Volume 71; Issue 1-2

Molecular Genetics and Metabolism

Volume 71; Issue 1-2

1

Homoplasmic Mitochondrial DNA Diseases as the Paradigm to Understand the Tissue Specificity and Variable Clinical Severity of Mitochondrial Disorders

Nathan Fischel-Ghodsian

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 44 KB

english, 2000

2

Molecular Heterosis: A Review

David E. Comings, James P. MacMurray

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 142 KB

english, 2000

3

Smith-Lemli-Opitz Syndrome: The First Malformation Syndrome Associated with Defective Cholesterol Synthesis

Kevin P. Battaile, Robert D. Steiner

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 69 KB

english, 2000

4

Bacterial Genetics and Human Immunity to Group B Streptococci

Elisabeth E. Adderson, Shinji Takahashi, John F. Bohnsack

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 57 KB

english, 2000

5

Folic Acid: Nutritional Biochemistry, Molecular Biology, and Role in Disease Processes

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 592 KB

english, 2000

6

Bilirubin Oxidation in Brain

Thor Willy Ruud Hansen

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 52 KB

english, 2000

7

Adenine Nucleotide Translocator in Heart

Michael A. Portman

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 47 KB

english, 2000

8

Advances in the Search for Psoriasis Susceptibility Genes

Francesca Capon, Bruno Dallapiccola, Giuseppe Novelli

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 47 KB

english, 2000

9

Induction of Cardiac Fibrosis by Transforming Growth Factor-β1

P.J. Lijnen, V.V. Petrov, R.H. Fagard

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 167 KB

english, 2000

10

Nonexpressing Homozygotes for C282Y Hemochromatosis: Minority or Majority of Cases?

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 52 KB

english, 2000

11

Maternal Phenylketonuria: An International Study

R. Koch, W. Hanley, H. Levy, R. Matalon, B. Rouse, F. Trefz, F. Guttler, C. Azen, E. Friedman, L. Platt, F. de la Cruz

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 85 KB

english, 2000

12

Osteogenesis Imperfecta: Prospects for Molecular Therapeutics

Antonella Forlino, Joan C. Marini

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 62 KB

english, 2000

13

Molecular Determinants of Fetal Lung Organogenesis

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 244 KB

english, 2000

14

Definition of a “Functional R Domain” of the Cystic Fibrosis Transmembrane Conductance Regulator

Jian-Min Chen, Virginie Scotet, Claude Ferec

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 386 KB

english, 2000

15

Genetic Determinants of Graves Disease

Dimitry A. Chistyakov, Kirill V. Savost'anov, Rustam I. Turakulov, Valery V. Nosikov

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 35 KB

english, 2000

16

Molecular Basis of Anthracycline-Induced Cardiotoxicity and Its Prevention

M.Silvana Horenstein, Richard S. Vander Heide, Thomas J. L'Ecuyer

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 94 KB

english, 2000

17

Regulation of the Insulin-Like Growth Factor-I Receptor Gene by Oncogenes and Antioncogenes: Implications in Human Cancer

Haim Werner, Michal Shalita-Chesner, Shirley Abramovitch, Gila Idelman, Limor Shaharabani-Gargir, Tova Glaser

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 46 KB

english, 2000

18

Genetics of Celiac Disease

Fabienne Clot, Marie-Claude Babron

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 36 KB

english, 2000

19

Signal Transduction Pathways in Hyperoxia-Induced Lung Cell Death

Lin L. Mantell, Patty J. Lee

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 92 KB

english, 2000

20

Molecular Genetic Testing for Familial Mediterranean Fever

Milhan Telatar, Wayne W. Grody

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 54 KB

english, 2000

21

Genetic and Epigenetic Regulation Schemes: Need for an Alternative Paradigm

Magali Roux-Rouquie

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 118 KB

english, 2000

22

Embryonic Stem Cells: A Model to Study Na,K-ATPase Isoform Expression during Development

Ayman Habiba, Robert W. Mercer

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 36 KB

english, 2000

23

Production of Mouse Models for the Study of Human Inborn Errors of Metabolism

J.David McDonald

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 38 KB

english, 2000

24

Genetic Risk Factors for Venous Thrombosis

C.Arnold Spek, Pieter H. Reitsma

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 74 KB

english, 2000

25

Modifier Genes Convert “Simple” Mendelian Disorders to Complex Traits

Katrina M. Dipple, Edward R.B. McCabe

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 57 KB

english, 2000

26

Surfactant Protein B and C Analogues

Frans J. Walther, Larry M. Gordon, Joseph A. Zasadzinski, Mark A. Sherman, Alan J. Waring

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 204 KB

english, 2000

27

A1 Adenosine Receptor in Human Spermatozoa: Its Role in the Fertilization Process

