Works matching IS 09646906 AND DT 2005 AND VI 14 AND IP 17

Results: 13

USF1 and dyslipidemias: converging evidence for a functional intronic variant.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 17, p. 2595, doi. 10.1093/hmg/ddi294

By:

Naukkarinen, Jussi;
Gentile, Massimiliano;
Soro-Paavonen, Aino;
Saarela, Janna;
Koistinen, Heikki A.;
Pajukanta, Päivi;
Taskinen, Marja-Riitta;
Peltonen, Leena

Publication type:

Article

Mitochondrial DNA segregation in hematopoietic lineages does not depend on MHC presentation of mitochondrially encoded peptides.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 17, p. 2587, doi. 10.1093/hmg/ddi293

By:

Battersby, Brendan J.;
Redpath, Margaret E.;
Shoubridge, Eric A.

Publication type:

Article

Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 17, p. 2571, doi. 10.1093/hmg/ddi292

By:

Sriram, Sathya R.;
Li, Xiaojie;
Ko, Han Seok;
Chung, Kenny K.K.;
Wong, Esther;
Lim, Kah Leong;
Dawson, Valina L.;
Dawson, Ted M.

Publication type:

Article

ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 17, p. 2559, doi. 10.1093/hmg/ddi259

By:

Chen, Ying;
Bellamy, William P.;
Seabra, Miguel C.;
Field, Mark C.;
Ali, Bassam R.

Publication type:

Article

Rhodopsin maturation defects induce photoreceptor death by apoptosis: a fly model for Rhodopsin<sup>Pro23His</sup> human retinitis pigmentosa.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 17, p. 2547, doi. 10.1093/hmg/ddi258

By:

Galy, Anne;
Roux, Michel Joseph;
Sahel, José Alain;
Léveillard, Thierry;
Giangrande, Angela

Publication type:

Article

Analysis of intronic conserved elements indicates that functional complexity might represent a major source of negative selection on non-coding sequences.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 17, p. 2533, doi. 10.1093/hmg/ddi257

By:

Sironi, Manuela;
Menozzi, Giorgia;
Comi, Giacomo P.;
Cagliani, Rachele;
Bresolin, Nereo;
Pozzoli, Uberto

Publication type:

Article

CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 17, p. 2521, doi. 10.1093/hmg/ddi256

By:

Zawistowski, Jon S.;
Stalheim, Lisa;
Uhlik, Mark T.;
Abell, Amy N.;
Ancrile, Brooke B.;
Johnson, Gary L.;
Marchuk, Douglas A.

Publication type:

Article

Neuron-specific relaxation of Igf2r imprinting is associated with neuron-specific histone modifications and lack of its antisense transcript Air.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 17, p. 2511, doi. 10.1093/hmg/ddi255

By:

Yamasaki, Yoko;
Kayashima, Tomohiko;
Soejima, Hidenobu;
Kinoshita, Akira;
Yoshiura, Ko-ichiro;
Matsumoto, Naomichi;
Ohta, Tohru;
Urano, Takeshi;
Masuzaki, Hideaki;
Ishimaru, Tadayuki;
Mukai, Tsunehiro;
Niikawa, Norio;
Kishino, Tatsuya

Publication type:

Article

A dinucleotide deletion in the ankyrin promoter alters gene expression, transcription initiation and TFIID complex formation in hereditary spherocytosis.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 17, p. 2501, doi. 10.1093/hmg/ddi254

By:

Gallagher, Patrick G.;
Nilson, Douglas G.;
Wong, Clara;
Weisbein, Jessica L.;
Garrett-Beal, Lisa J.;
Eber, Stephan W.;
Bodine, David M.

Publication type:

Article

Interpreting gene-association studies.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 17, p. 2489, doi. 10.1093/hmg/ddi253

By:

Farrall, Martin

Publication type:

Article

Guidelines for conducting and reporting whole genome/large-scale association studies.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 17, p. 2485, doi. 10.1093/hmg/ddi252

By:

Ehm, Margaret G.;
Nelson, Matthew R.;
Spurr, Nigel K.

Publication type:

Article

Guidelines for association studies in Human Molecular Genetics.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 17, p. 2481, doi. 10.1093/hmg/ddi251

By:

Freimer, Nelson B.;
Sabatti, Chiara

Publication type:

Article

Sacred disease secrets revealed: the genetics of human epilepsy.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 17, p. 2491, doi. 10.1093/hmg/ddi250

By:

Turnbull, Julie;
Lohi, Hannes;
Kearney, Jennifer A.;
Rouleau, Guy A.;
Delgado-Escueta, Antonio V.;
Meisler, Miriam H.;
Cossette, Patrick;
Minassian, Berge A.

Publication type:

Article