Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 2

Results: 16

LRRK2 phosphorylates membrane-bound Rabs and is activated by GTP-bound Rab7L1 to promote recruitment to the trans-Golgi network.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 2, p. 385, doi. 10.1093/hmg/ddx410

By:

Zhiyong Liu;
Bryant, Nicole;
Kumaran, Ravindran;
Beilina, Alexandra;
Abeliovich, Asa;
Cookson, Mark R.;
West, Andrew B.

Publication type:

Article

Aminoglycoside-mediated promotion of translation readthrough occurs through a non-stochastic mechanism that competes with translation termination.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 2, p. 373, doi. 10.1093/hmg/ddx409

By:

Chowdhury, H. M.;
Siddiqui, M. A.;
Kanneganti, S.;
Sharmin, N.;
Chowdhury, M. W.;
Nasim, M. Talat

Publication type:

Article

DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 2, p. 359, doi. 10.1093/hmg/ddx408

By:

Bouilly, Justine;
Messina, Andrea;
Papadakis, Georgios;
Cassatella, Daniele;
Cheng Xu;
Acierno, James S.;
Tata, Brooke;
Sykiotis, Gerasimos;
Santini, Sara;
Sidis, Yisrael;
Elowe-Gruau, Eglantine;
Franziska Phan-Hug;
Hauschild, Michael;
Bouloux, Pierre-Marc;
Quinton, Richard;
Lang-Muritano, Mariarosaria;
Favre, Lucie;
Marino, Laura;
Giacobini, Paolo;
Dwyer, Andrew A.

Publication type:

Article

Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 2, p. 295, doi. 10.1093/hmg/ddx400

By:

Molday, Laurie L.;
Wahl, Daniel;
Sarunic, Marinko V.;
Molday, Robert S.

Publication type:

Article

Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 2, p. 283, doi. 10.1093/hmg/ddx399

By:

Dilan, Tanya L.;
Singh, Ratnesh K.;
Saravanan, Thamaraiselvi;
Moye, Abigail;
Goldberg, Andrew F.X.;
Stoilov, Peter;
Ramamurthy, Visvanathan

Publication type:

Article

De novo mutations in Caudal Type Homeo Box transcription Factor 2 (CDX2) in patients with persistent cloaca.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 2, p. 351, doi. 10.1093/hmg/ddx406

By:

Hsu, Jacob S. J.;
So, Manting;
Tang, Clara S. M.;
Karim, Anwarul;
Porsch, Robert M.;
Carol Wong;
Yu, Michelle;
Fanny Yeung;
Huimin Xia;
Ruizhong Zhang;
Cherny, Stacey S.;
Chung, Patrick H. Y.;
Wong, Kenneth K. Y.;
Sham, Pak C.;
Ngoc Diem Ngo;
Miaoxin Li;
Tam, Paul K. H.;
Lui, Vincent C. H.;
Garcia-Barcelo, Maria-Mercè

Publication type:

Article

Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 2, p. 266, doi. 10.1093/hmg/ddx396

By:

Ryan, Rebecca;
Failler, Marion;
Reilly, Madeline Louise;
Garfa-Traore, Meriem;
Delous, Marion;
Filhol, Emilie;
Reboul, Thérèse;
Bole-Feysot, Christine;
Nitschké, Patrick;
Baudouin, Véronique;
Amselem, Serge;
Escudier, Estelle;
Legendre, Marie;
Benmerah, Alexandre;
Saunier, Sophie

Publication type:

Article

The liver receptor homolog-1 (LRH-1) is expressed in human islets and protects β-cells against stress-induced apoptosis.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 2, p. 406, doi. 10.1093/hmg/ddx402

By:

Baquié, Mathurin;
St-Onge, Luc;
Kerr-Conte, Julie;
Cobo-Vuilleumier, Nadia;
Lorenzo, Petra I.;
Jimenez Moreno, Carmen M.;
Cederroth, Christopher R.;
Nef, Serge;
Borot, Sophie;
Bosco, Domenico;
Haiyan Wang;
Marchetti, Piero;
Pattou, Francois;
Wollheim, Claes B.;
Gauthier, Benoit R.

