Works matching IS 09646906 AND DT 2009 AND VI 18 AND IP 20

Results: 24

Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 20, p. 3969, doi. 10.1093/hmg/ddp338

By:

Narooie-Nejad, Mehrnaz;
Paylakhi, Seyed Hassan;
Shojaee, Seyedmehdi;
Fazlali, Zeinab;
Rezaei Kanavi, Mozhgan;
Nilforushan, Naveed;
Yazdani, Shahin;
Babrzadeh, Farbod;
Suri, Fatemeh;
Ronaghi, Mostafa;
Elahi, Elahe;
Paisán-Ruiz, Coro

Publication type:

Article

Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in mice.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 20, p. 3914, doi. 10.1093/hmg/ddp334

By:

Suzuki, Go;
Harper, Kathryn M.;
Hiramoto, Takeshi;
Funke, Birgit;
Lee, MoonSook;
Kang, Gina;
Buell, Mahalah;
Geyer, Mark A.;
Kucherlapati, Raju;
Morrow, Bernice;
Männistö, Pekka T.;
Agatsuma, Soh;
Hiroi, Noboru

Publication type:

Article

Parkin protects mitochondrial genome integrity and supports mitochondrial DNA repair.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 20, p. 3832, doi. 10.1093/hmg/ddp327

By:

Rothfuss, Oliver;
Fischer, Heike;
Hasegawa, Takafumi;
Maisel, Martina;
Leitner, Petra;
Miesel, Franziska;
Sharma, Manu;
Bornemann, Antje;
Berg, Daniela;
Gasser, Thomas;
Patenge, Nadja

Publication type:

Article

Association of serum cotinine level with a cluster of three nicotinic acetylcholine receptor genes (CHRNA3/CHRNA5/CHRNB4) on chromosome 15.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 20, p. 4007, doi. 10.1093/hmg/ddp322

By:

Keskitalo, Kaisu;
Broms, Ulla;
Heliövaara, Markku;
Ripatti, Samuli;
Surakka, Ida;
Perola, Markus;
Pitkäniemi, Janne;
Peltonen, Leena;
Aromaa, Arpo;
Kaprio, Jaakko

Publication type:

Article

Neutralization of granulocyte macrophage colony-stimulating factor decreases amyloid beta 1-42 and suppresses microglial activity in a transgenic mouse model of Alzheimer's disease.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 20, p. 3876, doi. 10.1093/hmg/ddp331

By:

Manczak, Maria;
Mao, Peizhong;
Nakamura, Kazuhiro;
Bebbington, Christopher;
Park, Byung;
Reddy, P. Hemachandra

Publication type:

Article

Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate α-secretase activity.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 20, p. 3987, doi. 10.1093/hmg/ddp323

By:

Kim, Minji;
Suh, Jaehong;
Romano, Donna;
Truong, Mimy H.;
Mullin, Kristina;
Hooli, Basavaraj;
Norton, David;
Tesco, Giuseppina;
Elliott, Kathy;
Wagner, Steven L.;
Moir, Robert D.;
Becker, K. David;
Tanzi, Rudolph E.

Publication type:

Article

Expression differences by continent of origin point to the immortalization process.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 20, p. 3864, doi. 10.1093/hmg/ddp330

By:

Davis, Adam R.;
Kohane, Isaac S.

Publication type:

Article

Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 20, p. 3906, doi. 10.1093/hmg/ddp333

By:

Mattis, Virginia B.;
Ebert, Allison D.;
Fosso, Marina Y.;
Chang, Cheng-Wei;
Lorson, Christian L.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 20, p. NP, doi. 10.1093/hmg/ddp402
Publication type:: Article

Mutations in the LRRK2 Roc-COR tandem domain link Parkinson's disease to Wnt signalling pathways.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 20, p. 3955, doi. 10.1093/hmg/ddp337

By:

Sancho, Rosa M.;
Law, Bernard M.H.;
Harvey, Kirsten

Publication type:

Article

Pathogenic human L1-CAM mutations reduce the adhesion-dependent activation of EGFR.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 20, p. 3822, doi. 10.1093/hmg/ddp325

By:

Nagaraj, Kakanahalli;
Kristiansen, Lars V.;
Skrzynski, Adam;
Castiella, Carlos;
Garcia-Alonso, Luis;
Hortsch, Michael

Publication type:

Article

Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 20, p. 3926, doi. 10.1093/hmg/ddp335

By:

Hsiao, Yi-Chun;
Tong, Zachary J.;
Westfall, Jennifer E.;
Ault, Jeffrey G.;
Page-McCaw, Patrick S.;
Ferland, Russell J.

