Works matching IS 09646906 AND DT 2007 AND VI 16 AND IP 9

Results: 12

A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 9, p. 1030, doi. 10.1093/hmg/ddm048

By:

Perveen, R.;
Favor, J.;
Jamieson, R.V.;
Ray, D.W.;
Black, G.C.M.

Publication type:

Article

MTHFR C677T has differential influence on risk of MSI and MSS colorectal cancer.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 9, p. 1072, doi. 10.1093/hmg/ddm055

By:

Hubner, Richard A.;
Lubbe, Steven;
Chandler, Ian;
Houlston, Richard S.

Publication type:

Article

RCAN1 (DSCR1) increases neuronal susceptibility to oxidative stress: a potential pathogenic process in neurodegeneration.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 9, p. 1039, doi. 10.1093/hmg/ddm049

By:

Porta, Sílvia;
Serra, Selma A.;
Huch, Meritxell;
Valverde, Miguel A.;
Llorens, Franc;
Estivill, Xavier;
Arbonés, Maria L.;
Martí, Eulàlia

Publication type:

Article

Mpp4 is required for proper localization of plasma membrane calcium ATPases and maintenance of calcium homeostasis at the rod photoreceptor synaptic terminals.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 9, p. 1017, doi. 10.1093/hmg/ddm047

By:

Yang, Jun;
Pawlyk, Basil;
Wen, Xiao-Hong;
Adamian, Michael;
Soloviev, Maria;
Michaud, Norman;
Zhao, Yun;
Sandberg, Michael A.;
Makino, Clint L.;
Li, Tiansen

Publication type:

Article

Neurofibromatosis-1 (Nf1) heterozygous brain microglia elaborate paracrine factors that promote Nf1-deficient astrocyte and glioma growth.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 9, p. 1098, doi. 10.1093/hmg/ddm059

By:

Daginakatte, Girish C.;
Gutmann, David H.

Publication type:

Article

Loss of MMP-2 disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growth.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 9, p. 1113, doi. 10.1093/hmg/ddm060

By:

Mosig, Rebecca A.;
Dowling, Oonagh;
DiFeo, Analisa;
Ramirez, Maria Celeste M.;
Parker, Ian C.;
Abe, Etsuko;
Diouri, Janane;
Aqeel, Aida Al;
Wylie, James D.;
Oblander, Samantha A.;
Madri, Joseph;
Bianco, Paolo;
Apte, Suneel S.;
Zaidi, Mone;
Doty, Stephen B.;
Majeska, Robert J.;
Schaffler, Mitchell B.;
Martignetti, John A.

Publication type:

Article

Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 9, p. 1091

By:

López-Martín, José M.;
Salviati, Leonardo;
Trevisson, Eva;
Montini, Giovanni;
DiMauro, Salvatore;
Quinzii, Catarina;
Hirano, Michio;
Rodriguez-Hernandez, Angeles;
Cordero, Mario D.;
Sánchez-Alcázar, José A.;
Santos-Ocaña, Carlos;
Navas, Plácido

Publication type:

Article

Absence of Btn1p in the yeast model for juvenile Batten disease may cause arginine to become toxic to yeast cells.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 9, p. 1007, doi. 10.1093/hmg/ddm046

By:

Vitiello, Seasson Phillips;
Wolfe, Devin M.;
Pearce, David A.

Publication type:

Article

Comparative genomic and functional analyses reveal a novel cis-acting PTEN regulatory element as a highly conserved functional E-box motif deleted in Cowden syndrome.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 9, p. 1058, doi. 10.1093/hmg/ddm053

By:

Pezzolesi, Marcus G.;
Zbuk, Kevin M.;
Waite, Kristin A.;
Eng, Charis

Publication type:

Article

Hsp27 overexpression in the R6/2 mouse model of Huntington's disease: chronic neurodegeneration does not induce Hsp27 activation.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 9, p. 1078, doi. 10.1093/hmg/ddm057

By:

Zourlidou, Alexandra;
Gidalevitz, Tali;
Kristiansen, Mark;
Landles, Christian;
Woodman, Ben;
Wells, Dominic J.;
Latchman, David S.;
de Belleroche, Jackie;
Tabrizi, Sarah J.;
Morimoto, Richard I.;
Bates, Gillian P.

Publication type:

Article

Single nucleotide polymorphism associated with mature miR-125a alters the processing of pri-miRNA.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 9, p. 1124, doi. 10.1093/hmg/ddm062

By:

Duan, Ranhui;
Pak, ChangHui;
Jin, Peng

Publication type:

Article

Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 9, p. 1051, doi. 10.1093/hmg/ddm050

By:

Johnson, Nichola;
Fletcher, Olivia;
Palles, Claire;
Rudd, Matthew;
Webb, Emily;
Sellick, Gabrielle;
dos Santos Silva, Isabel;
McCormack, Valerie;
Gibson, Lorna;
Fraser, Agnes;
Leonard, Angela;
Gilham, Clare;
Tavtigian, Sean V.;
Ashworth, Alan;
Houlston, Richard;
Peto, Julian

Publication type:

Article