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

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

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

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

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

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

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

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

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

Cover Page.

Published in:: Human Molecular Genetics, 2015, v. 24, n. 4, p. NP, doi. 10.1093/hmg/ddu664
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

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

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

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

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