Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 21

Results: 25

Altered cytoskeletal organization characterized lethal but not surviving Brtl+/- mice: insight on phenotypic variability in osteogenesis imperfecta.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 21, p. 6118, doi. 10.1093/hmg/ddv328

By:

Bianchi, Laura;
Gagliardi, Assunta;
Maruelli, Silvia;
Besio, Roberta;
Landi, Claudia;
Gioia, Roberta;
Kozloff, Kenneth M.;
Khoury, Basma M.;
Coucke, Paul J.;
Symoens, Sofie;
Marini, Joan C.;
Rossi, Antonio;
Bini, Luca;
Forlino, Antonella

Publication type:

Article

Loss of lysyl oxidase-like 3 causes cleft palate and spinal deformity in mice.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 21, p. 6174, doi. 10.1093/hmg/ddv333

By:

Jian Zhang;
Rui Yang;
Ziyi Liu;
Congzhe Hou;
Wen Zong;
Aizhen Zhang;
Xiaoyang Sun;
Jiangang Gao

Publication type:

Article

Long-term engraftment of myogenic progenitors from adipose-derived stem cells and muscle regeneration in dystrophic mice.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 21, p. 6029, doi. 10.1093/hmg/ddv316

By:

Yu Zhang;
Yuling Zhu;
Yaqin Li;
Jiqing Cao;
Huili Zhang;
Menglong Chen;
Liang Wang;
Cheng Zhang

Publication type:

Article

A new variant in signal peptide of the human luteinizing hormone receptor (LHCGR) affects receptor biogenesis causing leydig cell hypoplasia.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 21, p. 6003, doi. 10.1093/hmg/ddv313

By:

Vezzoli, Valeria;
Duminuco, Paolo;
Vottero, Alessandra;
Kleinau, Gunnar;
Schülein, Ralf;
Minari, Roberta;
Bassi, Ivan;
Bernasconi, Sergio;
Persani, Luca;
Bonomi, Marco

Publication type:

Article

Intravitreal delivery of a novel AAV vector targets ON bipolar cells and restores visual function in a mouse model of complete congenital stationary night blindness.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 21, p. 6229, doi. 10.1093/hmg/ddv341

By:

Scalabrino, Miranda L.;
Boye, Sanford L.;
Fransen, Kathryn M. H.;
Noel, Jennifer M.;
Dyka, Frank M.;
Seok Hong Min;
Qing Ruan;
De Leeuw, Charles N.;
Simpson, Elizabeth M.;
Gregg, Ronald G.;
McCall, Maureen A.;
Peachey, Neal S.;
Boye, Shannon E.

Publication type:

Article

Conserved hippocampal cellular pathophysiology but distinct behavioural deficits in a new rat model of FXS.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 21, p. 5977, doi. 10.1093/hmg/ddv299

By:

Till, Sally M.;
Asiminas, Antonis;
Jackson, Adam D.;
Katsanevaki, Danai;
Barnes, Stephanie A.;
Osterweil, Emily K.;
Bear, Mark F.;
Chattarji, Sumantra;
Wood, Emma R.;
Wyllie, David J. A.;
Kind, Peter C.

Publication type:

Article

Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 21, p. 5995, doi. 10.1093/hmg/ddv309

By:

Turner, Tychele N.;
Douville, Christopher;
Kim, Dewey;
Stenson, Peter D.;
Cooper, David N.;
Chakravarti, Aravinda;
Karchin, Rachel

Publication type:

Article

Silencing neuronal mutant androgen receptor in a mouse model of spinal and bulbar muscular atrophy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 21, p. 5985, doi. 10.1093/hmg/ddv300

By:

Kentaro Sahashi;
Masahisa Katsuno;
Gene Hung;
Hiroaki Adachi;
Naohide Kondo;
Hideaki Nakatsuji;
Genki Tohnai;
Madoka Iida;
Bennett, C. Frank;
Sobue, Gen

Publication type:

Article

Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 21, p. 6054, doi. 10.1093/hmg/ddv317

By:

Chengyuan Tang;
Xiang Chen;
Jingwei Chi;
Dawei Yang;
Shu Liu;
Mujun Liu;
Qian Pan;
Jianbing Fan;
Danling Wang;
Zhuohua Zhang

Publication type:

Article

Glial TDP-43 regulates axon wrapping, GluRIIA clustering and fly motility by autonomous and non-autonomous mechanisms.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 21, p. 6134, doi. 10.1093/hmg/ddv330

By:

Romano, Giulia;
Appocher, Chiara;
Scorzeto, Michele;
Klima, Raffaella;
Baralle, Francisco E.;
Megighian, Aram;
Feiguin, Fabian

Publication type:

Article

CORRIGENDUM.

