Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 5

Results: 25

The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 5, p. 1155, doi. 10.1093/hmg/ddr544

By:

Zalli, Detina;
Bayliss, Richard;
Fry, Andrew M.

Publication type:

Article

The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 5, p. 1201, doi. 10.1093/hmg/ddr571

By:

Chen, Pan;
Burdette, Alexander J.;
Porter, J. Christopher;
Ricketts, John C.;
Fox, Stacey A.;
Nery, Flavia C.;
Hewett, Jeffrey W.;
Berkowitz, Laura A.;
Breakefield, Xandra O.;
Caldwell, Kim A.;
Caldwell, Guy A.

Publication type:

Article

Tuberin and PRAS40 are anti-apoptotic gatekeepers during early human amniotic fluid stem-cell differentiation.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 5, p. 1049, doi. 10.1093/hmg/ddr535

By:

Fuchs, Christiane;
Rosner, Margit;
Dolznig, Helmut;
Mikula, Mario;
Kramer, Nina;
Hengstschläger, Markus

Publication type:

Article

Pharmacologic activation of mitochondrial biogenesis exerts widespread beneficial effects in a transgenic mouse model of Huntington's disease.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 5, p. 1124, doi. 10.1093/hmg/ddr541

By:

Johri, Ashu;
Calingasan, Noel Y.;
Hennessey, Thomas M.;
Sharma, Abhijeet;
Yang, Lichuan;
Wille, Elizabeth;
Chandra, Abhishek;
Beal, M. Flint

Publication type:

Article

Targeted mutation of SLC4A5 induces arterial hypertension and renal metabolic acidosis.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 5, p. 1025, doi. 10.1093/hmg/ddr533

By:

Gröger, Nicole;
Vitzthum, Helga;
Fröhlich, Henning;
Krüger, Marcus;
Ehmke, Heimo;
Braun, Thomas;
Boettger, Thomas

Publication type:

Article

BLM helicase facilitates RNA polymerase I-mediated ribosomal RNA transcription.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 5, p. 1172, doi. 10.1093/hmg/ddr545

By:

Grierson, Patrick M.;
Lillard, Kate;
Behbehani, Gregory K.;
Combs, Kelly A.;
Bhattacharyya, Saumitri;
Acharya, Samir;
Groden, Joanna

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 5, p. NP, doi. 10.1093/hmg/dds042
Publication type:: Article

Cellular prion protein is essential for oligomeric amyloid-β-induced neuronal cell death.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 5, p. 1138, doi. 10.1093/hmg/ddr542

By:

Kudo, Wataru;
Lee, Hyun-Pil;
Zou, Wen-Quan;
Wang, Xinglong;
Perry, George;
Zhu, Xiongwei;
Smith, Mark A.;
Petersen, Robert B.;
Lee, Hyoung-gon

Publication type:

Article

A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 5, p. 1004, doi. 10.1093/hmg/ddr531

By:

Carabalona, Aurelie;
Beguin, Shirley;
Pallesi-Pocachard, Emilie;
Buhler, Emmanuelle;
Pellegrino, Christophe;
Arnaud, Karen;
Hubert, Philippe;
Oualha, Mehdi;
Siffroi, Jean Pierre;
Khantane, Sabrina;
Coupry, Isabelle;
Goizet, Cyril;
Gelot, Antoinette Bernabe;
Represa, Alfonso;
Cardoso, Carlos

Publication type:

Article

Mitochondrial autophagy in cells with mtDNA mutations results from synergistic loss of transmembrane potential and mTORC1 inhibition.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 5, p. 978, doi. 10.1093/hmg/ddr529

By:

Gilkerson, Robert W.;
De Vries, Rosa L.A.;
Lebot, Paul;
Wikstrom, Jakob D.;
Torgyekes, Edina;
Shirihai, Orian S.;
Przedborski, Serge;
Schon, Eric A.

Publication type:

Article

Knockdown of the psychosis susceptibility gene ZNF804A alters expression of genes involved in cell adhesion.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 5, p. 1018, doi. 10.1093/hmg/ddr532

By:

Hill, Matthew J.;
Jeffries, Aaron R.;
Dobson, Richard J.B.;
Price, Jack;
Bray, Nicholas J.

Publication type:

Article

Genetic polymorphism of cytochrome P450 2D6 determines oestrogen receptor activity of the major infertility drug clomiphene via its active metabolites.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 5, p. 1145, doi. 10.1093/hmg/ddr543

By:

Mürdter, Thomas E.;
Kerb, Reinhold;
Turpeinen, Miia;
Schroth, Werner;
Ganchev, Boian;
Böhmer, Gabriele M.;
Igel, Svitlana;
Schaeffeler, Elke;
Zanger, Ulrich;
Brauch, Hiltrud;
Schwab, Matthias

Publication type:

Article

The chromosome 2p21 region harbors a complex genetic architecture for association with risk for renal cell carcinoma.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 5, p. 1190, doi. 10.1093/hmg/ddr551

By:

Han, Summer S.;
Yeager, Meredith;
Moore, Lee E.;
Wei, Ming-Hui;
Pfeiffer, Ruth;
Toure, Ousmane;
Purdue, Mark P.;
Johansson, Mattias;
Scelo, Ghislaine;
Chung, Charles C.;
Gaborieau, Valerie;
Zaridze, David;
Schwartz, Kendra;
Szeszenia-Dabrowska, Neonilia;
Davis, Faith;
Bencko, Vladimir;
Colt, Joanne S.;
Janout, Vladimir;
Matveev, Vsevolod;
Foretova, Lenka

