Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 1

Results: 15

Investigating the impact of cigarette smoking behaviours on DNA methylation patterns in adolescence.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 1, p. 155, doi. 10.1093/hmg/ddy316

By:

Prince, Claire;
Hammerton, Gemma;
Taylor, Amy E;
Anderson, Emma L;
Timpson, Nicholas J;
Smith, George Davey;
Munafò, Marcus R;
Relton, Caroline L;
Richmond, Rebecca C

Publication type:

Article

Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 1, p. 175, doi. 10.1093/hmg/ddy342

By:

Charng, Jason;
Cideciyan, Artur V;
Jacobson, Samuel G;
Sumaroka, Alexander;
Schwartz, Sharon B;
Swider, Malgorzata;
Roman, Alejandro J;
Sheplock, Rebecca;
Anand, Manisha;
Peden, Marc C;
Khanna, Hemant;
Heon, Elise;
Wright, Alan F;
Swaroop, Anand

Publication type:

Article

Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).

Published in:

Human Molecular Genetics, 2019, v. 28, n. 1, p. 133, doi. 10.1093/hmg/ddy334

By:

Seo, Aaron;
Gulsuner, Suleyman;
Pierce, Sarah;
Ben-Harosh, Miri;
Shalev, Hanna;
Walsh, Tom;
Krasnov, Tanya;
Dgany, Orly;
Doulatov, Sergei;
Tamary, Hannah;
Shimamura, Akiko;
King, Mary-Claire

Publication type:

Article

Epigenetic changes in preterm birth placenta suggest a role for ADAMTS genes in spontaneous preterm birth.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 1, p. 84, doi. 10.1093/hmg/ddy325

By:

Mani, Sneha;
Ghosh, Jayashri;
Lan, Yemin;
Senapati, Suneeta;
Ord, Teri;
Sapienza, Carmen;
Coutifaris, Christos;
Mainigi, Monica

Publication type:

Article

C-type natriuretic peptide improves growth retardation in a mouse model of cardio-facio-cutaneous syndrome.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 1, p. 74, doi. 10.1093/hmg/ddy333

By:

Inoue, Shin-ichi;
Morozumi, Naomi;
Yoshikiyo, Kazunori;
Maeda, Hiroaki;
Aoki, Yoko

Publication type:

Article

Insight into the specificity and severity of pathogenic mechanisms associated with missense mutations through experimental and structural perturbation analyses.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 1, p. 1, doi. 10.1093/hmg/ddy323

By:

Medina-Carmona, Encarnación;
Betancor-Fernández, Isabel;
Santos, Jaime;
Mesa-Torres, Noel;
Grottelli, Silvia;
Batlle, Cristina;
Naganathan, Athi N;
Oppici, Elisa;
Cellini, Barbara;
Ventura, Salvador;
Salido, Eduardo;
Pey, Angel L

Publication type:

Article

Cordycepin activates autophagy through AMPK phosphorylation to reduce abnormalities in Machado–Joseph disease models.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 1, p. 51, doi. 10.1093/hmg/ddy328

By:

Marcelo, Adriana;
Brito, Filipa;
Carmo-Silva, Sara;
Matos, Carlos A;
Alves-Cruzeiro, João;
Vasconcelos-Ferreira, Ana;
Koppenol, Rebekah;
Mendonça, Liliana;
Almeida, Luís Pereira de;
Nóbrega, Clévio

Publication type:

Article

Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 1, p. 143, doi. 10.1093/hmg/ddy343

By:

Waskowicz, Lauren R;
Zhou, Jin;
Landau, Dustin J;
Brooks, Elizabeth D;
Lim, Andrea;
Yavarow, Zollie A;
Kudo, Tsubasa;
Zhang, Haoyue;
Wu, Yajun;
Grant, Stuart;
Young, Sarah P;
Huat, Bay Boon;
Yen, Paul M;
Koeberl, Dwight D

Publication type:

Article

GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 1, p. 96, doi. 10.1093/hmg/ddy330

By:

