Works matching IS 09646906 AND DT 2003 AND VI 12 AND IP 14

Results: 13

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet–Biedl patients with two mutations at a second BBS locus.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 14, p. 1651, doi. 10.1093/hmg/ddg188

By:

Badano, Jose L.;
Kim, Jun Chul;
Hoskins, Bethan E.;
Lewis, Richard Alan;
Ansley, Stephen J.;
Cutler, David J.;
Castellan, Claudio;
Beales, Philip L.;
Leroux, Michel R.;
Katsanis, Nicholas

Publication type:

Article

Decreased expression of genes involved in sulfur amino acid metabolism in frataxin-deficient cells.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 14, p. 1699, doi. 10.1093/hmg/ddg187

By:

Tan, Guolin;
Napoli, Eleonora;
Taroni, Franco;
Cortopassi, Gino

Publication type:

Article

The CDY-related gene family: coordinated evolution in copy number, expression profile and protein sequence.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 14, p. 1643, doi. 10.1093/hmg/ddg185

By:

Dorus, Steve;
Gilbert, Sandra L.;
Forster, Michele L.;
Barndt, Robert J.;
Lahn, Bruce T.

Publication type:

Article

ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 14, p. 1671, doi. 10.1093/hmg/ddg184

By:

Otomo, Asako;
Hadano, Shinji;
Okada, Takeya;
Mizumura, Hikaru;
Kunita, Ryota;
Nishijima, Hitoshi;
Showguchi-Miyata, Junko;
Yanagisawa, Yoshiko;
Kohiki, Eri;
Suga, Etsuko;
Yasuda, Masanori;
Osuga, Hitoshi;
Nishimoto, Takeharu;
Narumiya, Shuh;
Ikeda, Joh-E

Publication type:

Article

Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 14, p. 1737, doi. 10.1093/hmg/ddg183

By:

Bakirtzis, George;
Choudhry, Rukhsana;
Aasen, Trond;
Shore, Leonard;
Brown, Ken;
Bryson, Sheila;
Forrow, Stephen;
Tetley, Laurence;
Finbow, Malcolm;
Greenhalgh, David;
Hodgins, Malcolm

Publication type:

Article

Dimerization of SOX9 is required for chondrogenesis, but not for sex determination.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 14, p. 1755, doi. 10.1093/hmg/ddg182

By:

Bernard, Pascal;
Tang, Paisu;
Liu, Siyuan;
Dewing, Phoebe;
Harley, Vincent R.;
Vilain, Eric

Publication type:

Article

82-FIP, a novel FMRP (Fragile X Mental Retardation Protein) interacting protein, shows a cell cycle-dependent intracellular localization.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 14, p. 1689, doi. 10.1093/hmg/ddg181

By:

Bardoni, Barbara;
Castets, Marie;
Huot, Marc-Etienne;
Schenck, Annette;
Adinolfi, Salvatore;
Corbin, François;
Pastore, Annalisa;
Khandjian, Edouard W.;
Mandel, Jean-Louis

Publication type:

Article

Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 14, p. 1713, doi. 10.1093/hmg/ddg179

By:

Previtali, Stefano C.;
Zerega, Barbara;
Sherman, Diane L.;
Brophy, Peter J.;
Dina, Giorgia;
King, Rosalind H.M.;
Salih, Mustafa M.;
Feltri, Laura;
Quattrini, Angelo;
Ravazzolo, Roberto;
Wrabetz, Lawrence;
Monaco, Anthony P.;
Bolino, Alessandra

Publication type:

Article

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 14, p. 1725, doi. 10.1093/hmg/ddg180

By:

Lettice, Laura A.;
Heaney, Simon J.H.;
Purdie, Lorna A.;
Li, Li;
de Beer, Philippe;
Oostra, Ben A.;
Goode, Debbie;
Elgar, Greg;
Hill, Robert E.;
de Graaff, Esther

Publication type:

Article

Upregulation of the transcription factor TFEB in t(6;11)(p21;q13)-positive renal cell carcinomas due to promoter substitution.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 14, p. 1661, doi. 10.1093/hmg/ddg178

By:

Kuiper, Roland P.;
Schepens, Marga;
Thijssen, José;
van Asseldonk, Martien;
van den Berg, Eva;
Bridge, Julia;
Schuuring, Ed;
Schoenmakers, Eric F.P.M.;
van Kessel, Ad Geurts

Publication type:

Article

Cell cycle-dependent translation of p27 involves a responsive element in its 5′-UTR that overlaps with a uORF.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 14, p. 1767, doi. 10.1093/hmg/ddg177

By:

Göpfert, Ulrich;
Kullmann, Michael;
Hengst, Ludger

Publication type:

Article

Association of 5′ estrogen receptor alpha gene polymorphisms with bone mineral density, vertebral bone area and fracture risk.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 14, p. 1745, doi. 10.1093/hmg/ddg176

By:

van Meurs, Joyce B.J.;
Schuit, Stephanie C.E.;
Weel, Angélique E.A.M.;
van der Klift, Marjolein;
Bergink, Arjan P.;
Arp, Pascal P.;
Colin, Edgar M.;
Fang, Yue;
Hofman, Albert;
van Duijn, Cornelia M.;
van Leeuwen, Johannes P.T.M.;
Pols, Huibert A.P.;
Uitterlinden, André G.

Publication type:

Article

Association and linkage analyses of RGS4 polymorphisms in schizophrenia.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 14, p. 1781, doi. 10.1093/hmg/ddg171

By:

Chowdari, Kodavali V.;
Mirnics, Karoly;
Semwal, Prachi;
Wood, Joel;
Lawrence, Elizabeth;
Bhatia, Triptish;
Deshpande, Smita N.;
Thelma, B.K.;
Ferrell, Robert E.;
Middleton, Frank A.;
Devlin, Bernie;
Levitt, Pat;
Lewis, David A.;
Nimgaonkar, Vishwajit L.

Publication type:

Article