Works matching IS 09646906 AND DT 1999 AND VI 8 AND IP 7

Results: 23

Defective chromosome segregation, microtubule bundling and nuclear bridging in inner centromere protein gene (Incenp)-disrupted mice.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 7, p. 1145, doi. 10.1093/hmg/8.7.1145

By:

Cutts, Suzanne M.;
Fowler, Kerry J.;
Kile, Benjamin T.;
Hii, Linda L.P.;
O'Dowd, Rachael A.;
Hudson, Damien F.;
Saffery, Richard;
Kalitsis, Paul;
Earle, Elizabeth;
Choo, K.H.A.

Publication type:

Article

Ultrastructural localization and progressive formation of neuropil aggregates in Huntington's disease transgenic mice.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 7, p. 1227, doi. 10.1093/hmg/8.7.1227

By:

Li, He;
Li, Shi-Hua;
Cheng, Anna L.;
Mangiarini, Laura;
Bates, Gillian P.;
Li, Xiao-Jiang

Publication type:

Article

Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 7, p. 1245, doi. 10.1093/hmg/8.7.1245

By:

Warner, Laura E.;
Svaren, John;
Milbrandt, Jeffrey;
Lupski, James R.

Publication type:

Article

Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 7, p. 1185, doi. 10.1093/hmg/8.7.1185

By:

Ishikawa, Kinya;
Fujigasaki, Hiroto;
Saegusa, Hironao;
Ohwada, Kiyoshi;
Fujita, Tsuneo;
Iwamoto, Hiroyuki;
Komatsuzaki, Yasuko;
Toru, Shuta;
Toriyama, Hideyuki;
Watanabe, Masahiko;
Ohkoshi, Norio;
Shoji, Shin'ichi;
Kanazawa, Ichiro;
Tanabe, Tsutomu;
Mizusawa, Hidehiro

Publication type:

Article

A missense mutation in connexin26, D66H, cases mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 7, p. 1237, doi. 10.1093/hmg/8.7.1237

By:

Maestrini, Elena;
Korge, Bernhard P.;
Ocana-Sierra, Juan;
Calzolari, Elisa;
Cambiaghi, Stefano;
Scudder, Pat M.;
Hovnanian, Alain;
Monaco, Anthony P.;
Munro, Colin S.

Publication type:

Article

Presenilins interact with Rab 11, a small GTPase involved in the regulation of vesicular transport.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 7, p. 1263, doi. 10.1093/hmg/8.7.1263

By:

Dumanchin, Cecile;
Czech, Christian;
Campion, Dominique;
Cuif, Marie Helene;
Poyot, Thomas;
Martin, Cosette;
Charbonnier, Francoise;
Goud, Bruno;
Pradier, Laurent;
Frebourg, Thierry

Publication type:

Article

Extensive gene order differences within regions of conserved synteny between the Fugu and human genomes: implications for chromosomal evolution and the cloning of disease genes.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 7, p. 1313, doi. 10.1093/hmg/8.7.1313

By:

Gilley, Jonathan;
Fried, Mike

Publication type:

Article

Structural and functional rescue of murine rod photoreceptors by human rhodopsin transgene.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 7, p. 1309, doi. 10.1093/hmg/8.7.1309

By:

McNally, Niamh;
Kenna, Paul;
Humphries, Marian M.;
Hobson, Audrey H.;
Khan, Noheed W.;
Bush, Ron A.;
Sieving, Paul A.;
Humphries, Peter;
Farrar, G.Jane

Publication type:

Article

New gene family defined by MORC, a nuclear protein required for mouse spermatogenesis.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 7, p. 201, doi. 10.1093/hmg/8.7.1201

By:

Inoue, Norimitsu;
Hess, Karl D.;
Moreadith, Randall W.;
Richardson, Laura L.;
Handel, Mary Ann;
Watson, Mark L.;
Zinn, Andrew R.

Publication type:

Article

Identification of survival motor neuron as a transcriptional activator-binding protein.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 7, p. 1219, doi. 10.1093/hmg/8.7.1219

By:

Strasswimmer, John;
Lorson, Christian L.;
Breiding, David E.;
Chen, Jason J.;
Le, Than;
Burghes, Arthur H. M.;
Androphy, Elliot J.

Publication type:

Article

Expression of human F8B, a gene nested within the coagulation factor VIII gene, produces multiple eye defects and developmental alterations in chimeric and transgenic mice.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 7, p. 1291, doi. 10.1093/hmg/8.7.1291

By:

Valleix, Sophie;
Jeanny, Jean-Claude;
Elsevier, Susan;
Joshi, Rajiv L.;
Fayet, Patricia;
Bucchini, Danielle;
Delpech, Marc

Publication type:

Article

Up71 and Up140, two novel transcripts of utrophin that are homologues of short forms of dystrophin.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 7, p. 1271, doi. 10.1093/hmg/8.7.1271

By:

Wilson, James;
Putt, Wendy;
Jimenez, Cecilia;
Edwards, Yvonne H.

