Works matching IS 09646906 AND DT 2010 AND VI 19 AND IP 6

Results: 22

Definitive hematopoiesis requires Runx1 C-terminal-mediated subnuclear targeting and transactivation.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 6, p. 1048, doi. 10.1093/hmg/ddp568

By:

Dowdy, Christopher R.;
Xie, Ronglin;
Frederick, Dana;
Hussain, Sadiq;
Zaidi, Sayyed K.;
Vradii, Diana;
Javed, Amjad;
Li, Xiangen;
Jones, Stephen N.;
Lian, Jane B.;
van Wijnen, Andre J.;
Stein, Janet L.;
Stein, Gary S.

Publication type:

Article

Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 6, p. 1098, doi. 10.1093/hmg/ddp581

By:

Dallabona, Cristina;
Marsano, René Massimiliano;
Arzuffi, Paola;
Ghezzi, Daniele;
Mancini, Patrizia;
Zeviani, Massimo;
Ferrero, Iliana;
Donnini, Claudia

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 6, p. NP, doi. 10.1093/hmg/ddq051
Publication type:: Article

Col4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volume.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 6, p. 1119, doi. 10.1093/hmg/ddp584

By:

Van Agtmael, Tom;
Bailey, Matthew A.;
Schlötzer-Schrehardt, Ursula;
Craigie, Eilidh;
Jackson, Ian J.;
Brownstein, David G.;
Megson, Ian L.;
Mullins, John J.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 6, p. NP, doi. 10.1093/hmg/ddq052
Publication type:: Article

The genetic and metabolic signature of oncocytic transformation implicates HIF1α destabilization.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 6, p. 1019, doi. 10.1093/hmg/ddp566

By:

Porcelli, Anna Maria;
Ghelli, Anna;
Ceccarelli, Claudio;
Lang, Martin;
Cenacchi, Giovanna;
Capristo, Mariantonietta;
Pennisi, Lucia Fiammetta;
Morra, Isabella;
Ciccarelli, Enrica;
Melcarne, Antonio;
Bartoletti-Stella, Anna;
Salfi, Nunzio;
Tallini, Giovanni;
Martinuzzi, Andrea;
Carelli, Valerio;
Attimonelli, Marcella;
Rugolo, Michela;
Romeo, Giovanni;
Gasparre, Giuseppe

Publication type:

Article

Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 6, p. 963, doi. 10.1093/hmg/ddp554

By:

Männikkö, Roope;
Jefferies, Craig;
Flanagan, Sarah E.;
Hattersley, Andrew;
Ellard, Sian;
Ashcroft, Frances M.

Publication type:

Article

Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 6, p. 1033, doi. 10.1093/hmg/ddp567

By:

McCray, Brett A.;
Skordalakes, Emmanuel;
Taylor, J. Paul

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 6, p. NP, doi. 10.1093/hmg/ddq053
Publication type:: Article

The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 6, p. 1076, doi. 10.1093/hmg/ddp571

By:

Kirschman, Lindsay T.;
Kolandaivelu, Saravanan;
Frederick, Jeanne M.;
Dang, Loan;
Goldberg, Andrew F.X.;
Baehr, Wolfgang;
Ramamurthy, Visvanathan

Publication type:

Article

A Drosophila mutant of LETM1, a candidate gene for seizures in Wolf-Hirschhorn syndrome.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 6, p. 987, doi. 10.1093/hmg/ddp563

By:

McQuibban, Angus G.;
Joza, Nicholas;
Megighian, Aram;
Scorzeto, Michele;
Zanini, Damiano;
Reipert, Siegfried;
Richter, Constance;
Schweyen, Rudolf J.;
Nowikovsky, Karin

Publication type:

Article

Ciliary neurotrophic factor-induced sprouting preserves motor function in a mouse model of mild spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 6, p. 973, doi. 10.1093/hmg/ddp562

By:

Simon, Christian M.;
Jablonka, Sibylle;
Ruiz, Rocio;
Tabares, Lucia;
Sendtner, Michael

Publication type:

Article

Mistargeting of SH3TC2 away from the recycling endosome causes Charcot–Marie–Tooth disease type 4C.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 6, p. 1009, doi. 10.1093/hmg/ddp565

By:

