Works matching IS 09646906 AND DT 2013 AND VI 22 AND IP 2

Results: 22

The Birt–Hogg–Dubé tumor suppressor Folliculin negatively regulates ribosomal RNA synthesis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 2, p. 284, doi. 10.1093/hmg/dds428

By:

Gaur, Kriti;
Li, Jinghong;
Wang, Dakun;
Dutta, Pranabananda;
Yan, Shian-Jang;
Tsurumi, Amy;
Land, Hartmut;
Wu, Guan;
Li, Willis X.

Publication type:

Article

Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 2, p. 391, doi. 10.1093/hmg/dds436

By:

Lemmens, Robin;
Maugeri, Alessandra;
Niessen, Hans W. M.;
Goris, An;
Tousseyn, Thomas;
Demaerel, Philippe;
Corveleyn, Anniek;
Robberecht, Wim;
van der Knaap, Marjo S.;
Thijs, Vincent N.;
Zwijnenburg, Petra J.G.

Publication type:

Article

Primordial germ cells and gastrointestinal stromal tumors respond distinctly to a cKit overactivating allele.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 2, p. 313, doi. 10.1093/hmg/dds430

By:

Chen, Li;
Faire, Mehlika;
Kissner, Michael D.;
Laird, Diana J.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 2, p. NP, doi. 10.1093/hmg/dds544
Publication type:: Article

Kinase inhibitors arrest neurodegeneration in cell and C. elegans models of LRRK2 toxicity.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 2, p. 328, doi. 10.1093/hmg/dds431

By:

Yao, Chen;
Johnson, William M.;
Gao, Yue;
Wang, Wen;
Zhang, Jinwei;
Deak, Maria;
Alessi, Dario R.;
Zhu, Xiongwei;
Mieyal, John J.;
Roder, Hanno;
Wilson-Delfosse, Amy L.;
Chen, Shu G.

Publication type:

Article

A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 2, p. 345, doi. 10.1093/hmg/dds432

By:

Geister, Krista A.;
Brinkmeier, Michelle L.;
Hsieh, Minnie;
Faust, Susan M.;
Karolyi, I. Jill;
Perosky, Joseph E.;
Kozloff, Kenneth M.;
Conti, Marco;
Camper, Sally A.

Publication type:

Article

Defective neural crest migration revealed by a Zebrafish model of Alx1-related frontonasal dysplasia.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 2, p. 239, doi. 10.1093/hmg/dds423

By:

Dee, Chris T.;
Szymoniuk, Christoph R.;
Mills, Peter E.D.;
Takahashi, Tokiharu

Publication type:

Article

VPA response in SMA is suppressed by the fatty acid translocase CD36.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 2, p. 398, doi. 10.1093/hmg/dds437

By:

Garbes, Lutz;
Heesen, Ludwig;
Hölker, Irmgard;
Bauer, Tim;
Schreml, Julia;
Zimmermann, Katharina;
Thoenes, Michaela;
Walter, Michael;
Dimos, John;
Peitz, Michael;
Brüstle, Oliver;
Heller, Raoul;
Wirth, Brunhilde

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 2, p. NP, doi. 10.1093/hmg/dds543
Publication type:: Article

Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 2, p. 271, doi. 10.1093/hmg/dds427

By:

Hansen, Stephen T.;
Meera, Pratap;
Otis, Thomas S.;
Pulst, Stefan M.

Publication type:

Article

Universal heteroplasmy of human mitochondrial DNA.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 2, p. 384, doi. 10.1093/hmg/dds435

By:

Payne, Brendan A.I.;
Wilson, Ian J.;
Yu-Wai-Man, Patrick;
Coxhead, Jonathan;
Deehan, David;
Horvath, Rita;
Taylor, Robert W.;
Samuels, David C.;
Santibanez-Koref, Mauro;
Chinnery, Patrick F.