Publication type:

Article

The cytotoxic T lymphocyte antigen-4 is a major Graves' disease locus.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 7, p. 1195, doi. 10.1093/hmg/8.7.1195

By:

Vaidya, Bijayeswar;
Imrie, Helen;
Perros, Petros;
Young, Eric T.;
Kelly, William F.;
Carr, David;
Large, David M.;
Toft, Anthony D.;
McCarthy, Mark I.;
Kendall-Taylor, Pat;
Pearce, Simon H.S.

Publication type:

Article

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 7, p. 1321, doi. 10.1093/hmg/8.7.1321

By:

Coucke, Paul J.;
Hauwe, Peter Van;
Kelley, Philip M.;
Kunst, Henricus;
Schatteman, Isabelle;
Van Velzen, Desiree;
Meyers, Johan;
Ensink, Robbert J.;
Verstreken, Margriet;
Declau, Frank;
Marres, Henri;
Kastury, Kumar;
Bhasin, Shalender;
McGuirt, Wyman T.;
Smith, Richard J.H.;
Cremers, Cor W.R.J.;
Van de Heyning, Paul;
Willems, Patrick J.;
Smith, Shelley D.;
Van Camp, Guy

Publication type:

Article

A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3'-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 7, p. 1253, doi. 10.1093/hmg/8.7.1253

By:

Coy, Johannes F.;
Sedlacek, Zdenek;
Bachner, Dietmar;
Delius, Hajo;
Poustka, Annemarie

Publication type:

Article

High level expression of expanded full-length ataxin-3 in vitro causes cell death and formation of intranuclear inclusions in neuronal cells.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 7, p. 1169, doi. 10.1093/hmg/8.7.1169

By:

Evert, Bernd O.;
Wullner, Ullrich;
Schulz, Jorg B.;
Weller, Michael;
Groscurth, Peter;
Trottier, Yvon;
Brice, Alexis;
Klockgether, Thomas

Publication type:

Article

Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 7, p. 1329, doi. 10.1093/hmg/8.7.1329

By:

Salmikangas, Paula;
Mykkanan, Oli-Matti;
Gronholm, Mikaela;
Heiska, Leena;
Kere, Juha;
Carpen, Olli

Publication type:

Article

Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 7, p. 1303, doi. 10.1093/hmg/8.7.1303

By:

Willcutts, Michael D.;
Felner, Eric;
White, Perrin C.

Publication type:

Article

Multipoint analysis of human chromosome 11p15/mouse distal chromosome 7: inclusion of H19/IGF2 in the minimal WT2 region, gene specificity of H19 silencing in Wilms' tumorigenesis and methylation hyper-dependence of H19 imprinting.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 7, p. 1337, doi. 10.1093/hmg/8.7.1337

By:

Dao, Diem;
Walsh, Colum P.;
Yuan, Luwa;
Gorelov, Dmitri;
Feng, Lin;
Hensle, Terrence;
Nisen, Perry;
Yamashiro, Darrell J.;
Bestor, Timothy H.;
Tycko, Benjamin

Publication type:

Article

LIT1, an imprinted antisense RNA in the human KvLQT1 locus indentified by screening for differntially expressed transcripts using monochromosomal hybrids.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 7, p. 1209, doi. 10.1093/hmg/8.7.1209

By:

Mitsuya, Kohzoh;
Meguro, Makiko;
Lee, Maxwell P.;
Katoh, Motonobu;
Schulz, Thomas C.;
Kugoh, Hiroyuki;
Yoshida, Mitsuaki A.;
Niikawa, Norio;
Feinberg, Andrew P.;
Oshimura, Mitsuo

Publication type:

Article

Allelic and locus heterogeneity in inherited venous malformations.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 7, p. 1279, doi. 10.1093/hmg/8.7.1279

By:

Calvert, Jennifer T.;
Riney, Travis J.;
Kontos, Christopher D.;
Cha, Eugene H.;
Prieto, Victor G.;
Shea, Christopher R.;
Berg, Jonathan N.;
Nevin, Norman C.;
Simpson, Sheila A.;
Pasyk, Krystyna A.;
Speer, Marcy C.;
Peters, Kevin G.;
Marchuk, Douglas A.

Publication type:

Article

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 7, p. 1177, doi. 10.1093/hmg/8.7.1177

By:

Monani, Umrao R.;
Lorson, Christian L.;
Parsons, D. William;
Prior, Thomas W.;
Androphy, Elliot J.;
Burghes, Arthur H. M.;
McPherson, John D.

Publication type:

Article

A common molecular basis for rearrangement disorders on chromosome 22q11.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 7, p. 1157, doi. 10.1093/hmg/8.7.1157

By:

Edelmann, Lisa;
Pandita, Raj K.;
Spiteri, Elizabeth;
Funke, Birgit;
Goldberg, Rosalie;
Palanisamy, Nallasivam;
Changanti, R.S.K.;
Magenis, Ellen;
Shprintzen, Robert J.;
Morrow, Bernice E.

Publication type:

Article