Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 10

Results: 25

Messenger RNA processing is altered in autosomal dominant leukodystrophy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 10, p. 2746, doi. 10.1093/hmg/ddv034

By:

Bartoletti-Stella, Anna;
Gasparini, Laura;
Giacomini, Caterina;
Corrado, Patrizia;
Terlizzi, Rossana;
Giorgio, Elisa;
Magini, Pamela;
Seri, Marco;
Baruzzi, Agostino;
Parchi, Piero;
Brusco, Alfredo;
Cortelli, Pietro;
Capellari, Sabina

Publication type:

Article

Decreased TCF7L2 protein levels in type 2 diabetes mellitus correlate with downregulation of GIP- and GLP-1 receptors and impaired beta-cell function.

Published in:: Human Molecular Genetics, 2015, v. 24, n. 10, p. 3004, doi. 10.1093/hmg/ddv075
Publication type:: Article

Parkin-mediated mitophagy in mutant hAPP neurons and Alzheimer's disease patient brains.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 10, p. 2938, doi. 10.1093/hmg/ddv056

By:

Xuan Ye;
Xiaqin Sun;
Starovoytov, Valentin;
Qian Cai

Publication type:

Article

Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastricneuroendocrine tumour.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 10, p. 2914, doi. 10.1093/hmg/ddv054

By:

Calvete, Oriol;
Reyes, Jose;
Zuñiga, Sheila;
Paumard-Hernández, Beatriz;
Fernández, Victoria;
Bujanda, Luís;
Rodriguez-Pinilla, María S.;
Palacios, Jose;
Heine-Suñer, Damian;
Banka, Siddharth;
Newman, William G.;
Cañamero, Marta;
Pritchard, D. Mark;
Benítez, Javier

Publication type:

Article

Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 10, p. 2861, doi. 10.1093/hmg/ddv046

By:

Brookes, Emily;
Laurent, Benoit;
Õunap, Katrin;
Carroll, Renee;
Moeschler, John B.;
Field, Michael;
Schwartz, Charles E.;
Gecz, Jozef;
Yang Shi

Publication type:

Article

Mitochondrial complex I deficiency leads to inflammation and retinal ganglion cell death in the Ndufs4 mouse.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 10, p. 2848, doi. 10.1093/hmg/ddv045

By:

Yu, Alfred K.;
Lanying Song;
Murray, Karl D.;
van der List, Deborah;
Chao Sun;
Yan Shen;
Zhengui Xia;
Cortopassi, Gino A.

Publication type:

Article

Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 10, p. 2952, doi. 10.1093/hmg/ddv058

By:

Formosa, Luke E.;
Masakazu Mimaki;
Frazier, Ann E.;
McKenzie, Matthew;
Stait, Tegan L.;
Thorburn, David R.;
Stroud, David A.;
Ryan, Michael T.

Publication type:

Article

A cis-eQTL in PFKFB2 is associated with diabetic nephropathy, adiposity and insulin secretion in American Indians.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 10, p. 2985, doi. 10.1093/hmg/ddv040

By:

Muller, Yunhua L.;
Piaggi, Paolo;
Hanson, Robert L.;
Kobes, Sayuko;
Bhutta, Shujera;
Abdussamad, Maryam;
Leak-Johnson, Tennille;
Kretzler, Matthias;
Ke Huang;
Weil, E. Jennifer;
Nelson, Robert G.;
Knowler, William C.;
Bogardus, Clifton;
Baier, Leslie J.

Publication type:

Article

The role of Notch signaling in muscle progenitor cell depletion and the rapid onset of histopathology in muscular dystrophy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 10, p. 2923, doi. 10.1093/hmg/ddv055

By:

Xiaodong Mu;
Ying Tang;
Aiping Lu;
Koji Takayama;
Usas, Arvydas;
Bing Wang;
Weiss, Kurt;
Huard, Johnny

Publication type:

Article

XIAP and cIAP1 amplifications induce Beclin 1-dependent autophagy through NFκB activation.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 10, p. 2899, doi. 10.1093/hmg/ddv052

By:

Fang Lin;
Ghislat, Ghita;
Shouqing Luo;
Renna, Maurizio;
Siddiqi, Farah;
Rubinsztein, David C.

