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

Results: 25

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

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.

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

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

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

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.

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

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

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

CORRIGENDUM.

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.

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

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.

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

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

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.

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

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.