26 Result(s)
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María T. Zarrabeitia
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Article
The prosecutor's and defendant's Bayesian nomograms
Two nomograms to calculate posterior odds and probabilities in forensic cases according to Bayes' theorem are presented.
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Article
Sequence structure and population data of two X-linked markers: DXS7423 and DXS8377
DXS7423 and DXS8377 are two microsatellite markers located in the q28 band of chromosome X. We developed a protocol to amplify both markers in a single reaction, sequenced the most common alleles and studied ...
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Spanish population data and forensic usefulness of a novel Y-STR set (DYS437, DYS438, DYS439, DYS460, DYS461, GATA A10, GATA C4, GATA H4)
DNA ty** of 8 recently described STRs on the Y chromosome was carried out by means of 2 multiplex amplification reactions for 134 unrelated males from Cantabria, a region in northern Spain. Multiplex 1 inclu...
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Significance of micro-geographical population structure in forensic cases: a bayesian exploration
We studied the influence of population structure at the microgeographical level on the analysis of forensic cases. A total of nine autosomal STRs and seven Y-STRs were analyzed in the general mixed population ...
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Article
Association of the F352V variant of the Klotho gene with bone mineral density
Klotho gene codes for a protein with glucuronidase activity and is thought to influence bone and vascular homeostasis. We studied the relationship of a common T/G polymorphism, resulting in a phenylalanine (F)...
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Forensic efficiency of microsatellites and single nucleotide polymorphisms on the X chromosome
Polymorphisms located on the X chromosome are being increasingly used in forensic studies. However, they have not been studied as extensively as the autosomal and Y-linked polymorphisms. Therefore, we planned ...
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Article
Open AccessGenetic polymorphisms are associated with serum levels of sex hormone binding globulin in postmenopausal women
Estrogen activity plays a critical role in bone homeostasis. The serum levels of sex hormone binding globulin (SHBG) influence free estrogen levels and activity on target tissues. The objective of this study w...
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Open AccessHaplotypes of intron 4 of the estrogen receptor alpha gene and hip fractures: a replication study in Caucasians
Despite their great impact, few genetic association studies have used hip fractures as an endpoint. However, the association of two polymorphisms on intron 4 of estrogen receptor alpha (ESR1) with hip fractures w...
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Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture
Fernando Rivadeneira and colleagues in the Genetic Factors for Osteoporosis Consortium report a large-scale meta-analysis identifying new loci associated with bone mineral density (BMD) and risk of fracture. T...
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Article
miRNA analysis in vitreous humor to determine the time of death: a proof-of-concept pilot study
We hypothesized that miRNAs present in vitreous humor could be a sort of “biological black box,” storing information about physiological and environmental circumstances at death. As a proof of concept, we anal...
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Development and validation of a multiplex reaction analyzing eight miniSTRs of the X chromosome for identity and kinship testing with degraded DNA
We report the development of an effective system for analyzing X chromosome-linked mini short tandem repeat loci with reduced-size amplicons (less than 220 bp), useful for analyzing highly degraded DNA samples...
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Article
Wnt-related genes and large-joint osteoarthritis: association study and replication
Osteoarthritis (OA) has a strong genetic component, and experimental evidence suggests the involvement of the Wnt pathway in its pathogenesis. Hence, we explored the association of common single nucleotide pol...
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Polymorphisms of the farnesyl diphosphate synthase gene modulate bone changes in response to atorvastatin
Although their primary therapeutic indications are different, aminobisphosphonates and statins target enzymes in the mevalonate pathway, which is critical for bone homeostasis. Previous studies have shown tha...
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A Sclerostin Super-Producer Cell Line Derived from the Human Cell Line SaOS-2: A New Tool for the Study of the Molecular Mechanisms Driving Sclerostin Expression
Sclerostin, the product of the SOST gene, is a key regulator of bone homeostasis. Sclerostin interferes with the Wnt signalling pathway and, therefore, has a negative effect on bone formation. Although the imp...
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Exon array analysis reveals genetic heterogeneity in atypical femoral fractures. A pilot study
Atraumatic subtrochanteric and diaphyseal (atypical) femoral fractures are a rare, but important adverse event in patients treated with potent anti-resortive agents. The mechanisms involved are unknown and par...
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Osterix and RUNX2 are Transcriptional Regulators of Sclerostin in Human Bone
Sclerostin, encoded by the SOST gene, works as an inhibitor of the Wnt pathway and therefore is an important regulator of bone homeostasis. Due to its potent action as an inhibitor of bone formation, blocking scl...
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Indel analysis by droplet digital PCR: a sensitive method for DNA mixture detection and chimerism analysis
Several methods have been developed to determinate genetic profiles from a mixed samples and chimerism analysis in transplanted patients. The aim of this study was to explore the effectiveness of using the dro...
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The Influence of Nitrogen Dioxide on Arrhythmias in Spain and Its Relationship with Atmospheric Circulation
Epidemiological studies suggest that increased ambient NO2 concentrations are associated with cardiovascular disease. However, none of them have examined the association between ambient air pollution and cardiac ...
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Stroke: Temporal Trends and Association with Atmospheric Variables and Air Pollutants in Northern Spain
Stroke, the second cause of death and the most frequent cause of severe disability among adults in developed countries, is related to a large variety of risk factors. This paper assesses the temporal patterns ...
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Article
Open AccessAnalysis of the R1b-DF27 haplogroup shows that a large fraction of Iberian Y-chromosome lineages originated recently in situ
Haplogroup R1b-M269 comprises most Western European Y chromosomes; of its main branches, R1b-DF27 is by far the least known, and it appears to be highly prevalent only in Iberia. We have genotyped 1072 R1b-DF2...
