Molecular Genetics and Metabolism

1

A non-synonymous variant in SLC30A8 is not associated with type 1 diabetes in the Danish population

Caroline Brorsson, Regine Bergholdt, Marketa Sjögren, Stefanie Eising, Karina Meden Sørensen, David M. Hougaard, Marju Orho-Melander, Leif Groop, Flemming Pociot

Journal:

Year:

2008

Language:

english

File:

PDF, 153 KB

english, 2008

2

Maroteaux–Lamy syndrome: Functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene

Elena Garrido, Bru Cormand, John J. Hopwood, Amparo Chabás, Daniel Grinberg, Lluïsa Vilageliu

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 1.37 MB

english, 2008

3

Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson–Mendenhall syndrome

Christian T. Thiel, Birgit Knebel, Ina Knerr, Heinrich Sticht, D. Müller-Wieland, Martin Zenker, Andre Reis, Helmuth-Günther Dörr, Anita Rauch

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 1.17 MB

english, 2008

4

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

Xiaoye Schneider-Yin, Dana Ulbrichova, Rivka Mamet, Pavel Martasek, Christopher C. Marohnic, Avner Goren, Elisabeth I. Minder, Nili Schoenfeld

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 318 KB

english, 2008

5

Early and presymptomatic detection of Wilson’s disease at the mandatory 3-year-old medical health care examination in Hokkaido Prefecture with the use of a novel automated urinary ceruloplasmin assay

Kenji Nakayama, Mitsuru Kubota, Yoshinobu Katoh, Yukiharu Sawada, Akiko Saito, Kazuhiko Nishimura, Eiji Katsura, Naoshi Ichihara, Tomohiro Suzuki, Hirokazu Kouguchi, Masahide Tamura, Hiroshi Honma, Se

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 230 KB

english, 2008

6

Treatment of Fabry disease with different dosing regimens of agalsidase: Effects on antibody formation and GL-3

Anouk C. Vedder, Frank Breunig, Wilma E. Donker-Koopman, Kevin Mills, Elisabeth Young, Bryan Winchester, Ineke J.M. Ten Berge, Johanna E.M. Groener, Johannes M.F.G. Aerts, Christoph Wanner, Carla E.M.

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 231 KB

english, 2008

7

Methionine synthase reductase deficiency results in adverse reproductive outcomes and congenital heart defects in mice

Liyuan Deng, C. Lee Elmore, Andrea K. Lawrance, Rowena G. Matthews, Rima Rozen

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 788 KB

english, 2008

8

Newborn screening for glutaric aciduria type I in Victoria: Treatment and outcome

Avihu Boneh, Miriam Beauchamp, Maureen Humphrey, Jemma Watkins, Heidi Peters, Joy Yaplito-Lee

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 261 KB

english, 2008

9

Inherited endocrinopathies: An update

Catherine E. Lewis, Michael W. Yeh

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 1.65 MB

english, 2008

10

Reduced α-Gal A enzyme activity in Fabry fibroblast cells and Fabry mice tissues induced by serum from antibody positive patients with Fabry disease

Toya Ohashi, Sayoko Iizuka, Hiroyuki Ida, Yoshikatsu Eto

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 224 KB

english, 2008

11

Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency

Katharina Engel, Jean-Marc Nuoffer, Chris Mühlhausen, Vera Klaus, Carlo R. Largiadèr, Konstantinos Tsiakas, René Santer, Bendicht Wermuth, Johannes Häberle

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 1.10 MB

english, 2008

12

Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands. Study of a spectrum of missense mutants

M.B. Coulter-Mackie, Q. Lian

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 442 KB

english, 2008

13

Upstream transcription factor 1 (USF1) in risk of type 2 diabetes: Association study in 2000 Dutch Caucasians

Steven J.R. Meex, Jana V. van Vliet-Ostaptchouk, Carla J.H. van der Kallen, Marleen M.J. van Greevenbroek, Casper G. Schalkwijk, Edith J.M. Feskens, Ellen E. Blaak, Cisca Wijmenga, Marten H. Hofker, C