Published in:: Human Molecular Genetics, 2015, v. 24, n. 21, p. 6264, doi. 10.1093/hmg/ddv311
Publication type:: Article

Increased levels of interleukin-6 exacerbate the dystrophic phenotype in mdx mice.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 21, p. 6041, doi. 10.1093/hmg/ddv323

By:

Pelosi, Laura;
Berardinelli, Maria Grazia;
Forcina, Laura;
Spelta, Elisa;
Rizzuto, Emanuele;
Nicoletti, Carmine;
Camilli, Carlotta;
Testa, Erika;
Catizone, Angela;
De Benedetti, Fabrizio;
Musarò, Antonio

Publication type:

Article

Anti-Aβ single-chain variable fragment antibodies exert synergistic neuroprotective activities in Drosophila models of Alzheimer's disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 21, p. 6093, doi. 10.1093/hmg/ddv321

By:

Fernandez-Funez, Pedro;
Yan Zhang;
Sanchez-Garcia, Jonatan;
de Mena, Lorena;
Khare, Swati;
Golde, Todd E.;
Levites, Yona;
Rincon-Limas, Diego E.

Publication type:

Article

Haploinsufficiency for either one of the type-II regulatory subunits of protein kinase A improves the bone phenotype of Prkar1a+/- mice.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 21, p. 6080, doi. 10.1093/hmg/ddv320

By:

Liu, Sisi;
Saloustros, Emmanouil;
Mertz, Edward L.;
Tsang, Kitman;
Starost, Matthew F.;
Salpea, Paraskevi;
Faucz, Fabio R.;
Szarek, Eva;
Nesterova, Maria;
Leikin, Sergey;
Stratakis, Constantine A.

Publication type:

Article

Tau deposition drives neuropathological, inflammatory and behavioral abnormalities independently of neuronal loss in a novel mouse model.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 21, p. 6198, doi. 10.1093/hmg/ddv336

By:

Cook, Casey;
Kang, Silvia S.;
Carlomagno, Yari;
Wen-Lang Lin;
Mei Yue;
Aishe Kurti;
Mitsuru Shinohara;
Jansen-West, Karen;
Perkerson, Emilie;
Castanedes-Casey, Monica;
Rousseau, Linda;
Phillips, Virginia;
Guojun Bu;
Dickson, Dennis W.;
Petrucelli, Leonard;
Fryer, John D.

Publication type:

Article

DNMT1-associated long non-coding RNAs regulate global gene expression and DNA methylation in colon cancer.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 21, p. 6240, doi. 10.1093/hmg/ddv343

By:

Merry, Callie R.;
Forrest, Megan E.;
Sabers, Jessica N.;
Beard, Lydia;
Xing-Huang Gao;
Hatzoglou, Maria;
Jackson, Mark W.;
Zhenghe Wang;
Markowitz, Sanford D.;
Khalil, Ahmad M.

Publication type:

Article

Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 21, p. 6213, doi. 10.1093/hmg/ddv339

By:

Pranav Dinesh Mathur;
Junhuang Zou;
Tihua Zheng;
Almishaal, Ali;
Yong Wang;
Qian Chen;
Le Wang;
Vashist, Deepti;
Brown, Steve;
Park, Albert;
Jun Yang

Publication type:

Article

VPS35 pathogenic mutations confer no dominant toxicity but partial loss of function in Drosophila and genetically interact with parkin.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 21, p. 6106, doi. 10.1093/hmg/ddv322

By:

Malik, Bilal R.;
Godena, Vinay K.;
Whitworth, Alexander J.

Publication type:

Article

Low levels of Survival Motor Neuron protein are sufficient for normal muscle function in the SMNΔ7 mouse model of SMA.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 21, p. 6160, doi. 10.1093/hmg/ddv332

By:

Iyer, Chitra C.;
McGovern, Vicki L.;
Murray, Jason D.;
Gombash, Sara E.;
Zaworski, Phillip G.;
Foust, Kevin D.;
Janssen, Paul M. L.;
Burghes, Arthur H. M.

Publication type:

Article

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 21, p. 6146, doi. 10.1093/hmg/ddv331

By:

Ilkovski, Biljana;
Pagnamenta, Alistair T.;
O'Grady, Gina L.;
Kinoshita, Taroh;
Howard, Malcolm F.;
Lek, Monkol;
Thomas, Brett;
Turner, Anne;
Christodoulou, John;
Sillence, David;
Knight, Samantha J. L.;
Popitsch, Niko;
Keays, David A.;
Anzilotti, Consuelo;
Goriely, Anne;
Waddell, Leigh B.;
Brilot, Fabienne;
North, Kathryn N.;
Noriyuki Kanzawa;
Macarthur, Daniel G.

Publication type:

Article

Pathogenic LRRK2 mutations, through increased kinase activity, produce enlarged lysosomes with reduced degradative capacity and increase ATP13A2 expression.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 21, p. 6013, doi. 10.1093/hmg/ddv314

By:

Henry, Anastasia G.;
Aghamohammadzadeh, Soheil;
Samaroo, Harry;
Yi Chen;
Mou, Kewa;
Needle, Elie;
Hirst, Warren D.

