Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 4

Results: 29

Depletion of p62 reduces nuclear inclusions and paradoxically ameliorates disease phenotypes in Huntington’s model mice.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. 1092, doi. 10.1093/hmg/ddu522
By:
- Masaru Kurosawa;
- Gen Matsumoto;
- Yoshihiro Kino;
- Misako Okuno;
- Mizuki Kurosawa-Yamada;
- Chika Washizu;
- Harumi Taniguchi;
- Kazuhiro Nakaso;
- Toru Yanagawa;
- Eiji Warabi;
- Tomomi Shimogori;
- Takashi Sakurai;
- Nobutaka Hattori;
- Nobuyuki Nukina
Publication type:
Article
PINK1 positively regulates HDAC3 to suppress dopaminergic neuronal cell death.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. 1127, doi. 10.1093/hmg/ddu526
By:
- Hyo-Kyoung Choi;
- Youngsok Choi;
- HeeBum Kang;
- Eun-jin Lim;
- Soo-Yeon Park;
- Hyun-Seob Lee;
- Ji-Min Park;
- Jisook Moon;
- Yoon-Jung Kim;
- Insup Choi;
- Eun-Hye Joe;
- Kyung-Chul Choi;
- Ho-Geun Yoon
Publication type:
Article
A fly model for the CCUG-repeat expansion of myotonic dystrophy type 2 reveals a novel interaction with MBNL1.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. 954, doi. 10.1093/hmg/ddu507
By:
- Zhenming Yu;
- Goodman, Lindsey D.;
- Shin-Yi Shieh;
- Min, Michelle;
- Xiuyin Teng;
- Yongqing Zhu;
- Bonini, Nancy M.
Publication type:
Article
Hippocampal synaptic connectivity in phenylketonuria.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. 1007, doi. 10.1093/hmg/ddu515
By:
- Horling, Katja;
- Schlegel, Gudrun;
- Schulz, Sarah;
- Vierk, Ricardo;
- Ullrich, Kurt;
- Santer, René;
- Rune, Gabriele M.
Publication type:
Article
CFTR mRNA expression is regulated by an upstream open reading frame and RNA secondary structure in its 5′ untranslated region.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. 899, doi. 10.1093/hmg/ddu501
By:
- Lukowski, Samuel W.;
- Rothnagel, Joseph A.;
- Trezise, Ann E. O.
Publication type:
Article
Activating PIK3CA alleles and lymphangiogenic phenotype of lymphatic endothelial cells isolated from lymphatic malformations.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. 926, doi. 10.1093/hmg/ddu505
By:
- Osborn, Alexander J.;
- Dickie, Peter;
- Neilson, Derek E.;
- Glaser, Kathryn;
- Lynch, Kaari A.;
- Gupta, Anita;
- Dickie, Belinda Hsi
Publication type:
Article
OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. 994, doi. 10.1093/hmg/ddu514
By:
- Montjean, Rodrick;
- Aoidi, Rifdat;
- Desbois, Pierrette;
- Rucci, Julien;
- Trichet, Michaël;
- Salomon, Rémi;
- Rendu, John;
- Fauré, Julien;
- Lunardi, Joël;
- Gacon, Gérard;
- Billuart, Pierre;
- Dorseuil, Olivier
Publication type:
Article
Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. 1142, doi. 10.1093/hmg/ddu531
By:
- Mallet, Christine;
- Lamribet, Khadija;
- Giraud, Sophie;
- Dupuis-Girod, Sophie;
- Feige, Jean-Jacques;
- Bailly, Sabine;
- Tillet, Emmanuelle
Publication type:
Article
DNA replication-dependent induction of gene proximity by androgen.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. 963, doi. 10.1093/hmg/ddu508
By:
- Coll-Bastus, Nuria;
- Xueying Mao;
- Young, Bryan D.;
- Sheer, Denise;
- Yong-Jie Lu
Publication type:
Article
A new split-GFP-based probe reveals DJ-1 translocation into the mitochondrial matrix to sustain ATP synthesis upon nutrient deprivation.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. 1045, doi. 10.1093/hmg/ddu519
By:
- Calì, Tito;
- Ottolini, Denis;
- Soriano, Maria Eugenia;
- Brini, Marisa
Publication type:
Article
Direct and indirect mechanisms for wild-type SOD1 to enhance the toxicity of mutant SOD1 in bigenic transgenic mice.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. 1019, doi. 10.1093/hmg/ddu517
By:
- Xu, Guilian;
- Ayers, Jacob I.;
- Roberts, Brittany L.;
- Brown, Hilda;
- Fromholt, Susan;
- Green, Cameron;
- Borchelt, David R.
