Volume 27; Issue 2

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Human Molecular Genetics
Volume 27; Issue 2

Human Molecular Genetics

Volume 27; Issue 2

1

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

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

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 2.29 MB

english, 2018

2

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

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

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 1.46 MB

english, 2018

3

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

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

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 1.03 MB

english, 2018

4

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

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

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 1.14 MB

english, 2018

5

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

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, Wang, Haiy

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 40 KB

english, 2018

6

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

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

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 697 KB

english, 2018

7

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

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

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 2.23 MB

english, 2018

8

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

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

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 1.05 MB

english, 2018

9

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

Ryan, Rebecca, Failler, Marion, Reilly, Madeline Louise, Garfa-Traore, Meriem, Delous, Marion, Filhol, Emilie, Reboul, Thérèse, Bole-Feysot, Christine, Nitschké, Patrick, Baudouin, Véronique, Amselem,

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 1.59 MB

english, 2018

10

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

Ehrnhoefer, Dagmar E, Southwell, Amber L, Sivasubramanian, Meenalochani, Qiu, Xiaofan, Villanueva, Erika B, Xie, Yuanyun, Waltl, Sabine, Anderson, Lisa, Fazeli, Anita, Casal, Lorenzo, Felczak, Bogusla

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 891 KB

english, 2018

11

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

Nedeljkovic, Ivana, Lahousse, Lies, Carnero-Montoro, Elena, Faiz, Alen, Vonk, Judith M, de Jong, Kim, van der Plaat, Diana A, van Diemen, Cleo C, van den Berge, Maarten, Obeidat, Ma’en, Bossé, Yohan,

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 326 KB

english, 2018