Crina Samarghitean
A5083297757- Immunodeficiency and Autoimmune Disorders
- Cystic Fibrosis Research Advances
- Genomics and Rare Diseases
- Immune Cell Function and Interaction
- Respiratory viral infections research
- Immune responses and vaccinations
- Genetic factors in colorectal cancer
- Telomeres, Telomerase, and Senescence
- Blood disorders and treatments
- Pulmonary Hypertension Research and Treatments
- Genetics and Neurodevelopmental Disorders
- Medical Imaging and Pathology Studies
- Retinal Development and Disorders
- NF-κB Signaling Pathways
- Single-cell and spatial transcriptomics
- RNA regulation and disease
- Pneumocystis jirovecii pneumonia detection and treatment
- Whipple's Disease and Interleukins
- BRCA gene mutations in cancer
- Glaucoma and retinal disorders
- Diabetes Treatment and Management
- Genetic Neurodegenerative Diseases
- Chronic Kidney Disease and Diabetes
- Lysosomal Storage Disorders Research
- Blood Pressure and Hypertension Studies
University of Cambridge
2018-2020
Cambridge University Hospitals NHS Foundation Trust
2020
AstraZeneca (United Kingdom)
2020
NHS Blood and Transplant
2018
Bridge University
2018
University of Samarra
2017
Tampere University
2004-2009
Tampere University of Applied Sciences
2004-2009
Tampere University Hospital
2009
Telomere length is a risk factor in disease and the dynamics of telomere are crucial to our understanding cell replication vitality. The proliferation whole genome sequencing represents an unprecedented opportunity glean new insights into biology on previously unimaginable scale. To this end, number approaches for estimating from whole-genome data have been proposed. Here we present Telomerecat, novel approach estimation length. Previous methods dependent telomeres being known, which may be...
The transcription factor STAT6 (Signal Transducer and Activator of Transcription 6) is a key regulator Th2 (T-helper 2) mediated allergic inflammation via the IL-4 (interleukin-4) JAK (Janus kinase)/STAT signalling pathway. We identified novel heterozygous germline mutation c.1255G > C, p.D419H leading to overactivity JAK/STAT pathway, in kindred affected by early-onset atopic dermatitis, food allergy, eosinophilic asthma, anaphylaxis follicular lymphoma. D419H expression functional activity...
The classification of diseases has several important applications ranging from diagnosis and choice treatment to demographics. To date, classifications have been successfully created manually, often within international consortia. Some groups diseases, such as primary immunodeficiencies (PIDs), are especially hard nosologically cluster due, on one hand, the presence a wide variety disorders and, in contrast, because overlapping characteristics. More than 200 PIDs affecting components innate...
Background The ImmunoDeficiency Resource (IDR) is a knowledge base for the integration of clinical, biochemical, genetic, genomic, proteomic, structural, and computational data primary immunodeficiencies. need IDR arises from lack structured systematic information about immunodeficiencies on Internet, common platform which enables doctors, researchers, students, nurses patients to find out validated these diseases. Description base, first released in 1999, has grown substantially. It...
Expert systems, or decision support are artificial intelligence systems that have been trained with real cases to perform complicated tasks. They used in a variety of areas and among the most popular application fields intelligence. applications different medicine. Here we present short history medical expert characteristics these systems. Medical were initially developed for academic later clinical also. Health care produce tremendous amounts information (patient, demographic, billing...
Abstract Primary immunodeficiency (PID) is characterised by recurrent and often life-threatening infections, autoimmunity cancer, it presents major diagnostic therapeutic challenges. Although the most severe forms present in early childhood, majority of patients adulthood, typically with no apparent family history a variable clinical phenotype widespread immune dysregulation: about 25% have autoimmune disease, allergy prevalent, up to 10% develop lymphoid malignancies 1–3 . Consequently,...