Publication type:

Article

The FTD/ALS-associated RNA-binding protein TDP-43 regulates the robustness of neuronal specification through microRNA-9a in Drosophila.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 2, p. 218

By:

Li, Zhaodong;
Lu, Yubing;
Xu, Xia-Lian;
Gao, Fen-Biao

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 2, p. NP, doi. 10.1093/hmg/dds542
Publication type:: Article

A sequence-based approach demonstrates that balancing selection in classical human leukocyte antigen (HLA) loci is asymmetric.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 2, p. 252, doi. 10.1093/hmg/dds424

By:

Bronson, Paola G.;
Mack, Steven J.;
Erlich, Henry A.;
Slatkin, Montgomery

Publication type:

Article

Selective preservation of MeCP2 in catecholaminergic cells is sufficient to improve the behavioral phenotype of male and female Mecp2-deficient mice.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 2, p. 358, doi. 10.1093/hmg/dds433

By:

Lang, Min;
Wither, Robert G.;
Brotchie, Jonathan M.;
Wu, Chiping;
Zhang, Liang;
Eubanks, James H.

Publication type:

Article

Vacuolar-type H+-ATPase V1A subunit is a molecular partner of Wolfram syndrome 1 (WFS1) protein, which regulates its expression and stability.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 2, p. 203, doi. 10.1093/hmg/dds400

By:

Gharanei, Seley;
Zatyka, Malgorzata;
Astuti, Dewi;
Fenton, Janine;
Sik, Attila;
Nagy, Zsuzsanna;
Barrett, Timothy G.

Publication type:

Article

22q11 Gene dosage establishes an adaptive range for sonic hedgehog and retinoic acid signaling during early development.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 2, p. 300, doi. 10.1093/hmg/dds429

By:

Maynard, Thomas M.;
Gopalakrishna, Deepak;
Meechan, Daniel W.;
Paronett, Elizabeth M.;
Newbern, Jason M.;
LaMantia, Anthony-Samuel

Publication type:

Article

Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 2, p. 262, doi. 10.1093/hmg/dds426

By:

Cirstea, Ion C.;
Gremer, Lothar;
Dvorsky, Radovan;
Zhang, Si-Cai;
Piekorz, Roland P.;
Zenker, Martin;
Ahmadian, Mohammad Reza

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 2, p. NP, doi. 10.1093/hmg/dds545
Publication type:: Article

A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 2, p. 408

By:

Amin Al Olama, Ali;
Kote-Jarai, Zsofia;
Schumacher, Fredrick R.;
Wiklund, Fredrik;
Berndt, Sonja I.;
Benlloch, Sara;
Giles, Graham G.;
Severi, Gianluca;
Neal, David E.;
Hamdy, Freddie C.;
Donovan, Jenny L.;
Hunter, David J.;
Henderson, Brian E.;
Thun, Michael J.;
Gaziano, Michael;
Giovannucci, Edward L.;
Siddiq, Afshan;
Travis, Ruth C.;
Cox, David G.;
Canzian, Federico

Publication type:

Article

A critical role for Telethonin in regulating t-tubule structure and function in the mammalian heart.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 2, p. 372, doi. 10.1093/hmg/dds434

By:

Ibrahim, Michael;
Siedlecka, Urszula;
Buyandelger, Byambajav;
Harada, Mutsuo;
Rao, Christopher;
Moshkov, Alexey;
Bhargava, Anamika;
Schneider, Michael;
Yacoub, Magdi H.;
Gorelik, Julia;
Knöll, Ralph;
Terracciano, Cesare M.

Publication type:

Article

Somatic complex I disruptive mitochondrial DNA mutations are modifiers of tumorigenesis that correlate with low genomic instability in pituitary adenomas.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 2, p. 226, doi. 10.1093/hmg/dds422

By:

Kurelac, Ivana;
MacKay, Alan;
Lambros, Maryou B.K.;
Di Cesare, Erica;
Cenacchi, Giovanna;
Ceccarelli, Claudio;
Morra, Isabella;
Melcarne, Antonio;
Morandi, Luca;
Calabrese, Francesco Maria;
Attimonelli, Marcella;
Tallini, Giovanni;
Reis-Filho, Jorge S.;
Gasparre, Giuseppe

Publication type:

Article