Cinzia Allegrucci, Lavinia Liguori, Isabella Mezzasoma, Alba Minelli

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 50 KB

english, 2000

28

Neural and Extraneural Expression of the Neuronal Ceroid Lipofuscinoses Genes CLN1, CLN2, and CLN3: Functional Implications for CLN3

Subrata Chattopadhyay, David A. Pearce

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 169 KB

english, 2000

29

Neuronal Ceroid Lipofuscinoses and Possible Pathogenic Mechanism

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 229 KB

english, 2000

30

Ubiquitin-Mediated Proteolysis and Human Disease

P.K. Vu, K.M. Sakamoto

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 95 KB

english, 2000

31

Connective Tissue Growth Factor: What's in a Name?

Essam El-Din A. Moussad, David R. Brigstock

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 306 KB

english, 2000

32

Deletions of 9p and the Quest for a Conserved Mechanism of Sex Determination

Chris Ottolenghi, Ken McElreavey

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 134 KB

english, 2000

33

The Structure and Function of the Niemann–Pick C1 Protein

Yiannis A. Ioannou

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 281 KB

english, 2000

34

Corneal Crystals in Nephropathic Cystinosis: Natural History and Treatment with Cysteamine Eyedrops

William A. Gahl, Ernest M. Kuehl, Fumino Iwata, Anne Lindblad, Muriel I. Kaiser-Kupfer

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 1.90 MB

english, 2000

35

Mitochondrial Glutathione and Oxidative Stress: Implications for Pulmonary Oxygen Toxicity in Premature Infants

Donough J. O'Donovan, Caraciolo J. Fernandes

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 69 KB

english, 2000

36

Gene-Related Protein Surplus Myopathies

Hans H. Goebel, Irene Warlo

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 1.38 MB

english, 2000

37

Liver Disease in Pregnancy and Fetal Fatty Acid Oxidation Defects

Jamal A. Ibdah, Zi Yang, Michael J. Bennett

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 107 KB

english, 2000

38

Synergistic Heterozygosity: Disease Resulting from Multiple Partial Defects in One or More Metabolic Pathways

Jerry Vockley, Piero Rinaldo, Michael J. Bennett, Dietrich Matern, Georgirene D. Vladutiu

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 62 KB

english, 2000

39

Celiac Disease: Strongly Heritable, Oligogenic, but Genetically Complex

Alistair L. King, Paul J. Ciclitira

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 51 KB

english, 2000

40

Growth Hormone (GH), GH Receptor, and Signal Transduction

John J. Kopchick, Jerald M. Andry

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 415 KB

english, 2000

41

RSH/Smith–Lemli–Opitz Syndrome: A Multiple Congenital Anomaly/Mental Retardation Syndrome due to an Inborn Error of Cholesterol Biosynthesis

Forbes D. Porter

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 202 KB

english, 2000

42

Lipoprotein(a), Atherosclerosis, and Apolipoprotein(a) Gene Polymorphism

Uttam Pati, Nirupma Pati

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 48 KB

english, 2000

43

Developmental Changes in the Expression of Neuronal Ceroid Lipofuscinoses-Linked Proteins

Jaana Suopanki, Sanna Partanen, Junji Ezaki, Marc Baumann, Eiki Kominami, Jaana Tyynelä

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 89 KB

english, 2000

44

Kidney Development: Regulatory Molecules Crucial to Both Mice and Men

Carlton M. Bates

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 76 KB

english, 2000

45

Molecular Basis of Disorders of Human Galactose Metabolism: Past, Present, and Future

Giuseppe Novelli, Juergen K.V. Reichardt

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 40 KB

english, 2000

46

Oxygen Regulation of Gene Expression: A Study in Opposites

Carl T. D'Angio, Jacob N. Finkelstein

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 112 KB

english, 2000

47

Genetics of Sex Determination: Exceptions That Prove the Rule

Ursula Mittwoch

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 62 KB

english, 2000

48

Mutations in the Lysyl Hydroxylase 1 Gene That Result in Enzyme Deficiency and the Clinical Phenotype of Ehlers–Danlos Syndrome Type VI

Heather N. Yeowell, Linda C. Walker

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 212 KB

english, 2000

49

Nutrition, Oxidative Damage, Telomere Shortening, and Cellular Senescence: Individual or Connected Agents of Aging?

Bridget J. Jennings, Susan E. Ozanne, C.Nicholas Hales

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 71 KB

english, 2000

50

Genomics of the Human Carnitine Acyltransferase Genes

Feike R. van der Leij, Nicolette C.A. Huijkman, Carolien Boomsma, Jaap R.G. Kuipers, Beatrijs Bartelds

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 241 KB

english, 2000

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