Publication type:
Article
CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. 987, doi. 10.1093/hmg/ddu513
By:
- Groen, Justus L.;
- Andrade, Arturo;
- Ritz, Katja;
- Jalalzadeh, Hamid;
- Haagmans, Martin;
- Bradley, Ted E. J.;
- Jongejan, Aldo;
- Verbeek, Dineke S.;
- Nürnberg, Peter;
- Denome, Sylvia;
- Hennekam, Raoul C. M.;
- Lipscombe, Diane;
- Baas, Frank;
- Tijssen, Marina A. J.
Publication type:
Article
Multi-stage genome-wide association study identifies new susceptibility locus for testicular germ cell tumour on chromosome 3q25.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. 1169, doi. 10.1093/hmg/ddu511
By:
- Litchfield, Kevin;
- Sultana, Razvan;
- Renwick, Anthony;
- Dudakia, Darshna;
- Seal, Sheila;
- Ramsay, Emma;
- Powell, Silvana;
- Elliott, Anna;
- Warren-Perry, Margaret;
- Eeles, Rosalind;
- Peto, Julian;
- Kote-Jarai, Zsofia;
- Muir, Kenneth;
- Nsengimana, Jeremie;
- Stratton, Michael R.;
- Easton, Douglas F.;
- Bishop, D. Timothy;
- Huddart, Robert A.;
- Rahman, Nazneen;
- Turnbull, Clare
Publication type:
Article
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. 1106, doi. 10.1093/hmg/ddu523
By:
- Ramos-Brossier, Mariana;
- Montani, Caterina;
- Lebrun, Nicolas;
- Gritti, Laura;
- Martin, Christelle;
- Seminatore-Nole, Christine;
- Toussaint, Aurelie;
- Moreno, Sarah;
- Poirier, Karine;
- Dorseuil, Olivier;
- Chelly, Jamel;
- Hackett, Anna;
- Gecz, Jozef;
- Bieth, Eric;
- Faudet, Anne;
- Heron, Delphine;
- Kooy, R. Frank;
- Loeys, Bart;
- Humeau, Yann;
- Sala, Carlo
Publication type:
Article
Identification of two novel mutations in FAM136A and DTNA genes in autosomal-dominant familial Meniere’s disease.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. 1119, doi. 10.1093/hmg/ddu524
By:
- Requena, Teresa;
- Cabrera, Sonia;
- Martín-Sierra, Carmen;
- Price, Steven D.;
- Lysakowski, Anna;
- Lopez-Escamez, José A.
Publication type:
Article
Genome-wide association study identified SNP on 15q24 associated with bladder cancer risk in Japanese population.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. 1177, doi. 10.1093/hmg/ddu512
By:
- Koichi Matsuda;
- Atsushi Takahashi;
- Middlebrooks, Candace D.;
- Wataru Obara;
- Yasutomo Nasu;
- Keiji Inoue;
- Kenji Tamura;
- Ichiro Yamasaki;
- Yoshio Naya;
- Chizu Tanikawa;
- Ri Cui;
- Figueroa, Jonine D.;
- Silverman, Debra T.;
- Rothman, Nathaniel;
- Mikio Namiki;
- Yoshihiko Tomita;
- Hiroyuki Nishiyama;
- Kenjiro Kohri;
- Takashi Deguchi;
- Masayuki Nakagawa
Publication type:
Article
Comparative study of naturally occurring huntingtin fragments in Drosophila points to exon 1 as the most pathogenic species in Huntington’s disease.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. 913, doi. 10.1093/hmg/ddu504
By:
- Barbaro, Brett A.;
- Lukacsovich, Tamas;
- Agrawal, Namita;
- Burke, John;
- Bornemann, Doug J.;
- Purcell, Judith M.;
- Worthge, Shane A.;
- Caricasole, Andrea;
- Weiss, Andreas;
- Song, Wan;
- Morozova, Olga A.;
- Colby, David W.;
- Marsh, J. Lawrence
Publication type:
Article
Genetic control of gene expression at novel and established chronic obstructive pulmonary disease loci.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. 1200, doi. 10.1093/hmg/ddu525
By:
- Castaldi, Peter J.;
- Cho, Michael H.;
- Zhou, Xiaobo;
- Qiu, Weiliang;
- Mcgeachie, Michael;
- Celli, Bartolome;
- Bakke, Per;
- Gulsvik, Amund;
- Lomas, David A.;
- Crapo, James D.;
- Beaty, Terri H.;
- Rennard, Stephen;
- Harshfield, Benjamin;
- Lange, Christoph;
- Singh, Dave;
- Tal-Singer, Ruth;
- Riley, John H.;
- Quackenbush, John;
- Raby, Benjamin A.;
- Carey, Vincent J.
