Publication
A simple and rapid technique for the detection of rifampin resistance in Mycobacterium leprae
Related publications (42)
The Black cells phenotype is caused by a point mutation in the Drosophila pro-phenoloxidase 1 gene that triggers melanization and hematopoietic defects
Bruno Lemaitre, Maroun Bou Sleiman, Olivier Binggeli, Lise Bertin
Melanization contributes to arthropod-specific innate immunity through deposition of melanin at wound sites or around parasites, with concomitant release of microbicidal reactive oxygen species. Melanization requires sequential activation of proteolytic en ...
Elsevier2015From polymers to gene regulation
DNA molecule is the fundamental component of every living organism, since it encodes the hereditary information. Although the genetic code of almost 200 species has been sequenced, the direct connection between gene sequence, DNA structure and biological f ...
EPFL2015Mycobacterium lepromatosis Infections in Nuevo Leon, Mexico
Stewart Cole, Andrej Benjak, Charlotte Avanzi, Philippe Busso, Pushpendra Singh
The frequency of infection caused by the recently described pathogen Mycobacterium lepromatosis is unknown. Here, we describe the demographics, clinical characteristics, and therapeutic outcomes of five lepromatous leprosy patients suffering from M. leprom ...
American Society for Microbiology2015A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family
Asymmetric cell division is essential for normal human brain development. Mutations in several genes encoding centrosomal proteins that participate in accurate cell division have been reported to cause autosomal recessive primary microcephaly (MCPH). By ho ...
Oxford Univ Press2014The H50Q Mutation Enhances alpha-Synuclein Aggregation, Secretion, and Toxicity
Giovanni Dietler, Hilal Lashuel, Anne-Laure Mahul Mellier, Bruno Claude Daniel Fauvet, Francesco Simone Ruggeri, Abid Oueslati, Martial Mbefo Kamdem, Ossama Mohamed Salah El-Dien El-Sayed Ibrahim Khalaf, Filip Vercruysse
Over the last two decades, the identification of missense mutations in the alpha-synuclein (alpha-Syn) gene SNCA in families with inherited Parkinson disease (PD) has reinforced the central role of alpha-Syn in PD pathogenesis. Recently, a new missense mut ...
American Society for Biochemistry and Molecular Biology2014ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm
The major active retinoid, all-trans retinoic acid, has long been recognized as critical for the development of several organs, including the eye. Mutations in STRA6, the gene encoding the cellular receptor for vitamin A, in patients with MatthewWood syndr ...
Oxford University Press2013Shifting 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-Blackwell2013Detection and Strain Typing of Ancient Mycobacterium leprae from a Medieval Leprosy Hospital
Stewart Cole, Pushpendra Singh
Nine burials excavated from the Magdalen Hill Archaeological Research Project (MHARP) in Winchester, UK, showing skeletal signs of lepromatous leprosy (LL) have been studied using a multidisciplinary approach including osteological, geochemical and biomole ...
Public Library of Science2013A Point Mutation in cycA Partially Contributes to the D-cycloserine Resistance Trait of Mycobacterium bovis BCG Vaccine Strains
Stewart Cole, Swapna Uplekar, Jeffrey Chen
In mycobacteria, CycA a D-serine, L-and D-alanine, and glycine transporter also functions in the uptake of D-cycloserine, an important second-line anti-tubercular drug. A single nucleotide polymorphism identified in the cycA gene of BCG was hypothesized to ...
Public Library of Science2012Common Pathogenic Effects of Missense Mutations in the P-Type ATPase ATP13A2 (PARK9) Associated with Early-Onset Parkinsonism
Liliane Glauser, Darren Moore, Sarah Catherine Sonnay, Klodjan Stafa, Alzbeta Trancikova, Alessandra Musso, Agata Podhajska
Mutations in the ATP13A2 gene (PARK9) cause autosomal recessive, juvenile-onset Kufor-Rakeb syndrome (KRS), a neurodegenerative disease characterized by parkinsonism. KRS mutations produce truncated forms of ATP13A2 with impaired protein stability resultin ...
Public Library of Science2012