Results 161 to 170 of about 9,839 (200)

Role of a short tandem leucine/arginine repeat in strong mutator phenotype acquisition in a clinical isolate of Salmonella Typhimurium

FEMS Microbiology Letters, 2013
International audienceIn this prospective study, a strong mutator strain of Salmonella Typhimurium was isolated from a collection of 130 human clinical strains of Salmonella.
Latifa Bousarghin, Martine Bonnaure-Mallet, Anne Jolivet-Gougeon   +2 more
exaly   +2 more sources

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BRCA1 mutations and phenotype

Journal of Cancer Research and Clinical Oncology, 1997
More than 100 mutations have been described for the breast-cancer-susceptibility gene BRCA1. The paper describes phenotypical aspects of three selected mutations located at the beginning, in the middle, and at the end of the gene. A remarkable decrease of the age of diagnosis of the mammary carcinoma is observed with increasing length of the putative ...
K, Grade, K, Höffken, R, Kath, A, Nothnagel, E, Bender, S, Scherneck   +5 more
openaire   +2 more sources

Efficiency of carcinogenesis: Is the mutator phenotype inevitable?

Seminars in Cancer Biology, 2010
Cancer development requires multiple oncogenic mutations. Pathogenic mechanisms which accelerate this process may be favored carcinogenic pathways. Mutator mutations are mutations in genetic stability genes, and increase the mutation rate, speeding up the accumulation of oncogenic mutations.
Robert A Beckman
exaly   +3 more sources

Phenotypes of cells with cytoskeletal mutations

Current Opinion in Cell Biology, 1991
Analysis of the cytoskeleton has relied heavily on the identification of phenotypic alterations associated with mutations in cytoskeletal components. This approach has led to important findings for specific proteins. The last year has also strengthened the view that certain functions of the cytoskeleton are safeguarded by the presence of multiple ...
A A, Noegel, M, Schleicher
openaire   +2 more sources

PRRT2 mutations: exploring the phenotypical boundaries

Journal of Neurology, Neurosurgery & Psychiatry, 2013
Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene have been identified in patients with benign (familial) infantile convulsions (B(F)IC), infantile convulsions with choreoathetosis (ICCA) and paroxysmal dyskinesias (PDs). However it remains unknown whether PRRT2 mutations are causal in other epilepsy syndromes.
Djemie, Tania, Weckhuysen, S., Holmgren, Philippe, Hardies, K., Van Dyck, Tine, Hendrickx, Rik, Schoonjans, An-Sofie, Van Paesschen, W., Jansen, Anna, De Meirleir, Linda, Abdel Moteleb Selim, Laila, Girgis, Marian Y, Buyse, G., Lagae, Lieven, Smets, Katrien, Smouts, Iris, Claeys, K.g., Van Den Bergh, Vic, Grisar, Thierry, Blatt, Ilan, Shorer, Zamir, Roelens, Filip, Afawi, Zaid, Helbig, Ingo, Ceulemans, Berten, De Jonghe, Peter, Suls, Arvid   +26 more
openaire   +4 more sources

The phenotypic spectrum of ARX mutations

Developmental Medicine & Child Neurology, 2005
Mutations in the ARX gene can result in many different phenotypes, including phenotypes associated with severe brain malformations and less severe phenotypes associated with syndromic or non-syndromic forms of XLMR. There seems to be a consistent genotype-phenotype correlation and both interfamilial and intrafamilial variability of expression of some ...
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Mutation as a Phenotype

2006
Abstract The stability of DNA sequences across generations is dependent upon a diverse set of biochemical mechanisms that protect the DNA from predictable sources of damage that otherwise would be catastrophic. These biochemical mechanisms range from the repair of damage to nucleotide precursors or to DNA itself, to the replication past ...
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Expanding the phenotype of SORD mutation

Brain
We read with great interest the recent article by Cortese et al.1 titled ‘Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD’. This work significantly enhances our understanding of Charcot-Marie-Tooth (CMT)-SORD neuropathies—an autosomal recessive disorder resulting from SORD mutations that cause toxic sorbitol ...
Roxane Pruvost, Arnaud Bruneel, Nicolas Dochez, Grégory Kuchcinski, Vianney Poinsignon, Céline Tard   +5 more
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Identical mutations and phenotypic variation

Human Genetics, 1997
The relationship between pathogenetic mutations and disease phenotype is becoming increasingly complex. Well-delineated clinical entities can be genetically heterogeneous, and mutations in a particular gene may result in fundamental clinical differences.
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