Publication type:

Article

Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 10, p. 2771, doi. 10.1093/hmg/ddv038

By:

Dupuis, Nina;
Fafouri, Assia;
Bayot, Aurélien;
Kumar, Manoj;
Lecharpentier, Tifenn;
Ball, Gareth;
Edwards, David;
Bernard, Véronique;
Dournaud, Pascal;
Drunat, Séverine;
Vermelle-Andrzejewski, Marie;
Vilain, Catheline;
Abramowicz, Marc;
Désir, Julie;
Bonaventure, Jacky;
Gareil, Nelly;
Boncompain, Gaelle;
Csaba, Zsolt;
Perez, Franck;
Passemard, Sandrine

Publication type:

Article

Population variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 10, p. 2997, doi. 10.1093/hmg/ddv051

By:

Kapoor, Ashish;
Qian Jiang;
Chatterjee, Sumantra;
Chakraborty, Prakash;
Sosa, Maria X.;
Berrios, Courtney;
Chakravarti, Aravinda

Publication type:

Article

MBTPS1/SKI-1/S1P proprotein convertase is required for ECM signaling and axial elongation during somitogenesis and vertebral development.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 10, p. 2884, doi. 10.1093/hmg/ddv050

By:

Achilleos, Annita;
Huffman, Nichole T.;
Marcinkiewicyz, Edwidge;
Seidah, Nabil G.;
Qian Chen;
Dallas, Sarah L.;
Trainor, Paul A.;
Gorski, Jeff P.

Publication type:

Article

The E3 ubiquitin ligase TRIM32 regulates myoblast proliferation by controlling turnover of NDRG2.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 10, p. 2873, doi. 10.1093/hmg/ddv049

By:

Mokhonova, Ekaterina I.;
Avliyakulov, Nuraly K.;
Kramerova, Irina;
Kudryashova, Elena;
Haykinson, Michael J.;
Spencer, Melissa J.

Publication type:

Article

The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 10, p. 2764, doi. 10.1093/hmg/ddv037

By:

Aubart, Mélodie;
Gross, Marie-Sylvie;
Hanna, Nadine;
Zabot, Marie-Thérèse;
Sznajder, Marc;
Detaint, Delphine;
Gouya, Laurent;
Jondeau, Guillaume;
Boileau, Catherine;
Stheneur, Chantal

Publication type:

Article

Glycosylation of rhodopsin is necessary for its stability and incorporation into photoreceptor outer segment discs.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 10, p. 2709, doi. 10.1093/hmg/ddv031

By:

Murray, Anne R.;
Vuong, Linda;
Brobst, Daniel;
Fliesler, Steven J.;
Peachey, Neal S.;
Gorbatyuk, Marina S.;
Naash, Muna I.;
Al-Ubaidi, Muayyad R.

Publication type:

Article

The 3' addition of CCA to mitochondrial tRNA<sup>Ser(AGY)</sup> is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 10, p. 2841, doi. 10.1093/hmg/ddv044

By:

Sasarman, Florin;
Thiffault, Isabelle;
Weraarpachai, Woranontee;
Salomon, Steven;
Maftei, Catalina;
Gauthier, Julie;
Ellazam, Benjamin;
Webb, Neil;
Antonicka, Hana;
Janer, Alexandre;
Brunel-Guitton, Catherine;
Elpeleg, Orly;
Mitchell, Grant;
Shoubridge, Eric A.

Publication type:

Article

Mice that express farnesylated versions of prelamin A in neurons develop achalasia.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 10, p. 2826, doi. 10.1093/hmg/ddv043

By:

Shao H. Yang;
Procaccia, Shiri;
Hea-Jin Jung;
Chika Nobumori;
Tatar, Angelica;
Yiping Tu;
Bayguinov, Yulia R.;
Sung Jin Hwang;
Tran, Deanna;
Ward, Sean M.;
Fong, Loren G.;
Young, Stephen G.

