Works matching IS 09646906 AND DT 2008 AND VI 17 AND IP 11

Results: 19

Gain-of-function haplotype in the epithelial calcium channel TRPV6 is a risk factor for renal calcium stone formation.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 11, p. 1613, doi. 10.1093/hmg/ddn048

By:

Suzuki, Yoshiro;
Pasch, Andreas;
Bonny, Olivier;
Mohaupt, Markus G.;
Hediger, Matthias A.;
Frey, Felix J.

Publication type:

Article

Variants in the CD36 gene associate with the metabolic syndrome and high-density lipoprotein cholesterol.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 11, p. 1695, doi. 10.1093/hmg/ddn060

By:

Love-Gregory, Latisha;
Sherva, Richard;
Sun, Lingwei;
Wasson, Jon;
Schappe, Timothy;
Doria, Alessandro;
Rao, D.C.;
Hunt, Steven C.;
Klein, Samuel;
Neuman, Rosalind J.;
Permutt, M. Alan;
Abumrad, Nada A.

Publication type:

Article

Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 11, p. 1705, doi. 10.1093/hmg/ddn056

By:

Inoue, Ken;
Ohyama, Tomoko;
Sakuragi, Yosuke;
Yamamoto, Ryoko;
Inoue, Naoko A.;
Yu, Li-Hua;
Goto, Yu-ichi;
Wegner, Michael;
Lupski, James R.

Publication type:

Article

A model for familial exudative vitreoretinopathy caused by LPR5 mutations.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 11, p. 1605, doi. 10.1093/hmg/ddn047

By:

Xia, Chun-Hong;
Liu, Haiquan;
Cheung, Debra;
Wang, Meng;
Cheng, Catherine;
Du, Xin;
Chang, Bo;
Beutler, Bruce;
Gong, Xiaohua

Publication type:

Article

Biological and genetic interaction between Tenascin C and Neuropeptide S receptor 1 in allergic diseases.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 11, p. 1673, doi. 10.1093/hmg/ddn058

By:

Orsmark-Pietras, Christina;
Melén, Erik;
Vendelin, Johanna;
Bruce, Sara;
Laitinen, Annika;
Laitinen, Lauri A.;
Lauener, Roger;
Riedler, Josef;
von Mutius, Erika;
Doekes, Gert;
Wickman, Magnus;
van Hage, Marianne;
Pershagen, Göran;
Scheynius, Annika;
Nyberg, Fredrik;
Kere, Juha

Publication type:

Article

VAPB interacts with and modulates the activity of ATF6.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 11, p. 1517, doi. 10.1093/hmg/ddn040

By:

Gkogkas, Christos;
Middleton, Susan;
Kremer, Anna M.;
Wardrope, Caroline;
Hannah, Matthew;
Gillingwater, Thomas H.;
Skehel, Paul

Publication type:

Article

Interleukin-6 (IL-6) and receptor (IL6-R) gene haplotypes associate with amniotic fluid protein concentrations in preterm birth.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 11, p. 1619, doi. 10.1093/hmg/ddn049

By:

Velez, Digna R.;
Fortunato, Stephen J.;
Williams, Scott M.;
Menon, Ramkumar

Publication type:

Article

Stoichiometric imbalance in the receptor complex contributes to dysfunctional BMPR-II mediated signalling in pulmonary arterial hypertension.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 11, p. 1683, doi. 10.1093/hmg/ddn059

By:

Nasim, M. Talat;
Ghouri, Amar;
Patel, Bhakti;
James, Victoria;
Rudarakanchana, Nung;
Morrell, Nicholas W.;
Trembath, Richard C.

Publication type:

Article

The intracellular accumulation of polymeric neuroserpin explains the severity of the dementia FENIB.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 11, p. 1527, doi. 10.1093/hmg/ddn041

By:

Miranda, Elena;
MacLeod, Ian;
Davies, Mark J.;
Pérez, Juan;
Römisch, Karin;
Crowther, Damian C.;
Lomas, David A.

