Works matching IS 09646906 AND DT 2008 AND VI 17 AND IP 4

Results: 14

KH-type splicing regulatory protein interacts with survival motor neuron protein and is misregulated in spinal muscular atrophy.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 4, p. 506
By:
- Tadesse, Helina;
- Deschênes-Furry, Julie;
- Boisvenue, Sophie;
- Côté, Jocelyn
Publication type:
Article
Zebrafish model of holoprosencephaly demonstrates a key role for TGIF in regulating retinoic acid metabolism.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 4, p. 525, doi. 10.1093/hmg/ddm328
By:
- Gongal, Patricia A.;
- Waskiewicz, Andrew J.
Publication type:
Article
FOXC1 is required for cell viability and resistance to oxidative stress in the eye through the transcriptional regulation of FOXO1A.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 4, p. 490, doi. 10.1093/hmg/ddm326
By:
- Berry, Fred B.;
- Skarie, Jonathan M.;
- Mirzayans, Farideh;
- Fortin, Yannick;
- Hudson, Thomas J.;
- Raymond, Vincent;
- Link, Brian A.;
- Walter, Michael A.
Publication type:
Article
Common variation in the ABO glycosyltransferase is associated with susceptibility to severe Plasmodium falciparum malaria.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 4, p. 567, doi. 10.1093/hmg/ddm331
By:
- Fry, Andrew E.;
- Griffiths, Michael J.;
- Auburn, Sarah;
- Diakite, Mahamadou;
- Forton, Julian T.;
- Green, Angela;
- Richardson, Anna;
- Wilson, Jonathan;
- Jallow, Muminatou;
- Sisay-Joof, Fatou;
- Pinder, Margaret;
- Peshu, Norbert;
- Williams, Thomas N.;
- Marsh, Kevin;
- Molyneux, Malcolm E.;
- Taylor, Terrie E.;
- Rockett, Kirk A.;
- Kwiatkowski, Dominic P.
Publication type:
Article
Recombination rates of genes expressed in human tissues.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 4, p. 577, doi. 10.1093/hmg/ddm332
By:
- Kato, Mamoru;
- Miya, Fuyuki;
- Kanemura, Yonehiro;
- Tanaka, Toshihiro;
- Nakamura, Yusuke;
- Tsunoda, Tatsuhiko
Publication type:
Article
Strong evidence that GNB1L is associated with schizophrenia.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 4, p. 555, doi. 10.1093/hmg/ddm330
By:
- Williams, Nigel M.;
- Glaser, Beate;
- Norton, Nadine;
- Williams, Hywel;
- Pierce, Timothy;
- Moskvina, Valentina;
- Monks, Stephen;
- Del Favero, Jurgen;
- Goossens, Dirk;
- Rujescu, Dan;
- Giegling, Ina;
- Kirov, George;
- Craddock, Nicholas;
- Murphy, Kieran C.;
- O'Donovan, Michael C.;
- Owen, Michael J.
Publication type:
Article
Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 4, p. 639
By:
- Sebban-Benin, Hélène;
- Pescatore, Alessandra;
- Fusco, Francesca;
- Pascuale, Valérie;
- Gautheron, Jérémie;
- Yamaoka, Shoji;
- Moncla, Anne;
- Ursini, Matilde Valeria;
- Courtois, Gilles
Publication type:
Article
Pink1 Parkinson mutations, the Cdc37/Hsp90 chaperones and Parkin all influence the maturation or subcellular distribution of Pink1.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 4, p. 602, doi. 10.1093/hmg/ddm334
By:
- Weihofen, Andreas;
- Ostaszewski, Beth;
- Minami, Yasufumi;
- Selkoe, Dennis J.
Publication type:
Article
Mouse Fkbp8 activity is required to inhibit cell death and establish dorso-ventral patterning in the posterior neural tube.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 4, p. 587, doi. 10.1093/hmg/ddm333
By:
- Wong, Rebecca Lee Yean;
- Wlodarczyk, Bogdan J.;
- Min, Kyung Soo;
- Scott, Melissa L.;
- Kartiko, Susan;
- Yu, Wei;
- Merriweather, Michelle Y.;
- Vogel, Peter;
- Zambrowicz, Brian P.;
- Finnell, Richard H.
Publication type:
Article
The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 4, p. 539, doi. 10.1093/hmg/ddm329
By:
- Dobrowolski, Radoslaw;
- Sasse, Philipp;
- Schrickel, Jan W.;
- Watkins, Marcus;
- Kim, Jung-Sun;
- Rackauskas, Mindaugas;
- Troatz, Clemens;
- Ghanem, Alexander;
- Tiemann, Klaus;
- Degen, Joachim;
- Bukauskas, Feliksas F.;
- Civitelli, Roberto;
- Lewalter, Thorsten;
- Fleischmann, Bernd K.;
- Willecke, Klaus
Publication type:
Article
Recurrent 16p11.2 microdeletions in autism.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 4, p. 628
By:
- Kumar, Ravinesh A.;
- KaraMohamed, Samer;
- Sudi, Jyotsna;
- Conrad, Donald F.;
- Brune, Camille;
- Badner, Judith A.;
- Gilliam, T. Conrad;
- Nowak, Norma J.;
- Cook, Edwin H.;
- Dobyns, William B.;
- Christian, Susan L.
Publication type:
Article
ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 4, p. 469, doi. 10.1093/hmg/ddm324
By:
- Wei, Hui;
- Kim, Sung-Jo;
- Zhang, Zhongjian;
- Tsai, Pei-Chih;
- Wisniewski, Krystyna E.;
- Mukherjee, Anil B.
Publication type:
Article
High-density association study and nomination of susceptibility genes for hypertension in the Japanese National Project.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 4, p. 617
By:
- Kato, Norihiro;
- Miyata, Toshiyuki;
- Tabara, Yasuharu;
- Katsuya, Tomohiro;
- Yanai, Kazuyuki;
- Hanada, Hironori;
- Kamide, Kei;
- Nakura, Jun;
- Kohara, Katsuhiko;
- Takeuchi, Fumihiko;
- Mano, Hiroyuki;
- Yasunami, Michio;
- Kimura, Akinori;
- Kita, Yoshikuni;
- Ueshima, Hirotsugu;
- Nakayama, Tomohiro;
- Soma, Masayoshi;
- Hata, Akira;
- Fujioka, Akihiro;
- Kawano, Yuhei
Publication type:
Article
The diabetes-linked transcription factor Pax4 is expressed in human pancreatic islets and is activated by mitogens and GLP-1.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 4, p. 478
By:
- Brun, Thierry;
- He, Kai Hui Hu;
- Lupi, Roberto;
- Boehm, Bernhard;
- Wojtusciszyn, Anne;
- Sauter, Nadine;
- Donath, Marc;
- Marchetti, Piero;
- Maedler, Kathrin;
- Gauthier, Benoit R.
Publication type:
Article