Publication type:

Article

Targeted disruption of the Wnk4 gene decreases phosphorylation of Na-Cl cotransporter, increases Na excretion and lowers blood pressure.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 20, p. 3978, doi. 10.1093/hmg/ddp344

By:

Ohta, Akihito;
Rai, Tatemitsu;
Yui, Naofumi;
Chiga, Motoko;
Yang, Sung-Sen;
Lin, Shih-Hua;
Sohara, Eisei;
Sasaki, Sei;
Uchida, Shinichi

Publication type:

Article

DNA methylation and gene expression differences in children conceived in vitro or in vivo.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 20, p. 3769, doi. 10.1093/hmg/ddp319

By:

Katari, Sunita;
Turan, Nahid;
Bibikova, Marina;
Erinle, Oluwatoyin;
Chalian, Raffi;
Foster, Michael;
Gaughan, John P.;
Coutifaris, Christos;
Sapienza, Carmen

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 20, p. NP, doi. 10.1093/hmg/ddp404
Publication type:: Article

Dysbindin-1 in dorsolateral prefrontal cortex of schizophrenia cases is reduced in an isoform-specific manner unrelated to dysbindin-1 mRNA expression.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 20, p. 3851, doi. 10.1093/hmg/ddp329

By:

Tang, Junxia;
LeGros, Robert P.;
Louneva, Natalia;
Yeh, Lilly;
Cohen, Julia W.;
Hahn, Chang-Gyu;
Blake, Derek J.;
Arnold, Steven E.;
Talbot, Konrad

Publication type:

Article

The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 20, p. 3805, doi. 10.1093/hmg/ddp324

By:

Tsang, Hilda T.H.;
Edwards, Thomas L.;
Wang, Xinnan;
Connell, James W.;
Davies, Rachel J.;
Durrington, Hannah J.;
O'Kane, Cahir J.;
Luzio, J. Paul;
Reid, Evan

Publication type:

Article

Analyses of mental dysfunction-related ACSl4 in Drosophila reveal its requirement for Dpp/BMP production and visual wiring in the brain.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 20, p. 3894, doi. 10.1093/hmg/ddp332

By:

Zhang, Yi;
Chen, Di;
Wang, Zhaohui

Publication type:

Article

Tissue-specific alternative splicing of TCF7L2.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 20, p. 3795, doi. 10.1093/hmg/ddp321

By:

Prokunina-Olsson, Ludmila;
Welch, Cullan;
Hansson, Ola;
Adhikari, Neeta;
Scott, Laura J.;
Usher, Nicolle;
Tong, Maurine;
Sprau, Andrew;
Swift, Amy;
Bonnycastle, Lori L.;
Erdos, Michael R.;
He, Zhi;
Saxena, Richa;
Harmon, Brennan;
Kotova, Olga;
Hoffman, Eric P.;
Altshuler, David;
Groop, Leif;
Boehnke, Michael;
Collins, Francis S.

Publication type:

Article

Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 20, p. 3997, doi. 10.1093/hmg/ddp339

By:

Sabatelli, Mario;
Eusebi, Fabrizio;
Al-Chalabi, Ammar;
Conte, Amelia;
Madia, Francesca;
Luigetti, Marco;
Mancuso, Irene;
Limatola, Cristina;
Trettel, Flavia;
Sobrero, Fabrizia;
Di Angelantonio, Silvia;
Grassi, Francesca;
Di Castro, Amalia;
Moriconi, Claudia;
Fucile, Sergio;
Lattante, Serena;
Marangi, Giuseppe;
Murdolo, Marina;
Orteschi, Daniela;
Del Grande, Alessandra

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 20, p. NP, doi. 10.1093/hmg/ddp403
Publication type:: Article

Subscription Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 20, p. NP, doi. 10.1093/hmg/ddp405
Publication type:: Article

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 20, p. 3779, doi. 10.1093/hmg/ddp320

By:

Daoud, Fatma;
Angeard, Nathalie;
Demerre, Bénédicte;
Martie, Itxaso;
Benyaou, Rabah;
Leturcq, France;
Cossée, Mireille;
Deburgrave, Nathalie;
Saillour, Yoann;
Tuffery, Sylvie;
Urtizberea, Andoni;
Toutain, Annick;
Echenne, Bernard;
Frischman, Martine;
Mayer, Michèle;
Desguerre, Isabelle;
Estournet, Brigitte;
Réveillère, Christian;
Penisson-Besnier;
Cuisset, Jean Marie

Publication type:

Article

Mutant huntingtin interacts with β-tubulin and disrupts vesicular transport and insulin secretion.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 20, p. 3942, doi. 10.1093/hmg/ddp336

By:

Smith, Ruben;
Bacos, Karl;
Fedele, Valentina;
Soulet, Denis;
Walz, Helena A.;
Obermüller, Stefanie;
Lindqvist, Anders;
Björkqvist, Maria;
Klein, Pontus;
Önnerfjord, Patrik;
Brundin, Patrik;
Mulder, Hindrik;
Li, Jia-Yi

Publication type:

Article