Works matching IS 09646906 AND DT 2006 AND VI 15 AND IP 21

Results: 17

Secretin receptor-deficient mice exhibit impaired synaptic plasticity and social behavior.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 21, p. 3241, doi. 10.1093/hmg/ddl402

By:

Nishijima, Ichiko;
Yamagata, Takanori;
Spencer, Corinne M.;
Weeber, Edwin J.;
Alekseyenko, Olga;
Sweatt, J. David;
Momoi, Mariko Y.;
Ito, Masayuki;
Armstrong, Dawna L.;
Nelson, David L.;
Paylor, Richard;
Bradley, Allan

Publication type:

Article

Search for low penetrance alleles for colorectal cancer through a scan of 1467 non-synonymous SNPs in 2575 cases and 2707 controls with validation by kin-cohort analysis of 14 704 first-degree relatives.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 21, p. 3263, doi. 10.1093/hmg/ddl401

By:

Webb, Emily L.;
Rudd, Matthew F.;
Sellick, Gabrielle S.;
El Galta, Rachid;
Bethke, Lara;
Wood, Wendy;
Fletcher, Olivia;
Penegar, Steven;
Withey, Laura;
Qureshi, Mobshra;
Johnson, Nichola;
Tomlinson, Ian;
Gray, Richard;
Peto, Julian;
Houlston, Richard S.

Publication type:

Article

FGF19 is a target for FOXC1 regulation in ciliary body-derived cells.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 21, p. 3229, doi. 10.1093/hmg/ddl400

By:

Tamimi, Yahya;
Skarie, Jonathan M.;
Footz, Tim;
Berry, Fred B.;
Link, Brian A.;
Walter, Michael A.

Publication type:

Article

Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 21, p. 3219, doi. 10.1093/hmg/ddl399

By:

Aggarwal, Vimla S.;
Liao, Jun;
Bondarev, Alexei;
Schimmang, Thomas;
Lewandoski, Mark;
Locker, Joseph;
Shanske, Alan;
Campione, Marina;
Morrow, Bernice E.

Publication type:

Article

C-terminal truncation and Parkinson's disease-associated mutations down-regulate the protein serine/threonine kinase activity of PTEN-induced kinase-1.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 21, p. 3251, doi. 10.1093/hmg/ddl398

By:

Sim, Chou Hung;
Lio, Daisy Sio Seng;
Mok, Su San;
Masters, Colin L.;
Hill, Andrew F.;
Culvenor, Janetta G.;
Cheng, Heung-Chin

Publication type:

Article

A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 21, p. 3272, doi. 10.1093/hmg/ddl397

By:

Urak, Lydia;
Feucht, Martha;
Fathi, Nahid;
Hornik, Kurt;
Fuchs, Karoline

Publication type:

Article

CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 21, p. 3206, doi. 10.1093/hmg/ddl396

By:

Conley, Yvette P.;
Jakobsdottir, Johanna;
Mah, Tammy;
Weeks, Daniel E.;
Klein, Ronald;
Kuller, Lewis;
Ferrell, Robert E.;
Gorin, Michael B.

Publication type:

Article

Evidence for unique association signals in SLE at the CD28–CTLA4–ICOS locus in a family-based study.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 21, p. 3195, doi. 10.1093/hmg/ddl395

By:

Graham, D.S. Cunninghame;
Wong, A.K.;
McHugh, N.J.;
Whittaker, J.C.;
Vyse, Timothy J.

Publication type:

Article

Behavioral abnormalities precede neuropathological markers in rats transgenic for Huntington's disease.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 21, p. 3177, doi. 10.1093/hmg/ddl394

By:

Nguyen, Huu Phuc;
Kobbe, Philipp;
Rahne, Henning;
Wörpel, Till;
Jäger, Burkard;
Stephan, Michael;
Pabst, Reinhard;
Holzmann, Carsten;
Riess, Olaf;
Korr, Hubert;
Kántor, Orsolya;
Petrasch-Parwez, Elisabeth;
Wetzel, Ronald;
Osmand, Alexander;
von Hörsten, Stephan

Publication type:

Article

Cystathionine β-synthase is essential for female reproductive function.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 21, p. 3168, doi. 10.1093/hmg/ddl393

