Volume 24; Issue 14

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Human Molecular Genetics
Volume 24; Issue 14

Human Molecular Genetics

Volume 24; Issue 14

1

Proteolytic cleavage of ataxin-7 promotes SCA7 retinal degeneration and neurological dysfunction

Guyenet, S. J., Mookerjee, S. S., Lin, A., Custer, S. K., Chen, S. F., Sopher, B. L., La Spada, A. R., Ellerby, L. M.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 985 KB

english, 2015

2

A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degeneration

Wu, Z., Hiriyanna, S., Qian, H., Mookherjee, S., Campos, M. M., Gao, C., Fariss, R., Sieving, P. A., Li, T., Colosi, P., Swaroop, A.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 2.26 MB

english, 2015

3

Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor

Kristiansen, W., Karlsson, R., Rounge, T. B., Whitington, T., Andreassen, B. K., Magnusson, P. K., Fossa, S. D., Adami, H.-O., Turnbull, C., Haugen, T. B., Grotmol, T., Wiklund, F.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 706 KB

english, 2015

4

Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations

Avila-Fernandez, A., Perez-Carro, R., Corton, M., Lopez-Molina, M. I., Campello, L., Garanto, A., Fernandez-Sanchez, L., Duijkers, L., Lopez-Martinez, M. A., Riveiro-Alvarez, R., Da Silva, L. R. J., S

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 10.56 MB

english, 2015

5

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability

Angebault, C., Charif, M., Guegen, N., Piro-Megy, C., Mousson de Camaret, B., Procaccio, V., Guichet, P.-O., Hebrard, M., Manes, G., Leboucq, N., Rivier, F., Hamel, C. P., Lenaers, G., Roubertie, A.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 466 KB

english, 2015

6

A single nucleotide polymorphism associated with isolated cleft lip and palate, thyroid cancer and hypothyroidism alters the activity of an oral epithelium and thyroid enhancer near FOXE1

Lidral, A. C., Liu, H., Bullard, S. A., Bonde, G., Machida, J., Visel, A., Uribe, L. M. M., Li, X., Amendt, B., Cornell, R. A.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 976 KB

english, 2015

7

Dysferlin rescue by spliceosome-mediated pre-mRNA trans-splicing targeting introns harbouring weakly defined 3' splice sites

Philippi, S., Lorain, S., Beley, C., Peccate, C., Precigout, G., Spuler, S., Garcia, L.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.75 MB

english, 2015

8

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

Caparros-Martin, J. A., De Luca, A., Cartault, F., Aglan, M., Temtamy, S., Otaify, G. A., Mehrez, M., Valencia, M., Vazquez, L., Alessandri, J.-L., Nevado, J., Rueda-Arenas, I., Heath, K. E., Digilio,

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.19 MB

english, 2015

9

The active Hsc70/tau complex can be exploited to enhance tau turnover without damaging microtubule dynamics

Fontaine, S. N., Martin, M. D., Akoury, E., Assimon, V. A., Borysov, S., Nordhues, B. A., Sabbagh, J. J., Cockman, M., Gestwicki, J. E., Zweckstetter, M., Dickey, C. A.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.44 MB

english, 2015

10

Improved integrative framework combining association data with gene expression features to prioritize Crohn's disease genes

Ning, K., Gettler, K., Zhang, W., Ng, S. M., Bowen, B. M., Hyams, J., Stephens, M. C., Kugathasan, S., Denson, L. A., Schadt, E. E., Hoffman, G. E., Cho, J. H.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 562 KB

english, 2015

11

Antioxidant and anti-inflammatory agents mitigate pathology in a mouse model of pseudoachondroplasia

