当前位置： SCI文献检索 > MOLECULAR GENETICS AND METABOLISM期刊下所有文献 > Thoroughly modern medicine.

Thoroughly modern medicine.

Abstract：

:Personalized medicine is receiving increasing attention in the medical literature and lay press as one way to optimize therapy and reduce complications of treatment for almost any disorder. However, understanding the systemic complexities necessary to implement the ambitious goals of personalized medicine is unlikely to arise from the study of common disorders. Rather, dissecting out the individual components to therapeutic response is far more feasible with defined disorders of known cause. Inborn errors of metabolism offer an attractive opportunity to better define the hyperbole surrounding development and institution of personalized medicine.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Arnold GL,Vockley J

doi

10.1016/j.ymgme.2011.07.011

subject

Has Abstract

pub_date

2011-09-01 00:00:00

pages

1-2

issue

1-2

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(11)00237-X

journal_volume

104

pub_type

相关文献

MOLECULAR GENETICS AND METABOLISM文献大全
  • The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons.

    abstract：:The bicistronic MOCS1 gene encodes two enzymatic activities that are necessary for the biosynthesis of the molybdenum cofactor (MoCo). Mutations in either of the two consecutive open reading frames are responsible for the majority of MoCo deficiency cases and result in a complementation group A phenotype. Two cDNA seq...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/s1096-7192(02)00100-2

    authors： Gross-Hardt S,Reiss J

    更新日期：2002-08-01 00:00:00

  • Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth.

    abstract：BACKGROUND:Pyruvoyl Tetrahydropterin Synthase (PTPS) Deficiency is the most common form of BH4 deficiency resulting in hyperphenylalaninemia. It can have variable clinical severity and there is limited information on the clinical presentation, natural history and effectiveness of newborn screening for this condition. ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2020.11.004

    authors： Manzoni F,Salvatici E,Burlina A,Andrews A,Pasquali M,Longo N

    更新日期：2020-12-01 00:00:00

  • Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots.

    abstract：:Derivatives of 4-methylumbelliferone (4MU) are favorite substrates for the measurement of lysosomal enzyme activities in a wide variety of cell and tissue specimens. Hydrolysis of these artificial substrates at acidic pH leads to the formation of 4-methylumbelliferone, which is highly fluorescent at a pH above 10. Whe...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2010.09.008

    authors： Oemardien LF,Boer AM,Ruijter GJ,van der Ploeg AT,de Klerk JB,Reuser AJ,Verheijen FW

    更新日期：2011-01-01 00:00:00

  • Genetic factors related to racial variation in plasma levels of insulin-like growth factor-1: implications for premenopausal breast cancer risk.

    abstract：:The oral contraceptive pill is associated with a modest increase in the risk of early-onset breast cancer in the general population, but it is possible that the risk is higher in certain subgroups of women. The relative risk of breast cancer associated with oral contraceptive use has been reported to be higher for Afr...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.2000.3130

    authors： Jernström H,Chu W,Vesprini D,Tao Y,Majeed N,Deal C,Pollak M,Narod SA

    更新日期：2001-02-01 00:00:00

  • Genetic variation of the ATP-binding cassette transporter A1 and susceptibility to coronary heart disease.

    abstract：:ATP-binding cassette transporter A1 (ABCA1) is a member of a superfamily of membrane proteins that has attracted considerable attention as a candidate gene for coronary heart disease (CHD) based on its enzyme function as a key factor in regulating plasma HDL-C and apo A-I metabolism. It has been suggested that polymor...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,meta分析

    doi：10.1016/j.ymgme.2011.01.005

    authors： Jiang Z,Zhou R,Xu C,Feng G,Zhou Y

    更新日期：2011-05-01 00:00:00

  • Progress in neuropathology of the neuronal ceroid lipofuscinoses.

    abstract：:Since the last, 6th, International Congress on Neuronal Ceroid-Lipofuscinoses, neuropathological advances in neuronal ceroid lipofuscinoses (NCL) have been made in several areas: (1) In adult NCL (ANCL) lipopigments have now been repeatedly confirmed to contain subunit c of mitochondrial ATP synthase and even sphingol...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1006/mgme.1999.2808

    authors： Goebel HH,Schochet SS,Jaynes M,Brück W,Kohlschütter A,Hentati F

    更新日期：1999-04-01 00:00:00

  • Carotid intima-media thickness is increased in patients with mucopolysaccharidoses.

