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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 ...
Activating Mutations Cluster in the “Molecular Brake” Regions of Protein Kinases and Do Not Associate with Conserved or Catalytic Residues
(Wiley, 2014-03)
Mutations leading to activation of proto-oncogenic protein kinases (PKs) are a type of drivers crucial for understanding tumorogenesis and as targets for antitumor drugs. However, bioinformatics tools so far developed to ...
RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling
(Public Library of Science, 2017-12)
Retinoblastoma (RB) is an inherited childhood ocular cancer caused by mutations in the tumor suppressor RB1 gene. Identification of RB1 mutations is essential to assess the risk of developing retinoblastoma in the patients´ ...
GH-Releasing Hormone Receptor Gene: A Novel Splice-Disrupting Mutation and Study of Founder Effects
(KARGERBASEL, 2012)
Background: Mutations in GH-releasing hormone receptor gene (GHRHR) are emerging as the most common cause of autosomal recessive isolated GH deficiency (IGHD). Objective: To search for GHRHR mutations in patients with ...
La mutación constitucional en el Ecuador: ejercicio mediante el control de normas constitucionales referentes a derechos humanos
(Universidad de Cuenca, 2021-11-19)
Constitutional mutation was born in the Civil law system at the beginning of the
20th century, as a consequence of the extreme rigidity of the constitutions at that
time. After World War II, due to the importance that ...
“Brazilian mode mutation”: an empirical analysis of the article 52, x, of the 1998 constitution“Mutação à brasileira”: uma análise empírica do art. 52, x, da constituição
(Escola de Direito de São Paulo da Fundação Getulio Vargas, 2014)
Effects of cardiomyopathic mutations on the biochemical and biophysical properties of the human alpha-tropomyosin
(Blackwell Publishing, 2004-10-01)
Mutations in the protein alpha-tropomyosin (Tm) can cause a disease known as familial hypertrophic cardiomyopathy. In order to understand how such mutations lead to protein dysfunction, three point mutations were introduced ...
Effects of cardiomyopathic mutations on the biochemical and biophysical properties of the human alpha-tropomyosin
(Blackwell Publishing, 2004-10-01)
Mutations in the protein alpha-tropomyosin (Tm) can cause a disease known as familial hypertrophic cardiomyopathy. In order to understand how such mutations lead to protein dysfunction, three point mutations were introduced ...