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

Results: 22

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