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Identification of miRNA variants targeting BRCA genes in familial breast cancer
(Spandidos Publications Ltd., 2017)
Germline variants in driver genes of breast cancer and their association with familial and early-onset breast cancer risk in a chilean population
(MDPI, 2020)
The genetic variations responsible for tumorigenesis are called driver mutations. In breast cancer (BC), two studies have demonstrated that germline mutations in driver genes linked to sporadic tumors may also influence ...
Clinical features and possible founder mutation of the 8bp duplication mutation in the SLC4A11 gene causing corneal dystrophy and perceptive deafness in three South American families
(Taylor and Francis Ltd, 2019)
Background: Corneal Dystrophy and Perceptive Deafness (CDPD) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital corneal opacities and progressive sensorineural hearing loss, which ...
IurV, encoded by ORF VCA0231, is involved in the regulation of iron uptake genes in vibrio cholerae
(MDPI, 2020)
The pathogen Vibrio cholerae has multiple iron acquisition systems which allow bacteria to exploit a variety of iron sources across the different environments on which it thrives. The expression of such iron uptake systems ...
NOTCH3 gene mutation in a chilean cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy family
(Elsevier, 2020)
Introduction: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary stroke disorder caused by mutations in the NOTCH3 gene. We report the first Chilean ...
The ADP-dependent Sugar Kinase Family: Kinetic and Evolutionary Aspects
(JOHN WILEY & SONS INC, 2009-03-28)
Some archaea of the Euryarchaeota present a unique version
of the Embden–Meyerhof pathway where glucose and fructose-
6-phosphate are phoshporylated using ADP instead of ATP as
the phosphoryl donor. These are the only ...
Identification of a rare germline heterozygous deletion involving the polycistronic miR-17-92 cluster in two first degree relatives from a BRCA 1/2 negative chilean family with familial breast cancer: possible functional implications
(MDPI, 2018)
Micro-RNAs (miRNAs) have emerged as novel gene expression regulators. Recent evidence strongly suggests a role for miRNAs in a large variety of cancer-related pathways. Different studies have shown that 18.7 to 37% of all ...
Porfiria variegata en Chile: identificación de mutaciones en el gen protoporfirinógeno oxidasa y su implicancia diagnóstica
(INST NACIONAL NUTRICION, 2006-08)
Variegate porphyria (VP) results from a hereditary deficiency of protoporphyrinogen oxidase (PPOX) that is transmitted in an autosomal dominan fashion. The diagnosis is based on the clinical symptoms and is confirmed ...
Heritable genomic diversity in breast cancer driver genes and associations with risk in a chilean population
(BMC, 2022)
Background Driver mutations are the genetic components responsible for tumor initiation and progression. These variants, which may be inherited, influence cancer risk and therefore underlie many familial cancers. The present ...
Chaski, a novel drosophila lactate/pyruvate transporter required in glia cells for survival under nutritional stress
(Nature Publishing Group, 2018)
The intercellular transport of lactate is crucial for the astrocyte-to-neuron lactate shuttle (ANLS), a model of brain energetics according to which neurons are fueled by astrocytic lactate. In this study we show that the ...