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Germline mutations in retinoma patients: Relevance to low-penetrance and low-expressivity molecular basis
Related publications (32)
Competing islands limit the rate of adaptation in structured populations
Beneficial mutations can co-occur when population structure slows down adaptation. Here, we consider the process of adaptation in asexual populations distributed over several locations ("islands"). New beneficial mutations arise at constant rate u(b), and ...
Elsevier2013Shifting Fitness Landscapes In Response To Altered Environments
Jeffrey David Jensen, Claudia Bank
The role of adaptation in molecular evolution has been contentious for decades. Here, we shed light on the adaptive potential in Saccharomyces cerevisiae by presenting systematic fitness measurements for all possible point mutations in a region of Hsp90 un ...
Wiley-Blackwell2013dRYBP Contributes to the Negative Regulation of the Drosophila Imd Pathway
The Drosophila humoral innate immune response fights infection by producing antimicrobial peptides (AMPs) through the microbe-specific activation of the Toll or the Imd signaling pathway. Upon systemic infection, the production of AMPs is both positively a ...
Public Library of Science2013VAX1 Mutation Associated with Microphthalmia, Corpus Callosum Agenesis, and Orofacial Clefting: The First Description of a VAX1 Phenotype in Humans
Vax1 and Vax2 have been implicated in eye development and the closure of the choroid fissure in mice and zebrafish. We sequenced the coding exons of VAX1 and VAX2 in 70 patients with anophthalmia/microphthalmia (A/M). In VAX1, we observed homozygosity for ...
2012Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene
Complete achromatopsia is a rare autosomal recessive disease associated with CNGA3, CNGB3, GNAT2 and PDE6C mutations. This retinal disorder is characterized by complete loss of color discrimination due to the absence or alteration of the cones function. Th ...
2011Hyaline Fibromatosis Syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors
Françoise Gisou van der Goot Grunberg, Laurence Gouzi Abrami, Nicolas Jean Philippe Guex, Julie Deuquet Ariosa, Suzanne Salvi
Hyaline Fibromatosis Syndrome (HIS) is a human genetic disease caused by mutations in the anthrax toxin receptor 2 (or cmg2) gene, which encodes a membrane protein thought to be involved in the homeostasis of the extracellular matrix. Little is known about ...
Wiley Open Access2011BCR-ABL SH3-SH2 domain mutations in chronic myeloid leukemia patients on imatinib
Point mutations in the kinase domain of BCR-ABL are the most common mechanism of drug resistance in chronic myeloid leukemia (CML) patients treated with ABL kinase inhibitors, including imatinib. It has also been shown in vitro that mutations outside the k ...
2010beta-Catenin induces immortalization of melanocytes by suppressing p16INK4a expression and cooperates with N-Ras in melanoma development
Tumor progression is a multistep process in which proproliferation mutations must be accompanied by suppression of senescence. In melanoma, proproliferative signals are provided by activating mutations in NRAS and BRAF, whereas senescence is bypassed by in ...
2007Isolation of three Mycobacterium ulcerans strains resistant to rifampin after experimental chemotherapy of mice
By use of a murine model for Buruli ulcer, Mycobacterium ulcerans was found to be susceptible to rifampin, with the MIC being 0.5 to 1 micro g/ml. Three mutants were isolated after rifampin monotherapy. Two were resistant to rifampin at 8 micro g/ml, and o ...
2003Bypass of the requirement for cdc16p GAP function in Schizosaccharomyces pombe by mutation of the septation initiation network genes
Viesturs Simanis, Nicolas Fournier
The onset of septum formation in the fission yeast Schizosaccharomyces pombe is signaled via the spglp GTPase-switch, which is part of the septation initiation network. This is negatively regulated by the two-component GTPase-activating protein (GAP) compr ...
2001