Rumping, Lynne;
Tessadori, Federico;
Pouwels, Petra J W;
Vringer, Esmee;
Wijnen, Jannie P;
Bhogal, Alex A;
Savelberg, Sanne M C;
Duran, Karen J;
Bakkers, Mark J G;
Ramos, Rúben J J;
Schellekens, Peter A W;
Kroes, Hester Y;
Klomp, Dennis W J;
Black, Graeme C M;
Taylor, Rachel L;
Bakkers, Jeroen P W;
Prinsen, Hubertus C M T;
Knaap, Marjo S van der;
Dansen, Tobias B;
Rehmann, Holger

Publication type:

Article

Polycystin-1 regulates bone development through an interaction with the transcriptional coactivator TAZ.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 1, p. 16, doi. 10.1093/hmg/ddy322

By:

Merrick, David;
Mistry, Kavita;
Wu, Jingshing;
Gresko, Nikolay;
Baggs, Julie E;
Hogenesch, John B;
Sun, Zhaoxia;
Caplan, Michael J

Publication type:

Article

A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 1, p. 124, doi. 10.1093/hmg/ddy336

By:

Fratta, Pietro;
Ornaghi, Francesca;
Dati, Gabriele;
Zambroni, Desirée;
Saveri, Paola;
Belin, Sophie;
D'Adamo, Patrizia;
Shy, Michael;
Quattrini, Angelo;
Feltri, M Laura;
Wrabetz, Lawrence

Publication type:

Article

Modeling Cornelia de Lange syndrome in vitro and in vivo reveals a role for cohesin complex in neuronal survival and differentiation.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 1, p. 64, doi. 10.1093/hmg/ddy329

By:

Bottai, Daniele;
Spreafico, Marco;
Pistocchi, Anna;
Fazio, Grazia;
Adami, Raffaella;
Grazioli, Paolo;
Canu, Adriana;
Bragato, Cinzia;
Rigamonti, Silvia;
Parodi, Chiara;
Cazzaniga, Gianni;
Biondi, Andrea;
Cotelli, Franco;
Selicorni, Angelo;
Massa, Valentina

Publication type:

Article

Loss of CRB2 in Müller glial cells modifies a CRB1-associated retinitis pigmentosa phenotype into a Leber congenital amaurosis phenotype.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 1, p. 105, doi. 10.1093/hmg/ddy337

By:

Quinn, Peter M;
Mulder, Aat A;
Alves, C Henrique;
Desrosiers, Mélissa;
Vries, Sharon I de;
Klooster, Jan;
Dalkara, Deniz;
Koster, Abraham J;
Jost, Carolina R;
Wijnholds, Jan

Publication type:

Article

Nuclear localization and phosphorylation modulate pathological effects of alpha-synuclein.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 1, p. 31, doi. 10.1093/hmg/ddy326

By:

Pinho, Raquel;
Paiva, Isabel;
Jerčić, Kristina Gotovac;
Fonseca-Ornelas, Luis;
Gerhardt, Ellen;
Fahlbusch, Christiane;
Garcia-Esparcia, Paula;
Kerimoglu, Cemil;
Pavlou, Maria A S;
Villar-Piqué, Anna;
Szegő, Éva;
Fonseca, Tomás Lopes da;
Odoardi, Francesca;
Soeroes, Szabolcs;
Rego, Ana Cristina;
Fischle, Wolfgang;
Schwamborn, Jens C;
Meyer, Thomas;
Kügler, Sebastian;
Ferrer, Isidre

Publication type:

Article

Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 1, p. 166, doi. 10.1093/hmg/ddy327

By:

Pulit, Sara L;
Stoneman, Charli;
Morris, Andrew P;
Wood, Andrew R;
Glastonbury, Craig A;
Tyrrell, Jessica;
Yengo, Loïc;
Ferreira, Teresa;
Marouli, Eirini;
Ji, Yingjie;
Yang, Jian;
Jones, Samuel;
Beaumont, Robin;
Croteau-Chonka, Damien C;
Winkler, Thomas W;
Consortium, GIANT;
Hattersley, Andrew T;
Loos, Ruth J F;
Hirschhorn, Joel N;
Visscher, Peter M

Publication type:

Article