Publication type:
Article
Deletion of OTX2 in neural ectoderm delays anterior pituitary development.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. 939, doi. 10.1093/hmg/ddu506
By:
- Mortensen, Amanda H.;
- Schade, Vanessa;
- Lamonerie, Thomas;
- Camper, Sally A.
Publication type:
Article
Rab11 modulates α-synuclein-mediated defects in synaptic transmission and behaviour.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. 1077, doi. 10.1093/hmg/ddu521
By:
- Breda, Carlo;
- Nugent, Marie L.;
- Estranero, Jasper G.;
- Kyriacou, Charalambos P.;
- Outeiro, Tiago F.;
- Steinert, Joern R.;
- Giorgini, Flaviano
Publication type:
Article
Mitochondrial m.1584A 12S m<sup>6</sup><sub>2</sub>A rRNA methylation in families with m.1555A>G associated hearing loss.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. 1036, doi. 10.1093/hmg/ddu518
By:
- O’Sullivan, Mary;
- Rutland, Paul;
- Lucas, Deirdre;
- Ashton, Emma;
- Hendricks, Sebastian;
- Rahman, Shamima;
- Bitner-Glindzicz, Maria
Publication type:
Article
Potentiation of neurotoxicity in double-mutant mice with Pink1 ablation and A53T-SNCA overexpression.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. 1061, doi. 10.1093/hmg/ddu520
By:
- Gispert, Suzana;
- Brehm, Nadine;
- Weil, Jonas;
- Seidel, Kay;
- Rüb, Udo;
- Kern, Beatrice;
- Walter, Michael;
- Roeper, Jochen;
- Auburger, Georg
Publication type:
Article
Genome-wide enrichment analysis between endometriosis and obesity-related traits reveals novel susceptibility loci.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. 1185, doi. 10.1093/hmg/ddu516
By:
- Rahmioglu, Nilufer;
- Macgregor, Stuart;
- Drong, Alexander W.;
- Hedman, Åsa K.;
- Harris, Holly R.;
- Randall, Joshua C.;
- Prokopenko, Inga;
- Nyholt, Dale R.;
- Morris, Andrew P.;
- Montgomery, Grant W.;
- Missmer, Stacey A.;
- Lindgren, Cecilia M.;
- Zondervan, Krina T.
Publication type:
Article
Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. 972, doi. 10.1093/hmg/ddu509
By:
- Schwarz, Nele;
- Carr, Amanda-Jayne;
- Lane, Amelia;
- Moeller, Fabian;
- Li Li Chen;
- Aguilà, Mònica;
- Nommiste, Britta;
- Muthiah, Manickam N.;
- Kanuga, Naheed;
- Wolfrum, Uwe;
- Nagel-Wolfrum, Kerstin;
- da Cruz, Lyndon;
- Coffey, Peter J.;
- Cheetham, Michael E.;
- Hardcastle, Alison J.
Publication type:
Article
A novel common variant in DCST2 is associated with length in early life and height in adulthood.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. 1155, doi. 10.1093/hmg/ddu510
By:
- van der Valk, Ralf J. P.;
- Kreiner-Møller, Eskil;
- Kooijman, Marjolein N.;
- Guxens, Mònica;
- Stergiakouli, Evangelia;
- Sääf, Annika;
- Bradfield, Jonathan P.;
- Geller, Frank;
- Hayes, M. Geoffrey;
- Cousminer, Diana L.;
- Körner, Antje;
- Thiering, Elisabeth;
- Curtin, John A.;
- Myhre, Ronny;
- Huikari, Ville;
- Joro, Raimo;
- Kerkhof, Marjan;
- Warrington, Nicole M.;
- Pitkänen, Niina;
- Ntalla, Ioanna
Publication type:
Article
Cover Page.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. NP, doi. 10.1093/hmg/ddu664
Publication type:
Article
Subscription Page.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. NP, doi. 10.1093/hmg/ddu716
Publication type:
Article
Contents Page.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. NP, doi. 10.1093/hmg/ddu638
Publication type:
Article
Editorial Board.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. NP, doi. 10.1093/hmg/ddu690
Publication type:
Article