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

abstract：:Variegate porphyria is an autosomal dominant disorder of heme metabolism which results from decreased activity of the enzyme protoporphyrinogen oxidase. Clinically, the disease manifests postpubertally and is characterized by photocutaneous sensitivity and/or acute neurovisceral crises. However, in homozygous variegat...

journal_title：Molecular genetics and metabolism

authors： Corrigall AV,Hift RJ,Davids LM,Hancock V,Meissner D,Kirsch RE,Meissner PN

更新日期：2000-04-01 00:00:00

abstract：:Pulmonary alveolar type II cells have been shown to be a possible target for the secosteroid hormone, 1alpha,25-dihydroxyvitamin D3 [1alpha,25(OH)2D3], during perinatal transition. At present, there is great interest to isolate and identify the metabolites of 1alpha,25(OH)2D3 produced in its target tissues and to dete...

journal_title：Molecular genetics and metabolism

authors： Rehan VK,Torday JS,Peleg S,Gennaro L,Vouros P,Padbury J,Rao DS,Reddy GS

更新日期：2002-05-01 00:00:00

abstract：:3-MCC deficiency is among the most common inborn errors of metabolism identified on expanded newborn screening (1:36,000 births). However, evidence-based guidelines for diagnosis and management of this disorder are lacking. Using the traditional Delphi method, a panel of 15 experts in inborn errors of metabolism was c...

journal_title：Molecular genetics and metabolism

authors： Arnold GL,Koeberl DD,Matern D,Barshop B,Braverman N,Burton B,Cederbaum S,Fiegenbaum A,Garganta C,Gibson J,Goodman SI,Harding C,Kahler S,Kronn D,Longo N

更新日期：2008-04-01 00:00:00

abstract：:Solubilized A1 adenosine receptor (A1AR) was used to investigate the effect of several cations on agonist-binding characteristics and GTP hydrolysis. It was shown by Western blot with G beta-M14 that this preparation contains both G proteins and receptor. The role of the receptor molecule is to facilitate the activati...

journal_title：Molecular genetics and metabolism

authors： Minelli A,Allegrucci C,Rosati R,Mezzasoma I

更新日期：1998-03-01 00:00:00

abstract：:Bloom syndrome is more common in individuals of Ashkenazi Jewish descent than in any other population, and one particular mutation in the Bloom syndrome gene, blmAsh, is homozygous in nearly all Ashkenazi Jewish persons with Bloom syndrome. We have determined the frequency of blmAsh in 1491 Ashkenazi Jewish persons wi...

journal_title：Molecular genetics and metabolism

authors： Li L,Eng C,Desnick RJ,German J,Ellis NA

更新日期：1998-08-01 00:00:00

abstract：:Methylcrotonylglycinuria (MCG) is an inborn error of leucine catabolism and has a recessive pattern of inheritance that results from the deficiency of 3-methylcrotonyl-CoA carboxylase (MCC). The clinical phenotypes are highly variable ranging from neonatal onset with severe neurological involvement to asymptomatic adu...

journal_title：Molecular genetics and metabolism

authors： Nguyen KV,Naviaux RK,Patra S,Barshop BA,Nyhan WL

更新日期：2011-02-01 00:00:00

abstract：:Methionine synthase and methylmalonyl-CoA mutase (mutase) are the only two known vitamin B(12) (B(12)) dependent enzymes in humans. A lower level of B(12) has been shown to be an independent maternal risk factor for neural tube defects (NTDs) prompting an investigation of common genetic variants within B(12) dependent...

journal_title：Molecular genetics and metabolism

authors： Parle-McDermott A,McManus EJ,Mills JL,O'Leary VB,Pangilinan F,Cox C,Weiler A,Molloy AM,Conley M,Watson D,Scott JM,Brody LC,Kirke PN,Birth Defects Research Group.

更新日期：2003-12-01 00:00:00

abstract：:The thyroid-stimulating hormone (TSH, or thyrotropin) receptor (TSHR) mediates the activating action of TSH to the thyroid gland, resulting in the growth and proliferation of thyrocytes and thyroid hormone production. In Graves' disease, thyroid-stimulating autoantibodies can mimic TSH action and stimulate thyroid cel...

journal_title：Molecular genetics and metabolism

authors： Chistiakov DA

更新日期：2003-12-01 00:00:00

abstract：:Propionyl-CoA carboxylase (PCC, EC 6.4.1.3) is a mitochondrial, biotin-dependent enzyme that functions in the catabolism of branched-chain amino acids, fatty acids with odd-numbered chain lengths, and other metabolites. It catalyzes the ATP-dependent carboxylation of propionyl-CoA to d-methylmalonyl-CoA. PCC is compos...

