Volume 24; Issue 19

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Human Molecular Genetics
Volume 24; Issue 19

Human Molecular Genetics

Volume 24; Issue 19

1

A rare P2X7 variant Arg307Gln with absent pore formation function protects against neuroinflammation in multiple sclerosis

Gu, Ben J., Field, Judith, Dutertre, Sébastien, Ou, Amber, Kilpatrick, Trevor J., Lechner-Scott, Jeannette, Scott, Rodney, Lea, Rodney, Taylor, Bruce V., Stankovich, Jim, Butzkueven, Helmut, Gresle, M

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 579 KB

english, 2015

2

SMN deficiency disrupts gastrointestinal and enteric nervous system function in mice: Figure 8.

Gombash, Sara E., Cowley, Christopher J., Fitzgerald, Julie A., Iyer, Chitra C., Fried, David, McGovern, Vicki L., Williams, Kent C., Burghes, Arthur H.M., Christofi, Fedias L., Gulbransen, Brian D.,

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 100 KB

english, 2015

3

A local complement response by RPE causes early-stage macular degeneration

Fernandez-Godino, Rosario, Garland, Donita L., Pierce, Eric A.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.44 MB

english, 2015

4

Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans

Amin Al Olama, Ali, Dadaev, Tokhir, Hazelett, Dennis J., Li, Qiuyan, Leongamornlert, Daniel, Saunders, Edward J., Stephens, Sarah, Cieza-Borrella, Clara, Whitmore, Ian, Benlloch Garcia, Sara, Giles, G

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 595 KB

english, 2015

5

N -acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasia

Monti, Luca, Paganini, Chiara, Lecci, Silvia, De Leonardis, Fabio, Hay, Eric, Cohen-Solal, Martine, Villani, Simona, Superti-Furga, Andrea, Tenni, Ruggero, Forlino, Antonella, Rossi, Antonio

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 668 KB

english, 2015

6

Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss

Vuckovic, Dragana, Dawson, Sally, Scheffer, Deborah I., Rantanen, Taina, Morgan, Anna, Di Stazio, Mariateresa, Vozzi, Diego, Nutile, Teresa, Concas, Maria P., Biino, Ginevra, Nolan, Lisa, Bahl, Aileen

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 594 KB

english, 2015

7

Homozygous loss-of-function variants in European cosmopolitan and isolate populations

Kaiser, Vera B., Svinti, Victoria, Prendergast, James G., Chau, You-Ying, Campbell, Archie, Patarcic, Inga, Barroso, Inês, Joshi, Peter K., Hastie, Nicholas D., Miljkovic, Ana, Taylor, Martin S., Enro

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 357 KB

english, 2015

8

Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I

Oppici, Elisa, Fargue, Sonia, Reid, Emma S., Mills, Philippa B., Clayton, Peter T., Danpure, Christopher J., Cellini, Barbara

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 807 KB

english, 2015

9

Low-frequency germline variants across 6p22.2–6p21.33 are associated with non-obstructive azoospermia in Han Chinese men

Ni, Bixian, Lin, Yuan, Sun, Liangdan, Zhu, Meng, Li, Zheng, Wang, Hui, Yu, Jun, Guo, Xuejiang, Zuo, Xianbo, Dong, Jing, Xia, Yankai, Wen, Yang, Wu, Hao, Li, Honggang, Zhu, Yong, Ping, Ping, Chen, Xian

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 558 KB

english, 2015

10

Subscription Page

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 35 KB

english, 2015

11

Editorial Board

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 27 KB

english, 2015

12

Contents Page

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 36 KB

english, 2015

13

Cover Page

Journal:

Human Molecular Genetics

Year:

2015

File:

PDF, 245 KB

2015

14

Cln1 gene disruption in mice reveals a common pathogenic link between two of the most lethal childhood neurodegenerative lysosomal storage disorders

Chandra, Goutam, Bagh, Maria B., Peng, Shiyong, Saha, Arjun, Sarkar, Chinmoy, Moralle, Matthew, Zhang, Zhongjian, Mukherjee, Anil B.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.22 MB

english, 2015