A5072452479- BRCA gene mutations in cancer
- Glycogen Storage Diseases and Myoclonus
- Lysosomal Storage Disorders Research
- Cancer Genomics and Diagnostics
- Virus-based gene therapy research
- Cutaneous Melanoma Detection and Management
- Genetic factors in colorectal cancer
- Cancer-related gene regulation
- Cinema History and Criticism
- Melanoma and MAPK Pathways
- Cancer Research and Treatments
- Hemophilia Treatment and Research
- Photographic and Visual Arts
- Advanced biosensing and bioanalysis techniques
- Carbohydrate Chemistry and Synthesis
- Vitamin C and Antioxidants Research
- Digestive system and related health
- Amino Acid Enzymes and Metabolism
- Diet and metabolism studies
- Pancreatic and Hepatic Oncology Research
- Diet, Metabolism, and Disease
- Alcoholism and Thiamine Deficiency
- Platelet Disorders and Treatments
- Vitamin K Research Studies
- Hedgehog Signaling Pathway Studies
Universidad Autónoma de Madrid
1991-2024
Hospital Universitario La Paz
1999-2021
Centre for Biomedical Network Research on Rare Diseases
2009-2013
Instituto de Investigación de Enfermedades Raras
2013
Instituto de Salud Carlos III
2009-2013
Centro de Investigación Biomédica en Red
2009-2012
University of North Carolina at Chapel Hill
1997-2000
University of Pennsylvania
1997
Children's Hospital of Philadelphia
1997
Hospital Universitario Ramón y Cajal
1990
Antimonene, a novel group 15 two-dimensional material, is functionalized with an oligonucleotide as first step to DNA sensor development. The functionalization process leads few-layer antimonene modified that after deposition on gold screen-printed electrodes gives simple and efficient electrochemical sensing platform. We provide theoretical experimental data of the DNA–antimonene interaction, confirming oligonucleotides interact noncovalently but strongly antimonene. potential utility this...
Before 2006, Pompe disease or glycogenosis storage type II was an incurable whose treatment merely palliative. The development of a recombinant human alpha-glucosidase enzymatic replacement therapy has become the first specific for this illness. aim guide is to serve as reference management late-onset disease, that develops after one year age. In group Spanish experts make recommendations about diagnosis, follow-up and With regard dried blood spots method essential step diagnosis disease....
Severe hemophilia B is a life-threatening, life long condition caused by absence of or defective coagulation factor IX. Gene therapy could provide an alternative treatment to repeated injection plasma-derived concentrate recombinant We have previously described the use implantable microcapsules containing myoblasts deliver human IX in mice. This study reports generation improved myoblast-specific expression vectors. Mouse myoblast clones transfected with various vectors secreted vitro, at...
Patients with mutation L394R in γ-glutamyl carboxylase have a severe bleeding disorder because of decreased biological activities all vitamin K-dependent coagulation proteins. Vitamin K administration partially corrects this deficiency. To characterize L394R, we purified recombinant mutant and wild-type expressed baculovirus-infected insect cells. By kinetic studies, analyzed the catalytic activity its binding to factor IX's propeptide KH<sub>2</sub>. Mutant differs from counterpart as...
Goals and Background: Hypolactasia affects over half of the world population. Diagnosis remains problematic as currently available tests, such hydrogen breath test, have low reliability lactose intolerance symptoms are unspecific. We evaluated diagnostic performance safety a new noninvasive test based on urine or serum measurement D-xylose after lactase cleavage orally administered 4-galactosylxylose (gaxilose). Study: In multicentre, open-label, nonrandomized, phase IIb-III study,...
In this study, we present a novel electrochemiluminescent DNA biosensor designed for detecting breast cancer type 1 (BRCA1) gene mutations. The integrates graphene nanosheets (Graph-NS), tetrahedral nanostructures (TDNs), and carbon nanodots (CNDs) to enhance sensitivity specificity. Graph-NS are employed structure the transducer serve as platform immobilization. TDNs engineered with BRCA1 gene-specific capture probe located at apex (TDN-BRCA1), facilitating efficient biorecognition....
Goals and Background: Hypolactasia is widespread, yet reliable diagnostic tests are lacking. A new test based on oral administration of 4-galactosylxylose (gaxilose) urine or serum measurement D-xylose after cleavage by intestinal lactase under clinical development. We investigated the optimal dose gaxilose calculate cutoff values for that dose. Study: In randomized, dose-finding, phase I study, pharmacokinetics were determined 6 ascending doses (and placebo) to 12 healthy adult volunteers....
In this study we have analyzed the factor IX gene from 84 hemophilia B patients of Spanish origin. It included single-strand conformation polymorphism (SSCP) analysis all functional regions and further sequencing fragments showing abnormal migration. 76 (90.4%), it was possible to identify molecular alterations leading appearance disease. Twenty-one new mutations were identified, including 13 missense mutations, two nonsense three splice-site one frameshift deletion, insertion,...
Abstract The identification of patients at risk for breast cancer by genetic testing has proven to reduce mortality. In 2010, due a lack systematization in hereditary assistance our center, we implemented multidisciplinary Heredofamilial Cancer Unit (HFCU). We analyze if the HFCU improved rates referrals and preventive management with risk. retrospectively compared family history records, high‐risk counseling, detection BRCA1/2 mutations two cohorts diagnosed before (first period: 2007–2010)...
Two patients with two and three types respectively of ground-glass hepatocyte inclusions are described. Both were hepatitis B surface antigen (HBsAG) positive received cyanamide for alcohol aversion therapy. In addition, one them had taken benzodiazepines barbiturates. patient, HBsAg co-existed in the same hepatocytes.
To report a patient with Huntington's disease, confirmed by molecular genetic study, presenting clinical features suggesting Tourette's syndrome.A thirty-years male personal antecedents of perinatal hypoxia, but normal development; and family history (paternal grandfather) 'abnormal repetitive movements the upper limbs' adult onset. He had multiple motor tics since teenage, associated vocal tics, bruxism, compulsions auto-and heteroaggresivity. Neurological examination showed in orolingual...
To analyse the evolution of a multidisciplinary heredofamilial cancer unit (HFCU) in university hospital.This was retrospective analysis activity our HFCU its first 5 years existence.Between July 2010 and 2015, 1,518 patients from 1,318 families attended HFCU. Genetic testing offered to 862 patients. Of those, 833 (96.6%) accepted testing, with available results for 636 (76.4%). Pathogenic mutations BRCA1 BRCA2 were found 175 Lynch syndrome adenomatous polyposis most frequent syndromes...