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

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

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：:Mucopolysaccharidosis VI (MPS VI) is a rare autosomal recessive disorder caused by a deficiency of N-acetylgalactosamine-4-sulfatase (ARSB). Over 130 ARSB gene mutations have been identified thus far and most mutations are unique to individual families. We aimed to analyze the spectrum of mutations in the ARSB gene re...

journal_title：Molecular genetics and metabolism

authors： Jurecka A,Piotrowska E,Cimbalistiene L,Gusina N,Sobczyńska A,Czartoryska B,Czerska K,Õunap K,Węgrzyn G,Tylki-Szymańska A

更新日期：2012-02-01 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：:Suppression therapy utilizes compounds that suppress translation termination at in-frame premature termination codons (PTCs) to restore full-length, functional protein. This approach may provide a treatment for diseases caused by nonsense mutations such as mucopolysaccharidosis type I-Hurler (MPS I-H). MPS I-H is a ly...

journal_title：Molecular genetics and metabolism

authors： Wang D,Belakhov V,Kandasamy J,Baasov T,Li SC,Li YT,Bedwell DM,Keeling KM

更新日期：2012-01-01 00:00:00

abstract：PURPOSE:To present clinical, biochemical and molecular information on six new clinically diagnosed Krabbe disease patients and assess the sensitivity of retrospective galactocerebrosidase measurement in their newborn screening samples. METHODS:Medical records were reviewed. Galactocerebrosidase activity was measured i...

journal_title：Molecular genetics and metabolism

authors： Puckett RL,Orsini JJ,Pastores GM,Wang RY,Chang R,Saavedra-Matiz CA,Torres PA,Zeng B,Caggana M,Lorey F,Abdenur JE

更新日期：2012-01-01 00:00:00

abstract：:Pelizaeus-Merzbacher-like disease (PMLD) is a clinically and genetically heterogeneous neurological disorder of cerebral hypomyelination. It is clinically characterised by early onset (usually infantile) nystagmus, impaired motor development, ataxia, choreoathetoid movements, dysarthria and progressive limb spasticity...

journal_title：Molecular genetics and metabolism

authors： Meyer E,Kurian MA,Morgan NV,McNeill A,Pasha S,Tee L,Younis R,Norman A,van der Knaap MS,Wassmer E,Trembath RC,Brueton L,Maher ER

更新日期：2011-12-01 00:00:00

abstract：:The identification of disease causing mutation in patients with neurodegenerative disorders originating from small, non-consanguineous families is challenging. Three siblings were found to have ventriculomegaly at early gestation; postnatally, there was no acquisition of developmental milestones, and the muscles of th...

journal_title：Molecular genetics and metabolism

authors： Berger I,Ben-Neriah Z,Dor-Wolman T,Shaag A,Saada A,Zenvirt S,Raas-Rothschild A,Nadjari M,Kaestner KH,Elpeleg O

更新日期：2011-12-01 00:00:00

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

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

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

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

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

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

更新日期：2011-12-01 00:00:00

abstract：:Anophthalmia and microphthalmia (A/M) are significant eye defects because they can have profound effects on visual acuity. A/M is associated with non-ocular abnormalities in an estimated 33-95% of cases and around 25% of patients have an underlying genetic syndrome that is diagnosable. Syndrome recognition is importan...

journal_title：Molecular genetics and metabolism

authors： Slavotinek AM

更新日期：2011-12-01 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：: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

authors： Prust MJ,Gropman AL,Hauser N

更新日期：2011-11-01 00:00:00

abstract：:The pyruvate dehydrogenase complex (PDC) oxidizes pyruvate to acetyl CoA and is critically important in maintaining normal cellular energy homeostasis. Loss-of-function mutations in PDC give rise to congenital lactic acidosis and to progressive cellular energy failure. However, the subsequent biochemical consequences ...

journal_title：Molecular genetics and metabolism

authors： Glushakova LG,Judge S,Cruz A,Pourang D,Mathews CE,Stacpoole PW

更新日期：2011-11-01 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：: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 ...

journal_title：Molecular genetics and metabolism

authors： Arnold GL,Vockley J

更新日期：2011-09-01 00:00:00

abstract：BACKGROUND:A common follicle-stimulating hormone (FSH) receptor (or FSHR) polymorphism Ser680Asn (rs6166) was found to be associated with altered ovarian response in women undergoing in-vitro fertilization. To further investigate such an association, a meta-analysis was conducted. METHODS:A PubMed literature search wa...