Publication type:

Article

Mice deficient in Neu4 sialidase exhibit abnormal ganglioside catabolism and lysosomal storage.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 11, p. 1556, doi. 10.1093/hmg/ddn043

By:

Seyrantepe, Volkan;
Canuel, Maryssa;
Carpentier, Stéphane;
Landry, Karine;
Durand, Stéphanie;
Liang, Feng;
Zeng, Jibin;
Caqueret, Aurore;
Gravel, Roy A.;
Marchesini, Sergio;
Zwingmann, Claudia;
Michaud, Jacques;
Morales, Carlos R.;
Levade, Thierry;
Pshezhetsky, Alexey V.

Publication type:

Article

Cyst formation and activation of the extracellular regulated kinase pathway after kidney specific inactivation of Pkd1.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 11, p. 1505, doi. 10.1093/hmg/ddn039

By:

Shibazaki, Sekiya;
Yu, Zhiheng;
Nishio, Saori;
Tian, Xin;
Thomson, R. Brent;
Mitobe, Michihiro;
Louvi, Angeliki;
Velazquez, Heino;
Ishibe, Shuta;
Cantley, Lloyd G.;
Igarashi, Peter;
Somlo, Stefan

Publication type:

Article

FANCM of the Fanconi anemia core complex is required for both monoubiquitination and DNA repair.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 11, p. 1641, doi. 10.1093/hmg/ddn054

By:

Xue, Yutong;
Li, Yongjiang;
Guo, Rong;
Ling, Chen;
Wang, Weidong

Publication type:

Article

Comparative expression analysis uncovers novel features of endogenous antisense transcription.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 11, p. 1631, doi. 10.1093/hmg/ddn051

By:

Okada, Yuki;
Tashiro, Chiaki;
Numata, Koji;
Watanabe, Kazufumi;
Nakaoka, Hajime;
Yamamoto, Naoyuki;
Okubo, Kazue;
Ikeda, Rieko;
Saito, Rintaro;
Kanai, Akio;
Abe, Kuniya;
Tomita, Masaru;
Kiyosawa, Hidenori

Publication type:

Article

Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 11, p. 1578, doi. 10.1093/hmg/ddn045

By:

Patel, Vishal;
Li, Ling;
Cobo-Stark, Patricia;
Shao, Xinli;
Somlo, Stefan;
Lin, Fangming;
Igarashi, Peter

Publication type:

Article

Atlastin GTPases are required for Golgi apparatus and ER morphogenesis.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 11, p. 1591, doi. 10.1093/hmg/ddn046

By:

Rismanchi, Neggy;
Soderblom, Cynthia;
Stadler, Julia;
Zhu, Peng-Peng;
Blackstone, Craig

Publication type:

Article

Significant association of the neurexin-1 gene (NRXN1) with nicotine dependence in European- and African-American smokers.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 11, p. 1569, doi. 10.1093/hmg/ddn044

By:

Nussbaum, Justin;
Xu, Qing;
Payne, Thomas J.;
Ma, Jennie Z.;
Huang, Weihua;
Gelernter, Joel;
Li, Ming D.

Publication type:

Article

Superovulation alters the expression of imprinted genes in the midgestation mouse placenta.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 11, p. 1653, doi. 10.1093/hmg/ddn055

By:

Fortier, Amanda L.;
Lopes, Flavia L.;
Darricarrère, Nicole;
Martel, Josée;
Trasler, Jacquetta M.

Publication type:

Article

Myopathy with lactic acidosis is linked to chromosome 12q23.3–24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 11, p. 1666, doi. 10.1093/hmg/ddn057

By:

Olsson, Angelica;
Lind, Lisbet;
Thornell, Lars-Eric;
Holmberg, Monica

Publication type:

Article

Autophagy induced by Alexander disease-mutant GFAP accumulation is regulated by p38/MAPK and mTOR signaling pathways.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 11, p. 1540, doi. 10.1093/hmg/ddn042

By:

Tang, Guomei;
Yue, Zhenyu;
Talloczy, Zsolt;
Hagemann, Tracy;
Cho, Woosung;
Messing, Albee;
Sulzer, David L.;
Goldman, James E.

Publication type:

Article