    abstract：BACKGROUND:The feasibility of carotid artery intima-media thickness (C-IMT), an established cardiovascular disease marker, as a cardiac risk marker in mucopolysaccharidosis (MPS) patients was explored. OBJECTIVES:To determine if C-IMT is abnormal in MPS versus unaffected controls, and if C-IMT correlates with coronary...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2011.09.004

    authors： Wang RY,Covault KK,Halcrow EM,Gardner AJ,Cao X,Newcomb RL,Dauben RD,Chang AC

    更新日期：2011-12-01 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

  • Oculomotor abnormalities in children with Niemann-Pick type C.

    abstract：:Niemann-Pick type C (NP-C) is a rare recessive disorder associated with progressive supranuclear gaze palsy. Degeneration occurs initially for vertical saccades and later for horizontal saccades. There are studies of oculomotor degeneration in adult NP-C patients [1, 2] but no comparable studies in children. We used h...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2017.11.004

    authors： Blundell J,Frisson S,Chakrapani A,Gissen P,Hendriksz C,Vijay S,Olson A

    更新日期：2018-02-01 00:00:00

  • Molecular cloning of junctin from human and developing rabbit heart.

    abstract：:Canine junctin is a 26-kDa transmembrane protein found in the sarcoplasmic reticulum (SR) membrane in cardiac and skeletal muscle. Junctin has recently been shown to bind directly to calsequestrin, the ryanodine receptor, and triadin. Junctin is thought to play a role in facilitating (and perhaps regulating) Ca(2+) re...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.2000.2966

    authors： Wetzel GT,Ding S,Chen F

    更新日期：2000-03-01 00:00:00

  • The -374A allele of the receptor for advanced glycation end products gene is associated with a decreased risk of ischemic heart disease in African-Brazilians with type 2 diabetes.

    abstract：:Three functional polymorphisms described in the promoter of receptor for advanced glycation end products (RAGE) gene were shown to have a marked effect on transcriptional activity. The few studies which analyzed the relationship between these three polymorphisms and the diabetic complications have shown conflicting re...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2005.02.010

    authors： dos Santos KG,Canani LH,Gross JL,Tschiedel B,Pires Souto KE,Roisenberg I

    更新日期：2005-06-01 00:00:00

  • Maturational changes in ovine pulmonary metabolism of platelet-activating factor: implications for postnatal adaptation.

    abstract：:We recently reported that PAF acetylhydrolase (PAF-Ah) mRNA level and PAF-Ah activity in lamb lungs are up-regulated in the immediate newborn period, thereby facilitating the fall in postnatal PAF levels as well as a fall in pulmonary vascular resistance (B. O. Ibe, F. C. Sardar, and J. U. Raj, Mol Genet Metab 69:46-5...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.2001.3253

    authors： Ibe BO,Pham HH,Kääpä P,Raj JU

    更新日期：2001-11-01 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

  • GLUT2 (SLC2A2) is not the principal glucose transporter in human pancreatic beta cells: implications for understanding genetic association signals at this locus.

    abstract：:SLC2A2 encoding glucose transporter -2 (GLUT2) acts as the primary glucose transporter and sensor in rodent pancreatic islets and is widely assumed to play a similar role in humans. In healthy adults SLC2A2 variants are associated with elevated fasting plasma glucose (fpg) concentrations but physiological characterisa...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2011.08.026

    authors： McCulloch LJ,van de Bunt M,Braun M,Frayn KN,Clark A,Gloyn AL

    更新日期：2011-12-01 00:00:00

  • Urinary glycosaminoglycans as a potential biomarker for evaluating treatment efficacy in subjects with mucopolysaccharidoses.

    abstract：:Accumulations of glycosaminoglycans (GAGs) that result from deficiencies in lysosomal hydrolases are characteristic of mucopolysaccharidoses (MPS). Enzyme replacement therapies (ERTs) are now available for several MPS diseases (MPS I, MPS II, MPS IVA, MPS VI, and MPS VII), but assessment of the efficacy of treatment c...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1016/j.ymgme.2020.02.006

    authors： Kakkis E,Marsden D

    更新日期：2020-05-01 00:00:00

  • From bench to bedside: a diagnostics framework for pharmacogenetics research.

    abstract：:Although many genetic variants have been associated with differential drug responses, a very limited number of pharmacogenetic tests have entered common clinical practice. Pharmacogenetic tests that are successful address unmet medical needs, are clinically relevant, and have sufficient sensitivity, and specificity. I...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1016/s1096-7192(02)00143-9

    authors： Katz DA

    更新日期：2002-09-01 00:00:00

  • Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria.