journal_title：Molecular genetics and metabolism

authors： Yao Y,Ma CH,Tang HL,Hu YF

更新日期：2011-08-01 00:00:00

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

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

更新日期：2011-08-01 00:00:00

abstract：:Cobalamin (Cbl, B(12)) is an essential micronutrient required to fulfill the enzymatic reactions of cytosolic methylcobalamin-dependent methionine synthase and mitochondrial adenosylcobalamin-dependent methylmalonyl-CoA mutase. Mutations in the MMACHC gene (cblC complementation group) disrupt processing of the upper-a...

journal_title：Molecular genetics and metabolism

authors： Hannibal L,DiBello PM,Yu M,Miller A,Wang S,Willard B,Rosenblatt DS,Jacobsen DW

更新日期：2011-07-01 00:00:00

abstract：:In Duchenne muscular dystrophy (DMD), identification of one nonsense mutation in the DMD gene has been considered an endpoint of genetic diagnosis. Here, we identified two closely spaced nonsense mutations in the DMD gene. In a Malaysian DMD patient two nonsense mutations (p.234S>X and p.249Q>X, respectively) were ide...

journal_title：Molecular genetics and metabolism

authors： Rani AQ,Malueka RG,Sasongko TH,Awano H,Lee T,Yagi M,Zilfalil BA,Salmi AB,Takeshima Y,Zabidi-Hussin ZA,Matsuo M

更新日期：2011-07-01 00:00:00

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

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

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

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

更新日期：2011-06-01 00:00:00

abstract：:Lung dysfunction is an important part of the pathology of the neurodegenerative disorder, Niemann-Pick C1 (NPC1). We have studied the pulmonary disease in the Npc1(NIH/NIH) mouse model. On histology, we find large numbers of alveolar foamy macrophages but no alveolar proteinosis. Lung weight as percent of body weight ...

journal_title：Molecular genetics and metabolism

authors： Muralidhar A,Borbon IA,Esharif DM,Ke W,Manacheril R,Daines M,Erickson RP

更新日期：2011-06-01 00:00:00

abstract：:Sanfilippo disease (MPS IIIA) is an autosomal recessive lysosomal storage disorder resulting from sulfamidase deficiency, which is characterized by severe neurological impairment. Various tissues of MPS IIIA mice accumulate undegraded glycosaminoglycans and mimic the human neurodegenerative disorder, and are an excell...

journal_title：Molecular genetics and metabolism

authors： Arfi A,Richard M,Gandolphe C,Bonnefont-Rousselot D,Thérond P,Scherman D

更新日期：2011-05-01 00:00:00

abstract：:Prior to the advent of expanded newborn screening, sudden and unexplained death was often the first and only symptom of medium-chain acyl-CoA dehydrogenase deficiency (MCADD). With the use of tandem mass spectrometry, infants can now be identified and treated before a life threatening metabolic decompensation occurs. ...

journal_title：Molecular genetics and metabolism

authors： Leydiker KB,Neidich JA,Lorey F,Barr EM,Puckett RL,Lobo RM,Abdenur JE

更新日期：2011-05-01 00:00:00

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

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

更新日期：2011-05-01 00:00:00

abstract：OBJECTIVE:To assess whether or not pyrimethamine (PMT) can be used to enhance β-hexosaminidase A activity (HexA) in subjects with Late Onset Tay Sachs (LOTS), we studied the effect of incremental doses of PMT in vivo in 9 LOTS patients carrying the αG269S/c.1278insTACT mutations. METHODS:PMT treatment was initiated at...

journal_title：Molecular genetics and metabolism

authors： Osher E,Fattal-Valevski A,Sagie L,Urshanski N,Amir-Levi Y,Katzburg S,Peleg L,Lerman-Sagie T,Zimran A,Elstein D,Navon R,Stern N,Valevski A

更新日期：2011-03-01 00:00:00

abstract：:Left ventricular noncompaction (LVNC) is a cardiomyopathy morphologically characterized by 2-layered myocardium, numerous prominent trabeculations, and deep intertrabecular recesses communicating with the left ventricular cavity. The purpose of this study was to investigate patients with LVNC for possible disease caus...

journal_title：Molecular genetics and metabolism

authors： Chang B,Nishizawa T,Furutani M,Fujiki A,Tani M,Kawaguchi M,Ibuki K,Hirono K,Taneichi H,Uese K,Onuma Y,Bowles NE,Ichida F,Inoue H,Matsuoka R,Miyawaki T,Noncompaction study collaborators.

