::Suspicious hybrids of painted storks and milky storks were found in a Malaysian zoo. Blood of these birds was sampled on FTA cards for DNA fingerprinting. Of 44 optimized primers, 6 produced diagnostic markers that could identify hybrids. The markers were based on simple, direct PCR-generated multilocus banding patter...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/s10528-013-9607-8

    authors: Yee EY,Zainuddin ZZ,Ismail A,Yap CK,Tan SG

    更新日期:2013-10-01 00:00:00

  • Glacial effects on sequence divergence of mitochondrial COII of Polyura eudamippus (Lepidoptera: Nymphalidae) in China.

    abstract::Sequence divergence of mitochondrial COII was analyzed in 50 specimens belonging to five subspecies of Polyura eudamippus (Lepidoptera: Nymphalidae) collected from southern China. There were nine haplotypes in the 405 bp of partial COII sequence. Distribution of the five subspecies was primarily consistent with the sp...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/s10528-006-9035-0

    authors: Long Y,Wan H,Yan F,Xu C,Lei G,Li S,Wang R

    更新日期:2006-10-01 00:00:00

  • Genetic structure and variation of Van cats.

    abstract::To determine the genetic structure and variation of Van cats and some other cats, seven enzyme loci were examined using horizontal starch gel electrophoresis. ME bands were observed for the first time in cats. For the enzyme loci CA ( 1 ), SOD, GPI, and GOT, neither the individual Van cats nor the specimens of other c...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/s10528-011-9426-8

    authors: Altunok V,Yüksek N,Berkman CC,Ağaoğlu ZT,Togan I

    更新日期:2011-08-01 00:00:00

  • Human platelet phenol sulfotransferase: familial variation in thermal stability of the TS form.

    abstract::Phenol sulfotransferase (PST) catalyzes the sulfate conjugation of catechol and phenolic drugs and xenobiotic compounds. Platelets and other tissues contain at least two forms of PST, forms that have been designated the "TL" and the "TS" forms. We measured the thermal stability of platelet TS PST in blood samples from...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF00499627

    authors: Van Loon J,Weinshilboum RM

    更新日期:1984-12-01 00:00:00

  • Genetic heterogeneity in the Indian Mus musculus.

    abstract::This study deals with the characterization of 10 populations of M. musculus from different geographical locations in India. The genetics of Indian wild mice has been completely obscure and this is the first report on allozyme variations in the natural population. We have used a set of 24 biochemical genetic markers to...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1023/a:1018781026170

    authors: Awasthi M,Bhat KV,Anand RK

    更新日期:1998-08-01 00:00:00

  • Heterogeneity in the molecular basis of three types of hereditary persistence of fetal hemoglobin and the relative synthesis of the G gamma and A gamma types of gamma chain.

    abstract::Restriction endonuclease analyses of DNA from one Black G gamma A gamma-HPFH homozygote and four Black and one Indian G gamma A gamma-HPFH heterozygotes have identified three different HPFH types which are the result of large deletions including the delta and beta genes. Two of the types are comparable to those charac...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF00499284

    authors: Kutlar A,Gardiner MB,Headlee MG,Reese AL,Cleek MP,Nagle S,Sukumaran PK,Huisman TH

    更新日期:1984-02-01 00:00:00

  • Suppression of miR-30a-3p Attenuates Hepatic Steatosis in Non-alcoholic Fatty Liver Disease.

    abstract::Non-alcoholic fatty liver disease (NAFLD) have a high prevalence in humans in the past two decades. Here, we elucidated the functions of miR-30a-3p in the development of NAFLD and identified its potential targets. HepG-2 cells and NAFLD patients' blood samples were used in our study. Bioinformatics analysis as well as...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/s10528-020-09971-0

    authors: Wang DR,Wang B,Yang M,Liu ZL,Sun J,Wang Y,Sun H,Xie LJ

    更新日期:2020-10-01 00:00:00

  • Expression and characterization of a functional single-chain variable fragment (scFv) protein recognizing MCF7 breast cancer cells in E. coli cytoplasm.

    abstract::Single-chain variable fragment (scFv) is one of the most common antibody forms. This report describes the expression of the scFv gene as a soluble protein in Origami DE3 cytoplasm. The purified scFv recognized the epidermal growth factor receptor (EGFRvIII) on the surface of MCF-7 cells. The scFv protein was purified ...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/s10528-012-9506-4

    authors: Mahgoub IO

    更新日期:2012-08-01 00:00:00

  • Thermal kinetic differences between allelic isozymes of malate dehydrogenase (Mdh-B locus) of largemouth bass, Micropterus salmoides.

    abstract::Two alleles are encoded at the malate dehydrogenase locus in largemouth bass, Micropterus salmoides. Populations in the extreme northern areas of the range of this fish are fixed or nearly fixed for the B1 allele, whereas populations in Florida are fixed for the alternative allele, B2. The MDH-B1B1 and MDH-B2B2 alleli...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF00488466

    authors: Hines SA,Philipp DP,Childers WF,Whitt GS

    更新日期:1983-12-01 00:00:00