Volume 26; Issue 7

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Human Molecular Genetics
Volume 26; Issue 7

Human Molecular Genetics

Volume 26; Issue 7

1

Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity

Belling, Kirstine, Russo, Francesco, Jensen, Anders B., Dalgaard, Marlene D., Westergaard, David, Rajpert-De Meyts, Ewa, Skakkebæk, Niels E., Juul, Anders, Brunak, Søren

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.15 MB

english, 2017

2

Opposing FlnA and FlnB interactions regulate RhoA activation in guiding dynamic actin stress fiber formation and cell spreading

Hu, Jianjun, Lu, Jie, Goyal, Akshay, Wong, Timothy, Lian, Gewei, Zhang, Jingping, Hecht, Jonathan L., Feng, Yuanyi, Sheen, Volney L.

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.46 MB

english, 2017

3

AAV9 delivered bispecific nanobody attenuates amyloid burden in the gelsolin amyloidosis mouse model

Verhelle, Adriaan, Nair, Nisha, Everaert, Inge, Van Overbeke, Wouter, Supply, Lynn, Zwaenepoel, Olivier, Peleman, Cindy, Van Dorpe, Jo, Lahoutte, Tony, Devoogdt, Nick, Derave, Wim, Chuah, Marinee K.,

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.29 MB

english, 2017

4

Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels

Shin, Aram, Shin, Baehyun, Shin, Jun Wan, Kim, Kyung-Hee, Atwal, Ranjit S., Hope, Jennifer M., Gillis, Tammy, Leszyk, John D., Shaffer, Scott A., Lee, Ramee, Kwak, Seung, MacDonald, Marcy E., Gusella,

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 508 KB

english, 2017

5

Gclc deficiency in mouse CNS causes mitochondrial damage and neurodegeneration

Feng, Weiyi, Rosca, Mariana, Fan, Yuxuan, Hu, Yufen, Feng, Pingfu, Lee, Hyoung-Gon, Monnier, Vincent M., Fan, Xingjun

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 2.52 MB

english, 2017

6

Sex specific activation of the ERα axis of the mitochondrial UPR (UPRmt) in the G93A-SOD1 mouse model of familial ALS

Riar, Amanjot K, Burstein, Suzanne R, Palomo, Gloria M., Arreguin, Andrea, Manfredi, Giovanni, Germain, Doris

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 811 KB

english, 2017

7

Inhibiting sphingosine kinase 2 mitigates mutant Huntingtin-induced neurodegeneration in neuron models of Huntington disease

Moruno-Manchon, Jose F., Uzor, Ndidi-Ese, Blasco-Conesa, Maria P., Mannuru, Sishira, Putluri, Nagireddy, Furr-Stimming, Erin E., Tsvetkov, Andrey S.

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 866 KB

english, 2017

8

A point mutation in Fgf9 impedes joint interzone formation leading to multiple synostoses syndrome

Tang, Lingyun, Wu, Xiaolin, Zhang, Hongxin, Lu, Shunyuan, Wu, Min, Shen, Chunling, Chen, Xuejiao, Wang, Yicheng, Wang, Weigang, Shen, Yan, Gu, Mingmin, Ding, Xiaoyi, Jin, Xiaolong, Fei, Jian, Wang, Zh

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.96 MB

english, 2017

9

Mitochondrial complex II regulates a distinct oxygen sensing mechanism in monocytes

Sharma, Shraddha, Wang, Jianming, Cortes Gomez, Eduardo, Taggart, Robert T., Baysal, Bora E.

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 810 KB

english, 2017

10

Fragile X related protein 1 (FXR1P) regulates proliferation of adult neural stem cells

Patzlaff, Natalie E., Nemec, Kelsey M., Malone, Sydney G., Li, Yue, Zhao, Xinyu

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.60 MB

english, 2017

11

LRRK2(I2020T) functional genetic interactors that modify eye degeneration and dopaminergic cell loss in Drosophila

Marcogliese, Paul C., Abuaish, Sameera, Kabbach, Ghassan, Abdel-Messih, Elizabeth, Seang, Sarah, Li, Gang, Slack, Ruth S., Haque, M. Emdadul, Venderova, Katerina, Park, David S.

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.74 MB

english, 2017

12

Cowden syndrome-associated germline succinate dehydrogenase complex subunit D (SDHD) variants cause PTEN-mediated down-regulation of autophagy in thyroid cancer cells

Yu, Wanfeng, Ni, Ying, Saji, Motoyasu, Ringel, Matthew D., Jaini, Ritika, Eng, Charis

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 706 KB

english, 2017

13

Therapeutic potential of AAV-mediated MMP-3 secretion from corneal endothelium in treating glaucoma

O’Callaghan, Jeffrey, Crosbie, Darragh. E., Cassidy, Paul. S., Sherwood, Joseph M., Flügel-Koch, Cassandra, Lütjen-Drecoll, Elke, Humphries, Marian M., Reina-Torres, Ester, Wallace, Deborah, Kiang, An

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.61 MB

english, 2017

14

Rdh10 loss-of-function and perturbed retinoid signaling underlies the etiology of choanal atresia

Kurosaka, Hiroshi, Wang, Qi, Sandell, Lisa, Yamashiro, Takashi, Trainor, Paul A.

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.41 MB

english, 2017

15

GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci

Jones, Amy V., Tilley, Mera, Gutteridge, Alex, Hyde, Craig, Nagle, Michael, Ziemek, Daniel, Gorman, Donal, Fauman, Eric B., Chen, Xing, Miller, Melissa R., Tian, Chao, Hu, Youna, Hinds, David A., Cox,

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 537 KB

english, 2017