A5008673335- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Chromosomal and Genetic Variations
- Cancer Genomics and Diagnostics
- Genetic Syndromes and Imprinting
- Porphyrin Metabolism and Disorders
- Genomics and Chromatin Dynamics
- Folate and B Vitamins Research
- Molecular Biology Techniques and Applications
- Cancer Cells and Metastasis
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Congenital heart defects research
- Acute Myeloid Leukemia Research
- RNA regulation and disease
- Genetics and Neurodevelopmental Disorders
- Biomedical Text Mining and Ontologies
- Genomics and Rare Diseases
- Congenital Anomalies and Fetal Surgery
- Cell Adhesion Molecules Research
- Prostate Cancer Treatment and Research
- Neonatal Health and Biochemistry
- Cancer Diagnosis and Treatment
- Genetic factors in colorectal cancer
- Protein Tyrosine Phosphatases
- Natural Language Processing Techniques
Hospital Universitari i Politècnic La Fe
2022
Pacific Clinical Research
2014-2018
University of California, San Francisco
2003-2017
Target (United States)
2017
Clinical Insights
2017
University College Dublin
2013-2015
Oakland University
2003-2012
Illumina (United States)
2012
CombiMatrix
2008-2011
Biopeptide (United States)
2011
Wolf-Hirschhorn syndrome (WHS) is a multiple malformation characterised by mental and developmental defects resulting from the absence of segment one chromosome 4 short arm (4p16.3). Due to complex variable expression this disorder, it thought that WHS contiguous gene with an undefined number genes contributing phenotype. In effort identify contribute human development whose results in syndrome, we have utilised series landmark cosmids characterise collection patient derived cell lines....
Abstract Costello syndrome (CS) is a complex developmental disorder involving characteristic craniofacial features, failure to thrive, delay, cardiac and skeletal anomalies, predisposition develop neoplasia. Based on similarities with other cancer syndromes, we previously hypothesized that CS likely due activation of signal transduction through the Ras/MAPK pathway [Tartaglia et al., 2003 ]. In this study, HRAS coding region was sequenced for mutations in large, well‐characterized cohort 36...
Significance Oxygen-sensing hydroxylases are a family of enzymes that control the cellular adaptive response to hypoxia. Hydroxylase inhibitors reduce inflammation in vivo; however, anti-inflammatory mechanism action remains unclear. IL-1β is cytokine potently promotes through activation transcription factor NF-κB. Here, we demonstrate hydroxylase inhibition leads suppression IL-1β–induced NF-κB activity and provide insight into underlying involved. This work develops our understanding how...
Recently, the human gene encoding erythroid-specific delta-aminolevulinate synthase was localized to chromosomal region Xp21-Xq21, identifying this as logical candidate for enzymatic defect causing "X-linked" sideroblastic anemia. To investigate hypothesis, 11 exonic coding regions of were amplified and sequenced from a 30-year-old Chinese male with pyridoxine-responsive form X-linked A single T----A transition found in codon 471 highly conserved exon 9, resulting an Ile----Asn substitution....
X-linked sideroblastic anemia (XLSA) is caused by muta- tions of the erythroid-specific 6-aminolevulinate synthase gene (ALAS2) resulting in deficient heme synthesis.The characteristic hypochromic, microcytic typically be- comes manifest first three decades life.Hematologic response to pyridoxine variable and rarely complete.We report two unrelated cases highly pyridoxine-responsive XLSA geriatric patients previously diagnosed with refractory ringed sideroblasts.A unaf- fected 77-yr-old male...
Periventricular heterotopia (PH) is characterized by neuronal nodules along the lateral ventricles. Whereas mutations in X-linked FLNA cause such cortical malformations, authors report two cases of PH localizing to chromosome 5p. Both subjects have complex partial seizures. MRI demonstrated bilateral nodular PH, with subcortical or focal gliosis. FISH identified a duplication 5p15.1 [46,XX,dup(5)(p15.1p15.1)] and trisomy 5p15.33 [46,XY,der(14)t(5;14)(p15.33;p11.2) mat]. These findings...