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 227 KB

english, 2008

14

The aggresome pathway as a target for therapy in hematologic malignancies

Tiffany Simms-Waldrip, Agustin Rodriguez-Gonzalez, Tara Lin, Alan K. Ikeda, Cecilia Fu, Kathleen M. Sakamoto

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 242 KB

english, 2008

15

Human betaine-homocysteine methyltransferase (BHMT) and BHMT2: Common gene sequence variation and functional characterization

Fang Li, Qiping Feng, Candace Lee, Shuzhan Wang, Linda L. Pelleymounter, Irene Moon, Bruce W. Eckloff, Eric D. Wieben, Daniel J. Schaid, Vivien Yee, Richard M. Weinshilboum

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 1.55 MB

english, 2008

16

The PPARγ2 Pro12Ala variant predicts ESRD and mortality in patients with type 1 diabetes and diabetic nephropathy

A. Jorsal, L. Tarnow, M. Lajer, J. Ek, T. Hansen, O. Pedersen, H.-H. Parving

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 246 KB

english, 2008

17

Functional assay of the mutant tissue-nonspecific alkaline phosphatase gene using U2OS osteoblast-like cells

Hideo Orimo, Masae Goseki-Sone, Takayuki Hosoi, Takashi Shimada

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 553 KB

english, 2008

18

Development of a model for assessment of phenylalanine hydroxylase activity in newborns with phenylketonuria receiving tetrahydrobiopterin: A potential for practical implementation

Miroslaw Bik-Multanowski, Jacek J. Pietrzyk, Bozena Didycz, Agnieszka Szymczakiewicz-Multanowska

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 136 KB

english, 2008

19

Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA)

Annalisa Schirinzi, Marta Centra, Clelia Prattichizzo, Maddalena Gigante, Marco De Fabritiis, Vincenzo Giancaspro, Francesco Petrarulo, Rossana Santacroce, Maurizio Margaglione, Loreto Gesualdo, Elena

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 356 KB

english, 2008

20

Upregulation of elastase proteins results in aortic dilatation in mucopolysaccharidosis I mice

Xiucui Ma, Mindy Tittiger, Russell H. Knutsen, Attila Kovacs, Laura Schaller, Robert P. Mecham, Katherine P. Ponder

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 1.16 MB

english, 2008

21

Cover 2 / Ed. Board

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 3.90 MB

english, 2008

22

Volume 94; Issue 3

A non-synonymous variant in SLC30A8 is not associated with type 1 diabetes in the Danish population

Maroteaux–Lamy syndrome: Functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene

Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson–Mendenhall syndrome

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

Early and presymptomatic detection of Wilson’s disease at the mandatory 3-year-old medical health care examination in Hokkaido Prefecture with the use of a novel automated urinary ceruloplasmin assay

Treatment of Fabry disease with different dosing regimens of agalsidase: Effects on antibody formation and GL-3

Methionine synthase reductase deficiency results in adverse reproductive outcomes and congenital heart defects in mice

Newborn screening for glutaric aciduria type I in Victoria: Treatment and outcome

Inherited endocrinopathies: An update

Reduced α-Gal A enzyme activity in Fabry fibroblast cells and Fabry mice tissues induced by serum from antibody positive patients with Fabry disease

Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency

Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands. Study of a spectrum of missense mutants

Upstream transcription factor 1 (USF1) in risk of type 2 diabetes: Association study in 2000 Dutch Caucasians

The aggresome pathway as a target for therapy in hematologic malignancies

Human betaine-homocysteine methyltransferase (BHMT) and BHMT2: Common gene sequence variation and functional characterization

The PPARγ2 Pro12Ala variant predicts ESRD and mortality in patients with type 1 diabetes and diabetic nephropathy

Functional assay of the mutant tissue-nonspecific alkaline phosphatase gene using U2OS osteoblast-like cells

Development of a model for assessment of phenylalanine hydroxylase activity in newborns with phenylketonuria receiving tetrahydrobiopterin: A potential for practical implementation

Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA)

Upregulation of elastase proteins results in aortic dilatation in mucopolysaccharidosis I mice

Cover 2 / Ed. Board

Table of Contents