Publication type:

Article

Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 10, p. 2808, doi. 10.1093/hmg/ddv042

By:

Cunningham, David;
DeBarber, Andrea E.;
Bir, Natalie;
Binkley, Laura;
Merkens, Louise S.;
Steiner, Robert D.;
Herman, Gail E.

Publication type:

Article

Ganglioside GM3 is essential for the structural integrity and function of cochlear hair cells.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 10, p. 2796, doi. 10.1093/hmg/ddv041

By:

Misato Yoshikawa;
Shinji Go;
Shun-ichi Suzuki;
Akemi Suzuki;
Yukio Katori;
Morlet, Thierry;
Gottlieb, Steven M.;
Michihiro Fujiwara;
Katsunori Iwasaki;
Strauss, Kevin A.;
Jin-ichi Inokuchi

Publication type:

Article

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 10, p. 2757, doi. 10.1093/hmg/ddv036

By:

Le Scouarnec, Solena;
Karakachoff, Matilde;
Gourraud, Jean-Baptiste;
Lindenbaum, Pierre;
Bonnaud, Stéphanie;
Portero, Vincent;
Duboscq-Bidot, Laëtitia;
Daumy, Xavier;
Simonet, Floriane;
Teusan, Raluca;
Baron, Estelle;
Violleau, Jade;
Persyn, Elodie;
Bellanger, Lise;
Barc, Julien;
Chatel, Stéphanie;
Martins, Raphaël;
Mabo, Philippe;
Sacher, Frédéric;
Haïssaguerre, Michel

Publication type:

Article

Transcription-coupled RNA surveillance in human genetic diseases caused by splice site mutations.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 10, p. 2784, doi. 10.1093/hmg/ddv039

By:

Vaz-Drago, Rita;
Pinheiro, Marco T.;
Martins, Sandra;
Enguita, Francisco J.;
Carmo-Fonseca, Maria;
Custódio, Noélia

Publication type:

Article

Mosaic structural variation in children with developmental disorders.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 10, p. 2733, doi. 10.1093/hmg/ddv033

By:

King, Daniel A.;
Jones, Wendy D.;
Crow, Yanick J.;
Dominiczak, Anna F.;
Foster, Nicola A.;
Gaunt, Tom R.;
Harris, Jade;
Hellens, Stephen W.;
Homfray, Tessa;
Innes, Josie;
Jones, Elizabeth A.;
Joss, Shelagh;
Kulkarni, Abhijit;
Mansour, Sahar;
Morris, Andrew D.;
Parker, Michael J.;
Porteous, David J.;
Shihab, Hashem A.;
Smith, Blair H.;
Tatton-Brown, Katrina

Publication type:

Article

CHD6 regulates the topological arrangement of the CFTR locus.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 10, p. 2724, doi. 10.1093/hmg/ddv032

By:

Sancho, Ana;
SiDe Li;
Paul, Thankam;
Fan Zhang;
Aguilo, Francesca;
Vashisht, Ajay;
Balasubramaniyan, Natarajan;
Leleiko, Neal S.;
Suchy, Frederick J.;
Wohlschlegel, James A.;
Weijia Zhang;
Walsh, Martin J.

Publication type:

Article

Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 10, p. 2966, doi. 10.1093/hmg/ddv035

By:

Orr, Nick;
Dudbridge, Frank;
Dryden, Nicola;
Maguire, Sarah;
Novo, Daniela;
Perrakis, Eleni;
Johnson, Nichola;
Ghoussaini, Maya;
Hopper, John L.;
Southey, Melissa C.;
Apicella, Carmel;
Stone, Jennifer;
Schmidt, Marjanka K.;
Broeks, Annegien;
Van''t Veer, Laura J.;
Hogervorst, Frans B.;
Fasching, Peter A.;
Haeberle, Lothar;
Ekici, Arif B.;
Beckmann, Matthias W.

Publication type:

Article