By:

Guzmán, Mario A.;
Navarro, María A.;
Carnicer, Ricardo;
Sarría, Alfonso J.;
Acín, Sergio;
Arnal, Carmen;
Muniesa, Pedro;
Surra, Joaquín C.;
Arbonés-Mainar, José M.;
Maeda, Nobuyo;
Osada, Jesús

Publication type:

Article

Functional genetic analysis of mutations implicated in a human speech and language disorder.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 21, p. 3154, doi. 10.1093/hmg/ddl392

By:

Vernes, Sonja C.;
Nicod, Jérôme;
Elahi, Fanny M.;
Coventry, Julie A.;
Kenny, Niamh;
Coupe, Anne-Marie;
Bird, Louise E.;
Davies, Kay E.;
Fisher, Simon E.

Publication type:

Article

Convergent linkage evidence from two Latin-American population isolates supports the presence of a susceptibility locus for bipolar disorder in 5q31–34.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 21, p. 3146, doi. 10.1093/hmg/ddl254

By:

Herzberg, Ibi;
Jasinska, Anna;
García, Jenny;
Jawaheer, Damini;
Service, Susan;
Kremeyer, Barbara;
Duque, Constanza;
Parra, María V.;
Vega, Jorge;
Ortiz, Daniel;
Carvajal, Luis;
Polanco, Guadalupe;
Restrepo, Gabriel J.;
López, Carlos;
Palacio, Carlos;
Levinson, Matthew;
Aldana, Ileana;
Mathews, Carol;
Davanzo, Pablo;
Molina, Julio

Publication type:

Article

Hypomethylation of MB-COMT promoter is a major risk factor for schizophrenia and bipolar disorder.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 21, p. 3132, doi. 10.1093/hmg/ddl253

By:

Abdolmaleky, Hamid Mostafavi;
Cheng, Kuang-hung;
Faraone, Stephen V.;
Wilcox, Marsha;
Glatt, Stephen J.;
Gao, Fangming;
Smith, Cassandra L.;
Shafa, Rahim;
Aeali, Batol;
Carnevale, Julie;
Pan, Hongjie;
Papageorgis, Panagiotis;
Ponte, Jose F.;
Sivaraman, Vadivelu;
Tsuang, Ming T.;
Thiagalingam, Sam

Publication type:

Article

Cholinergic neuronal defect without cell loss in Huntington's disease.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 21, p. 3119, doi. 10.1093/hmg/ddl252

By:

Smith, Ruben;
Chung, Hinfan;
Rundquist, Sara;
Maat-Schieman, Marion L.C.;
Colgan, Lesley;
Englund, Elisabet;
Liu, Yong-Jian;
Roos, Raymund A.C.;
Faull, Richard L.M.;
Brundin, Patrik;
Li, Jia-Yi

Publication type:

Article

Lentiviral vector expressing retinoic acid receptor β2 promotes recovery of function after corticospinal tract injury in the adult rat spinal cord.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 21, p. 3107, doi. 10.1093/hmg/ddl251

By:

Yip, Ping K.;
Wong, Liang-Fong;
Pattinson, Damian;
Battaglia, Anna;
Grist, John;
Bradbury, Elizabeth J.;
Maden, Malcolm;
McMahon, Stephen B.;
Mazarakis, Nicholas D.

Publication type:

Article

A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 21, p. 3098, doi. 10.1093/hmg/ddl250

By:

Tosch, Valérie;
Rohde, Holger M.;
Tronchère, Hélène;
Zanoteli, Edmar;
Monroy, Nancy;
Kretz, Christine;
Dondaine, Nicolas;
Payrastre, Bernard;
Mandel, Jean-Louis;
Laporte, Jocelyn

Publication type:

Article

Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 21, p. 3083, doi. 10.1093/hmg/ddl249

By:

Oji, Vinzenz;
Hautier, Juliette Mazereeuw;
Ahvazi, Bijan;
Hausser, Ingrid;
Aufenvenne, Karin;
Walker, Tatjana;
Seller, Natalia;
Steijlen, Peter M.;
Küster, Wolfgang;
Hovnanian, Alain;
Hennies, Hans Christian;
Traupe, Heiko

Publication type:

Article