Roberts, Rhys C.;
Peden, Andrew A.;
Buss, Folma;
Bright, Nicholas A.;
Latouche, Morwena;
Reilly, Mary M.;
Kendrick-Jones, John;
Luzio, J. Paul

Publication type:

Article

Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 6, p. 1066, doi. 10.1093/hmg/ddp570

By:

Koshelev, Misha;
Sarma, Satyam;
Price, Roger E.;
Wehrens, Xander H.T.;
Cooper, Thomas A.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 6, p. NP, doi. 10.1093/hmg/ddq054
Publication type:: Article

Loss of nuclear poly(A)-binding protein 1 causes defects in myogenesis and mRNA biogenesis.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 6, p. 1058, doi. 10.1093/hmg/ddp569

By:

Apponi, Luciano H.;
Leung, Sara W.;
Williams, Kathryn R.;
Valentini, Sandro R.;
Corbett, Anita H.;
Pavlath, Grace K.

Publication type:

Article

Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 6, p. 1088, doi. 10.1093/hmg/ddp580

By:

Sun, Ying;
Liou, Benjamin;
Ran, Huimin;
Skelton, Matthew R.;
Williams, Michael T.;
Vorhees, Charles V.;
Kitatani, Kazuyuki;
Hannun, Yusuf A.;
Witte, David P.;
Xu, You-Hai;
Grabowski, Gregory A.

Publication type:

Article

Copy number variations in East-Asian population and their evolutionary and functional implications.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 6, p. 1001, doi. 10.1093/hmg/ddp564

By:

Yim, Seon-Hee;
Kim, Tae-Min;
Hu, Hae-Jin;
Kim, Ji-Hong;
Kim, Bong-Jo;
Lee, Jong-Young;
Han, Bok-Ghee;
Shin, Seung-Hun;
Jung, Seung-Hyun;
Chung, Yeun-Jun

Publication type:

Article

European lactase persistence genotype shows evidence of association with increase in body mass index.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 6, p. 1129, doi. 10.1093/hmg/ddp561

By:

Kettunen, Johannes;
Silander, Kaisa;
Saarela, Olli;
Amin, Najaf;
Müller, Martina;
Timpson, Nicholas;
Surakka, Ida;
Ripatti, Samuli;
Laitinen, Jaana;
Hartikainen, Anna-Liisa;
Pouta, Anneli;
Lahermo, Päivi;
Anttila, Verneri;
Männistö, Satu;
Jula, Antti;
Virtamo, Jarmo;
Salomaa, Veikko;
Lehtimäki, Terho;
Raitakari, Olli;
Gieger, Christian

Publication type:

Article

Functional SNP of ARHGEF10 confers risk of atherothrombotic stroke.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 6, p. 1137, doi. 10.1093/hmg/ddp582

By:

Matsushita, Tomonaga;
Ashikawa, Kyota;
Yonemoto, Koji;
Hirakawa, Yoichiro;
Hata, Jun;
Amitani, Hanae;
Doi, Yasufumi;
Ninomiya, Toshiharu;
Kitazono, Takanari;
Ibayashi, Setsuro;
Iida, Mitsuo;
Nakamura, Yusuke;
Kiyohara, Yutaka;
Kubo, Michiaki

Publication type:

Article

ITPKC gene SNP rs28493229 and Kawasaki disease in Taiwanese children.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 6, p. 1147, doi. 10.1093/hmg/ddp586

By:

Chi, Hsin;
Huang, Fu-Yuan;
Chen, Ming-Ren;
Chiu, Nan-Chang;
Lee, Hung-Chang;
Lin, Shuan-Pei;
Chen, Wei-Fang;
Lin, Chong-Ling;
Chan, Hui-Wen;
Liu, Hsin-Fu;
Huang, Li-Min;
Lee, Yann-Jinn

Publication type:

Article

Suppression of Ca2+ signaling in a mouse model of Best disease.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 6, p. 1108, doi. 10.1093/hmg/ddp583

By:

Zhang, Youwen;
Stanton, J. Brett;
Wu, Jiang;
Yu, Kuai;
Hartzell, H. Criss;
Peachey, Neal S.;
Marmorstein, Lihua Y.;
Marmorstein, Alan D.

Publication type:

Article