Posey, K. L., Coustry, F., Veerisetty, A. C., Hossain, M., Alcorn, J. L., Hecht, J. T.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 935 KB

english, 2015

12

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3

Gu, S., Yuan, B., Campbell, I. M., Beck, C. R., Carvalho, C. M. B., Nagamani, S. C. S., Erez, A., Patel, A., Bacino, C. A., Shaw, C. A., Stankiewicz, P., Cheung, S. W., Bi, W., Lupski, J. R.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.74 MB

english, 2015

13

Astrocytes influence the severity of spinal muscular atrophy

Rindt, H., Feng, Z., Mazzasette, C., Glascock, J. J., Valdivia, D., Pyles, N., Crawford, T. O., Swoboda, K. J., Patitucci, T. N., Ebert, A. D., Sumner, C. J., Ko, C.-P., Lorson, C. L.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 650 KB

english, 2015

14

Therapeutic targeting of BET bromodomain protein, Brd4, delays cyst growth in ADPKD

Zhou, X., Fan, L. X., Peters, D. J. M., Trudel, M., Bradner, J. E., Li, X.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 953 KB

english, 2015

15

Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis

Kozol, R. A., Cukier, H. N., Zou, B., Mayo, V., De Rubeis, S., Cai, G., Griswold, A. J., Whitehead, P. L., Haines, J. L., Gilbert, J. R., Cuccaro, M. L., Martin, E. R., Baker, J. D., Buxbaum, J. D., P

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.26 MB

english, 2015

16

Genetic variants in adult bone mineral density and fracture risk genes are associated with the rate of bone mineral density acquisition in adolescence

Warrington, N. M., Kemp, J. P., Tilling, K., Tobias, J. H., Evans, D. M.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 230 KB

english, 2015

17

Dystrophin Dp71 gene deletion induces retinal vascular inflammation and capillary degeneration

El Mathari, B., Sene, A., Charles-Messance, H., Vacca, O., Guillonneau, X., Grepin, C., Sennlaub, F., Sahel, J.-A., Rendon, A., Tadayoni, R.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 591 KB

english, 2015

18

Leucine-rich repeat kinase 2 deficiency is protective in rhabdomyolysis-induced kidney injury

Boddu, R., Hull, T. D., Bolisetty, S., Hu, X., Moehle, M. S., Daher, J. P. L., Kamal, A. I., Joseph, R., George, J. F., Agarwal, A., Curtis, L. M., West, A. B.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.58 MB

english, 2015

19

Latent transforming growth factor binding protein 4 regulates transforming growth factor beta receptor stability

Su, C.-T., Huang, J.-W., Chiang, C.-K., Lawrence, E. C., Levine, K. L., Dabovic, B., Jung, C., Davis, E. C., Madan-Khetarpal, S., Urban, Z.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 933 KB

english, 2015

20

Genomic prediction of complex human traits: relatedness, trait architecture and predictive meta-models

Spiliopoulou, A., Nagy, R., Bermingham, M. L., Huffman, J. E., Hayward, C., Vitart, V., Rudan, I., Campbell, H., Wright, A. F., Wilson, J. F., Pong-Wong, R., Agakov, F., Navarro, P., Haley, C. S.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 698 KB

english, 2015

21

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase

Hinttala, R., Sasarman, F., Nishimura, T., Antonicka, H., Brunel-Guitton, C., Schwartzentruber, J., Fahiminiya, S., Majewski, J., Faubert, D., Ostergaard, E., Smeitink, J. A., Shoubridge, E. A.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 632 KB

english, 2015

22

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

Fassone, E., Duncan, A. J., Taanman, J.-W., Pagnamenta, A. T., Sadowski, M. I., Holand, T., Qasim, W., Rutland, P., Calvo, S. E., Mootha, V. K., Bitner-Glindzicz, M., Rahman, S.

Journal:

Human Molecular Genetics

Year:

2015

File:

PDF, 38 KB

2015

23

Contents Page

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 36 KB

english, 2015

24

Cover Page

Journal:

Human Molecular Genetics

Year:

2015

File:

PDF, 2.92 MB

2015

25

Editorial Board

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 24 KB

english, 2015

26

Subscription Page

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 33 KB

english, 2015

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