Works matching IS 09646906 AND DT 2007 AND VI 16 AND IP 6

Results: 12

Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 6, p. 609, doi. 10.1093/hmg/ddm001

By:

Shepard, Allan R.;
Jacobson, Nasreen;
Millar, J. Cameron;
Pang, Iok-Hou;
Steely, H. Thomas;
Searby, Charles C.;
Sheffield, Val C.;
Stone, Edwin M.;
Clark, Abbot F.

Publication type:

Article

The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 6, p. 600, doi. 10.1093/hmg/ddl487

By:

Mekel-Bobrov, Nitzan;
Posthuma, Danielle;
Gilbert, Sandra L.;
Lind, Penelope;
Gosso, M. Florencia;
Luciano, Michelle;
Harris, Sarah E.;
Bates, Timothy C.;
Polderman, Tinca J.C.;
Whalley, Lawrence J.;
Fox, Helen;
Starr, John M.;
Evans, Patrick D.;
Montgomery, Grant W.;
Fernandes, Croydon;
Heutink, Peter;
Martin, Nicholas G.;
Boomsma, Dorret I.;
Deary, Ian J.;
Wright, Margaret J.

Publication type:

Article

Two endoplasmic reticulum-associated degradation (ERAD) systems for the novel variant of the mutant dysferlin: ubiquitin/proteasome ERAD(I) and autophagy/lysosome ERAD(II).

Published in:

Human Molecular Genetics, 2007, v. 16, n. 6, p. 618, doi. 10.1093/hmg/ddm002

By:

Fujita, Eriko;
Kouroku, Yoriko;
Isoai, Atsushi;
Kumagai, Hiromichi;
Misutani, Akifumi;
Matsuda, Chie;
Hayashi, Yukiko K.;
Momoi, Takashi

Publication type:

Article

FXYD1 is an MeCP2 target gene overexpressed in the brains of Rett syndrome patients and Mecp2-null mice.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 6, p. 640, doi. 10.1093/hmg/ddm007

By:

Deng, Vivianne;
Matagne, Valerie;
Banine, Fatima;
Frerking, Matthew;
Ohliger, Patricia;
Budden, Sarojini;
Pevsner, Jonathan;
Dissen, Gregory A.;
Sherman, Larry S.;
Ojeda, Sergio R.

Publication type:

Article

Functional SNP in an Sp1-binding site of AGTRL1 gene is associated with susceptibility to brain infarction.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 6, p. 630, doi. 10.1093/hmg/ddm005

By:

Hata, Jun;
Matsuda, Koichi;
Ninomiya, Toshiharu;
Yonemoto, Koji;
Matsushita, Tomonaga;
Ohnishi, Yozo;
Saito, Susumu;
Kitazono, Takanari;
Ibayashi, Setsuro;
Iida, Mitsuo;
Kiyohara, Yutaka;
Nakamura, Yusuke;
Kubo, Michiaki

Publication type:

Article

15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 6, p. 691, doi. 10.1093/hmg/ddm014

By:

Hogart, Amber;
Nagarajan, Raman P.;
Patzel, Katherine A.;
Yasui, Dag H.;
LaSalle, Janine M.

Publication type:

Article

A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 6, p. 667, doi. 10.1093/hmg/ddm009

By:

Anthoni, Heidi;
Zucchelli, Marco;
Matsson, Hans;
Müller-Myhsok, Bertram;
Fransson, Ingegerd;
Schumacher, Johannes;
Massinen, Satu;
Onkamo, Päivi;
Warnke, Andreas;
Griesemann, Heide;
Hoffmann, Per;
Nopola-Hemmi, Jaana;
Lyytinen, Heikki;
Schulte-Körne, Gerd;
Kere, Juha;
Nöthen, Markus M.;
Peyrard-Janvid, Myriam

Publication type:

Article

Association of IRF5 in UK SLE families identifies a variant involved in polyadenylation.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 6, p. 579, doi. 10.1093/hmg/ddl469

By:

Graham, Deborah S. Cunninghame;
Manku, Harinder;
Wagner, Susanne;
Reid, Julia;
Timms, Kirsten;
Gutin, Alexander;
Lanchbury, Jerry S.;
Vyse, Tim J.

Publication type:

Article

Over-expression of alpha-synuclein in human neural progenitors leads to specific changes in fate and differentiation.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 6, p. 651, doi. 10.1093/hmg/ddm008

By:

Schneider, Bernard L.;
Seehus, Corey R.;
Capowski, Elizabeth E.;
Aebischer, Patrick;
Zhang, Su-Chun;
Svendsen, Clive N.

Publication type:

Article

Polymorphisms in pro- and anti-inflammatory cytokine genes and susceptibility to atherosclerosis: a pathological study of 1503 consecutive autopsy cases.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 6, p. 592, doi. 10.1093/hmg/ddl483

By:

Oda, Kanae;
Tanaka, Noriko;
Arai, Tomio;
Araki, Jungo;
Song, Yixuan;
Zhang, Ling;
Kuchiba, Aya;
Hosoi, Takayuki;
Shirasawa, Takuji;
Muramatsu, Masaaki;
Sawabe, Motoji

Publication type:

Article

Leucine-rich repeat kinase 2 associates with lipid rafts.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 6, p. 678, doi. 10.1093/hmg/ddm013

By:

Hatano, Taku;
Kubo, Shin-ichiro;
Imai, Satoshi;
Maeda, Masahiro;
Ishikawa, Kiyoshi;
Mizuno, Yoshikuni;
Hattori, Nobutaka

Publication type:

Article

High density SNP association study of a major autism linkage region on chromosome 17.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 6, p. 704, doi. 10.1093/hmg/ddm015

By:

Stone, Jennifer L.;
Merriman, Barry;
Cantor, Rita M.;
Geschwind, Daniel H.;
Nelson, Stanley F.

Publication type:

Article