Human Molecular Genetics - Table of Contents
Volume 08, January - December 1999: Issue 03 -
Location at: http://www.oup.co.uk/hmg/Volume_08/Issue_03/
Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism
Yuichi Oike, Akira Hata, Takayoshi Mamiya, Tadashi Kaname, Yukihiro Noda, Misao Suzuki, Hirofumi Yasue, Toshitaka Nabeshima, Kimi Araki, Ken-ichi Yamamura
Pages 387-396
Document ID = hmg_08_03_ddc050_gml
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Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin
Gabriele Schilling, Mark W. Becher, Alan H. Sharp, Hyder A. Jinnah, Kui Duan, Joyce A. Kotzuk, Hilda H. Slunt, Tamara Ratovitski, Jillian K. Cooper, Nancy A. Jenkins, Neal G. Copeland, Donald L. Price, Christopher A. Ross and David R. Borchelt
Pages 397-407
Document ID = hmg_08_03_ddc057_gml
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An [alpha]-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21
Mirna Mustapha, Dominique Weil, Sebastien Chardenoux, Sanaa Elias, Elie El-Zir, Jacques S. Beckmann, Jacques Loiselet, Christine Petit
Pages 409-412
Document ID = hmg_08_03_ddc055_gml
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Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations
Teresa M. U. Wagner, Kora Hirtenlehner, Peidong Shen, Regina Moeslinger, Daniela Muhr, Elisabeth Fleischmann, Hans Concin7,, Walter Doeller8,, Anton Haid9,, Alois Hermann Lang10,, Peter Mayer11,, Edgar Petru12,, Erich Ropp13,, Gudrun Langbauer, Ernst Kubista, Otto Scheiner, Peter Underhill, Joanna Mountain, Michael Stierer, Cristoph Zielinski and Peter Oefner
Pages 413-423
Document ID = hmg_08_03_ddc048_gml
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The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis
Alice Wong, Joy Yang, Patrizia Cavadini, Cinzia Gellera, Bo Lonnerdal, Franco Taroni and Gino Cortopassi
Pages 425-430
Document ID = hmg_08_03_ddc051_gml
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Allele-specific late replication and fragility of the most active common fragile site, FRA3B
Liang Wang, John Darling, Jin-San Zhang, Haojie Huang, Wanguo Liu and David I. Smith
Pages 431-437
Document ID = hmg_08_03_ddc047_gml
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Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness
Anne B. Skvorak, Zhiping Weng, Andrew J. Yee, Nahid G. Robertson and Cynthia C. Morton
Pages 439-452
Document ID = hmg_08_03_ddc049_gml
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Single sperm analysis of the CAG repeats in the gene for dentatorubral-pallidoluysian atrophy (DRPLA): the instability of the CAG repeats in the DRPLA gene is prominent among the CAG repeat diseases
Yoshihisa Takiyama, Kumi Sakoe, Miho Amaike, Michiyo Soutome, Tomoko Ogawa, Imaharu Nakano and Masatoyo Nishizawa
Pages 453-457
Document ID = hmg_08_03_ddc046_gml
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Methylation profiling of CpG islands in human breast cancer cells
Tim Hui-Ming Huang, Martin R. Perry and Douglas E. Laux
Pages 459-470
Document ID = hmg_08_03_ddc052_gml
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Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3
Leslie K. Sprunger, Andrew Escayg, Sara Tallaksen-Greene, Roger L. Albin and Miriam H. Meisler
Pages 471-479
Document ID = hmg_08_03_ddc062_gml
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Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy
Catherine L. Winchester, Rod K. Ferrier, Adriana Sermoni, Brian J. Clark and Keith J. Johnson
Pages 481-492
Document ID = hmg_08_03_ddc060_gml
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Circular dystrophin RNAs consisting of exons that were skipped by alternative splicing
Agus Surono, Yasuhiro Takeshima, Tri Wibawa, Makoto Ikezawa, Ikuya Nonaka and Masafumi Matsuo
Pages 493-500
Document ID = hmg_08_03_ddc053_gml
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Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog chromosome 10, in a region syntenic to human chromosome region 2p13-p16
Bart J. A. van de Sluis, Matthew Breen, Manoj Nanji4, Monique van Wolferen, Pieter de Jong, Matthew M. Binns, Peter L. Pearson, Jeroen Kuipers, Jan Rothuizen, Diane W. Cox, Cisca Wijmenga and Bernard A. van Oost
Pages 501-507
Document ID = hmg_08_03_ddc059_gml
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Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease
Michael Koptides, Christos Hadjimichael, Panayiota Koupepidou, Alkis Pierides and C. Constantinou Deltas
Pages 509-513
Document ID = hmg_08_03_ddc054_gml
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Distinct mutation patterns of breast cancer-associated alleles of the HRAS1 minisatellite locus
Shaofeng Ding, Garry P. Larson, Kimberly Foldenauer, Guoxiang Zhang and Theodore G. Krontiris
Pages 515-521
Document ID = hmg_08_03_ddc056_gml
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The Batten disease gene product (CLN3p) is a Golgi integral membrane protein
Gabriel Kremmidiotis, Ingrid L. Lensink, Rebecca L. Bilton, Erica Woollatt, Timothy K. Chataway, Grant R. Sutherland and David F. Callen
Pages 523-531
Document ID = hmg_08_03_ddc061_gml
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The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities
Yonggang Ji, Mitchell J. Walkowicz, Karin Buiting, Dabney K. Johnson, Rocio E. Tarvin, Eugene M. Rinchik, Bernhard Horsthemke, Lisa Stubbs and Robert D. Nicholls
Pages 533-542
Document ID = hmg_08_03_ddc058_gml
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Identification of a human homologue of the sea urchin receptor for egg jelly: a polycystic kidney disease-like protein
Jim Hughes, Christopher J. Ward, Richard Aspinwall, Robin Butler and Peter C. Harris
Pages 543-549
Document ID = hmg_08_03_ddc063_gml
------------------------------
Corrigendum
Document ID = hmg_08_03_corrigenda_gml
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