Assessment of Null Mutations in Glutathione S-transferases and Toll-Like Receptor 2 Polymorphism (Arg677trp) With Gastroduodenal Disorders in Helicobacter pylori–Infected Patients of Pakistan
Sign Up to like & getrecommendations! Published in 2018 at "American Journal of Clinical Pathology"
DOI: 10.1093/ajcp/aqy101.306
Abstract: Objectives: New tests are urgently needed for the diagnosis of TB disease. Serodiagnostic tests may be useful, as they may be easily adaptable into point-of-care tests. The aim of the current study was to evaluate… read more here.
Keywords: null mutations; assessment null; disease; diagnosis disease ... See more keywords
Fanconi Anemia and Ataxia Telangiectasia in Siblings who Inherited Unique Combinations of Novel FANCA and ATM Null Mutations
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000001336
Abstract: A unique consanguineous family with 2 genomic instability disorders, Fanconi anemia and ataxia telangiectasia, revealed exceptional combinations of null mutations in the FANCA and ATM genes. Two siblings with Fanconi anemia had novel homozygous consecutive… read more here.
Keywords: null mutations; ataxia telangiectasia; fanca atm; fanconi anemia ... See more keywords
Filaggrin null mutations are associated with altered circulating Tregs in atopic dermatitis
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Cellular and Molecular Medicine"
DOI: 10.1111/jcmm.14031
Abstract: Atopic dermatitis (AD) is a chronic inflammatory skin disease with a complex pathogenesis. Although regulatory T cells (Tregs) have previously been studied in AD, their role remains controversial, likely owing to patient heterogeneity. Thus, we… read more here.
Keywords: circulating tregs; null mutations; tregs; atopic dermatitis ... See more keywords