Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 7

Results: 23

Identification of novel genes for glucose metabolism based upon expression pattern in human islets and effect on insulin secretion and glycemia.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 7, p. 1945, doi. 10.1093/hmg/ddu610

By:

Taneera, Jalal;
Fadista, Joao;
Ahlqvist, Emma;
Atac, David;
Ottosson-Laakso, Emilia;
Wollheim, Claes B.;
Groop, Leif

Publication type:

Article

Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 7, p. 1908, doi. 10.1093/hmg/ddu607

By:

Masica, David L.;
Sosnay, Patrick R.;
Raraigh, Karen S.;
Cutting, Garry R.;
Karchin, Rachel

Publication type:

Article

OXPHOS dysfunction regulates integrin-β1 modifications and enhances cell motility and migration.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 7, p. 1977, doi. 10.1093/hmg/ddu612

By:

Nunes, Joana B.;
Peixoto, Joana;
Soares, Paula;
Maximo, Valdemar;
Carvalho, Sandra;
Pinho, Salome S.;
Vieira, Andre F.;
Paredes, Joana;
Rego, Ana C.;
Ferreira, Ildete L.;
Gomez-Lazaro, Maria;
Sobrinho-Simoes, Manuel;
Singh, Keshav K.;
Lima, Jorge

Publication type:

Article

Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 7, p. 1956, doi. 10.1093/hmg/ddu611

By:

Myklebust, Line M.;
Van Damme, Petra;
Støve, Svein I.;
Dörfel, Max J.;
Abboud, Angèle;
Kalvik, Thomas V.;
Grauffel, Cedric;
Jonckheere, Veronique;
Yiyang Wu;
Swensen, Jeffrey;
Kaasa, Hanna;
Liszczak, Glen;
Marmorstein, Ronen;
Reuter, Nathalie;
Lyon, Gholson J.;
Gevaert, Kris;
Arnesen, Thomas

Publication type:

Article

The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 7, p. 2096, doi. 10.1093/hmg/ddu728

By:

Vadrot, Nathalie;
Duband-Goulet, Isabelle;
Cabet, Eva;
Wikayatou Attanda;
Barateau, Alice;
Vicart, Patrick;
Gerbal, Fabien;
Briand, Nolwenn;
Vigouroux, Corinne;
Oldenburg, Anja R.;
Lund, Eivind G.;
Collas, Philippe;
Buendia, Brigitte

Publication type:

Article

Biochemical, histological and functional correction of mucopolysaccharidosis Type IIIB by intra-cerebrospinal fluid gene therapy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 7, p. 2078, doi. 10.1093/hmg/ddu727

By:

Ribera, Albert;
Haurigot, Virginia;
Garcia, Miguel;
Marcó, Sara;
Motas, Sandra;
Villacampa, Pilar;
Maggioni, Luca;
León, Xavier;
Molas, Maria;
Sánchez, Víctor;
Muñoz, Sergio;
Leborgne, Christian;
Moll, Xavier;
Pumarola, Martí;
Mingozzi, Federico;
Ruberte, Jesús;
Añor, Sònia;
Bosch, Fatima

Publication type:

Article

Temporally distinct phosphorylations differentiate Tau-dependent learning deficits and premature mortality in Drosophila.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 7, p. 2065, doi. 10.1093/hmg/ddu726

By:

Papanikolopoulou, Katerina;
Skoulakis, Efthimios M. C.

Publication type:

Article

Transgenic replacement of Cx32 in gap junction-deficient oligodendrocytes rescues the phenotype of a hypomyelinating leukodystrophy model.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 7, p. 2049, doi. 10.1093/hmg/ddu725

By:

Schiza, Natasa;
Sargiannidou, Irene;
Kagiava, Alexia;
Karaiskos, Christos;
Nearchou, Marianna;
Kleopa, Kleopas A.

Publication type:

Article

TWEAK/Fn14, a pathway and novel therapeutic target in myotonic dystrophy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 7, p. 2035, doi. 10.1093/hmg/ddu617

By:

Yadava, Ramesh S.;
Foff, Erin P.;
Qing Yu;
Gladman, Jordan T.;
Kim, Yun K.;
Bhatt, Kirti S.;
Thornton, Charles A.;
Zheng, Timothy S.;
Mahadevan, Mani S.

Publication type:

Article

Mendelian genes for Parkinson's disease contribute to the sporadic forms of the disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 7, p. 2023, doi. 10.1093/hmg/ddu616

By:

Spataro, Nino;
Calafell, Francesc;
Cervera-Carles, Laura;
Casals, Ferran;
Pagonabarraga, Javier;
Pascual-Sedano, Berta;
Campolongo, Antònia;
Kulisevsky, Jaime;
Lleó, Alberto;
Navarro, Arcadi;
Clarimón, Jordi;
Bosch, Elena

Publication type:

Article

Sarcospan integration into laminin-binding adhesion complexes that ameliorate muscular dystrophy requires utrophin and α7 integrin.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 7, p. 2011, doi. 10.1093/hmg/ddu615

By:

Marshall, Jamie L.;
Oh, Jennifer;
Chou, Eric;
Lee, Joy A.;
Holmberg, Johan;
Burkin, Dean J.;
Crosbie-Watson, Rachelle H.

