Works matching IS 09646906 AND DT 2005 AND VI 14 AND IP 13

Results: 18

Species specific membrane anchoring of nyctalopin, a small leucine-rich repeat protein.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 13, p. 1877, doi. 10.1093/hmg/ddi194

By:

O'Connor, Elizabeth;
Eisenhaber, Birgit;
Dalley, Jane;
Wang, Tao;
Missen, Caroline;
Bulleid, Neil;
Bishop, Paul N.;
Trump, Dorothy

Publication type:

Article

SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dog.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 13, p. 1905, doi. 10.1093/hmg/ddi201

By:

Pelé, Manuel;
Tiret, Laurent;
Kessler, Jean-Louis;
Blot, Stéphane;
Panthier, Jean-Jacques

Publication type:

Article

Interaction of presenilins with FKBP38 promotes apoptosis by reducing mitochondrial Bcl-2.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 13, p. 1889, doi. 10.1093/hmg/ddi195

By:

Wang, Hua-Qin;
Nakaya, Yoshifumi;
Du, Zhenyu;
Yamane, Takuya;
Shirane, Michiko;
Kudo, Takashi;
Takeda, Masatoshi;
Takebayashi, Koichi;
Noda, Yoichi;
Nakayama, Keiichi I.;
Nishimura, Masaki

Publication type:

Article

Regulation of odorant receptors: one allele at a time.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 13, p. 1903, doi. 10.1093/hmg/ddi193

By:

Shykind, Benjamin M.

Publication type:

Article

Gene expression in Huntington's disease skeletal muscle: a potential biomarker.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 13, p. 1863, doi. 10.1093/hmg/ddi192

By:

Strand, Andrew D.;
Aragaki, Aaron K.;
Shaw, Dennis;
Bird, Thomas;
Holton, Janice;
Turner, Christopher;
Tapscott, Stephen J.;
Tabrizi, Sarah J.;
Schapira, Anthony H.;
Kooperberg, Charles;
Olson, James M.

Publication type:

Article

Reduced proportion of Purkinje cells expressing paternally derived mutant Mecp2<sup>308</sup> allele in female mouse cerebellum is not due to a skewed primary pattern of X-chromosome inactivation.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 13, p. 1851, doi. 10.1093/hmg/ddi191

By:

Watson, Catherine M.;
Pelka, Gregory J.;
Radziewic, Tatiana;
Shahbazian, Mona D.;
Christodoulou, John;
Williamson, Sarah L.;
Tam, Patrick P.L.

Publication type:

Article

A mouse model of tuberous sclerosis 1 showing background specific early post-natal mortality and metastatic renal cell carcinoma.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 13, p. 1839, doi. 10.1093/hmg/ddi190

By:

Wilson, Catherine;
Idziaszczyk, Shelley;
Parry, Lee;
Guy, Carol;
Griffiths, David F.R.;
Lazda, Edward;
Bayne, Rosemary A.L.;
Smith, Andrew J.H.;
Sampson, Julian R.;
Cheadle, Jeremy P.

Publication type:

Article

Treatment with trkC agonist antibodies delays disease progression in neuromuscular degeneration (nmd) mice.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 13, p. 1825, doi. 10.1093/hmg/ddi189

By:

Ruiz, Rocio;
Lin, John;
Forgie, Alison;
Foletti, Davide;
Shelton, David;
Rosenthal, Arnon;
Tabares, Lucia

Publication type:

Article

Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 13, p. 1815, doi. 10.1093/hmg/ddi188

By:

Bachetti, Tiziana;
Matera, Ivana;
Borghini, Silvia;
Duca, Marco Di;
Ravazzolo, Roberto;
Ceccherini, Isabella

Publication type:

Article

Haplotypes of the WNK1 gene associate with blood pressure variation in a severely hypertensive population from the British Genetics of Hypertension study.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 13, p. 1805, doi. 10.1093/hmg/ddi187

By:

Newhouse, Stephen J.;
Wallace, Chris;
Dobson, Richard;
Mein, Charles;
Pembroke, Janine;
Farrall, Martin;
Clayton, David;
Brown, Morris;
Samani, Nilesh;
Dominiczak, Anna;
Connell, John M.;
Webster, John;
Lathrop, G. Mark;
Caulfield, Mark;
Munroe, Patricia B.

