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Mostrando ítems 11-20 de 301
Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor β gene
(2009)
Thyroid Hormone Receptor β (THRB) defects, typically transmitted as autosomal dominant traits, cause Resistance to Thyroid Hormone (RTH). We analyzed the THRB gene in thirteen South American patients with clinical evidence ...
Novel genotypes in Helicobacter pylori involving domain V of the 23S rRNA gene
(BLACKWELL PUBLISHING, 2007-10)
Helicobacter pylori
is a pathogenic bacterium that infects a half of
the human population. In Chile, between 55% and 79% of people are colonized
by
H. pylori
. At present, therapeutic strategies to eradicate the ...
Familial tumoral calcinosis caused by a novel FGF23 mutation: Response to induction of tubular renal acidosis with acetazolamide and the non-calcium phosphate binder sevelamer
(2009)
Hyperphosphatemic familial tumoral calcinosis (HFTC) is an uncommon disease characterized by periarticular calcifications produced by the deposition of amorphous extraosseous calcifications of hydroxyapatite. It is associated ...
Detection of genes mutations in the K-ras, H-ras and EGFR in samples of blood plasma and cervical smears for patients with cervical intraepithelial neoplasia III and cervical cancer.
(2011-12-20)
Introduction: Cervical cancer is the second most important cancer in women worldwide, and the second cause of cancer
death in women. It has been shown that the process of cervical carcinogenesis presents as genetic and ...
Label-free oligonucleotide-based SPR biosensor for the detection of the gene mutation causing prothrombin-related thrombophilia
(MDPI, 2020)
Prothrombin-related thrombophilia is a genetic disorder produced by a substitution of a single DNA base pair, replacing guanine with adenine, and is detected mainly by polymerase chain reaction (PCR). A suitable alternative ...
Novel intronic mutation of MEN1 gene causing familial isolated primary hyperparathyroidism
(ENDOCRINE SOC, 2004-08)
Primary hyperparathyroidism may occur as part of hereditary syndromes, including multiple endocrine neoplasia types 1 and 2A (MEN1 and MEN2A), hyperparathyroidism-jaw tumor syndrome, and the familial isolated hyperparathyroidism ...
Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families
(SPRINGER, 2011-04)
The distribution of BRCA1/2 germline mutations in breast/ovarian cancer (BC/OC) families varies among different populations. In the Chilean population, there are only two reports of mutation analysis of BRCA1/2, and these ...
The molecular basis of porphyria cutanea tarda in Chile: Identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene
(BLACKWELL MUNKSGAARD, 2004-06)
The porphyrias are heterogeneous disorders arising from predominantly inherited catalytic deficiencies of specific enzymes in heme biosynthesis. Porphyria cutanea tarda (PCT) results from a decreased activity of uroporphyrinogen ...
RNA Sequencing of hepatobiliary cancer cell lines: Data and applications to mutational and transcriptomic profiling
(MDPI, 2020)
Simple Summary Research on gallbladder cancer (GBC) has been largely neglected and molecular GBC data is underrepresented in public databases. Cancer cell lines constitute a valuable tool to examine the mechanisms of ...
The E180splice Mutation in the GHR Gene Causing Laron Syndrome: Witness of a Sephardic Jewish Exodus from the Iberian Peninsula to the New World?
(Wiley, 2014)
Laron syndrome(LS) is a genetic disorder caused by mutations in
the growth hormone receptor (GHR) gene. The most frequent
GHR mutation is E180splice (rs121909360), which was initially
found in an inbred population of ...