Works matching IS 09646906 AND DT 2009 AND VI 18 AND IP 7

Results: 22

Glaucoma-associated WDR36 variants encode functional defects in a yeast model system.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 7, p. 1276, doi. 10.1093/hmg/ddp027

By:

Footz, Tim K.;
Johnson, Jill L.;
Dubois, Stéphane;
Boivin, Nicolas;
Raymond, Vincent;
Walter, Michael A.

Publication type:

Article

The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 7, p. 1301, doi. 10.1093/hmg/ddp029

By:

Dieterich, Klaus;
Zouari, Raoudha;
Harbuz, Radu;
Vialard, François;
Martinez, Delphine;
Bellayou, Hanane;
Prisant, Nadia;
Zoghmar, Abdelali;
Guichaoua, Marie Roberte;
Koscinski, Isabelle;
Kharouf, Mahmoud;
Noruzinia, Mehrdad;
Nadifi, Sellama;
Sefiani, Abdelaziz;
Lornage, Jacqueline;
Zahi, Mohamed;
Viville, Stéphane;
Sèle, Bernard;
Jouk, Pierre-Simon;
Jacob, Marie-Christine

Publication type:

Article

IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1).

Published in:

Human Molecular Genetics, 2009, v. 18, n. 7, p. 1288, doi. 10.1093/hmg/ddp028

By:

Guenther, Ulf-Peter;
Handoko, Lusy;
Laggerbauer, Bernhard;
Jablonka, Sibylle;
Chari, Ashwin;
Alzheimer, Mona;
Ohmer, Jürgen;
Plöttner, Oliver;
Gehring, Niels;
Sickmann, Albert;
von Au, Katja;
Schuelke, Markus;
Fischer, Utz

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 7, p. NP, doi. 10.1093/hmg/ddp105
Publication type:: Article

Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 7, p. 1310, doi. 10.1093/hmg/ddp030

By:

Heier, Christopher R.;
DiDonato, Christine J.

Publication type:

Article

Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 7, p. 1200, doi. 10.1093/hmg/ddp014

By:

Landsverk, Megan L.;
Ruzzo, Elizabeth K.;
Mefford, Heather C.;
Buysse, Karen;
Buchan, Jillian G.;
Eichler, Evan E.;
Petty, Elizabeth M.;
Peterson, Esther A.;
Knutzen, Dana M.;
Barnett, Karen;
Farlow, Martin R.;
Caress, Judy;
Parry, Gareth J.;
Quan, Dianna;
Gardner, Kathy L.;
Hong, Ming;
Simmons, Zachary;
Bird, Thomas D.;
Chance, Phillip F.;
Hannibal, Mark C.

Publication type:

Article

Retrotransposon RNA expression and evidence for retrotransposition events in human oocytes.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 7, p. 1221, doi. 10.1093/hmg/ddp022

By:

Georgiou, Ioannis;
Noutsopoulos, Dimitrios;
Dimitriadou, Eftychia;
Markopoulos, Georgios;
Apergi, Anastasia;
Lazaros, Leandros;
Vaxevanoglou, Terpsi;
Pantos, Kostas;
Syrrou, Maria;
Tzavaras, Theodore

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 7, p. NP, doi. 10.1093/hmg/ddp106
Publication type:: Article

Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 7, p. 1229, doi. 10.1093/hmg/ddp023

By:

Bian, Yang;
Masuda, Akio;
Matsuura, Tohru;
Ito, Mikako;
Okushin, Kazuya;
Engel, Andrew G.;
Ohno, Kinji

Publication type:

Article

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 7, p. 1323, doi. 10.1093/hmg/ddp031

By:

Seo, Seongjin;
Guo, Deng-Fu;
Bugge, Kevin;
Morgan, Donald A.;
Rahmouni, Kamal;
Sheffield, Val C.

