Works matching IS 09646906 AND DT 2008 AND VI 17 AND IP 23

Results: 24

The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 23, p. 3697, doi. 10.1093/hmg/ddn265

By:

Sasarman, Florin;
Antonicka, Hana;
Shoubridge, Eric A.

Publication type:

Article

Novel expression and transcriptional regulation of FoxJ1 during oro-facial morphogenesis.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 23, p. 3643, doi. 10.1093/hmg/ddn258

By:

Venugopalan, Shankar R.;
Amen, Melanie A.;
Wang, Jianbo;
Wong, Leeyean;
Cavender, Adriana C.;
D'Souza, Rena N.;
Akerlund, Mikael;
Brody, Steve L.;
Hjalt, Tord A.;
Amendt, Brad A.

Publication type:

Article

Mitochondrial processes are impaired in hereditary inclusion body myopathy.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 23, p. 3663, doi. 10.1093/hmg/ddn261

By:

Eisenberg, Iris;
Novershtern, Noa;
Itzhaki, Zohar;
Becker-Cohen, Michal;
Sadeh, Menachem;
Willems, Peter H.G.M.;
Friedman, Nir;
Koopman, Werner J.H.;
Mitrani-Rosenbaum, Stella

Publication type:

Article

Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 23, p. 3776, doi. 10.1093/hmg/ddn274

By:

Mansouri, Mahmoud Reza;
Schuster, Jens;
Badhai, Jitendra;
Stattin, Eva-Lena;
Lösel, Ralf;
Wehling, Martin;
Carlsson, Birgit;
Hovatta, Outi;
Karlström, Per Olof;
Golovleva, Irina;
Toniolo, Daniela;
Bione, Silvia;
Peluso, John;
Dahl, Niklas

Publication type:

Article

A SQSTM1/p62 mutation linked to Paget’s disease increases the osteoclastogenic potential of the bone microenvironment.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 23, p. 3708, doi. 10.1093/hmg/ddn266

By:

Hiruma, Yuko;
Kurihara, Noriyoshi;
Subler, Mark A.;
Zhou, Hua;
Boykin, Christina S.;
Zhang, Heju;
Ishizuka, Seiichi;
Dempster, David W.;
Roodman, G. David;
Windle, Jolene J.

Publication type:

Article

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 23, p. 3796, doi. 10.1093/hmg/ddn277

By:

Kim, Joon;
Krishnaswami, Suguna Rani;
Gleeson, Joseph G.

Publication type:

Article

Epileptic and developmental disorders of the speech cortex: ligand/receptor interaction of wild-type and mutant SRPX2 with the plasminogen activator receptor uPAR.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 23, p. 3617, doi. 10.1093/hmg/ddn256

By:

Royer-Zemmour, Barbara;
Ponsole-Lenfant, Magali;
Gara, Hyam;
Roll, Patrice;
Lévêque, Christian;
Massacrier, Annick;
Ferracci, Géraldine;
Cillario, Jennifer;
Robaglia-Schlupp, Andrée;
Vincentelli, Renaud;
Cau, Pierre;
Szepetowski, Pierre

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2008, v. 17, n. 23, p. NP, doi. 10.1093/hmg/ddn366
Publication type:: Article

Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 23, p. 3631, doi. 10.1093/hmg/ddn257

By:

Rademakers, Rosa;
Eriksen, Jason L.;
Baker, Matt;
Robinson, Todd;
Ahmed, Zeshan;
Lincoln, Sarah J.;
Finch, Nicole;
Rutherford, Nicola J.;
Crook, Richard J.;
Josephs, Keith A.;
Boeve, Bradley F.;
Knopman, David S.;
Petersen, Ronald C.;
Parisi, Joseph E.;
Caselli, Richard J.;
Wszolek, Zbigniew K.;
Uitti, Ryan J.;
Feldman, Howard;
Hutton, Michael L.;
Mackenzie, Ian R.

Publication type:

Article

Genetic and physical interaction between the NPHP5 and NPHP6 gene products.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 23, p. 3655, doi. 10.1093/hmg/ddn260

By:

Schäfer, Tobias;
Pütz, Michael;
Lienkamp, Soeren;
Ganner, Athina;
Bergbreiter, Astrid;
Ramachandran, Haribaskar;
Gieloff, Verena;
Gerner, Martin;
Mattonet, Christian;
Czarnecki, Peter G.;
Sayer, John A.;
Otto, Edgar A.;
Hildebrandt, Friedhelm;
Kramer-Zucker, Albrecht;
Walz, Gerd

Publication type:

Article

Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 23, p. 3822, doi. 10.1093/hmg/ddn280

By:

Hakonen, Anna H.;
Goffart, Steffi;
Marjavaara, Sanna;
Paetau, Anders;
Cooper, Helen;
Mattila, Kimmo;
Lampinen, Milla;
Sajantila, Antti;
Lönnqvist, Tuula;
Spelbrink, Johannes N.;
Suomalainen, Anu

