Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 24

Results: 14

Vitamin D and overall cancer risk and cancer mortality: a Mendelian randomization study.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4315, doi. 10.1093/hmg/ddy307

By:

Ong, Jue-Sheng;
Gharahkhani, Puya;
An, Jiyuan;
Law, Matthew H;
Whiteman, David C;
Neale, Rachel E;
MacGregor, Stuart

Publication type:

Article

Sequential cleavage of the proteins encoded by HNOT/ALG3, the human counterpart of the Drosophila NOT and yeast ALG3 gene, results in products acting in distinct cellular compartments.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4231, doi. 10.1093/hmg/ddy315

By:

Hacker, Benedikt;
Schultheiß, Christoph;
Kurzik-Dumke, Ursula

Publication type:

Article

Plastin 3 influences bone homeostasis through regulation of osteoclast activity.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4249, doi. 10.1093/hmg/ddy318

By:

Neugebauer, Janine;
Heilig, Juliane;
Hosseinibarkooie, Seyyedmohsen;
Ross, Bryony C;
Mendoza-Ferreira, Natalia;
Nolte, Franziska;
Peters, Miriam;
Hölker, Irmgard;
Hupperich, Kristina;
Tschanz, Theresa

Publication type:

Article

Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4218, doi. 10.1093/hmg/ddy313

By:

Castro, Sandra C P De;
Gustavsson, Peter;
Marshall, Abigail R;
Gordon, William M;
Galea, Gabriel;
Nikolopoulou, Evanthia;
Savery, Dawn;
Rolo, Ana;
Stanier, Philip;
Andersen, Bogi

Publication type:

Article

A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4204, doi. 10.1093/hmg/ddy311

By:

Marino, Valerio;
Cortivo, Giuditta Dal;
Oppici, Elisa;
Maltese, Paolo Enrico;
D'Esposito, Fabiana;
Manara, Elena;
Ziccardi, Lucia;
Falsini, Benedetto;
Magli, Adriano;
Bertelli, Matteo

Publication type:

Article

A novel mouse model of hemangiopericytoma due to loss of Tsc2.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4169, doi. 10.1093/hmg/ddy289

By:

Du, Heng;
Dreier, John R;
Zarei, Mahsa;
Wu, Chin-Lee;
Bronson, Roderick W;
Kwiatkowski, David J

Publication type:

Article

Loss of LDAH associated with prostate cancer and hearing loss.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4194, doi. 10.1093/hmg/ddy310

By:

Currall, Benjamin B;
Chen, Ming;
Sallari, Richard C;
Cotter, Maura;
Wong, Kristen E;
Robertson, Nahid G;
Penney, Kathryn L;
Lunardi, Andrea;
Reschke, Markus;
Hickox, Ann E

Publication type:

Article

The long non-coding RNA NEAT1 is elevated in polyglutamine repeat expansion diseases and protects from disease gene-dependent toxicities.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4303, doi. 10.1093/hmg/ddy331

By:

Cheng, Congsheng;
Spengler, Ryan M;
Keiser, Megan S;
Monteys, Alejandro Mas;
Rieders, Julianne M;
Ramachandran, Shyam;
Davidson, Beverly L

Publication type:

Article

Large-scale meta-analysis highlights the hypothalamic–pituitary–gonadal axis in the genetic regulation of menstrual cycle length.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4323, doi. 10.1093/hmg/ddy317

By:

Laisk, Triin;
Kukuškina, Viktorija;
Palmer, Duncan;
Laber, Samantha;
Chen, Chia-Yen;
Ferreira, Teresa;
Rahmioglu, Nilufer;
Zondervan, Krina;
Becker, Christian;
Smoller, Jordan W

Publication type:

Article

Genome-wide identification of FOXL2 binding and characterization of FOXL2 feminizing action in the fetal gonads.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4273, doi. 10.1093/hmg/ddy312

By:

Nicol, Barbara;
Grimm, Sara A;
Gruzdev, Artiom;
Scott, Greg J;
Ray, Manas K;
Yao, Humphrey H-C

Publication type:

Article

Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4333, doi. 10.1093/hmg/ddy319

By:

Kuiper, Jonas J W;
Setten, Jessica van;
Devall, Matthew;
Cretu-Stancu, Mircea;
Hiddingh, Sanne;
Ophoff, Roel A;
Missotten, Tom O A R;
Velthoven, Mirjam van;
Hollander, Anneke I Den;
Hoyng, Carel B

Publication type:

Article

Distinct functional roles of Vps41-mediated neuroprotection in Alzheimer's and Parkinson's disease models of neurodegeneration.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4176, doi. 10.1093/hmg/ddy308

By:

Griffin, Edward F;
Yan, Xiaohui;
Caldwell, Kim A;
Caldwell, Guy A

Publication type:

Article

Bi-allelic mutations in MYL1 cause a severe congenital myopathy.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4263, doi. 10.1093/hmg/ddy320

By:

Ravenscroft, Gianina;
Zaharieva, Irina T;
Bortolotti, Carlo A;
Lambrughi, Matteo;
Pignataro, Marcello;
Borsari, Marco;
Sewry, Caroline A;
Phadke, Rahul;
Haliloglu, Goknur;
Ong, Royston

Publication type:

Article

Biallelic mutations in human NHLRC2 enhance myofibroblast differentiation in FINCA disease.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4288, doi. 10.1093/hmg/ddy298

By:

Paakkola, Teija;
Salokas, Kari;
Miinalainen, Ilkka;
Lehtonen, Siri;
Manninen, Aki;
Kaakinen, Mika;
Ruddock, Lloyd W;
Varjosalo, Markku;
Kaarteenaho, Riitta;
Uusimaa, Johanna

Publication type:

Article