abstract：:Holocarboxylase synthetase (HCS) catalyses the biotinylation of the four biotin-dependent carboxylases found in humans. A deficiency in HCS results in biotin-responsive multiple carboxylase deficiency. We have evaluated the biotin responsiveness associated with six missense mutations previously identified in affected ...

journal_title：Molecular genetics and metabolism

authors： Dupuis L,Campeau E,Leclerc D,Gravel RA

更新日期：1999-02-01 00:00:00

abstract：:Familial male-limited precocious puberty (FMPP) is a form of luteinizing hormone-releasing hormone (LHRH)-independent isosexual precocious puberty caused by gain-of-function mutations of the luteinizing hormone/chorionic gonadotropin receptor (hLHR). The most common mutation is 1733 A>G, which causes substitution of A...

journal_title：Molecular genetics and metabolism

authors： Wu SM,Leschek EW,Brain C,Chan WY

更新日期：1999-01-01 00:00:00

abstract：:The initial data on the effect of ruthenium red on mature human type-1 VDAC are presented. Highly enriched human type-1 porin in planar lipid bilayers shows lowered voltage-dependence whenever a commercially available ruthenium red preparation is applied. The hexavalent polycationic dye ruthenium red affects different...

journal_title：Molecular genetics and metabolism

authors： Siadat S,Reymann S,Horn A,Thinnes FP

更新日期：1998-11-01 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：:Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by pigment dilution, nystagmus, decreased visual acuity, a bleeding diathesis, and lysosomal accumulation of ceroid lipofuscin. Electron microscopic evidence demonstrating lack of platelet-dense bodies provides the sine qua non for diagno...

journal_title：Molecular genetics and metabolism

authors： Shotelersuk V,Gahl WA

更新日期：1998-10-01 00:00:00

abstract：:Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder resulting from the deficient activity of the heme biosynthetic enzyme uroporphyrinogen III synthase (UROS). Severely affected patients are transfusion dependent and have mutilating cutaneous manifestations. Successful bone marrow transplantat...

journal_title：Molecular genetics and metabolism

authors： Kauppinen R,Glass IA,Aizencang G,Astrin KH,Atweh GF,Desnick RJ

更新日期：1998-09-01 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：:Epstein-Barr virus (EBV) has been associated with several malignant processes in man, most notably Burkitt lymphoma in previously healthy individuals and lesions resembling large cell non-Hodgkin lymphomas in organ transplant recipients. Mice with the severe combined immunodeficiency phenotype (SCID mice) are exquisit...

journal_title：Molecular genetics and metabolism

authors： Salimi B,O'Gorman MR,Variakojis D,Bendet M,Newman M,Poupko E,Katz BZ

更新日期：1998-07-01 00:00:00

abstract：:The only known Japanese child with biotinidase deficiency was identified by newborn screening in Japan. He has 10.8% of mean normal serum biotinyl-hydrolase activity and trace biotinyl-transferase activity. The mutation results in 16% of normal cross-reacting material in serum with antibody to purified normal biotinid...

journal_title：Molecular genetics and metabolism

authors： Pomponio RJ,Yamaguchi A,Arashima S,Hymes J,Wolf B

更新日期：1998-06-01 00:00:00

abstract：:In utero cocaine exposure can affect CNS development. Previous studies showed that cocaine inhibits neuronal differentiation in a dose-dependent fashion, in nerve growth factor (NGF)-stimulated PC12 cells, without affecting cell viability. NGF activates intracellular signaling proteins, specific immediate-early genes ...

journal_title：Molecular genetics and metabolism

authors： Zachor DA,Moore JF,Jin J,Theibert AB,Percy AK

更新日期：1998-05-01 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：:Human reproductive function is regulated mainly by luteinizing hormone (LH) and follicle-stimulating hormone (FSH). Mutations of the human LH/ chorionic gonadotropin receptor (LHR) and the FSH receptor (FSHR) leading to either constitutive activation or inactivation of the receptors have been identified. All activatin...

journal_title：Molecular genetics and metabolism

authors： Chan WY

更新日期：1998-02-01 00:00:00

abstract：:We analyzed constitutional and tumor DNA from 27 MEN1 kindreds not known to be related to each other. Disease allele haplotypes were constructed for each pedigree based on shared alleles from two or more affected members and from determination of allelic loss patterns in their tumors. Analysis of disease allele haplot...

journal_title：Molecular genetics and metabolism

authors： Emmert-Buck MR,Debelenko LV,Agarwal S,Kester MB,Manickam P,Zhuang Z,Guru SC,Olufemi SE,Burns AL,Chandrasekharappa SC,Lubensky IA,Liotta LA,Skarulis MC,Spiegel AM,Marx SJ,Collins FS

更新日期：1998-02-01 00:00:00