Works matching IS 09646906 AND DT 2005 AND VI 14 AND IP 22

Results: 19

Two single-nucleotide polymorphisms in the human vitamin D receptor promoter change protein–DNA complex formation and are associated with height and vitamin D status in adolescent girls.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 22, p. 3539

By:

d'Alésio, Arnold;
Garabédian, Michèle;
Sabatier, Jean Pierre;
Guaydier-Souquières, Geneviève;
Marcelli, Christian;
Lemaçon, Audrey;
Walrant-Debray, Odile;
Jehan, Frédéric

Publication type:

Article

Abnormal development of the apical ectodermal ridge and polysyndactyly in Megf7-deficient mice.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 22, p. 3523, doi. 10.1093/hmg/ddi381

By:

Johnson, Eric B.;
Hammer, Robert E.;
Herz, Joachim

Publication type:

Article

Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 22, p. 3507, doi. 10.1093/hmg/ddi380

By:

McCampbell, Alexander;
Truong, David;
Broom, Daniel C.;
Allchorne, Andrew;
Gable, Ken;
Cutler, Roy G.;
Mattson, Mark P.;
Woolf, Clifford J.;
Frosch, Matthew P.;
Harmon, Jeffrey M.;
Dunn, Teresa M.;
Brown, Robert H.

Publication type:

Article

Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 22, p. 3499, doi. 10.1093/hmg/ddi379

By:

Yamazaki, Keiko;
McGovern, Dermot;
Ragoussis, Jiannis;
Paolucci, Marta;
Butler, Helen;
Jewell, Derek;
Cardon, Lon;
Takazoe, Masakazu;
Tanaka, Torao;
Ichimori, Toshiki;
Saito, Susumu;
Sekine, Akihiro;
Iida, Aritoshi;
Takahashi, Atsushi;
Tsunoda, Tatsuhiko;
Lathrop, Mark;
Nakamura, Yusuke

Publication type:

Article

Binding sites for metabolic disease related transcription factors inferred at base pair resolution by chromatin immunoprecipitation and genomic microarrays.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 22, p. 3435, doi. 10.1093/hmg/ddi378

By:

Rada-Iglesias, Alvaro;
Wallerman, Ola;
Koch, Christoph;
Ameur, Adam;
Enroth, Stefan;
Clelland, Gayle;
Wester, Kenneth;
Wilcox, Sarah;
Dovey, Oliver M.;
Ellis, Peter D.;
Wraight, Vicki L.;
James, Keith;
Andrews, Rob;
Langford, Cordelia;
Dhami, Pawandeep;
Carter, Nigel;
Vetrie, David;
Pontén, Fredrik;
Komorowski, Jan;
Dunham, Ian

Publication type:

Article

Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 22, p. 3477, doi. 10.1093/hmg/ddi377

By:

Silvestri, Laura;
Caputo, Viviana;
Bellacchio, Emanuele;
Atorino, Luigia;
Dallapiccola, Bruno;
Valente, Enza Maria;
Casari, Giorgio

Publication type:

Article

Multiple mutations in mouse Chd7 provide models for CHARGE syndrome.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 22, p. 3463, doi. 10.1093/hmg/ddi375

By:

Bosman, Erika A.;
Penn, Andrew C.;
Ambrose, John C.;
Kettleborough, Ross;
Stemple, Derek L.;
Steel, Karen P.

Publication type:

Article

Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 22, p. 3493, doi. 10.1093/hmg/ddi374

By:

Sheridan, Molly B.;
Fong, Peying;
Groman, Joshua D.;
Conrad, Carol;
Flume, Patrick;
Diaz, Ruben;
Harris, Christopher;
Knowles, Michael;
Cutting, Garry R.

Publication type:

Article

Cancer development induced by graded expression of Snail in mice.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 22, p. 3449, doi. 10.1093/hmg/ddi373

By:

Pérez-Mancera, Pedro Antonio;
Pérez-Caro, María;
González-Herrero, Inés;
Flores, Teresa;
Orfao, Alberto;
de Herreros, A. Garcia;
Gutiérrez-Adán, Alfonso;
Pintado, Belén;
Sagrera, Ana;
Sánchez-Martín, Manuel;
Sánchez-García, Isidro

Publication type:

Article

Overexpression of yeast hsp104 reduces polyglutamine aggregation and prolongs survival of a transgenic mouse model of Huntington's disease.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 22, p. 3425, doi. 10.1093/hmg/ddi372

By:

Vacher, Coralie;
Garcia-Oroz, Lourdes;
Rubinsztein, David C.

