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Volume 27; Issue 2
Main
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
english, 2018
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