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
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
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
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
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
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