Works matching IS 09646906 AND DT 2013 AND VI 22 AND IP 5

Results: 23

Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 5, p. 919, doi. 10.1093/hmg/dds497

By:

Vogelaar, Ingrid P.;
Figueiredo, Joana;
van Rooij, Iris A.L.M.;
Simões-Correia, Joana;
van der Post, Rachel S.;
Melo, Soraia;
Seruca, Raquel;
Carels, Carine E.L.;
Ligtenberg, Marjolijn J.L.;
Hoogerbrugge, Nicoline

Publication type:

Article

Polg2 is essential for mammalian embryogenesis and is required for mtDNA maintenance.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 5, p. 1017, doi. 10.1093/hmg/dds506

By:

Humble, Margaret M.;
Young, Matthew J.;
Foley, Julie F.;
Pandiri, Arun R.;
Travlos, Greg S.;
Copeland, William C.

Publication type:

Article

Interleukin-1 alpha blockade prevents hyperkeratosis in an in vitro model of lamellar ichthyosis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 5, p. 1059, doi. 10.1093/hmg/dds511

By:

O'Shaughnessy, Ryan F.L.;
Chaudhury, Ishaan;
Harper, John I.

Publication type:

Article

Zic3 is required in the extra-cardiac perinodal region of the lateral plate mesoderm for left–right patterning and heart development.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 5, p. 879, doi. 10.1093/hmg/dds494

By:

Jiang, Zhengxin;
Zhu, Lirong;
Hu, Lingyun;
Slesnick, Timothy C.;
Pautler, Robia G.;
Justice, Monica J.;
Belmont, John W.

Publication type:

Article

Defective mitochondrial disulfide relay system, altered mitochondrial morphology and function in Huntington's disease.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 5, p. 989, doi. 10.1093/hmg/dds503

By:

Napoli, Eleonora;
Wong, Sarah;
Hung, Connie;
Ross-Inta, Catherine;
Bomdica, Prithvi;
Giulivi, Cecilia

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 5, p. NP, doi. 10.1093/hmg/ddt049
Publication type:: Article

Contents Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 5, p. NP, doi. 10.1093/hmg/ddt047
Publication type:: Article

Cover Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 5, p. NP, doi. 10.1093/hmg/ddt048
Publication type:: Article

Hedgehog regulates Norrie disease protein to drive neural progenitor self-renewal.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 5, p. 1005, doi. 10.1093/hmg/dds505

By:

McNeill, Brian;
Mazerolle, Chantal;
Bassett, Erin A.;
Mears, Alan J.;
Ringuette, Randy;
Lagali, Pamela;
Picketts, David J.;
Paes, Kim;
Rice, Dennis;
Wallace, Valerie A.

Publication type:

Article

Epigenome-wide association study in the European Prospective Investigation into Cancer and Nutrition (EPIC-Turin) identifies novel genetic loci associated with smoking.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 5, p. 843, doi. 10.1093/hmg/dds488

By:

Shenker, Natalie S.;
Polidoro, Silvia;
van Veldhoven, Karin;
Sacerdote, Carlotta;
Ricceri, Fulvio;
Birrell, Mark A.;
Belvisi, Maria G.;
Brown, Robert;
Vineis, Paolo;
Flanagan, James M.

Publication type:

Article

GLRB is the third major gene of effect in hyperekplexia.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 5, p. 927, doi. 10.1093/hmg/dds498

By:

Chung, Seo-Kyung;
Bode, Anna;
Cushion, Thomas D.;
Thomas, Rhys H.;
Hunt, Charlotte;
Wood, Sian-Elin;
Pickrell, William O.;
Drew, Cheney J.G.;
Yamashita, Sumimasa;
Shiang, Rita;
Leiz, Steffen;
Longhardt, Ann-Carolyn;
Raile, Vera;
Weschke, Bernhard;
Puri, Ratna D.;
Verma, Ishwar C.;
Harvey, Robert J.;
Ratnasinghe, Didi D.;
Parker, Michael;
Rittey, Chris

Publication type:

Article

FTO, obesity and the adolescent brain.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 5, p. 1050, doi. 10.1093/hmg/dds504

By:

Melka, Melkaye G.;
Gillis, Jesse;
Bernard, Manon;
Abrahamowicz, Michal;
Chakravarty, M. Mallar;
Leonard, Gabriel T.;
Perron, Michel;
Richer, Louis;
Veillette, Suzanne;
Banaschewski, Tobias;
Barker, Gareth J.;
Büchel, Christian;
Conrod, Patricia;
Flor, Herta;
Heinz, Andreas;
Garavan, Hugh;
Brühl, Rüdiger;
Mann, Karl;
Artiges, Eric;
Lourdusamy, Anbarasu

Publication type:

Article

Reduction of mutant ataxin-7 expression restores motor function and prevents cerebellar synaptic reorganization in a conditional mouse model of SCA7.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 5, p. 890, doi. 10.1093/hmg/dds495

By:

Furrer, Stephanie A.;
Waldherr, Sarah M.;
Mohanachandran, Mathini S.;
Baughn, Travis D.;
Nguyen, Kien-Thiet;
Sopher, Bryce L.;
Damian, Vincent A.;
Garden, Gwenn A.;
La Spada, Albert R.

