Volume 17; Issue 13

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Human Molecular Genetics
Volume 17; Issue 13

Human Molecular Genetics

Volume 17; Issue 13

1

De novo CoA biosynthesis is required to maintain DNA integrity during development of the Drosophila nervous system

Bosveld, F., Rana, A., van der Wouden, P. E., Lemstra, W., Ritsema, M., Kampinga, H. H., Sibon, O. C. M.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 1.10 MB

english, 2008

2

Identification of a novel asthma susceptibility gene on chromosome 1qter and its functional evaluation

White, J. H., Chiano, M., Wigglesworth, M., Geske, R., Riley, J., White, N., Hall, S., Zhu, G., Maurio, F., Savage, T., Anderson, W., Cordy, J., Ducceschi, M., Vestbo, J., Pillai, S. G.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 761 KB

english, 2008

3

Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning

Tayeh, M. K., Yen, H.-J., Beck, J. S., Searby, C. C., Westfall, T. A., Griesbach, H., Sheffield, V. C., Slusarski, D. C.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 634 KB

english, 2008

4

A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes

Rinne, T., Clements, S. E., Lamme, E., Duijf, P. H.G., Bolat, E., Meijer, R., Scheffer, H., Rosser, E., Tan, T. Y., McGrath, J. A., Schalkwijk, J., Brunner, H. G., Zhou, H., van Bokhoven, H.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 483 KB

english, 2008

5

Genetic background conversion ameliorates semi-lethality and permits behavioral analyses in cystathionine -synthase-deficient mice, an animal model for hyperhomocysteinemia

Akahoshi, N., Kobayashi, C., Ishizaki, Y., Izumi, T., Himi, T., Suematsu, M., Ishii, I.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 1.00 MB

english, 2008

6

A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis

Martin, D. C., Atmuri, V., Hemming, R. J., Farley, J., Mort, J. S., Byers, S., Hombach-Klonisch, S., Stern, R., Triggs-Raine, B. L.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 642 KB

english, 2008

7

Endocannabinoid receptor 1 gene variations increase risk for obesity and modulate body mass index in European populations

Benzinou, M., Chevre, J.-C., Ward, K. J., Lecoeur, C., Dina, C., Lobbens, S., Durand, E., Delplanque, J., Horber, F. F., Heude, B., Balkau, B., Borch-Johnsen, K., Jorgensen, T., Hansen, T., Pedersen,

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 213 KB

english, 2008

8

Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene

Capon, F., Bijlmakers, M.-J., Wolf, N., Quaranta, M., Huffmeier, U., Allen, M., Timms, K., Abkevich, V., Gutin, A., Smith, R., Warren, R. B., Young, H. S., Worthington, J., Burden, A. D., Griffiths, C

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 301 KB

english, 2008

9

Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes

Martinelli, S., Torreri, P., Tinti, M., Stella, L., Bocchinfuso, G., Flex, E., Grottesi, A., Ceccarini, M., Palleschi, A., Cesareni, G., Castagnoli, L., Petrucci, T. C., Gelb, B. D., Tartaglia, M.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 669 KB

english, 2008

10

Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150Glued subunit of dynactin

Chevalier-Larsen, E. S., Wallace, K. E., Pennise, C. R., Holzbaur, E. L.F.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 813 KB

english, 2008

11

APOE/C1/C4/C2 hepatic control region polymorphism influences plasma apoE and LDL cholesterol levels

Klos, K., Shimmin, L., Ballantyne, C., Boerwinkle, E., Clark, A., Coresh, J., Hanis, C., Liu, K., Sayre, S., Hixson, J.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 396 KB

english, 2008

12

Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations

Grandis, M., Vigo, T., Passalacqua, M., Jain, M., Scazzola, S., La Padula, V., Brucal, M., Benvenuto, F., Nobbio, L., Cadoni, A., Mancardi, G. L., Kamholz, J., Shy, M. E., Schenone, A.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 859 KB

english, 2008

13

Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation

Beysen, D., Moumne, L., Veitia, R., Peters, H., Leroy, B. P., De Paepe, A., De Baere, E.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 527 KB

english, 2008

14

The loss of methyl-CpG binding protein 1 leads to autism-like behavioral deficits

Allan, A. M., Liang, X., Luo, Y., Pak, C., Li, X., Szulwach, K. E., Chen, D., Jin, P., Zhao, X.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 316 KB

english, 2008

15

Functional definition of the mutation cluster region of adenomatous polyposis coli in colorectal tumours

Kohler, E. M., Derungs, A., Daum, G., Behrens, J., Schneikert, J.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 711 KB

english, 2008

16

Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms

Pymar, L. S., Platt, F. M., Askham, J. M., Morrison, E. E., Knowles, M. A.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 854 KB

english, 2008

17

Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls

Simon-Sanchez, J., Singleton, A. B.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 75 KB

english, 2008

18

Haemoglobin S and haemoglobin C: 'quick but costly' versus 'slow but gratis' genetic adaptations to Plasmodium falciparum malaria

Modiano, D., Bancone, G., Ciminelli, B. M., Pompei, F., Blot, I., Simpore, J., Modiano, G.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 26 KB

english, 2008

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