Works matching IS 09646906 AND DT 2005 AND VI 14 AND IP 3

Results: 12

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 3, p. 461, doi. 10.1093/hmg/ddi044

By:

Fonknechten, Nùria;
Mavel, Delphine;
Byrne, Paula;
Davoine, Claire-Sophie;
Cruaud, Corinne;
Bönsch, Dominikus;
Samson, Delphine;
Coutinho, Paula;
Hutchinson, Michael;
McMonagle, Paul;
Burgunder, Jean-Marc;
Tartaglione, Antonio;
Heinzlef, Olivier;
Feki, Imed;
Deufel, Thomas;
Parfrey, Nollaig;
Brice, Alexis;
Fontaine, Bertrand;
Prud'homme, Jean-François;
Weissenbach, Jean

Publication type:

Article

Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 3, p. 401, doi. 10.1093/hmg/ddi036

By:

Delprat, Benjamin;
Michel, Vincent;
Goodyear, Richard;
Yamasaki, Yasuhiro;
Michalski, Nicolas;
El-Amraoui, Aziz;
Perfettini, Isabelle;
Legrain, Pierre;
Richardson, Guy;
Hardelin, Jean-Pierre;
Petit, Christine

Publication type:

Article

Elevated amyloid β protein (Aβ42) and late onset Alzheimer's disease are associated with single nucleotide polymorphisms in the urokinase-type plasminogen activator gene.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 3, p. 447, doi. 10.1093/hmg/ddi041

By:

Ertekin-Taner, Nilüfer;
Ronald, James;
Feuk, Lars;
Prince, Jonathan;
Tucker, Michael;
Younkin, Linda;
Hella, Maria;
Jain, Shushant;
Hackett, Alyssa;
Scanlin, Leah;
Kelly, Jason;
Kihiko-Ehman, Muthoni;
Neltner, Matthew;
Hersh, Louis;
Kindy, Mark;
Markesbery, William;
Hutton, Michael;
Andrade, Mariza de;
Petersen, Ronald C.;
Graff-Radford, Neill

Publication type:

Article

A mouse model of cardiac rhabdomyoma generated by loss of Tsc1 in ventricular myocytes.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 3, p. 429, doi. 10.1093/hmg/ddi039

By:

Meikle, Lynsey;
McMullen, Julie R.;
Sherwood, Megan C.;
Lader, Alan S.;
Walker, Victoria;
Chan, Jennifer A.;
Kwiatkowski, David J.

Publication type:

Article

Relationship between gene expression and GC-content in mammals: statistical significance and biological relevance.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 3, p. 421, doi. 10.1093/hmg/ddi038

By:

Sémon, Marie;
Mouchiroud, Dominique;
Duret, Laurent

Publication type:

Article

In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 3, p. 411, doi. 10.1093/hmg/ddi037

By:

Brown, Lucia;
Paraso, Melinda;
Arkell, Ruth;
Brown, Stephen

Publication type:

Article

MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-β signaling.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 3, p. 437, doi. 10.1093/hmg/ddi040

By:

Lin, Feng;
Morrison, Juliet M.;
Wu, Wei;
Worman, Howard J.

Publication type:

Article

Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 3, p. 391, doi. 10.1093/hmg/ddi035

By:

Kikkawa, Yoshiaki;
Mburu, Philomena;
Morse, Sue;
Kominami, Ryo;
Townsend, Stuart;
Brown, Steve D.M.

Publication type:

Article

The cerebellar transcriptome during postnatal development of the Ts1Cje mouse, a segmental trisomy model for Down syndrome.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 3, p. 373, doi. 10.1093/hmg/ddi033

By:

Dauphinot, L.;
Lyle, R.;
Rivals, I.;
Dang, M. Tran;
Moldrich, R.X.;
Golfier, G.;
Ettwiller, L.;
Toyama, K.;
Rossier, J.;
Personnaz, L.;
Antonarakis, S.E.;
Epstein, C.J.;
Sinet, P.-M.;
Potier, M.-C.

Publication type:

Article

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 3, p. 385, doi. 10.1093/hmg/ddi034

By:

Benet-Pagès, Anna;
Orlik, Peter;
Strom, Tim M.;
Lorenz-Depiereux, Bettina

Publication type:

Article

Inactivation of Drosophila Apaf-1 related killer suppresses formation of polyglutamine aggregates and blocks polyglutamine pathogenesis.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 3, p. 357, doi. 10.1093/hmg/ddi032

By:

Sang, Tzu-Kang;
Li, Chenjian;
Liu, Wencheng;
Rodriguez, Antony;
Abrams, John M.;
Zipursky, S. Lawrence;
Jackson, George R.

Publication type:

Article

Interactions in the network of Usher syndrome type 1 proteins.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 3, p. 347, doi. 10.1093/hmg/ddi031

By:

Adato, Avital;
Michel, Vincent;
Kikkawa, Yoshiaki;
Reiners, Jan;
Alagramam, Kumar N.;
Weil, Dominique;
Yonekawa, Hiromichi;
Wolfrum, Uwe;
El-Amraoui, Aziz;
Petit, Christine

Publication type:

Article