Publication type:

Article

Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 13, p. 1795, doi. 10.1093/hmg/ddi186

By:

Van Esch, Hilde;
Hollanders, Karen;
Badisco, Liesbeth;
Melotte, Cindy;
Van Hummelen, Paul;
Vermeesch, Joris Robert;
Devriendt, Koen;
Fryns, Jean-Pierre;
Marynen, Peter;
Froyen, Guy

Publication type:

Article

Activation of the ALT pathway for telomere maintenance can affect other sequences in the human genome.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 13, p. 1785, doi. 10.1093/hmg/ddi185

By:

Jeyapalan, Jennie N.;
Varley, Helen;
Foxon, Jenny L.;
Pollock, Raphael E.;
Jeffreys, Alec J.;
Henson, Jeremy D.;
Reddel, Roger R.;
Royle, Nicola J.

Publication type:

Article

Mitochondrial DNA polymerase gamma is essential for mammalian embryogenesis.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 13, p. 1775, doi. 10.1093/hmg/ddi184

By:

Hance, Nicole;
Ekstrand, Mats I.;
Trifunovic, Aleksandra

Publication type:

Article

Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 13, p. 1763, doi. 10.1093/hmg/ddi183

By:

Gorgels, Theo G.M.F.;
Hu, Xiaofeng;
Scheffer, George L.;
van der Wal, Allard C.;
Toonstra, Johan;
de Jong, Paulus T.V.M.;
van Kuppevelt, Toin H.;
Levelt, Christiaan N.;
de Wolf, Anneke;
Loves, Willem J.P.;
Scheper, Rik J.;
Peek, Ron;
Bergen, Arthur A.B.

Publication type:

Article

Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 13, p. 1753, doi. 10.1093/hmg/ddi182

By:

Cruts, Marc;
Rademakers, Rosa;
Gijselinck, Ilse;
van der Zee, Julie;
Dermaut, Bart;
de Pooter, Tim;
de Rijk, Peter;
Del-Favero, Jurgen;
van Broeckhoven, Christine

Publication type:

Article

A novel functional VKORC1 promoter polymorphism is associated with inter-individual and inter-ethnic differences in warfarin sensitivity.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 13, p. 1745, doi. 10.1093/hmg/ddi180

By:

Yuan, Hsiang-Yu;
Chen, Jin-Jer;
Lee, M.T. Michael;
Wung, Ju-Chieh;
Chen, Ying-Fu;
Charng, Min-Ji;
Lu, Ming-Jen;
Hung, Chi-Ren;
Wei, Chun-Yu;
Chen, Chien-Hsiun;
Wu, Jer-Yuarn;
Chen, Yuan-Tsong

Publication type:

Article

Zebrafish as a model for caveolin-associated muscle disease; caveolin-3 is required for myofibril organization and muscle cell patterning.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 13, p. 1727, doi. 10.1093/hmg/ddi179

By:

Nixon, Susan J.;
Wegner, Jeremy;
Ferguson, Charles;
Méry, Pierre-François;
Hancock, John F.;
Currie, Peter D.;
Key, Brian;
Westerfield, Monte;
Parton, Robert G.

Publication type:

Article

Cell type-specific gene expression of midbrain dopaminergic neurons reveals molecules involved in their vulnerability and protection.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 13, p. 1709, doi. 10.1093/hmg/ddi178

By:

Chung, Chee Yeun;
Seo, Hyemyung;
Sonntag, Kai Christian;
Brooks, Andrew;
Lin, Ling;
Isacson, Ole

Publication type:

Article