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nfxB as a Novel Target for Analysis of Mutation Spectra in Pseudomonas aeruginosa
(Public Library Science, 2013-06-07)
nfxB encodes a negative regulator of the mexCD-oprJ genes for drug efflux in the opportunistic pathogen Pseudomonas aeruginosa. Inactivating mutations in this transcriptional regulator constitute one of the main mechanisms ...
Clinical and molecular phenotype of Aicardi-Goutières syndrome
(2007-10-24)
Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3′→5′ ...
Mutational Profile of Homozygous β-Thalassemia in Rio de Janeiro, Brazil
(2017-01-02)
β-Thalassemia (β-thal) is a hemolytic anemia that is caused by point mutations in most cases. The Brazilian population is highly heterogeneous and knowledge of the mutations that make up the genotypic profile of individuals ...
The p.A2215D Thyroglobulin Gene Mutation Leads to Deficient Synthesis and Secretion of the Mutated Protein and Congenital Hypothyroidism with Wide Phenotype Variation
(ENDOCRINE SOC, 2009)
Context: Thyroglobulin (TG) is a large glycoprotein and functions as a matrix for thyroid hormone synthesis. TG gene mutations give rise to goitrous congenital hypothyroidism (CH) with considerable phenotype variation. ...
Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly
(Elsevier B.V., 2010-03-01)
Holoprosencephaly (HPE) is a malformation sequence where the cerebral hemispheres fail to separate into distinct left and right halves. It can be associated with midline structural anomalies of the central nervous system ...
Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib
(Soc Brasil GeneticaRibeirao PretBrasil, 2013)