Human Mutation

Cover image for Human Mutation

May 2008

Volume 29, Issue 5

Pages 567–770

  1. Mutation Updates

    1. Top of page
    2. Mutation Updates
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Meeting Report
    8. Mutations in Brief
    1. You have free access to this content
      Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA) (pages 567–583)

      Kathleen S. Hruska, Mary E. LaMarca, C. Ronald Scott and Ellen Sidransky

      Version of Record online: 12 MAR 2008 | DOI: 10.1002/humu.20676

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      MID1 mutations in patients with X-linked Opitz G/BBB syndrome (pages 584–594)

      Bianca Fontanella, Giorgio Russolillo and Germana Meroni

      Version of Record online: 21 MAR 2008 | DOI: 10.1002/humu.20706

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      Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations (pages 595–604)

      Francesca Fusco, Alessandra Pescatore, Elodie Bal, Aida Ghoul, Mariateresa Paciolla, Maria Brigida Lioi, Michele D'Urso, Smail Hadj Rabia, Christine Bodemer, Jean Paul Bonnefont, Arnold Munnich, Maria Giuseppina Miano, Asma Smahi and Matilde Valeria Ursini

      Version of Record online: 18 MAR 2008 | DOI: 10.1002/humu.20739

  2. Databases

    1. Top of page
    2. Mutation Updates
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Meeting Report
    8. Mutations in Brief
    1. You have free access to this content
      The human retinitis pigmentosa GTPase regulator gene variant database (pages 605–608)

      Xinhua Shu, Ewan McDowall, Alastair F. Brown and Alan F. Wright

      Version of Record online: 24 MAR 2008 | DOI: 10.1002/humu.20733

  3. Rapid Communications

    1. Top of page
    2. Mutation Updates
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Meeting Report
    8. Mutations in Brief
    1. Frequent mutations in the neurotrophic tyrosine receptor kinase gene family in large cell neuroendocrine carcinoma of the lung (pages 609–616)

      Antonio Marchetti, Lara Felicioni, Giuseppe Pelosi, Maela Del Grammastro, Caterina Fumagalli, Mariagrazia Sciarrotta, Sara Malatesta, Antonio Chella, Fabio Barassi, Felice Mucilli, Pierpaolo Camplese, Tommaso D'Antuono, Rocco Sacco and Fiamma Buttitta

      Version of Record online: 21 FEB 2008 | DOI: 10.1002/humu.20707

    2. Frequent BRG1/SMARCA4–inactivating mutations in human lung cancer cell lines (pages 617–622)

      Pedro P. Medina, Octavio A. Romero, Takashi Kohno, Luis M. Montuenga, Ruben Pio, Jun Yokota and Montse Sanchez-Cespedes

      Version of Record online: 3 APR 2008 | DOI: 10.1002/humu.20730

  4. Research Articles

    1. Top of page
    2. Mutation Updates
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Meeting Report
    8. Mutations in Brief
    1. CYBB, an NADPH-oxidase gene: restricted diversity in humans and evidence for differential long-term purifying selection on transmembrane and cytosolic domains (pages 623–632)

      Eduardo Tarazona-Santos, Toralf Bernig, Laurie Burdett, Wagner C.S. Magalhaes, Cristina Fabbri, Jason Liao, Rodrigo A.F. Redondo, Robert Welch, Meredith Yeager and Stephen J. Chanock

      Version of Record online: 15 FEB 2008 | DOI: 10.1002/humu.20667

    2. In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay (pages 633–639)

      Elizabeth L. Greene, Anelia D. Horvath, Maria Nesterova, Christoforos Giatzakis, Ioannis Bossis and Constantine A. Stratakis

      Version of Record online: 1 FEB 2008 | DOI: 10.1002/humu.20688

    3. A human phospholamban promoter polymorphism in dilated cardiomyopathy alters transcriptional regulation by glucocorticoids (pages 640–647)

      Kobra Haghighi, Guoli Chen, Yoji Sato, Guo-Chang Fan, Suiwen He, Fotis Kolokathis, Luke Pater, Ioannis Paraskevaidis, W. Keith. Jones, Gerald W. Dorn II, Dimitrios Th. Kremastinos and Evangelia G. Kranias

      Version of Record online: 1 FEB 2008 | DOI: 10.1002/humu.20692

    4. 6-mercaptopurine and 9-(2-phosphonyl-methoxyethyl) adenine (PMEA) transport altered by two missense mutations in the drug transporter gene ABCC4 (pages 659–669)

      Daniel Janke, Sherif Mehralivand, Dennis Strand, Ute Gödtel-Armbrust, Alice Habermeier, Ulrike Gradhand, Christine Fischer, Mohammad R. Toliat, Peter Fritz, Ulrich M. Zanger, Matthias Schwab, Martin F. Fromm, Peter Nürnberg, Leszek Wojnowski, Ellen I. Closs and Thomas Lang

      Version of Record online: 25 FEB 2008 | DOI: 10.1002/humu.20694

    5. Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores (pages 670–678)

      Nicole Monnier, Isabelle Marty, Julien Faure, Claudia Castiglioni, Claude Desnuelle, Sabrina Sacconi, Brigitte Estournet, Ana Ferreiro, Norma Romero, Annie Laquerriere, Leila Lazaro, Jean-Jacques Martin, Eva Morava, Annick Rossi, Anneke Van der Kooi, Marianne de Visser, Corien Verschuuren and Joël Lunardi

      Version of Record online: 1 FEB 2008 | DOI: 10.1002/humu.20696

    6. Novel and established CYP2A6 alleles impair in vivo nicotine metabolism in a population of Black African descent (pages 679–688)