Publication type:

Article

Hippocampal dysfunction in the Euchromatin histone methyltransferase 1 heterozygous knockout mouse model for Kleefstra syndrome.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 5, p. 852, doi. 10.1093/hmg/dds490

By:

Balemans, Monique C.M.;
Nadif Kasri, Nael;
Kopanitsa, Maksym V.;
Afinowi, Nurudeen O.;
Ramakers, Ger;
Peters, Theo A.;
Beynon, Andy J.;
Janssen, Sanne M.;
van Summeren, Rik C.J.;
Eeftens, Jorine M.;
Eikelenboom, Nathalie;
Benevento, Marco;
Tachibana, Makoto;
Shinkai, Yoichi;
Kleefstra, Tjitske;
van Bokhoven, Hans;
Van der Zee, Catharina E.E.M.

Publication type:

Article

MicroRNA-21 silencing enhances the cytotoxic effect of the antiangiogenic drug sunitinib in glioblastoma.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 5, p. 904, doi. 10.1093/hmg/dds496

By:

Costa, Pedro M.;
Cardoso, Ana L.;
Nóbrega, Clévio;
Pereira de Almeida, Luís F.;
Bruce, Jeffrey N.;
Canoll, Peter;
Pedroso de Lima, Maria C.

Publication type:

Article

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 5, p. 1039

By:

Holmans, Peter;
Moskvina, Valentina;
Jones, Lesley;
Sharma, Manu;
Vedernikov, Alexey;
Buchel, Finja;
Sadd, Mohamad;
Bras, Jose M.;
Bettella, Francesco;
Nicolaou, Nayia;
Simón-Sánchez, Javier;
Mittag, Florian;
Gibbs, J. Raphael;
Schulte, Claudia;
Durr, Alexandra;
Guerreiro, Rita;
Hernandez, Dena;
Brice, Alexis;
Stefánsson, Hreinn;
Majamaa, Kari

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 5, p. NP, doi. 10.1093/hmg/ddt050
Publication type:: Article

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 5, p. 1026, doi. 10.1093/hmg/dds507

By:

Beck, Tyler F.;
Veenma, Danielle;
Shchelochkov, Oleg A.;
Yu, Zhiyin;
Kim, Bum Jun;
Zaveri, Hitisha P.;
van Bever, Yolande;
Choi, Sunju;
Douben, Hannie;
Bertin, Terry K.;
Patel, Pragna I.;
Lee, Brendan;
Tibboel, Dick;
de Klein, Annelies;
Stockton, David W.;
Justice, Monica J.;
Scott, Daryl A.

Publication type:

Article

Functional characterization of Klippel–Trenaunay syndrome gene AGGF1 identifies a novel angiogenic signaling pathway for specification of vein differentiation and angiogenesis during embryogenesis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 5, p. 963, doi. 10.1093/hmg/dds501

By:

Chen, Di;
Li, Lei;
Tu, Xin;
Yin, Zhan;
Wang, Qing

Publication type:

Article

X-linked dystonia parkinsonism syndrome (XDP, lubag): disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 5, p. 941, doi. 10.1093/hmg/dds499

By:

Herzfeld, Thilo;
Nolte, Dagmar;
Grznarova, Maria;
Hofmann, Andrea;
Schultze, Joachim L.;
Müller, Ulrich

Publication type:

Article

LKB1-regulated adaptive mechanisms are essential for neuronal survival following mitochondrial dysfunction.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 5, p. 952, doi. 10.1093/hmg/dds500

By:

Germain, Marc;
Nguyen, Angela P.;
Khacho, Mireille;
Patten, David A.;
Screaton, Robert A.;
Park, David S.;
Slack, Ruth S.

Publication type:

Article

Heterozygous inactivation of the Nf1 gene in myeloid cells enhances neointima formation via a rosuvastatin-sensitive cellular pathway.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 5, p. 977, doi. 10.1093/hmg/dds502

By:

Stansfield, Brian K.;
Bessler, Waylan K.;
Mali, Raghuveer;
Mund, Julie A.;
Downing, Brandon;
Li, Fang;
Sarchet, Kara N.;
DiStasi, Matthew R.;
Conway, Simon J.;
Kapur, Reuben;
Ingram, David A.

Publication type:

Article

Loss of cIAP1 attenuates soleus muscle pathology and improves diaphragm function in mdx mice.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 5, p. 867, doi. 10.1093/hmg/dds493

By:

Enwere, Emeka K.;
Boudreault, Louise;
Holbrook, Janelle;
Timusk, Kristen;
Earl, Nathalie;
LaCasse, Eric;
Renaud, Jean-Marc;
Korneluk, Robert G.

Publication type:

Article