Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 23

Results: 14

Regulation of murine survivalmotor neuron (Smn) protein levels by modifying Smn exon 7 splicing.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 23, p. 2727, doi. 10.1093/hmg/10.23.2727

By:

DiDonato, Christine J.;
Lorson, ChristianL.;
DeRepentigny, Yves;
Simard, Louise;
Chartrand, Chantal;
Androphy, ElliotJ.;
Kothary, Rashmi

Publication type:

Article

The IC-SNURF–SNRPN transcriptserves as a host for multiple small nucleolar RNA species and asan antisense RNA for UBE3A.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 23, p. 2687, doi. 10.1093/hmg/10.23.2687

By:

Runte, Maren;
Hüttenhofer, Alexander;
Groß, Stephanie;
Kiefmann, Martin;
Horsthemke, Bernhard;
Buiting, Karin

Publication type:

Article

Origin of alternative splicingby tandem exon duplication.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 23, p. 2661, doi. 10.1093/hmg/10.23.2661

By:

Kondrashov, Fyodor A.;
KooninTo whom correspondence shouldbe addressed. Tel: +1 301 535 5913; Fax: +1 301435 7794; Email: koonin@ncbi.nlm.nih.gov, EugeneV.

Publication type:

Article

Dramatic phenotypic improvementduring pregnancy in a genetic leukodystrophy: estrogen appears tobe a critical factor.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 23, p. 2709, doi. 10.1093/hmg/10.23.2709

By:

Matsuda, Junko;
Vanier, Marie T.;
Saito, Yuko;
Suzuki, Kinuko;
Suzuki, Kunihiko

Publication type:

Article

Suppression of the deafness andthyroid dysfunction in Thrb-null mice by an independentmutation in the Thra thyroid hormone receptor α gene.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 23, p. 2701

By:

Ng, Lily;
Rüsch, Alfons;
Amma, Lori L.;
Nordström, Kristina;
Erway, Lawrence C.;
Vennström, Björn;
Forrest, Douglas

Publication type:

Article

Cosegregation and functionalanalysis of mutant ABCR (ABCA4)alleles in families that manifest both Stargardt disease and age-relatedmacular degeneration.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 23, p. 2671, doi. 10.1093/hmg/10.23.2671

By:

Shroyer, Noah F.;
Lewis, RichardAlan;
N.Yatsenko, Alexander;
Wensel, TheodoreG.;
Lupski, James R.

Publication type:

Article

Long AT-rich palindromes and the constitutional t(11;22)breakpoint.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 23, p. 2605, doi. 10.1093/hmg/10.23.2605

By:

Kurahashi, Hiroki;
Emanuel, Beverly S.

Publication type:

Article

Large scale mapping of methylcytosinesin CTCF-binding sites in the human H19 promoter and aberranthypomethylation in human bladder cancer.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 23, p. 2619, doi. 10.1093/hmg/10.23.2619

By:

Takai, Daiya;
Gonzales, FelicidadA.;
Tsai, YvonneC.;
Thayer, MathewJ.;
Jones, PeterA.

Publication type:

Article

Fanconi anemia protein, FANCA,associates with BRG1, a component of the human SWI/SNFcomplex.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 23, p. 2651, doi. 10.1093/hmg/10.23.2651

By:

Otsuki, Tetsuya;
Furukawa, Yusuke;
Ikeda, Keiko;
Endo, Hitoshi;
Yamashita, Takayuki;
Shinohara, Azusa;
Iwamatsu, Akihiko;
Ozawa, Keiya;
Liu, JohnsonM.

Publication type:

Article

Mice deleted for the DiGeorge/velocardiofacial syndromeregion show abnormal sensorimotor gating and learning and memoryimpairments.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 23, p. 2645, doi. 10.1093/hmg/10.23.2645

By:

Paylor, Richard;
McIlwain, KellieL.;
McAninch, Robin;
Nellis, Anna;
Yuva-Paylor, Lisa A.;
Baldini, Antonio;
Lindsay, ElizabethA.

Publication type:

Article

Mice transgenic for the humanmyotonic dystrophy region with expanded CTG repeats display muscular andbrain abnormalities.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 23, p. 2717, doi. 10.1093/hmg/10.23.2717

By:

Seznec, Hervé;
Agbulut, Onnik;
Sergeant, Nicolas;
Savouret, Cédric;
Ghestem, Antoine;
Tabti, Nacira;
Willer, Jean-Claude;
Ourth, Lucie;
Duros, Chantal;
Brisson, Edith;
Fouquet, Coralie;
Butler-Browne, Gillian;
Delacourte, André;
Junien, Claudine;
Gourdon, Geneviève

Publication type:

Article

Defective nephrin traffickingcaused by missense mutations in the NPHS1 gene:insight into the mechanisms of congenital nephrotic syndrome.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 23, p. 2637, doi. 10.1093/hmg/10.23.2637

By:

Liu, Li;
Doné, StefaniaCotta;
Khoshnoodi, Jamshid;
Bertorello, Alejandro;
Wartiovaara, Jorma;
Berggren, Per-Olof;
Tryggvason, Karl

Publication type:

Article

A deep intronic mutation in CDKN2A is associated with disease in a subset ofmelanoma pedigrees.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 23, p. 2679, doi. 10.1093/hmg/10.23.2679

By:

Harland, Mark;
Mistry, Sushila;
Bishop, D.Timothy;
Newton Bishop, JuliaA.

Publication type:

Article

Dystrophin muscle enhancer 1is implicated in the activation of non-muscle isoforms in the skeletal muscleof patients with X-linked dilated cardiomyopathy.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 23, p. 2627, doi. 10.1093/hmg/10.23.2627

By:

Bastianutto, Carlo;
Bestard, JenniferA.;
Lahnakoski, Karina;
Broere, Daniel;
De Visser, Marianne;
Zaccolo, Manuela;
Pozzan, Tullio;
Ferlini, Alessandra;
Muntoni, Francesco;
Patarnello, Tomaso;
KlamutTowhom correspondence should be addressed at: Ontario Cancer Institute,Princess Margaret Hospital, University Health Network, Room 10-721, 610 University Avenue, Toronto, Ontario, M5G 2M9, Canada. Tel: +1416 946 2981; Fax: +1 416 946 2984; ..., Henry J.

Publication type:

Article