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Volume 17; Issue 10
Main
Human Molecular Genetics
Volume 17; Issue 10
Human Molecular Genetics
Volume 17; Issue 10
1
A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts
Reamon-Buettner, S. M.
,
Ciribilli, Y.
,
Inga, A.
,
Borlak, J.
Journal:
Human Molecular Genetics
Year:
2008
Language:
english
File:
PDF, 481 KB
Your tags:
english, 2008
2
A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5' UTR of GDF5 with osteoarthritis susceptibility
Chapman, K.
,
Takahashi, A.
,
Meulenbelt, I.
,
Watson, C.
,
Rodriguez-Lopez, J.
,
Egli, R.
,
Tsezou, A.
,
Malizos, K. N.
,
Kloppenburg, M.
,
Shi, D.
,
Southam, L.
,
van der Breggen, R.
,
Donn, R.
,
Qin, J.
,
Dohert
Journal:
Human Molecular Genetics
Year:
2008
Language:
english
File:
PDF, 147 KB
Your tags:
english, 2008
3
Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour
Cerrato, F.
,
Sparago, A.
,
Verde, G.
,
De Crescenzo, A.
,
Citro, V.
,
Cubellis, M. V.
,
Rinaldi, M. M.
,
Boccuto, L.
,
Neri, G.
,
Magnani, C.
,
D'Angelo, P.
,
Collini, P.
,
Perotti, D.
,
Sebastio, G.
,
Maher, E. R
Journal:
Human Molecular Genetics
Year:
2008
Language:
english
File:
PDF, 462 KB
Your tags:
english, 2008
4
Loss of RB1 induces non-proliferative retinoma: increasing genomic instability correlates with progression to retinoblastoma
Dimaras, H.
,
Khetan, V.
,
Halliday, W.
,
Orlic, M.
,
Prigoda, N. L.
,
Piovesan, B.
,
Marrano, P.
,
Corson, T. W.
,
Eagle, R. C.
,
Squire, J. A.
,
Gallie, B. L.
Journal:
Human Molecular Genetics
Year:
2008
Language:
english
File:
PDF, 716 KB
Your tags:
english, 2008
5
Targeted delivery of an Mecp2 transgene to forebrain neurons improves the behavior of female Mecp2-deficient mice
Jugloff, D. G.M.
,
Vandamme, K.
,
Logan, R.
,
Visanji, N. P.
,
Brotchie, J. M.
,
Eubanks, J. H.
Journal:
Human Molecular Genetics
Year:
2008
Language:
english
File:
PDF, 1.01 MB
Your tags:
english, 2008
6
Aberrant molecular properties shared by familial Parkinson's disease-associated mutant UCH-L1 and carbonyl-modified UCH-L1
Kabuta, T.
,
Setsuie, R.
,
Mitsui, T.
,
Kinugawa, A.
,
Sakurai, M.
,
Aoki, S.
,
Uchida, K.
,
Wada, K.
Journal:
Human Molecular Genetics
Year:
2008
Language:
english
File:
PDF, 1.11 MB
Your tags:
english, 2008
7
Dopamine determines the vulnerability of striatal neurons to the N-terminal fragment of mutant huntingtin through the regulation of mitochondrial complex II
Benchoua, A.
,
Trioulier, Y.
,
Diguet, E.
,
Malgorn, C.
,
Gaillard, M.-C.
,
Dufour, N.
,
Elalouf, J.-M.
,
Krajewski, S.
,
Hantraye, P.
,
Deglon, N.
,
Brouillet, E.
Journal:
Human Molecular Genetics
Year:
2008
Language:
english
File:
PDF, 625 KB
Your tags:
english, 2008
8
Variations in the progranulin gene affect global gene expression in frontotemporal lobar degeneration
Chen-Plotkin, A. S.
,
Geser, F.
,
Plotkin, J. B.
,
Clark, C. M.
,
Kwong, L. K.
,
Yuan, W.
,
Grossman, M.
,
Van Deerlin, V. M.
,
Trojanowski, J. Q.
,
Lee, V. M.-Y.
Journal:
Human Molecular Genetics
Year:
2008
Language:
english
File:
PDF, 571 KB
Your tags:
english, 2008
9
Identification of genetic variants that influence circulating IGF1 levels: a targeted search strategy
Palles, C.
,
Johnson, N.
,
Coupland, B.
,
Taylor, C.
,
Carvajal, J.
,
Holly, J.
,
Fentiman, I. S.
,
dos Santos Silva, I.
,
Ashworth, A.
,
Peto, J.
,
Fletcher, O.
Journal:
Human Molecular Genetics
Year:
2008
Language:
english
File:
PDF, 395 KB
Your tags:
english, 2008
10
Heterodimer formation of wild-type and amyotrophic lateral sclerosis-causing mutant Cu/Zn-superoxide dismutase induces toxicity independent of protein aggregation
Witan, H.
,
Kern, A.
,
Koziollek-Drechsler, I.
,
Wade, R.
,
Behl, C.
,
Clement, A. M.
Journal:
Human Molecular Genetics
Year:
2008
Language:
english
File:
PDF, 1.23 MB
Your tags:
english, 2008
11
Insulin receptor and lipid metabolism pathology in ataxin-2 knock-out mice
Lastres-Becker, I.
,
Brodesser, S.
,
Lutjohann, D.
,
Azizov, M.
,
Buchmann, J.
,
Hintermann, E.
,
Sandhoff, K.
,
Schurmann, A.
,
Nowock, J.
,
Auburger, G.
Journal:
Human Molecular Genetics
Year:
2008
Language:
english
File:
PDF, 760 KB
Your tags:
english, 2008
12
Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism
Lyly, A.
,
Marjavaara, S. K.
,
Kyttala, A.
,
Uusi-Rauva, K.
,
Luiro, K.
,
Kopra, O.
,
Martinez, L. O.
,
Tanhuanpaa, K.
,
Kalkkinen, N.
,
Suomalainen, A.
,
Jauhiainen, M.
,
Jalanko, A.
Journal:
Human Molecular Genetics
Year:
2008
Language:
english
File:
PDF, 996 KB
Your tags:
english, 2008
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