      Jill C. Mwenifumbo, Nael Al Koudsi, Man Ki Ho, Qian Zhou, Ewa B. Hoffmann, Edward M. Sellers and Rachel F. Tyndale

      Version of Record online: 21 MAR 2008 | DOI: 10.1002/humu.20698

    7. K45R variant of squalene synthase increases total cholesterol levels in two study samples from a French Canadian population (pages 689–694)

      Ron Do, Guillaume Paré, Alexandre Montpetit, Thomas J. Hudson, Daniel Gaudet and James C. Engert

      Version of Record online: 18 MAR 2008 | DOI: 10.1002/humu.20702

    8. Integration of hepatitis B virus DNA into the myeloid/lymphoid or mixed-lineage leukemia (MLL4) gene and rearrangements of MLL4 in human hepatocellular carcinoma (pages 703–708)

      Kenichi Saigo, Kenichi Yoshida, Ryuji Ikeda, Yoshiko Sakamoto, Yoshiki Murakami, Tetsuro Urashima, Takehide Asano, Takashi Kenmochi and Ituro Inoue

      Version of Record online: 4 MAR 2008 | DOI: 10.1002/humu.20701

    9. Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex (pages 709–717)

      Sonja Stahl, Sabine Gaetzner, Katrin Voss, Bettina Brackertz, Elisa Schleider, Oguzkan Sürücü, Ekkehard Kunze, Christian Netzer, Christoph Korenke, Ulrich Finckh, Mario Habek, Zdravka Poljakovic, Miriam Elbracht, Sabine Rudnik-Schöneborn, Helmut Bertalanffy, Ulrich Sure and Ute Felbor

      Version of Record online: 25 FEB 2008 | DOI: 10.1002/humu.20712

    10. Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy (pages 718–727)

      Dengbing Yao, Hiroshi Mizuguchi, Miyoko Yamaguchi, Hiroshi Yamada, Junji Chida, Koji Shikata and Hiroshi Kido

      Version of Record online: 27 FEB 2008 | DOI: 10.1002/humu.20717

    11. Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule (pages 728–737)

      Akanchha Kesari, Laura N. Pirra, Lakshmi Bremadesam, Orinthal McIntyre, Erynn Gordon, Alberto L. Dubrovsky, V. Viswanathan and Eric P Hoffman

      Version of Record online: 17 MAR 2008 | DOI: 10.1002/humu.20722

    12. N-terminal CFTR missense variants severely affect the behavior of the CFTR chloride channel (pages 738–749)

      G.G. Gené, A. Llobet, S. Larriba, D. de Semir, I. Martínez, A. Escalada, C. Solsona, T. Casals and J.M. Aran

      Version of Record online: 27 FEB 2008 | DOI: 10.1002/humu.20721

  5. Methods

    1. Top of page
    2. Mutation Updates
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Meeting Report
    8. Mutations in Brief
    1. Validation of the performance of a comprehensive genotyping assay panel of single nucleotide polymorphisms in drug metabolism enzyme genes (pages 750–756)

      Robert A. Welch, Katherine Lazaruk, Kashif A. Haque, Fiona Hyland, Nianqing Xiao, Loni Wronka, Laura Burdett, Stephen J. Chanock, Daniel Ingber, Francisco M. De La Vega and Meredith Yeager

      Version of Record online: 7 MAR 2008 | DOI: 10.1002/humu.20703

    2. High-throughput amplicon scanning of the TP53 gene in breast cancer using high-resolution fluorescent melting curve analyses and automatic mutation calling (pages 757–764)

      Roy Bastien, Tracey B. Lewis, Jason E. Hawkes, John F. Quackenbush, Thomas C. Robbins, Juan Palazzo, Charles M. Perou and Philip S. Bernard

      Version of Record online: 17 MAR 2008 | DOI: 10.1002/humu.20726

  6. Meeting Report

    1. Top of page
    2. Mutation Updates
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Meeting Report
    8. Mutations in Brief
  7. Mutations in Brief

    1. Top of page
    2. Mutation Updates
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Meeting Report
    8. Mutations in Brief
    1. You have free access to this content
      A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family (page 769)

      Feng Gu, Weixiao Luo, Xin Li, Zhuoqun Wang, Shuang Lu, Meng Zhang, Baojian Zhao, Siquan Zhu, Shan Feng, Yong-bin Yan, Shangzhi Huang and Xu Ma

      Version of Record online: 11 APR 2008 | DOI: 10.1002/humu.20724

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      SORL1 is genetically associated with increased risk for late-onset Alzheimer disease in the Belgian population (pages 769–770)

      Karolien Bettens, Nathalie Brouwers, Sebastiaan Engelborghs, Peter P. De Deyn, Christine Van Broeckhoven and Kristel Sleegers

      Version of Record online: 11 APR 2008 | DOI: 10.1002/humu.20725

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      Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse) (page 770)

      Delphine Trochet, Loïc de Pontual, Maria Helena Estêvao, Yves Mathieu, Arnold Munnich, J. Feingold, Christo Goridis, Stanislas Lyonnet and Jeanne Amiel

      Version of Record online: 11 APR 2008 | DOI: 10.1002/humu.20727

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      The Mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A Syndrome) (page 770)

      Ann Meyer, Kai Kossow, Andreas Gal, Cordula Steglich, Chris Mühlhausen, Kurt Ullrich, Thomas Braulke and Nicole Muschol

      Version of Record online: 11 APR 2008 | DOI: 10.1002/humu.20738

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