Publication type:

Article

Differential effects of a polyalanine tract expansion in Arx on neural development and gene expression.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 5, p. 1090, doi. 10.1093/hmg/ddr538

By:

Nasrallah, MacLean Pancoast;
Cho, Ginam;
Simonet, Jacqueline C.;
Putt, Mary E.;
Kitamura, Kunio;
Golden, Jeffrey A.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 5, p. NP, doi. 10.1093/hmg/dds041
Publication type:: Article

Subscription Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 5, p. NP, doi. 10.1093/hmg/dds044
Publication type:: Article

The homocysteine-inducible endoplasmic reticulum (ER) stress protein Herp counteracts mutant α-synuclein-induced ER stress via the homeostatic regulation of ER-resident calcium release channel proteins.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 5, p. 963, doi. 10.1093/hmg/ddr502

By:

Belal, Cherine;
Ameli, Neema J.;
El Kommos, Adam;
Bezalel, Spencer;
Al'Khafaji, Aziz M.;
Mughal, Mohamed R.;
Mattson, Mark P.;
Kyriazis, George A.;
Tyrberg, Björn;
Chan, Sic L.

Publication type:

Article

Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 5, p. 1062, doi. 10.1093/hmg/ddr536

By:

Schlüter, Agatha;
Espinosa, Lluís;
Fourcade, Stéphane;
Galino, Jorge;
López, Eva;
Ilieva, Ekaterina;
Morató, Laia;
Asheuer, Muriel;
Cook, Ted;
McLaren, Alistair;
Reid, Juliet;
Kelly, Fiona;
Bates, Stewart;
Aubourg, Patrick;
Galea, Elena;
Pujol, Aurora

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 5, p. NP, doi. 10.1093/hmg/dds043
Publication type:: Article

Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 5, p. 1184, doi. 10.1093/hmg/ddr550

By:

Guo, Youling;
Baum, Larry W.;
Sham, Pak Chung;
Wong, Virginia;
Ng, Ping Wing;
Lui, Colin Hiu Tung;
Sin, Ngai Chuen;
Tsoi, Tak Hong;
Tang, Clara S.M.;
Kwan, Johnny S.H.;
Yip, Benjamin H.K.;
Xiao, Su-Mei;
Thomas, G. Neil;
Lau, Yu Lung;
Yang, Wanling;
Cherny, Stacey S.;
Kwan, Patrick

Publication type:

Article

DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 5, p. 1037, doi. 10.1093/hmg/ddr534

By:

Bertrand, Anne T.;
Renou, Laure;
Papadopoulos, Aurélie;
Beuvin, Maud;
Lacène, Emmanuelle;
Massart, Catherine;
Ottolenghi, Chris;
Decostre, Valérie;
Maron, Sophia;
Schlossarek, Saskia;
Cattin, Marie-Elodie;
Carrier, Lucie;
Malissen, Marie;
Arimura, Takuro;
Bonne, Gisèle

Publication type:

Article

C/EBPβ and RUNX2 cooperate to degrade cartilage with MMP-13 as the target and HIF-2α as the inducer in chondrocytes.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 5, p. 1111, doi. 10.1093/hmg/ddr540

By:

Hirata, Makoto;
Kugimiya, Fumitaka;
Fukai, Atsushi;
Saito, Taku;
Yano, Fumiko;
Ikeda, Toshiyuki;
Mabuchi, Akihiko;
Sapkota, Bishwa Raj;
Akune, Toru;
Nishida, Nao;
Yoshimura, Noriko;
Nakagawa, Takumi;
Tokunaga, Katsushi;
Nakamura, Kozo;
Chung, Ung-il;
Kawaguchi, Hiroshi

Publication type:

Article

Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 5, p. 1099, doi. 10.1093/hmg/ddr539

By:

Nakamura, Yoko;
Tagawa, Kazuhiko;
Oka, Tsutomu;
Sasabe, Toshikazu;
Ito, Hikaru;
Shiwaku, Hiroki;
La Spada, Albert R.;
Okazawa, Hitoshi

Publication type:

Article

Parkin interacts with Klokin1 for mitochondrial import and maintenance of membrane potential.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 5, p. 991, doi. 10.1093/hmg/ddr530

By:

Kuroda, Yukiko;
Sako, Wataru;
Goto, Satoshi;
Sawada, Tomoyo;
Uchida, Daisuke;
Izumi, Yuishin;
Takahashi, Tetsuya;
Kagawa, Noriko;
Matsumoto, Masayasu;
Matsumoto, Mitsuru;
Takahashi, Ryosuke;
Kaji, Ryuji;
Mitsui, Takao

Publication type:

Article

Altered dopamine metabolism and increased vulnerability to MPTP in mice with partial deficiency of mitochondrial complex I in dopamine neurons.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 5, p. 1078, doi. 10.1093/hmg/ddr537

By:

Sterky, Fredrik H.;
Hoffman, Alexander F.;
Milenkovic, Dusanka;
Bao, Betty;
Paganelli, Arianna;
Edgar, Daniel;
Wibom, Rolf;
Lupica, Carl R.;
Olson, Lars;
Larsson, Nils-Göran

Publication type:

Article