Volume 26; Issue 21

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Human Molecular Genetics
Volume 26; Issue 21

Human Molecular Genetics

Volume 26; Issue 21

1

Zebrafish cdc6 hypomorphic mutation causes Meier-Gorlin syndrome-like phenotype

Yao, Likun, Chen, Jing, Wu, Xiaotong, Jia, Shunji, Meng, Anming

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 2.08 MB

english, 2017

2

DARS2 protects against neuroinflammation and apoptotic neuronal loss, but is dispensable for myelin producing cells

Aradjanski, Marijana, Dogan, Sukru Anil, Lotter, Stephan, Wang, Shuaiyu, Hermans, Steffen, Wibom, Rolf, Rugarli, Elena, Trifunovic, Aleksandra

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 837 KB

english, 2017

3

IKKβ and mutant huntingtin interactions regulate the expression of IL-34: implications for microglial-mediated neurodegeneration in HD

Khoshnan, Ali, Sabbaugh, Adam, Calamini, Barbara, Marinero, Steven A, Dunn, Denise E, Yoo, Jung Hyun, Ko, Jan, Lo, Donald C, Patterson, Paul H

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 838 KB

english, 2017

4

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

Garone, Caterina, D’Souza, Aaron R, Dallabona, Cristina, Lodi, Tiziana, Rebelo-Guiomar, Pedro, Rorbach, Joanna, Donati, Maria Alice, Procopio, Elena, Montomoli, Martino, Guerrini, Renzo, Zeviani, Mass

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.04 MB

english, 2017

5

Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling

Dand, Nick, Mucha, Sören, Tsoi, Lam C, Mahil, Satveer K, Stuart, Philip E, Arnold, Andreas, Baurecht, Hansjörg, Burden, A David, Callis Duffin, Kristina, Chandran, Vinod, Curtis, Charles J, Das, Sayan

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 399 KB

english, 2017

6

Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147

Stäubli, Andrina, Capatina, Nadejda, Fuhrer, Yvonne, Munier, Francis L, Labs, Stephan, Schorderet, Daniel F, Tiwari, Amit, Verrey, Francois, Heon, Elise, Cheng, Ching-Yu, Wong, Tien-Yin, Berger, Wolfg

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 540 KB

english, 2017

7

Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy

Farhan, Sali M K, Nixon, Kevin C J, Everest, Michelle, Edwards, Tara N, Long, Shirley, Segal, Dmitri, Knip, Maria J, Arts, Heleen H, Chakrabarti, Rana, Wang, Jian, Robinson, John F, Lee, Donald, Mirsa

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.21 MB

english, 2017

8

Retracted: Elevated NADPH oxidase activity contributes to oxidative stress and cell death in Huntington’s disease

Valencia, Antonio, Sapp, Ellen, Kimm, Jeffrey S, McClory, Hollis, Reeves, Patrick B, Alexander, Jonathan, Ansong, Kwadwo A, Masso, Nicholas, Frosch, Matthew P, Kegel, Kimberly B, Li, Xueyi, DiFiglia,

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 41 KB

english, 2017