journal_title：Molecular genetics and metabolism

authors： Campeau E,Desviat LR,Leclerc D,Wu X,Pérez B,Ugarte M,Gravel RA

更新日期：2001-09-01 00:00:00

abstract：:Niemann-Pick type C1 (NPC1) is a rare neurodegenerative disease. In NPC1 mouse cerebella, the antibacterial enzyme, lysozyme (Lyz2), is significantly increased in multiple cell types. Due to its possible role in toxic fibril deposition, we confirmed Lyz2 overexpression in culture in different control and NPC1 cell typ...

journal_title：Molecular genetics and metabolism

authors： Cougnoux A,Yerger JC,Fellmeth M,Serra-Vinardell J,Wassif CA,Cawley NX,Porter FD

更新日期：2020-11-01 00:00:00

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

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

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

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

abstract：:Citrullinemia type I is a urea cycle disorder caused by autosomal recessive mutations in argininosuccinate synthetase 1 (ASS1). In the classical form of this disease, symptoms manifest during the neonatal period as progressive lethargy, poor feeding, and central nervous system depression secondary to hyperammonemia. I...

journal_title：Molecular genetics and metabolism

authors： Miller MJ,Soler-Alfonso CR,Grund JE,Fang P,Sun Q,Elsea SH,Sutton VR

更新日期：2014-07-01 00:00:00

abstract：:Pyridoxine dependent epilepsy is an autosomal recessive disorder characterized by early onset seizures responsive to pyridoxine and caused by a defect in the α-aminoadipic semialdehyde dehydrogenase (antiquitin) gene (ALDH7A1). In order to characterize the effects of a series of twelve disease-associated ALDH7A1 misse...

journal_title：Molecular genetics and metabolism

authors： Coulter-Mackie MB,Li A,Lian Q,Struys E,Stockler S,Waters PJ

更新日期：2012-08-01 00:00:00

abstract：:A girl, born to unrelated Spanish parents, presented at 6 months of age with photophobia, keratitis, palmar hyperkeratosis and high plasma tyrosine levels, indicative of tyrosinaemia type II. Analysis of the tyrosine aminotransferase (TAT) gene revealed a paternally inherited frameshift mutation c.1213delCinsAG at cod...

journal_title：Molecular genetics and metabolism

authors： Legarda M,Wlodarczyk K,Lage S,Andrade F,Kim GJ,Bausch E,Scherer G,Aldamiz-Echevarria LJ

更新日期：2011-11-01 00:00:00

abstract：:Reported is a female patient with methionine adenosyltransferase I/III (MAT I/III) deficiency, who was found to have pronounced hypermethioninemia on newborn mass spectroscopy screening, and had two compound heterozygous missense mutations in the gene encoding human MAT1A protein. Hypermethioninemia persisted and her ...

journal_title：Molecular genetics and metabolism

authors： Furujo M,Kinoshita M,Nagao M,Kubo T

更新日期：2012-03-01 00:00:00

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

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

更新日期：1999-04-01 00:00:00

abstract：:Isovaleric acidemia (IVA), a rare recessive autosomal disorder, is caused by isovaleryl-CoA dehydrogenase (IVD) deficiency. IVA may present with symptoms during the acute stage of severe metabolic acidosis, ketosis, vomiting, and altered mental status. With the help of newborn screening (NBS) by tandem mass spectromet...

journal_title：Molecular genetics and metabolism

authors： Lin WD,Wang CH,Lee CC,Lai CC,Tsai Y,Tsai FJ

更新日期：2007-02-01 00:00:00

abstract：:The association of fetal hydrops with Congenital Disorders of Glycosylation (CDG) has been reported previously. Pericardial fluid accumulation and ascites were also observed in a few young patients with CDG type Ia. Here we describe the clinical and biochemical features in three children developing life-threatening ex...

journal_title：Molecular genetics and metabolism

authors： Truin G,Guillard M,Lefeber DJ,Sykut-Cegielska J,Adamowicz M,Hoppenreijs E,Sengers RC,Wevers RA,Morava E

更新日期：2008-08-01 00:00:00

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

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

abstract：:Most newborn screening (NBS) laboratories use second-tier molecular tests for cystic fibrosis (CF) using dried blood spots (DBS). The Centers for Disease Control and Prevention's NBS Quality Assurance Program offers proficiency testing (PT) in DBS for CF transmembrane conductance regulator (CFTR) gene mutation detecti...

journal_title：Molecular genetics and metabolism

authors： Cordovado SK,Hendrix M,Greene CN,Mochal S,Earley MC,Farrell PM,Kharrazi M,Hannon WH,Mueller PW