Publication type:

Article

Elucidating the role of the A2A adenosine receptor in neurodegeneration using neurons derived from Huntington's disease iPSCs.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 21, p. 6066, doi. 10.1093/hmg/ddv318

By:

Feng-Lan Chiu;
Jun-Tasi Lin;
Ching-Yu Chuang;
Ting Chien;
Chiung-Mei Chen;
Kai-Hsiang Chen;
Han-Yun Hsiao;
Yow-Sien Lin;
Yijuang Chern;
Hung-Chih Kuo

Publication type:

Article

Cholesterol 24-hydroxylase defect is implicated in memory impairments associated with Alzheimer-like Tau pathology.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 21, p. 5965, doi. 10.1093/hmg/ddv268

By:

Burlot, Marie-Anne;
Braudeau, Jérôme;
Michaelsen-Preusse, Kristin;
Potier, Brigitte;
Ayciriex, Sophie;
Varin, Jennifer;
Gautier, Benoit;
Djelti, Fathia;
Audrain, Mickael;
Dauphinot, Luce;
Fernandez-Gomez, Francisco-Jose;
Caillierez, Raphaëlle;
Laprévote, Olivier;
Bièche, Ivan;
Auzeil, Nicolas;
Potier, Marie-Claude;
Dutar, Patrick;
Korte, Martin;
Buée, Luc;
Blum, David

Publication type:

Article

Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 21, p. 6254, doi. 10.1093/hmg/ddv348

By:

Schaefer, Benedikt;
Haschka, David;
Finkenstedt, Armin;
Petersen, Britt-Sabina;
Theurl, Igor;
Henninger, Benjamin;
Janecke, Andreas R.;
Chia-Yu Wang;
Lin, Herbert Y.;
Veits, Lothar;
Vogel, Wolfgang;
Weiss, Günter;
Franke, Andre;
Zoller, Heinz

Publication type:

Article

Transcriptional dysregulation of inflammatory/immune pathways after active vaccination against Huntington's disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 21, p. 6186, doi. 10.1093/hmg/ddv335

By:

Ramsingh, Arlene I.;
Manley, Kevin;
Yinghui Rong;
Reilly, Andrew;
Messer, Anne

Publication type:

Article

Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 21

Altered cytoskeletal organization characterized lethal but not surviving Brtl<sup>+/-</sup> mice: insight on phenotypic variability in osteogenesis imperfecta.

Loss of lysyl oxidase-like 3 causes cleft palate and spinal deformity in mice.

Long-term engraftment of myogenic progenitors from adipose-derived stem cells and muscle regeneration in dystrophic mice.

A new variant in signal peptide of the human luteinizing hormone receptor (LHCGR) affects receptor biogenesis causing leydig cell hypoplasia.

Intravitreal delivery of a novel AAV vector targets ON bipolar cells and restores visual function in a mouse model of complete congenital stationary night blindness.

Conserved hippocampal cellular pathophysiology but distinct behavioural deficits in a new rat model of FXS.

Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns.

Silencing neuronal mutant androgen receptor in a mouse model of spinal and bulbar muscular atrophy.

Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism.

Glial TDP-43 regulates axon wrapping, GluRIIA clustering and fly motility by autonomous and non-autonomous mechanisms.

CORRIGENDUM.

Increased levels of interleukin-6 exacerbate the dystrophic phenotype in mdx mice.

Anti-Aβ single-chain variable fragment antibodies exert synergistic neuroprotective activities in Drosophila models of Alzheimer's disease.

Haploinsufficiency for either one of the type-II regulatory subunits of protein kinase A improves the bone phenotype of Prkar1a<sup>+/-</sup> mice.

Tau deposition drives neuropathological, inflammatory and behavioral abnormalities independently of neuronal loss in a novel mouse model.

DNMT1-associated long non-coding RNAs regulate global gene expression and DNA methylation in colon cancer.

Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31.

VPS35 pathogenic mutations confer no dominant toxicity but partial loss of function in Drosophila and genetically interact with parkin.

Low levels of Survival Motor Neuron protein are sufficient for normal muscle function in the SMNΔ7 mouse model of SMA.

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.

Pathogenic LRRK2 mutations, through increased kinase activity, produce enlarged lysosomes with reduced degradative capacity and increase ATP13A2 expression.

Elucidating the role of the A<sub>2A</sub> adenosine receptor in neurodegeneration using neurons derived from Huntington's disease iPSCs.

Cholesterol 24-hydroxylase defect is implicated in memory impairments associated with Alzheimer-like Tau pathology.

Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease.

Transcriptional dysregulation of inflammatory/immune pathways after active vaccination against Huntington's disease.