Publication type:

Article

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 7, p. 2000, doi. 10.1093/hmg/ddu614

By:

Kumar, Raman;
Corbett, Mark A.;
Smith, Nicholas J. C.;
Jolly, Lachlan A.;
Tan, Chuan;
Keating, Damien J.;
Duffield, Michael D.;
Utsumi, Toshihiko;
Moriya, Koko;
Smith, Katherine R.;
Hoischen, Alexander;
Abbott, Kim;
Harbord, Michael G.;
Compton, Alison G.;
Woenig, Joshua A.;
Arts, Peer;
Kwint, Michael;
Wieskamp, Nienke;
Gijsen, Sabine;
Veltman, Joris A.

Publication type:

Article

A mouse model of urofacial syndrome with dysfunctional urination.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 7, p. 1991, doi. 10.1093/hmg/ddu613

By:

Chunming Guo;
Satoshi Kaneko;
Ye Sun;
Yichen Huang;
Vlodavsky, Israel;
Xiaokun Li;
Zhong-Rong Li;
Xue Li

Publication type:

Article

A novel manganese-dependent ATM-p53 signaling pathway is selectively impaired in patient-based neuroprogenitor and murine striatal models of Huntington's disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 7, p. 1929, doi. 10.1093/hmg/ddu609

By:

Tidball, Andrew M.;
Bryan, Miles R.;
Uhouse, Michael A.;
Kumar, Kevin K.;
Aboud, Asad A.;
Feist, Jack E.;
Ess, Kevin C.;
Neely, M. Diana;
Aschner, Michael;
Bowman, Aaron B.

Publication type:

Article

α-Synuclein modifies mutant huntingtin aggregation and neurotoxicity in Drosophila.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 7, p. 1898, doi. 10.1093/hmg/ddu606

By:

Poças, Gonçalo M.;
Branco-Santos, Joana;
Herrera, Federico;
Outeiro, Tiago Fleming;
Domingos, Pedro M.

Publication type:

Article

A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 7, p. 1883, doi. 10.1093/hmg/ddu605

By:

Joyce, Peter I.;
Mcgoldrick, Philip;
Saccon, Rachele A.;
Weber, William;
Fratta, Pietro;
West, Steven J.;
Ning Zhu;
Carter, Sarah;
Phatak, Vinaya;
Stewart, Michelle;
Simon, Michelle;
Kumar, Saumya;
Heise, Ines;
Bros-Face, Virginie;
Dick, James;
Corrochano, Silvia;
Stanford, Macdonnell J.;
Tu Vinh Luong;
Nolan, Patrick M.;
Meyer, Timothy

Publication type:

Article

HSP47 and FKBP65 cooperate in the synthesis of type I procollagen.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 7, p. 1918, doi. 10.1093/hmg/ddu608

By:

Duran, Ivan;
Nevarez, Lisette;
Sarukhanov, Anna;
Wu, Sulin;
Lee, Katrina;
Krejci, Pavel;
Weis, Maryann;
Eyre, David;
Krakow, Deborah;
Cohn, Daniel H.

Publication type:

Article

A defect in earlymyogenesis causes Otitis media in two mouse models of 22q11.2 Deletion Syndrome.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 7, p. 1869, doi. 10.1093/hmg/ddu604

By:

Fuchs, Jennifer C.;
Linden, Jennifer F.;
Baldini, Antonio;
Tucker, Abigail S.

Publication type:

Article

Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III).

Published in:

Human Molecular Genetics, 2015, v. 24, n. 7, p. 1856, doi. 10.1093/hmg/ddu603

By:

Kowalewski, Björn;
Heimann, Peter;
Ortkras, Theresa;
Lüllmann-Rauch, Renate;
Sawada, Tomo;
Walkley, Steven U.;
Dierks, Thomas;
Damme, Markus

Publication type:

Article

SEPN1, an endoplasmic reticulum-localized selenoprotein linked to skeletal muscle pathology, counteracts hyperoxidation by means of redox-regulating SERCA2 pump activity.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 7, p. 1843, doi. 10.1093/hmg/ddu602

By:

Marino, Marianna;
Stoilova, Tatiana;
Giorgi, Carlotta;
Bachi, Angela;
Cattaneo, Angela;
Auricchio, Alberto;
Pinton, Paolo;
Zito, Ester

Publication type:

Article

A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 7, p. 1836, doi. 10.1093/hmg/ddu597

By:

Tyburczy, Magdalena E.;
Jozwiak, Sergiusz;
Malinowska, Izabela A.;
Chekaluk, Yvonne;
Pugh, Trevor J.;
Chin-Lee Wu;
Nussbaum, Robert L.;
Seepo, Sara;
Dzik, Tomasz;
Kotulska, Katarzyna;
Kwiatkowski, David J.

Publication type:

Article

ATRX promotes gene expression by facilitating transcriptional elongation through guanine-rich coding regions.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 7, p. 1824, doi. 10.1093/hmg/ddu596

By:

Levy, Michael A.;
Kernohan, Kristin D.;
Yan Jiang;
Bérubé, Nathalie G.

Publication type:

Article

Fragile X-like behaviors and abnormal cortical dendritic spines Cytoplasmic FMR1-interacting protein 2-mutant mice.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 7, p. 1813, doi. 10.1093/hmg/ddu595

By:

Kihoon Han;
Hogmei Chen;
Gennarino, Vincenzo A.;
Richman, Ronald;
Hui-Chen Lu;
Zoghbi, Huda Y.

Publication type:

Article