Publication type:

Article

A Caenorhabditis elegans Parkin mutant with altered solubility couples α-synuclein aggregation to proteotoxic stress.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 22, p. 3407, doi. 10.1093/hmg/ddi371

By:

Springer, Wolfdieter;
Hoppe, Thorsten;
Schmidt, Enrico;
Baumeister, Ralf

Publication type:

Article

Cannabinoid receptor type 2 gene is associated with human osteoporosis.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 22, p. 3389, doi. 10.1093/hmg/ddi370

By:

Karsak, Meliha;
Cohen-Solal, Martine;
Freudenberg, Jan;
Ostertag, Agnes;
Morieux, Caroline;
Kornak, Uwe;
Essig, Julia;
Erxlebe, Edda;
Bab, Itai;
Kubisch, Christian;
de Vernejoul, Marie-Christine;
Zimmer, Andreas

Publication type:

Article

Detecting tissue-specific alternative splicing and disease-associated aberrant splicing of the PTCH gene with exon junction microarrays.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 22, p. 3379, doi. 10.1093/hmg/ddi369

By:

Nagao, Kazuaki;
Togawa, Naoyuki;
Fujii, Katsunori;
Uchikawa, Hideki;
Kohno, Yoichi;
Yamada, Masao;
Miyashita, Toshiyuki

Publication type:

Article

Human microRNA (miR29b) expression controls the amount of branched chain α-ketoacid dehydrogenase complex in a cell.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 22, p. 3371, doi. 10.1093/hmg/ddi368

By:

Mersey, Benjamin D.;
Jin, Peng;
Danner, Dean J.

Publication type:

Article

RNAi-mediated suppression of the mitochondrial iron chaperone, frataxin, in Drosophila.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 22, p. 3397, doi. 10.1093/hmg/ddi367

By:

Anderson, Peter R.;
Kirby, Kim;
Hilliker, Arthur J.;
Phillips, John P.

Publication type:

Article

E-cadherin and vitamin D receptor regulation by SNAIL and ZEB1 in colon cancer: clinicopathological correlations.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 22, p. 3361, doi. 10.1093/hmg/ddi366

By:

Peña, Cristina;
García, José Miguel;
Silva, Javier;
García, Vanesa;
Rodríguez, Rufo;
Alonso, Isabel;
Millán, Isabel;
Salas, Clara;
de Herreros, Antonio García;
Muñoz, Alberto;
Bonilla, Félix

Publication type:

Article

Expression of the homeobox gene Pitx2 in neural crest is required for optic stalk and ocular anterior segment development.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 22, p. 3347, doi. 10.1093/hmg/ddi365

By:

Evans, Amanda L.;
Gage, Philip J.

Publication type:

Article

Development of MPS IVA mouse (Galnstm(hC79S·mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 22, p. 3321, doi. 10.1093/hmg/ddi364

By:

Tomatsu, Shunji;
Gutierrez, Monica;
Nishioka, Tatsuo;
Yamada, Masamichi;
Yamada, Mana;
Tosaka, Yasuhiro;
Grubb, Jeffrey H.;
Montaño, Adriana M.;
Vieira, Matheus B.;
Trandafirescu, Georgeta G.;
Peña, Olga M.;
Yamaguchi, Seiji;
Orii, Koji O.;
Orii, Tadao;
Noguchi, Akihiko;
Laybauer, Leticia

Publication type:

Article

Whole genome linkage scan of recurrent depressive disorder from the depression network study.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 22, p. 3337, doi. 10.1093/hmg/ddi363

By:

McGuffin, Peter;
Knight, Jo;
Breen, Gerome;
Brewster, Shyama;
Boyd, Peter R.;
Craddock, Nick;
Gill, Mike;
Korszun, Ania;
Maier, Wolfgang;
Middleton, Lefkos;
Mors, Ole;
Owen, Michael J.;
Perry, Julia;
Preisig, Martin;
Reich, Theodore;
Rice, John;
Rietschel, Marcella;
Jones, Lisa;
Sham, Pak;
Farmer, Anne E.

Publication type:

Article