Works matching IS 09646906 AND DT 2007 AND VI 16 AND IP 12

Results: 12

Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 12, p. 1469, doi. 10.1093/hmg/ddm097

By:

Huentelman, Matthew J.;
Papassotiropoulos, Andreas;
Craig, David W.;
Hoerndli, Frederic J.;
Pearson, John V.;
Huynh, Kim-Dung;
Corneveaux, Jason;
Hänggi, Jürgen;
Mondadori, Christian R.A.;
Buchmann, Andreas;
Reiman, Eric M.;
Henke, Katharina;
de Quervain, Dominique J.-F.;
Stephan, Dietrich A.

Publication type:

Article

Ectopic sonic hedgehog signaling impairs telencephalic dorsal midline development: implication for human holoprosencephaly.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 12, p. 1454, doi. 10.1093/hmg/ddm096

By:

Huang, Xi;
Litingtung, Ying;
Chiang, Chin

Publication type:

Article

Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 12, p. 1478, doi. 10.1093/hmg/ddm098

By:

Vrouwe, Mischa G.;
Elghalbzouri-Maghrani, Elhaam;
Meijers, Matty;
Schouten, Peter;
Godthelp, Barbara C.;
Bhuiyan, Zahurul A.;
Redeker, Egbert J.;
Mannens, Marcel M.;
Mullenders, Leon H.F.;
Pastink, Albert;
Darroudi, Firouz

Publication type:

Article

Severe mental retardation with breathing abnormalities (Pitt–Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 12, p. 1488, doi. 10.1093/hmg/ddm099

By:

Brockschmidt, Antje;
Todt, Unda;
Ryu, Soojin;
Hoischen, Alexander;
Landwehr, Christina;
Birnbaum, Stefanie;
Frenck, Wilhelm;
Radlwimmer, Bernhard;
Lichter, Peter;
Engels, Hartmut;
Driever, Wolfgang;
Kubisch, Christian;
Weber, Ruthild G.

Publication type:

Article

Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 12, p. 1400, doi. 10.1093/hmg/ddm090

By:

Ashley, Neil;
Adams, Susan;
Slama, Abdelhamid;
Zeviani, Massimo;
Suomalainen, Anu;
Andreu, Antonio L.;
Naviaux, Robert K.;
Poulton, Joanna

Publication type:

Article

Tagging SNP haplotype analysis of the secretory PLA2-V gene, PLA2G5, shows strong association with LDL and oxLDL levels, suggesting functional distinction from sPLA2-IIA: results from the UDACS study.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 12, p. 1437, doi. 10.1093/hmg/ddm094

By:

Wootton, Peter T.E.;
Arora, Nupur L.;
Drenos, Fotios;
Thompson, Simon R.;
Cooper, Jackie A.;
Stephens, Jeffrey W.;
Hurel, Steven J.;
Hurt-Camejo, Eva;
Wiklund, Olov;
Humphries, Steve E.;
Talmud, Philippa J.

Publication type:

Article

A new role for angiogenin in neurite growth and pathfinding: implications for amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 12, p. 1445, doi. 10.1093/hmg/ddm095

By:

Subramanian, Vasanta;
Feng, Ying

Publication type:

Article

Neural crest-specific removal of Zfhx1b in mouse leads to a wide range of neurocristopathies reminiscent of Mowat–Wilson syndrome.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 12, p. 1423, doi. 10.1093/hmg/ddm093

By:

Van de Putte, Tom;
Francis, Annick;
Nelles, Luc;
van Grunsven, Leo A.;
Huylebroeck, Danny

Publication type:

Article

Functional polymorphism in ABCA1 influences age of symptom onset in coronary artery disease patients.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 12, p. 1412, doi. 10.1093/hmg/ddm091

By:

Kyriakou, Theodosios;
Pontefract, David E.;
Viturro, Enrique;
Hodgkinson, Conrad P.;
Laxton, Ross C.;
Bogari, Neda;
Cooper, George;
Davies, Michael;
Giblett, Joel;
Day, Ian N.M.;
Simpson, Iain A.;
Albrecht, Christiane;
Ye, Shu

Publication type:

Article

Autophagy in Niemann–Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 12, p. 1495, doi. 10.1093/hmg/ddm100

By:

Pacheco, Chris D.;
Kunkel, Robin;
Lieberman, Andrew P.

Publication type:

Article

The mouse acrodermatitis enteropathica gene Slc39a4 (Zip4) is essential for early development and heterozygosity causes hypersensitivity to zinc deficiency.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 12, p. 1391, doi. 10.1093/hmg/ddm088

By:

Dufner-Beattie, Jodi;
Weaver, Benjamin P.;
Geiser, Jim;
Bilgen, Mehmet;
Larson, Melissa;
Xu, Wenhao;
Andrews, Glen K.

Publication type:

Article

Genetic determinants of mitochondrial content.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 12, p. 1504, doi. 10.1093/hmg/ddm101

By:

Curran, Joanne E.;
Johnson, Matthew P.;
Dyer, Thomas D.;
Göring, Harald H.H.;
Kent, Jack W.;
Charlesworth, Jac C.;
Borg, Anthony J.;
Jowett, Jeremy B.M.;
Cole, Shelley A.;
MacCluer, Jean W.;
Kissebah, Ahmed H.;
Moses, Eric K.;
Blangero, John

Publication type:

Article