Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 16

Results: 19

Tea and coffee consumption in relation to DNA methylation in four European cohorts.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 16, p. 3221, doi. 10.1093/hmg/ddx194

By:

Ek, Weronica E.;
Tobi, Elmar W.;
Ahsan, Muhammad;
Lampa, Erik;
Ponzi, Erica;
Kyrtopoulos, Soterios A.;
Georgiadis, Panagiotis;
Lumey, L. H.;
Heijmans, Bastiaan T.;
Botsivali, Maria;
Bergdahl, Ingvar A.;
Karlsson, Torgny;
Rask-Andersen, Mathias;
Palli, Domenico;
Ingelsson, Erik;
Hedman, Åsa K.;
Nilsson, Lena M.;
Vineis, Paolo;
Lind, Lars;
Flanagan, James M.

Publication type:

Article

Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 16, p. 3130, doi. 10.1093/hmg/ddx197

By:

Duncan, Emma J.;
Larivière, Roxanne;
Bradshaw, Teisha Y.;
Longo, Fabiana;
Sgarioto, Nicolas;
Hayes, Matthew J.;
Romano, Lisa E. L.;
Nethisinghe, Suran;
Giunti, Paola;
Bruntraeger, Michaela B.;
Durham, Heather D.;
Brais, Bernard;
Maltecca, Francesca;
Gentil, Benoit J.;
Chapple, J. Paul

Publication type:

Article

Genotype--phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 16, p. 3105, doi. 10.1093/hmg/ddx195

By:

Zaki, Osama K.;
C., George Priya Doss;
Ali, Salsabil A.;
Murad, Ghadeer G.;
Elashi, Shaima A.;
Ebnou, Maryam S. A.;
D., Thirumal Kumar;
Khalifa, Ola;
Gamal, Radwa;
El Abd, Heba S. A.;
N. Nasr, Bilal;
Zayed, Hatem

Publication type:

Article

SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 16, p. 3234, doi. 10.1093/hmg/ddx232

By:

Zhaoxin Ma;
Wenjun Xia;
Fei Liu;
Jing Ma;
Shaoyang Sun;
Jin Zhang;
Nan Jiang;
Xu Wang;
Jiongjiong Hu;
Duan Ma

Publication type:

Article

Identification of a rare LAMB4 variant associated with familial diverticulitis through exome sequencing.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 16, p. 312, doi. 10.1093/hmg/ddx204

By:

Coble, Joel L.;
Sheldon, Kathryn E.;
Feng Yue;
Salameh, Tarik J.;
Harris III, Leonard R.;
Sue Deiling;
Ruggiero, Francesca M.;
Eshelman, Melanie A.;
Yochum, Gregory S.;
Koltun, Walter A.;
Gerhard, Glenn S.;
Broach, James R.

Publication type:

Article

Spatial-temporal transcriptional dynamics of long non-coding RNAs in human brain.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 16, p. 3202, doi. 10.1093/hmg/ddx203

By:

Xiao-Qin Zhang;
Ze-Lin Wang;
Ming-Wai Poon;
Jian-Hua Yang

Publication type:

Article

Loss of hepatic LRPPRC alters mitochondrial bioenergetics, regulation of permeability transition and trans-membrane ROS diffusion.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 16, p. 3186, doi. 10.1093/hmg/ddx202

By:

Cuillerier, Alexanne;
Honarmand, Shamisa;
Cadete, Virgilio J. J.;
Ruiz, Matthieu;
Forest, Anik;
Deschênes, Sonia;
Beauchamp, Claudine;
Charron, Guy;
Rioux, John D.;
Rosiers, Christine Des;
Shoubridge, Eric A.;
Burelle, Yan

Publication type:

Article

Evidence that phosphorylated ubiquitin signaling is involved in the etiology of Parkinson's disease.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 16, p. 3172, doi. 10.1093/hmg/ddx201

By:

Kahori Shiba-Fukushima;
Kei-Ichi Ishikawa;
Tsuyoshi Inoshita;
Nana Izawa;
Masashi Takanashi;
Shigeto Sato;
Osamu Onodera;
Wado Akamatsu;
Hideyuki Okano;
Yuzuru Imai;
Nobutaka Hattori

Publication type:

Article

Homozygous deletion of SUN5 in three men with decapitated spermatozoa.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 16, p. 3167, doi. 10.1093/hmg/ddx200

By:

Elkhatib, Razan A.;
Paci, Marine;
Longepied, Guy;
Saias-Magnan, Jacqueline;
Courbière, Blandine;
Guichaoua, Marie-Roberte;
Lévy, Nicolas;
Metzler-Guillemain, Catherine;
Mitchell, Michael J.