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2008, v. 17, n. 23, p. NP, doi. 10.1093/hmg/ddn367
Publication type:: Article

Akt activation prevents the force drop induced by eccentric contractions in dystrophin-deficient skeletal muscle.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 23, p. 3686, doi. 10.1093/hmg/ddn264

By:

Blaauw, Bert;
Mammucari, Cristina;
Toniolo, Luana;
Agatea, Lisa;
Abraham, Reimar;
Sandri, Marco;
Reggiani, Carlo;
Schiaffino, Stefano

Publication type:

Article

Gene–environment interactions in the causation of neural tube defects: folate deficiency increases susceptibility conferred by loss of Pax3 function.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 23, p. 3675, doi. 10.1093/hmg/ddn262

By:

Burren, Katie A.;
Savery, Dawn;
Massa, Valentina;
Kok, Robert M.;
Scott, John M.;
Blom, Henk J.;
Copp, Andrew J.;
Greene, Nicholas D.E.

Publication type:

Article

Identification of Arx transcriptional targets in the developing basal forebrain.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 23, p. 3740, doi. 10.1093/hmg/ddn271

By:

Fulp, Carl T.;
Cho, Ginam;
Marsh, Eric D.;
Nasrallah, Ilya M.;
Labosky, Patricia A.;
Golden, Jeffrey A.

Publication type:

Article

Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith–Lemli–Opitz syndrome.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 23, p. 3806, doi. 10.1093/hmg/ddn278

By:

Lindegaard, Marie L.;
Wassif, Christopher A.;
Vaisman, Boris;
Amar, Marcelo;
Wasmuth, Elizabeth V.;
Shamburek, Robert;
Nielsen, Lars B.;
Remaley, Alan T.;
Porter, Forbes D.

Publication type:

Article

Mutation of HAIRY-AND-ENHANCER-OF-SPLIT-7 in humans causes spondylocostal dysostosis.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 23, p. 3761, doi. 10.1093/hmg/ddn272

By:

Sparrow, Duncan B.;
Guillén-Navarro, Encarna;
Fatkin, Diane;
Dunwoodie, Sally L.

Publication type:

Article

Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 23, p. 3814, doi. 10.1093/hmg/ddn279

By:

Heidrych, Paulina;
Zimmermann, Ulrike;
Breß, Andreas;
Pusch, Carsten M.;
Ruth, Peter;
Pfister, Markus;
Knipper, Marlies;
Blin, Nikolaus

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2008, v. 17, n. 23, p. NP, doi. 10.1093/hmg/ddn364
Publication type:: Article

Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 23, p. 3720

By:

Pittman, Alan M.;
Webb, Emily;
Carvajal-Carmona, Luis;
Howarth, Kimberley;
Di Bernardo, Maria Chiara;
Broderick, Peter;
Spain, Sarah;
Walther, Axel;
Price, Amy;
Sullivan, Kate;
Twiss, Philip;
Fielding, Sarah;
Rowan, Andrew;
Jaeger, Emma;
Vijayakrishnan, Jayaram;
Chandler, Ian;
Penegar, Steven;
Qureshi, Mobshra;
Lubbe, Steven;
Domingo, Enric

Publication type:

Article

Inhibition of specific HDACs and sirtuins suppresses pathogenesis in a Drosophila model of Huntington’s disease.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 23, p. 3767, doi. 10.1093/hmg/ddn273

By:

Pallos, Judit;
Bodai, Laszlo;
Lukacsovich, Tamas;
Purcell, Judith M.;
Steffan, Joan S.;
Thompson, Leslie Michels;
Marsh, J. Lawrence

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2008, v. 17, n. 23, p. NP, doi. 10.1093/hmg/ddn365
Publication type:: Article

Novel suppressors of α-synuclein toxicity identified using yeast.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 23, p. 3784, doi. 10.1093/hmg/ddn276

By:

Liang, Jun;
Clark-Dixon, Cheryl;
Wang, Shaoxiao;
Flower, Todd R.;
Williams-Hart, Tara;
Zweig, Richard;
Robinson, Lucy C.;
Tatchell, Kelly;
Witt, Stephan N.

Publication type:

Article

Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 23, p. 3728, doi. 10.1093/hmg/ddn269

By:

Duarri, Anna;
Teijido, Oscar;
López-Hernández, Tania;
Scheper, Gert C.;
Barriere, Herve;
Boor, Ilja;
Aguado, Fernando;
Zorzano, Antonio;
Palacín, Manuel;
Martínez, Albert;
Lukacs, Gergely L.;
van der Knaap, Marjo S.;
Nunes, Virginia;
Estévez, Raúl

Publication type:

Article