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
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
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
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