    abstract：:Acute intermittent porphyria (AIP) is an autosomal dominant disorder of heme biosynthesis caused by molecular defects in the hydroxymethylbilane synthase (HMBS) gene. In this study, we report two novel missense sequence variations in the HMBS gene, T59I (C176T) and V215M (G643A), in two patients with clinical symptoms...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2008.03.001

    authors： Schneider-Yin X,Ulbrichova D,Mamet R,Martasek P,Marohnic CC,Goren A,Minder EI,Schoenfeld N

    更新日期：2008-07-01 00:00:00

  • Late diagnosis of maternal PKU in a family segregating an arylsulfatase [corrected] E mutation causing symmetrical chondrodysplasia punctata.

    abstract：:Mutations in the arylsulfatase E gene, located on the X chromosome, have been shown to cause chondrodysplasia punctata (CDP). A substitution of arginine with serine at amino acid 12 (R12S) was identified in a patient with typical features of mild symmetrical CDP including mild mental retardation. The proband was insti...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.1999.2935

    authors： Dahl HH,Osborn AH,Hutchison WM,Thorburn DR,Sheffield LJ

    更新日期：1999-12-01 00:00:00

  • Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.

    abstract：:Medium-chain acyl-coA dehydrogenase (MCAD) deficiency is a commonly detected fatty acid oxidation disorder and its diagnosis relies on both biochemical and molecular analyses. Over a 5-year period, sequencing all 12 exons of the MCAD gene (ACADM) in our laboratory revealed a total of 54 variants in 549 subjects analyz...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2010.04.001

    authors： Smith EH,Thomas C,McHugh D,Gavrilov D,Raymond K,Rinaldo P,Tortorelli S,Matern D,Highsmith WE,Oglesbee D

    更新日期：2010-07-01 00:00:00

  • New frontiers in neuroimaging applications to inborn errors of metabolism.

    abstract：:Most inborn errors of metabolism (IEMs) are associated with potential for injury to the developing central nervous system resulting in chronic encephalopathy, though the etiopathophysiology of neurological injury have not been fully established in many disorders. Shared mechanisms can be envisioned such as oxidative i...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1016/j.ymgme.2011.06.020

    authors： Prust MJ,Gropman AL,Hauser N

    更新日期：2011-11-01 00:00:00

  • Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome.

    abstract：:The causes of Reye-like syndrome are not completely understood. Dihydrolipoamide dehydrogenase (DLD or E3) deficiency is a rare metabolic disorder causing neurological or liver impairment. Specific changes in the levels of urinary and plasma metabolites are the hallmark of the classical form of the disease. Here, we r...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2013.01.017

    authors： Brassier A,Ottolenghi C,Boutron A,Bertrand AM,Valmary-Degano S,Cervoni JP,Chrétien D,Arnoux JB,Hubert L,Rabier D,Lacaille F,de Keyzer Y,Di Martino V,de Lonlay P

    更新日期：2013-05-01 00:00:00

  • Newborn screening and diagnosis of mucopolysaccharidoses.

    abstract：:Mucopolysaccharidoses (MPS) are caused by deficiency of lysosomal enzyme activities needed to degrade glycosaminoglycans (GAGs), which are long unbranched polysaccharides consisting of repeating disaccharides. GAGs include: chondroitin sulfate (CS), dermatan sulfate (DS), heparan sulfate (HS), keratan sulfate (KS), an...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1016/j.ymgme.2013.06.007

    authors： Tomatsu S,Fujii T,Fukushi M,Oguma T,Shimada T,Maeda M,Kida K,Shibata Y,Futatsumori H,Montaño AM,Mason RW,Yamaguchi S,Suzuki Y,Orii T

    更新日期：2013-09-01 00:00:00

  • Association between a common KCNJ11 polymorphism (rs5219) and new-onset posttransplant diabetes in patients treated with Tacrolimus.

    abstract：:KCNJ11 polymorphisms have been linked to the risk of developing type 2 diabetes. Our aim was to define the contribution of KCNJ11 to new-onset diabetes after transplantation (NODAT) among patients treated with Tacrolimus (Tac). A total of 115 NODAT and 205 non-NODAT were genotyped for rs5219 (p.E23K). AA+AG genotypes ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2011.12.020

    authors： Tavira B,Coto E,Torres A,Díaz-Corte C,Díaz-Molina B,Ortega F,Arias M,Díaz JM,Selgas R,López-Larrea C,Ruiz-Ortega M,Ortiz A,González E,Campistol JM,Alvarez V,Pharmacogenetics of tacrolimus REDINREN study group.