更新日期：2011-02-01 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：BACKGROUND:In children with phenylketonuria (PKU), it is possible that high carbohydrate protein substitutes may adversely affect blood phenylalanine control. We evaluated if a low carbohydrate, 'ready-to-drink' protein substitute would impact on short term blood phenylalanine control, weight and appetite in children w...

journal_title：Molecular genetics and metabolism

authors： Gokmen-Ozel H,Ferguson C,Evans S,Daly A,MacDonald A

更新日期：2011-01-01 00:00:00

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

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

abstract：:A common variant (rs4712652) adjacent to the prolactin gene was recently associated with obesity using a genome-wide association study. The aim of this study was to replicate the association between rs4712652 and obesity and further examine if rs4712652 is associated with fat percentage and adiponectin levels in a pop...

journal_title：Molecular genetics and metabolism

authors： Nilsson L,Olsson AH,Isomaa B,Groop L,Billig H,Ling C

更新日期：2011-01-01 00:00:00

abstract：:The same basic principles are used to deliver dietary treatment in PKU that was developed sixty years ago. Dietary treatment is undoubtedly very successful, but it has gradually evolved and been guided commonly by individual experience and expert opinion only. There is little international consensus about dietary prac...

journal_title：Molecular genetics and metabolism

authors： MacDonald A,Rocha JC,van Rijn M,Feillet F

更新日期：2011-01-01 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：:Mutant GBA was found recently to be the most prevalent risk factor for familial parkinsonism. The two diseases do not share common symptoms and there is no direct pathway to explain the mechanism by which GBA mutations can confer the risk. Increased burden on the degradative pathway caused by defective glucocerebrosid...

journal_title：Molecular genetics and metabolism

authors： Goldin E

更新日期：2010-12-01 00:00:00

abstract：:Variants in the engulfment and cell motility 1 gene, ELMO1, have previously been associated with kidney disease attributed to type 2 diabetes. The Pima Indians of Arizona have high rates of diabetic nephropathy, which is strongly dependent on genetic determinants; thus, we sought to investigate the role of ELMO1 polym...

journal_title：Molecular genetics and metabolism

authors： Hanson RL,Millis MP,Young NJ,Kobes S,Nelson RG,Knowler WC,DiStefano JK

更新日期：2010-12-01 00:00:00

abstract：:Enzyme replacement therapy (ERT) with intravenous recombinant human alpha-l-iduronidase (IV rhIDU) is a treatment for patients with mucopolysaccharidosis I (MPS I). Spinal cord compression develops in MPS I patients due in part to dural and leptomeningeal thickening from accumulated glycosaminoglycans (GAG). We tested...

journal_title：Molecular genetics and metabolism

authors： Dickson PI,Hanson S,McEntee MF,Vite CH,Vogler CA,Mlikotic A,Chen AH,Ponder KP,Haskins ME,Tippin BL,Le SQ,Passage MB,Guerra C,Dierenfeld A,Jens J,Snella E,Kan SH,Ellinwood NM

更新日期：2010-10-01 00:00:00

abstract：:Many adult patients with phenylketonuria (PKU) are no longer receiving treatment for their disorder despite mounting evidence that elevated blood phenylalanine levels are associated with impairments of brain function manifested by neurocognitive deficits and psychiatric symptoms. An outreach program was established in...

journal_title：Molecular genetics and metabolism

authors： Burton BK,Leviton L

更新日期：2010-10-01 00:00:00

abstract：:Congenital generalized lipodystrophy (CGL), characterized by generalized absence of adipose tissue, has heterogeneous causes. Recently, a novel type of CGL complicated by muscular dystrophy was categorized as CGL4 caused by PTRF-CAVIN deficiency. However, it is unknown whether CGL4 exhibits clinical abnormalities duri...

journal_title：Molecular genetics and metabolism

authors： Dwianingsih EK,Takeshima Y,Itoh K,Yamauchi Y,Awano H,Malueka RG,Nishida A,Ota M,Yagi M,Matsuo M

更新日期：2010-10-01 00:00:00