Publication type:

Article

Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 2, p. 338, doi. 10.1093/hmg/ddx404

By:

Cox, Kimberly H.;
Oliveira, Luciana M. B.;
Plummer, Lacey;
Corbin, Braden;
Gardella, Thomas;
Balasubramanian, Ravikumar;
Crowley, William F.

Publication type:

Article

Mutation-dependent aggregation and toxicity in a Drosophila model for UBQLN2-associated ALS.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 2, p. 322, doi. 10.1093/hmg/ddx403

By:

Sang Hwa Kim;
Stiles, Shannon G.;
Feichtmeier, Joseph M.;
Ramesh, Nandini;
Lihong Zhan;
Scalf, Mark A.;
Smith, Lloyd M.;
Pandey, Udai Bhan;
Tibbetts, Randal S.

Publication type:

Article

GLUT10 maintains the integrity of major arteries through regulation of redox homeostasis and mitochondrial function.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 2, p. 307, doi. 10.1093/hmg/ddx401

By:

Yu-Wei Syu;
Hao-Wen Lai;
Chung-Lin Jiang;
Hong-Yuan Tsai;
Chung-Chih Lin;
Yi-Ching Lee

Publication type:

Article

Behavioral and transcriptomic analysis of Trem2-null mice: not all knockout mice are created equal.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 2, p. 211, doi. 10.1093/hmg/ddx366

By:

Kang, Silvia S.;
Kurti, Aishe;
Baker, Kelsey E.;
Chia-Chen Liu;
Colonna, Marco;
Ulrich, Jason D.;
Holtzman, David M.;
Guojun Bu;
Fryer, John D.

Publication type:

Article

Location matters: distinct DNA methylation patterns in GABAergic interneuronal populations from separate microcircuits within the human hippocampus.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 2, p. 254, doi. 10.1093/hmg/ddx395

By:

Ruzicka, W. Brad;
Subburaju, Sivan;
Coyle, Joseph T.;
Benes, Francine M.

Publication type:

Article

HACE1 is essential for astrocyte mitochondrial function and influences Huntington disease phenotypes in vivo.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 2, p. 239, doi. 10.1093/hmg/ddx394

By:

Ehrnhoefer, Dagmar E.;
Southwell, Amber L.;
Sivasubramanian, Meenalochani;
Xiaofan Qiu;
Villanueva, Erika B.;
Yuanyun Xie;
Waltl, Sabine;
Anderson, Lisa;
Fazeli, Anita;
Casal, Lorenzo;
Felczak, Boguslaw;
Tsang, Michelle;
Hayden, Michael R.

Publication type:

Article

Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 2, p. 224, doi. 10.1093/hmg/ddx384

By:

Broix, Loïc;
Asselin, Laure;
Silva, Carla G.;
Ivanova, Ekaterina L.;
Tilly, Peggy;
Gilet, Johan G.;
Lebrun, Nicolas;
Jagline, Hé lène;
Muraca, Giuseppe;
Saillour, Yoann;
Drouot, Nathalie;
Reilly, Madeline Louise;
Francis, Fiona;
Benmerah, Alexandre;
Bahi-Buisson, Nadia;
Belvindrah, Richard;
Nguyen, Laurent;
Godin, Juliette D.;
Chelly, Jamel;
Hinckelmann, Maria-Victoria

Publication type:

Article

COPD GWAS variant at 19q13.2 in relation with DNA methylation and gene expression.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 2, p. 396, doi. 10.1093/hmg/ddx390

By:

Nedeljkovic, Ivana;
Lahousse, Lies;
Carnero-Montoro, Elena;
Faiz, Alen;
Vonk, Judith M.;
Jong, Kim de;
van der Plaat, Diana A.;
van Diemen, Cleo C.;
Berge, Maarten van den;
Obeidat, Ma'en;
Bossé, Yohan;
Nickle, David C.;
Consortium, BIOS;
Uitterlinden, Andre G.;
van Meurs, Joyce B.J.;
Stricker, Bruno H.C.;
Brusselle, Guy G.;
Postma, Dirkje S.;
Boezen, H. Marike;
van Duijn, Cornelia M.

Publication type:

Article