    更新日期：2012-03-01 00:00:00

  • The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle.

    abstract：:The mitochondrial 13513G>A (D393N) mutation in the ND5 subunit of the respiratory chain complex I was initially described in association with MELAS syndrome. Recent observations have linked this mutation to Leigh disease. We screened for the 13513G>A mutation in a cohort of 265 patients with Leigh and Leigh-like disea...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2008.04.004

    authors： Brautbar A,Wang J,Abdenur JE,Chang RC,Thomas JA,Grebe TA,Lim C,Weng SW,Graham BH,Wong LJ

    更新日期：2008-08-01 00:00:00

  • Toward understanding the neuronal pathogenesis of aspartylglucosaminuria: expression of aspartylglucosaminidase in brain during development.

    abstract：:The deficiency of a lysosomal enzyme, aspartylglucosaminidase, results in a lysosomal storage disorder, aspartylglucosaminuria, manifesting as progressive mental retardation. To understand tissue pathogenesis and disease progression we analyzed the developmental expression of the enzyme, especially in brain, which is ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.1999.2872

    authors： Uusitalo A,Tenhunen K,Heinonen O,Hiltunen JO,Saarma M,Haltia M,Jalanko A,Peltonen L

    更新日期：1999-08-01 00:00:00

  • Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization-tandem mass spectrometry.

    abstract：:Metachromatic leukodystrophy is an inherited disorder characterized by a deficiency of the lysosomal enzyme arylsulfatase A and the subsequent accumulation of sulfatide in neural and visceral tissues. Clinical diagnosis is usually confirmed by in vitro analysis of arylsulfatase A activity, but may be complicated in ca...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.2001.3165

    authors： Whitfield PD,Sharp PC,Johnson DW,Nelson P,Meikle PJ

    更新日期：2001-05-01 00:00:00

  • Expression of Mmachc and Mmadhc during mouse organogenesis.

    abstract：:To examine whether Mmachc and Mmadhc, two genes involved in vitamin B(12) (cobalamin) metabolism, show tissue-specific expression during mouse embryogenesis, we determined their sites of expression at 11.5days post conception by in situ hybridization. There was ubiquitous expression of Mmadhc, but tissue and cell type...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2011.04.004

    authors： Pupavac M,Garcia MA,Rosenblatt DS,Jerome-Majewska LA

    更新日期：2011-08-01 00:00:00

  • Combined Hurler and Sanfilippo syndrome in a sibling pair.

    abstract：:The mucopolysaccharidoses (MPS) are lysosomal storage disorders caused by defects in the enzymes involved in the degradation of glycosaminoglycans. Hurler syndrome (MPS I) and Sanfilippo syndrome (MPS III) are among the more common diseases in the group, each occurring with an incidence of approximately 1 in 100,000. ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2011.02.011

    authors： Sun A,Hopwood JJ,Thompson J,Cederbaum SD

    更新日期：2011-06-01 00:00:00

  • Transfection screening for defects in the PCCA and PCCB genes encoding propionyl-CoA carboxylase subunits.

    abstract：:Propionic acidemia can result from mutations in the PCCA or PCCB genes encoding the alpha and beta subunits, respectively, of propionyl-CoA carboxylase. We have developed a method based on complementation of the enzyme defect using a lipid-mediated transient transfection of the normal human PCCA or PCCB cDNA into prim...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.2001.3296

    authors： Rodriguez-Pombo P,Pérez-Cerdá C,Desviat LR,Pérez B,Ugarte M,Rodríguez-Pombo P

    更新日期：2002-03-01 00:00:00

  • The higher susceptibility of congenital analbuminemic rats to Ca2+-induced mitochondrial permeability transition is associated with the increased expression of cyclophilin D and nitrosothiol depletion.

    abstract：:Congenital analbuminemia is a rare autosomal recessive disorder characterized by a trace level of albumin in blood plasma and mild clinical symptoms. Analbuminemic patients generally present associated abnormalities, among which dyslipidemia is a hallmark. In this study, we show that mitochondria isolated from differe...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2011.08.031

    authors： Figueira TR,Castilho RF,Saito A,Oliveira HC,Vercesi AE

    更新日期：2011-12-01 00:00:00