Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 23

Results: 12

Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 23, p. 4022, doi. 10.1093/hmg/ddz175

By:

Johansson, Åsa;
Rask-Andersen, Mathias;
Karlsson, Torgny;
Weronica, E. Ek

Publication type:

Article

Physiological and pathological roles of LRRK2 in the nuclear envelope integrity.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 23, p. 3982, doi. 10.1093/hmg/ddz245

By:

Shani, Vered;
Safory, Hazem;
Szargel, Raymonde;
Wang, Ninghan;
Cohen, Tsipora;
Elghani, Fatimah Abd;
Hamza, Haya;
Savyon, Mor;
Radzishevsky, Inna;
Shaulov, Lihi;
Rott, Ruth;
Lim, Kah-Leong;
Ross, Christopher A.;
Bandopadhyay, Rina;
Zhang, Hui;
Engelender, Simone

Publication type:

Article

Curcumin dietary supplementation ameliorates disease phenotype in an animal model of Huntington's disease.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 23, p. 4012, doi. 10.1093/hmg/ddz247

By:

Elifani, F;
Amico, E;
Pepe, G;
Capocci, L;
Castaldo, S;
Rosa, P;
Montano, E;
Pollice, A;
Madonna, M;
Filosa, S;
Calogero, A;
Maglione, V;
Crispi, S;
Di Pardo, A

Publication type:

Article

Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 23, p. 3970, doi. 10.1093/hmg/ddz134

By:

Fakhro, Khalid A.;
Robay, Amal;
Rodriguez-Flores, Juan L.;
Mezey, Jason G.;
Al-Shakaki, Alya A.;
Chidiac, Omar;
Stadler, Dora J.;
Malek, Joel A.;
Imam, Abu Bakr;
Sheikh, Arwa;
Azzam, Asmaa;
Janahi, Ibrahim;
Khanjar, Izzat;
Osman, Kamal;
Ziki, Maen Abou;
Mahmah, Mohamed Adnan;
Selim, Mohamed;
Nimeri, Nuha;
Ali, Rehab;
Lakhani, Shenela

Publication type:

Article

Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 23, p. 3928, doi. 10.1093/hmg/ddz234

By:

Hughes, Juliette H.;
Liu, Ke;
Plagge, Antonius;
Wilson, Peter J.M.;
Sutherland, Hazel;
Norman, Brendan P;
Hughes, Andrew T.;
Keenan, Craig M;
Milan, Anna M.;
Sakai, Takao;
Ranganath, Lakshminarayan R.;
Gallagher, James A.;
Bou-Gharios, George

Publication type:

Article

Smcr8 deficiency disrupts axonal transport-dependent lysosomal function and promotes axonal swellings and gain of toxicity in C9ALS/FTD mouse models.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 23, p. 3940, doi. 10.1093/hmg/ddz230

By:

Liang, Chen;
Shao, Qiang;
Zhang, Wei;
Yang, Mei;
Chang, Qing;
Chen, Rong;
Chen, Jian-Fu

Publication type:

Article

Model system identification of novel congenital heart disease gene candidates: focus on RPL13.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 23, p. 3954, doi. 10.1093/hmg/ddz213

By:

Schroeder, Analyne M.;
Allahyari, Massoud;
Vogler, Georg;
Missinato, Maria A.;
Nielsen, Tanja;
Yu, Michael S.;
Theis, Jeanne L.;
Larsen, Lars A.;
Goyal, Preeya;
Rosenfeld, Jill A.;
Nelson, Timothy J.;
Olson, Timothy M.;
Colas, Alexandre R.;
Grossfeld, Paul;
Bodmer, Rolf

Publication type:

Article

The variability of SMCHD1 gene in FSHD patients: evidence of new mutations.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 23, p. 3912, doi. 10.1093/hmg/ddz239

By:

Strafella, Claudia;
Caputo, Valerio;
Galota, Rosaria Maria;
Campoli, Giulia;
Bax, Cristina;
Colantoni, Luca;
Minozzi, Giulietta;
Orsini, Chiara;
Politano, Luisa;
Tasca, Giorgio;
Novelli, Giuseppe;
Ricci, Enzo;
Giardina, Emiliano;
Cascella, Raffaella

Publication type:

Article

Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 23, p. 3921, doi. 10.1093/hmg/ddz236

By:

Bitetto, Giacomo;
Ronchi, Dario;
Bonato, Sara;
Pittaro, Alessandra;
Compagnoni, Giacomo Monzio;
Bordoni, Andreina;
Salani, Sabrina;
Frattini, Emanuele;
Lopez, Gianluca;
Cribiu, Fulvia Milena;
Corti, Stefania;
Comi, Giacomo P;
Bresolin, Nereo;
Fonzo, Alessio Di

Publication type:

Article

Mutations in CHCHD2 cause α-synuclein aggregation.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 23, p. 3895, doi. 10.1093/hmg/ddz241

By:

Ikeda, Aya;
Nishioka, Kenya;
Meng, Hongrui;
Takanashi, Masashi;
Hasegawa, Iwao;
Inoshita, Tsuyoshi;
Shiba-Fukushima, Kahori;
Li, Yuanzhe;
Yoshino, Hiroyo;
Mori, Akio;
Okuzumi, Ayami;
Yamaguchi, Akihiro;
Nonaka, Risa;
Izawa, Nana;
Ishikawa, Kei-ichi;
Saiki, Hidemoto;
Morita, Masayo;
Hasegawa, Masato;
Hasegawa, Kazuko;
Elahi, Montasir

Publication type:

Article

Using human Pompe disease-induced pluripotent stem cell-derived neural cells to identify compounds with therapeutic potential.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 23, p. 3880, doi. 10.1093/hmg/ddz218

By:

Huang, Hsiang-Po;
Chiang, Wei;
Stone, Lee;
Kang, Chun-Kai;
Chuang, Ching-Yu;
Kuo, Hung-Chih

Publication type:

Article

Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 23, p. 3867, doi. 10.1093/hmg/ddz210

By:

Holthaus, Sophia-Martha kleine;
Herranz-Martin, Saul;
Massaro, Giulia;
Aristorena, Mikel;
Hoke, Justin;
Hughes, Michael P.;
Maswood, Ryea;
Semenyuk, Olha;
Basche, Mark;
Shah, Amna Z.;
Klaska, Izabela P.;
Smith, Alexander J.;
Mole, Sara E.;
Rahim, Ahad A.;
Ali, Robin R.

Publication type:

Article