Publication type:

Article

A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 16, p. 3161, doi. 10.1093/hmg/ddx199

By:

Carlosama, Carolina;
Elzaiat, Maëva;
Patiño, Liliana C.;
Mateus, Heidi E.;
Veitia, Reiner A.;
Laissue, Paul

Publication type:

Article

7,8-dihydroxyflavone ameliorates cognitive and motor deficits in a Huntington's disease mouse model through specific activation of the PLCγ1 pathway.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 16, p. 3144, doi. 10.1093/hmg/ddx198

By:

Barriga, Gerardo García-Díaz;
Giralt, Albert;
Anglada-Huguet, Marta;
Gaja-Capdevila, Nuria;
Orlandi, Javier G.;
Soriano, Jordi;
Canals, Josep-Maria;
Alberch, Jordi

Publication type:

Article

Alternative splicing in the C-terminal tail of Ca<sub>v</sub>2.1 is essential for preventing a neurological disease in mice.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 16, p. 3094, doi. 10.1093/hmg/ddx193

By:

Tomonori Aikawa;
Takaki Watanabe;
Taisuke Miyazaki;
Takayasu Mikuni;
Minoru Wakamori;
Miyano Sakurai;
Hidenori Aizawa;
Nobutaka Ishizu;
Masahiko Watanabe;
Masanobu Kano;
Hidehiro Mizusawa;
Kei Watase

Publication type:

Article

Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 16, p. 3116, doi. 10.1093/hmg/ddx196

By:

Xiaojiao Xue;
Mutyam, Venkateshwar;
Thakerar, Amita;
Mobley, James;
Bridges, Robert J.;
Rowe, Steven M.;
Keeling, Kim M.;
Bedwell, David M.

Publication type:

Article

Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 16, p. 3081, doi. 10.1093/hmg/ddx192

By:

Cho, Anna;
Christine, May;
Malicdan, V.;
Miyakawa, Miho;
Ikuya Nonaka;
Ichizo Nishino;
Satoru Noguchi

Publication type:

Article

Gene co-expression network analysis for identifying modules and functionally enriched pathways in SCA2.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 16, p. 3069, doi. 10.1093/hmg/ddx191

By:

Pflieger, Lance T.;
Dansithong, Warunee;
Paul, Sharan;
Scoles, Daniel R.;
Figueroa, Karla P.;
Meera, Pratap;
Otis, Thomas S.;
Facelli, Julio C.;
Pulst, Stefan M.

Publication type:

Article

A flow cytometry-based screen identifies MBNL1 modulators that rescue splicing defects in myotonic dystrophy type I.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 16, p. 3056, doi. 10.1093/hmg/ddx190

By:

Fan Zhang;
Bodycombe, Nicole E.;
Haskell, Keith M.;
Sun, Yumei L.;
Wang, Eric T.;
Morris, Carl A.;
Jones, Lyn H.;
Wood, Lauren D.;
Pletcher, Mathew T.

Publication type:

Article

Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 16, p. 3046, doi. 10.1093/hmg/ddx178

By:

Cao, Felicia;
Linchao Lu;
Abrams, Steven A.;
Hawthorne, Keli M.;
Tam, Allison;
Weidong Jin;
Dawson, Brian;
Shypailo, Roman;
Hao Liu;
Lee, Brendan;
Nagamani, Sandesh C. S.;
Wang, Lisa L.

Publication type:

Article

Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesis.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 16, p. 3031, doi. 10.1093/hmg/ddx140

By:

Chunbo Yang;
Yaobo Xu;
Min Yu;
Lee, David;
Alharti, Sameer;
Hellen, Nicola;
Shaik, Noor Ahmad;
Banaganapalli, Babajan;
Ali Mohamoud, Hussein Sheikh;
Elango, Ramu;
Przyborski, Stefan;
Tenin, Gennadiy;
Williams, Simon;
O'Sullivan, John;
Al-Radi, Osman O.;
Atta, Jameel;
Harding, Sian E.;
Keavney, Bernard;
Lako, Majlinda;
Armstrong, Lyle

Publication type:

Article

A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 16, p. 3232, doi. 10.1093/hmg/ddx176

By:

Ramani, Biswarathan;
Harris, Ginny M.;
Huang, Rogerio;
Takahiro Seki;
Murphy, Geoffrey G.;
Costa, Maria do Carmo;
Fischer, Svetlana;
Saunders, Thomas L.;
Guangbin Xia;
McEachin, Richard C.;
Paulson, Henry L.

Publication type:

Article