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434 Aktuelle Fachpublikationen in Human Molecular Genetics
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Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression
15.09.2011 | Ben-David, E., Granot-Hershkovitz, E., Monderer-Rothkoff, G., Lerer, E., Levi, S., Yaari, M., Ebstein, R. P., Yirmiy ..., Human Molecular Genetics, 2011
Recent work has led to the identification of several susceptibility genes for autism spectrum disorder (ASD) and an increased appreciation of the importance of rare and de novo mutations. Some of the mutations may be very hard to detect using current strategies, especially if they are ...
Ccdc66 null mutation causes retinal degeneration and dysfunction
15.09.2011 | Gerding, W. M., Schreiber, S., Schulte-Middelmann, T., de Castro Marques, A., Atorf, J., Akkad, D. A., Dekomien, G., ..., Human Molecular Genetics, 2011
Retinitis pigmentosa (RP) is a group of human retinal disorders, with more than 100 genes involved in retinal degeneration. Canine and murine models are useful for investigating human RP based on known, naturally occurring mutations. In Schapendoes dogs, for example, a mutation in the CCDC66 ...
The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase
15.09.2011 | Coene, K. L. M., Mans, D. A., Boldt, K., Gloeckner, C. J., van Reeuwijk, J., Bolat, E., Roosing, S., Letteboer, S. J ..., Human Molecular Genetics, 2011
Recent studies have established ciliary dysfunction as the underlying cause of a broad range of multi-organ phenotypes, known as ‘ciliopathies’. Ciliopathy-associated proteins have a common site of action in the cilium, however, their overall importance for ciliary function differs, as ...
Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death
15.09.2011 | Ugolino, J., Fang, S., Kubisch, C., Monteiro, M. J., Human Molecular Genetics, 2011
Mutations in ATP13A2 (PARK9) have been linked to juvenile parkinsonism with dementia or Kufor–Rakeb syndrome (KRS). The ATP13A2 gene encodes at least three protein isoforms that arise by alternate splicing. A previous study indicated the Atp13a2Isoform-1 protein is localized to lysosomes, ...
APC mutations in colorectal tumours from FAP patients are selected for CtBP-mediated oligomerization of truncated APC
15.09.2011 | Schneikert, J., Brauburger, K., Behrens, J., Human Molecular Genetics, 2011
The germline transmission of a mutation in the adenomatous polyposis coli (APC) gene leads to cancer of the gastro-intestinal tract upon somatic inactivation of the remaining allele in familial adenomatous polyposis (FAP) patients. APC mutations result in truncated products that have ...
Genomic, genetic and functional dissection of bitter taste responses to artificial sweeteners
01.09.2011 | Roudnitzky, N., Bufe, B., Thalmann, S., Kuhn, C., Gunn, H. C., Xing, C., Crider, B. P., Behrens, M., Meyerhof, W., W ..., Human Molecular Genetics, 2011
Bitter taste perception is initiated by TAS2R receptors, which respond to agonists by triggering depolarization of taste bud cells. Mutations in TAS2Rs are known to affect taste phenotypes by altering receptor function. Evidence that TAS2Rs overlap in ligand specificity suggests that they ...
Mutational probing of the forkhead domain of the transcription factor FOXL2 provides insights into the pathogenicity of naturally occurring mutations
01.09.2011 | Todeschini, A.-L., Dipietromaria, A., L'Hote, D., Boucham, F. Z., Georges, A. B., Pandaranayaka, P. J. E., Krishnasw ..., Human Molecular Genetics, 2011
Mutations of the transcription factor FOXL2, involved in cranio-facial and ovarian development, lead to the Blepharophimosis Syndrome. Here, we have systematically replaced the amino acids of the helices of the forkhead domain (FHD) of FOXL2 by glycine residues to assess the impact of such ...
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders
01.09.2011 | Schaaf, C. P., Sabo, A., Sakai, Y., Crosby, J., Muzny, D., Hawes, A., Lewis, L., Akbar, H., Varghese, R., Boerwinkle ..., Human Molecular Genetics, 2011
Autism spectrum disorders (ASDs) are a heterogeneous group of neuro-developmental disorders. While significant progress has been made in the identification of genes and copy number variants associated with syndromic autism, little is known to date about the etiology of idiopathic ...
Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3
01.09.2011 | Ermolova, N., Kudryashova, E., DiFranco, M., Vergara, J., Kramerova, I., Spencer, M. J., Human Molecular Genetics, 2011
Calpain 3 (CAPN3) is a muscle-specific, calcium-dependent proteinase that is mutated in Limb Girdle Muscle Dystrophy type 2A. Most pathogenic missense mutations in LGMD2A affect CAPN3's proteolytic activity; however, two mutations, D705G and R448H, retain activity but nevertheless cause ...
RAD51C is a susceptibility gene for ovarian cancer
15.08.2011 | Pelttari, L. M., Heikkinen, T., Thompson, D., Kallioniemi, A., Schleutker, J., Holli, K., Blomqvist, C., Aittomaki, ..., Human Molecular Genetics, 2011
A homozygous mutation in the RAD51C gene was recently found to cause Fanconi anemia-like disorder. Furthermore, six heterozygous deleterious RAD51C mutations were detected in German breast and ovarian cancer families. We screened 277 Finnish familial breast or ovarian cancer patients for ...
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