更新日期：2012-02-01 00:00:00

abstract：:Since the 1950s, scientists have attempted to characterize the relationship between diabetes mellitus (DM) and the hypothalamic-pituitary-adrenal (HPA) axis. Similar complications are seen in patients with diabetes and Cushing's syndrome, leading some to suggest that an underlying abnormality in the HPA axis may be re...

journal_title：Molecular genetics and metabolism

authors： Powers JW,Mazilu JK,Lin S,McCabe ER

更新日期：2010-12-01 00:00:00

abstract：:Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a fatal disorder characterized by progressive gastrointestinal dysmotility, peripheral neuropathy, leukoencephalopathy, skeletal myopathy, ophthalmoparesis, and ptosis. MNGIE stems from deficient thymidine phosphorylase activity (TP) leading to toxic ele...

journal_title：Molecular genetics and metabolism

authors： Kripps K,Nakayuenyongsuk W,Shayota BJ,Berquist W,Gomez-Ospina N,Esquivel CO,Concepcion W,Sampson JB,Cristin DJ,Jackson WE,Gilliland S,Pomfret EA,Kueht ML,Pettit RW,Sherif YA,Emrick LT,Elsea SH,Himes R,Hirano M,Van H

更新日期：2020-05-01 00:00:00

abstract：:Novel variants associated with chronic pancreatitis are being increasingly reported. However, most studies have so far only analyzed point mutations and small insertions or deletions. Here we report the characterization of two distinct deletions of the CTRC locus. Variants in four chronic pancreatitis genes, PRSS1, SP...

journal_title：Molecular genetics and metabolism

authors： Masson E,Hammel P,Garceau C,Bénech C,Quéméner-Redon S,Chen JM,Férec C

更新日期：2013-07-01 00:00:00

abstract：:Oxidative metabolism of glucose is regulated by pyruvate dehydrogenase (PDH) that can be inhibited by isoforms of PDH kinase (PDK). Recently, increased PDK activity has been implicated in the pathogenesis of insulin resistance and non-insulin-dependent diabetes mellitus (NIDDM) in obese subjects. Using quantitative RT...

journal_title：Molecular genetics and metabolism

authors： Majer M,Popov KM,Harris RA,Bogardus C,Prochazka M

更新日期：1998-10-01 00:00:00

abstract：:Oxidative stress plays an important role in the pathophysiology of neurodegenerative diseases, including X-linked adrenoleukodystrophy (X-ALD). In the present work, we evaluated lipid (malondialdehyde [MDA] content) and protein (sulfhydryl and carbonyl contents) oxidative damage parameters in plasma from X-ALD patient...

journal_title：Molecular genetics and metabolism

authors： Rockenbach FJ,Deon M,Marchese DP,Manfredini V,Mescka C,Ribas GS,Habekost CT,Castro CG Jr,Jardim LB,Vargas CR

更新日期：2012-06-01 00:00:00

abstract：:D-2-hydroxyglutaric aciduria (D-2-HGA) is a very rare autosomal recessive metabolic disorder that has recently been associated with mutations in the D-2-hydroxyglutarate dehydrogenase gene. The biochemical phenotype of D-2-HGA is defined by the accumulation of abnormal amounts of D-2-hydroxyglutarate in cerebrospinal ...

journal_title：Molecular genetics and metabolism

authors： Misra VK,Struys EA,O'brien W,Salomons GS,Glover T,Jakobs C,Innis JW

更新日期：2005-09-01 00:00:00

abstract：BACKGROUND:The number of newborns and the number of disorders detected by large-scale screening programs has increased dramatically in the last decade. Newborn screening is a multi-step process requiring confirmatory testing to establish and refine a diagnosis. Whereas screening cutoffs are established to detect all ca...

journal_title：Molecular genetics and metabolism

authors： Oladipo OO,Weindel AL,Saunders AN,Dietzen DJ

更新日期：2011-12-01 00:00:00

abstract：:The aim of this study was to evaluate the activity of daily living (ADL) and surgical interventions in patients with mucopolysaccharidosis IVA (MPS IVA). The factor(s) that affect ADL are age, clinical phenotypes, surgical interventions, therapeutic effect, and body mass index. The ADL questionnaire comprises three do...

journal_title：Molecular genetics and metabolism

authors： Yasuda E,Suzuki Y,Shimada T,Sawamoto K,Mackenzie WG,Theroux MC,Pizarro C,Xie L,Miller F,Rahman T,Kecskemethy HH,Nagao K,Morlet T,Shaffer TH,Chinen Y,Yabe H,Tanaka A,Shintaku H,Orii KE,Orii KO,Mason RW,Montaño AM

更新日期：2016-06-01 00:00:00

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

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

更新日期：2001-05-01 00:00:00