Troglitazone is a potent agonist for the peroxisome proliferator-activated receptor-γ (PPARγ) that ligandactivated transcription factor regulating cell differentiation and growth. PPARγ may play role in thyroid carcinogenesis since PAX8-PPARγ1 chromosomal translocations are commonly found follicular cancers. We investigated antiproliferative redifferentiation effects of troglitazone 6 human cancer lines: TPC-1 (papillary), FTC-133, FTC-236, FTC-238 (follicular), XTC-1 (Hürthle cell), ARO82-1...
Molecular profiling of prostate cancer with liquid biopsies, such as circulating tumor cells (CTCs) and cell-free nucleic acid analysis, yields informative yet distinct data sets. Additional insights may be gained by simultaneously interrogating multiple biopsy components to construct a more comprehensive molecular disease profile. We conducted an initial proof-of-principle study aimed at piloting this multiparametric approach. Peripheral blood samples from men metastatic castrate-resistant...
Cell adhesion molecules of the Ig superfamily are implicated in a wide variety biological processes, including cell migration, axon guidance and fasciculation, growth control tumorigenesis. Expression these proteins can be highly dynamic type specific, but little is known signals that regulate such specificity. Reported here molecular cloning characterization rat CDO, novel surface glycoprotein contains five Ig-like repeats, followed by three fibronectin III–like repeats its extracellular...
The recent demonstration of genomic imprinting DLK1 and MEG3 on human chromosome 14q32 indicates that these genes might contribute to the discordant phenotypes associated with uniparental disomy (UPD) 14. Regulation imprinted expression involves a differentially methylated region (DMR) encompasses promoter. We exploited normal differential methylation DLK1/MEG3 develop rapid diagnostic PCR assay based upon an individual's epigenetic profile. used methylation-specific multiplex in...
Abstract Background Circulating tumor (ct) DNA assays performed in clinical laboratories provide biomarker testing support for biopharmaceutical trials. Yet it is neither practical nor economically feasible many of these to internally develop their own liquid biopsy assay. Commercially available ctDNA kits are a potential solution seeking incorporate into test menus. However, the scarcity characterized patient samples and cost purchasing validation reference standards creates barrier entry....
Abstract Cardio‐facio‐cutaneous (CFC) syndrome is characterized by a distinct facial appearance, cardiac defects, ectodermal anomalies and developmental delay. Recently, we reported 19‐month‐old girl with phenotypic manifestations consistent the CFC who had an interstitial deletion of long arm chromosome 12, del(12)(q21.2q22), implicating possible locus for syndrome. Here, report additional patient cytogenetically identical deletion: 47,XYY,del(12)(q21.2q22). To further characterize this...
Irritable bowel syndrome (IBS) is characterized by abdominal discomfort and irregular movements stool consistency. As such, the gut microbiome has been posited as being influential for syndrome. However, identifying microbial features associated with IBS symptom heterogeneity difficult without large cohorts. Our aim was to identify subtypes compared healthy controls determine if a synbiotic supplementation intervention could decrease proportion of those features. Stool samples from 490...
Absence of the corpus callosum is often associated with cognitive deficits, autism, and epilepsy. Using a genomic microarray, authors analyzed DNA from 25 patients radiographically confirmed callosal anomalies identified three de novo copy number changes in chromosome regions 2q37, 6qter, 8p. Chromosomal deletions duplications may be relatively common cause cerebral malformations.
Abstract Biochemical networks are dynamic and multi-dimensional systems, consisting of tens or hundreds molecular components. Diseases such as cancer commonly arise due to changes in the dynamics signalling gene regulatory caused by genetic alternations. Elucidating network health disease is crucial better understand mechanisms derive effective therapeutic strategies. However, current approaches analyse visualise systems can often provide only low-dimensional projections dynamics, which does...