Publication type:

Article

Suppression of GFAP toxicity by αB-crystallin in mouse models of Alexander disease.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 7, p. 1190, doi. 10.1093/hmg/ddp013

By:

Hagemann, Tracy L.;
Boelens, Wilbert C.;
Wawrousek, Eric F.;
Messing, Albee

Publication type:

Article

Fine mapping association study and functional analysis implicate a SNP in MSMB at 10q11 as a causal variant for prostate cancer risk.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 7, p. 1368, doi. 10.1093/hmg/ddp035

By:

Chang, Bao-Li;
Cramer, Scott D.;
Wiklund, Fredrik;
Isaacs, Sarah D.;
Stevens, Victoria L.;
Sun, Jielin;
Smith, Shelly;
Pruett, Kristen;
Romero, Lina M.;
Wiley, Kathleen E.;
Kim, Seong-Tae;
Zhu, Yi;
Zhang, Zheng;
Hsu, Fang-Chi;
Turner, Aubrey R.;
Adolfsson, Jan;
Liu, Wennuan;
Kim, Jin Woo;
Duggan, David;
Carpten, John

Publication type:

Article

The multimeric structure of polycystin-2 (TRPP2): structural–functional correlates of homo- and hetero-multimers with TRPC1.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 7, p. 1238, doi. 10.1093/hmg/ddp024

By:

Zhang, Peng;
Luo, Ying;
Chasan, Bernard;
González-Perrett, Silvia;
Montalbetti, Nicolás;
Timpanaro, Gustavo A.;
Cantero, María del Rocío;
Ramos, Arnolt J.;
Goldmann, Wolfgang H.;
Zhou, Jing;
Cantiello, Horacio F.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 7, p. NP, doi. 10.1093/hmg/ddp104
Publication type:: Article

Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic component.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 7, p. 1353, doi. 10.1093/hmg/ddp036

By:

Kudryashova, Elena;
Wu, Jun;
Havton, Leif A.;
Spencer, Melissa J.

Publication type:

Article

The SRY-HMG box gene, SOX4, is a target of gene amplification at chromosome 6p in lung cancer†.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 7, p. 1343, doi. 10.1093/hmg/ddp034

By:

Medina, Pedro P.;
Castillo, Sandra D.;
Blanco, Sandra;
Sanz-Garcia, Marta;
Largo, Cristina;
Alvarez, Sara;
Yokota, Jun;
Gonzalez-Neira, Ana;
Benitez, Javier;
Clevers, Hans C.;
Cigudosa, Juan C.;
Lazo, Pedro A.;
Sanchez-Cespedes, Montse

Publication type:

Article

Gene-body hypermethylation of ATM in peripheral blood DNA of bilateral breast cancer patients.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 7, p. 1332, doi. 10.1093/hmg/ddp033

By:

Flanagan, James M.;
Munoz-Alegre, Marta;
Henderson, Stephen;
Tang, Thomas;
Sun, Ping;
Johnson, Nichola;
Fletcher, Olivia;
dos Santos Silva, Isabel;
Peto, Julian;
Boshoff, Chris;
Narod, Steven;
Petronis, Arturas

Publication type:

Article

Sub-physiological sarcoglycan expression contributes to compensatory muscle protection in mdx mice.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 7, p. 1209, doi. 10.1093/hmg/ddp015

By:

Li, Dejia;
Long, Chun;
Yue, Yongping;
Duan, Dongsheng

Publication type:

Article

The loss of the snoRNP chaperone Nopp140 from Cajal bodies of patient fibroblasts correlates with the severity of spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 7, p. 1181, doi. 10.1093/hmg/ddp009

By:

Renvoisé, Benoît;
Colasse, Sabrina;
Burlet, Philippe;
Viollet, Louis;
Meier, U. Thomas;
Lefebvre, Suzie

Publication type:

Article

Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 7, p. 1252, doi. 10.1093/hmg/ddp025

By:

Way, Sharon W.;
McKenna, James;
Mietzsch, Ulrike;
Reith, R. Michelle;
Wu, Henry Cheng-ju;
Gambello, Michael J.

Publication type:

Article

In conditions of limited chromophore supply rods entrap 11-cis-retinal leading to loss of cone function and cell death.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 7, p. 1266, doi. 10.1093/hmg/ddp026

By:

Samardzija, Marijana;
Tanimoto, Naoyuki;
Kostic, Corinne;
Beck, Susanne;
Oberhauser, Vitus;
Joly, Sandrine;
Thiersch, Markus;
Fahl, Edda;
Arsenijevic, Yvan;
von Lintig, Johannes;
Wenzel, Andreas;
Seeliger, Mathias W.;
Grimm, Christian

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 7, p. NP, doi. 10.1093/hmg/ddp103
Publication type:: Article