Volume 26; Issue 8

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Human Molecular Genetics
Volume 26; Issue 8

Human Molecular Genetics

Volume 26; Issue 8

1

Downstream targets of GWAS-detected genes for breast, lung, and prostate and colon cancer converge to G1/S transition pathway

Gorlova, Olga Y., Demidenko, Eugene I., Amos, Christopher I., Gorlov, Ivan P.

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 213 KB

english, 2017

2

Disease correction by AAV-mediated gene therapy in a new mouse model of mucopolysaccharidosis type IIID

Roca, Carles, Motas, Sandra, Marcó, Sara, Ribera, Albert, Sánchez, Víctor, Sánchez, Xavier, Bertolin, Joan, León, Xavier, Pérez, Jennifer, Garcia, Miguel, Villacampa, Pilar, Ruberte, Jesús, Pujol, Ann

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 3.15 MB

english, 2017

3

Increased cytoplasmic TDP-43 reduces global protein synthesis by interacting with RACK1 on polyribosomes

Russo, Arianna, Scardigli, Raffaella, La Regina, Federico, Murray, Melissa E., Romano, Nicla, Dickson, Dennis W., Wolozin, Benjamin, Cattaneo, Antonino, Ceci, Marcello

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 613 KB

english, 2017

4

Genome-wide association study identifies novel susceptible loci and highlights Wnt/beta-catenin pathway in the development of adolescent idiopathic scoliosis

Zhu, Zezhang, Xu, Leilei, Leung-Sang Tang, Nelson, Qin, Xiaodong, Feng, Zhenhua, Sun, Weixiang, Zhu, Weiguo, Shi, Benlong, Liu, Peng, Mao, Saihu, Qiao, Jun, Liu, Zhen, Sun, Xu, Li, Fangcai, Chun-Yiu C

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 504 KB

english, 2017

5

Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition

Blouin, Jean-Marc, Bernardo-Seisdedos, Ganeko, Sasso, Emma, Esteve, Julie, Ged, Cécile, Lalanne, Magalie, Sanz-Parra, Arantza, Urquiza, Pedro, de Verneuil, Hubert, Millet, Oscar, Richard, Emmanuel

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.18 MB

english, 2017

6

Conditional eQTL analysis reveals allelic heterogeneity of gene expression

Jansen, Rick, Hottenga, Jouke-Jan, Nivard, Michel G., Abdellaoui, Abdel, Laport, Bram, de Geus, Eco J., Wright, Fred A., Penninx, Brenda W.J.H., Boomsma, Dorret I.

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 347 KB

english, 2017

7

Foxp1 expression is essential for sex-specific murine neonatal ultrasonic vocalization

Fröhlich, Henning, Rafiullah, Rafiullah, Schmitt, Nathalie, Abele, Sonja, Rappold, Gudrun A.

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.51 MB

english, 2017

8

Remodelling of microRNAs in colorectal cancer by hypoxia alters metabolism profiles and 5-fluorouracil resistance

Nijhuis, Anke, Thompson, Hannah, Adam, Julie, Parker, Alexandra, Gammon, Luke, Lewis, Amy, Bundy, Jacob G., Soga, Tomoyoshi, Jalaly, Aisha, Propper, David, Jeffery, Rosemary, Suraweera, Nirosha, McDon

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 2.16 MB

english, 2017

9

Mitochondria-targeted small molecule SS31: a potential candidate for the treatment of Alzheimer’s disease

Reddy, P. Hemachandra, Manczak, Maria, Kandimalla, Ramesh

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.16 MB

english, 2017

10

Interaction of the polyglutamine protein ataxin-3 with Rad23 regulates toxicity in Drosophila models of Spinocerebellar Ataxia Type 3

Sutton, Joanna R., Blount, Jessica R., Libohova, Kozeta, Tsou, Wei-Ling, Joshi, Gnanada S., Paulson, Henry L., Costa, Maria do Carmo, Scaglione, K. Matthew, Todi, Sokol V.

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.89 MB

english, 2017

11

Silencing of the Drosophila ortholog of SOX5 leads to abnormal neuronal development and behavioral impairment

Li, Airong, Hooli, Basavaraj, Mullin, Kristina, Tate, Rebecca E., Bubnys, Adele, Kirchner, Rory, Chapman, Brad, Hofmann, Oliver, Hide, Winston, Tanzi, Rudolph E.

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 712 KB

english, 2017

12

PTRH2 gene mutation causes progressive congenital skeletal muscle pathology

Doe, Jinger, Kaindl, Angela M., Jijiwa, Mayumi, de la Vega, Michelle, Hu, Hao, Griffiths, Genevieve S., Fontelonga, Tatiana M., Barraza, Pamela, Cruz, Vivian, Van Ry, Pam, Ramos, Joe W., Burkin, Dean

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 513 KB

english, 2017

13

Neutrophil-mediated IL-6 receptor trans-signaling and the risk of chronic obstructive pulmonary disease and asthma

Farahi, Neda, Paige, Ellie, Balla, Jozef, Prudence, Emily, Ferreira, Ricardo C., Southwood, Mark, Appleby, Sarah L., Bakke, Per, Gulsvik, Amund, Litonjua, Augusto A., Sparrow, David, Silverman, Edwin

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 644 KB

english, 2017

14

Mitochondria-targeted small molecule SS31: a potential candidate for the treatment of Alzheimer’s disease

Reddy, P. Hemachandra, Manczak, Maria, Kandimalla, Ramesh

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 39 KB

english, 2017

15

ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia

Cooper, Helen M., Yang, Yang, Ylikallio, Emil, Khairullin, Rafil, Woldegebriel, Rosa, Lin, Kai-Lan, Euro, Liliya, Palin, Eino, Wolf, Alexander, Trokovic, Ras, Isohanni, Pirjo, Kaakkola, Seppo, Auranen

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 913 KB

english, 2017

16

Mutations in MSH5 in primary ovarian insufficiency

Guo, Ting, Zhao, Shidou, Zhao, Shigang, Chen, Min, Li, Guangyu, Jiao, Xue, Wang, Zhao, Zhao, Yueran, Qin, Yingying, Gao, Fei, Chen, Zi-Jiang

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 616 KB

english, 2017

17

DNMT1 mutations found in HSANIE patients affect interaction with UHRF1 and neuronal differentiation

Smets, Martha, Link, Stephanie, Wolf, Patricia, Schneider, Katrin, Solis, Veronica, Ryan, Joel, Meilinger, Daniela, Qin, Weihua, Leonhardt, Heinrich

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.97 MB

english, 2017

18

Amino acid substitution equivalent to human chorea-acanthocytosis I2771R in yeast Vps13 protein affects its binding to phosphatidylinositol 3-phosphate

Rzepnikowska, Weronika, Flis, Krzysztof, Kaminska, Joanna, Grynberg, Marcin, Urbanek, Agnieszka, Ayscough, Kathryn R., Zoladek, Teresa

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 978 KB

english, 2017