A5067073627- Acute Myeloid Leukemia Research
- Telomeres, Telomerase, and Senescence
- DNA Repair Mechanisms
- RNA modifications and cancer
- RNA Research and Splicing
- Blood disorders and treatments
- Metabolism and Genetic Disorders
- Molecular Biology Techniques and Applications
- Orthopedic Surgery and Rehabilitation
- Hemoglobinopathies and Related Disorders
- Epigenetics and DNA Methylation
- Congenital limb and hand anomalies
- Elbow and Forearm Trauma Treatment
- RNA and protein synthesis mechanisms
- Birth, Development, and Health
- RNA regulation and disease
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- RNA Interference and Gene Delivery
- Connexins and lens biology
- Advanced biosensing and bioanalysis techniques
- Cancer Genomics and Diagnostics
- Muscle Physiology and Disorders
- Sexual Differentiation and Disorders
- Immunodeficiency and Autoimmune Disorders
- Genomics and Chromatin Dynamics
Queen Mary University of London
2016-2021
Abstract The inclusion of familial myeloid malignancies as a separate disease entity in the revised WHO classification has renewed efforts to improve recognition and management this group at risk individuals. Here we report cohort 86 acute leukemia (AML) myelodysplastic syndrome (MDS) families with 49 harboring germline variants 16 previously defined loci (57%). Whole exome sequencing further 37 uncharacterized (43%) allowed us rationalize 65 new candidate loci, including genes mutated rare...
Saudi Arabian Ministry of Higher Education through a doctoral scholarship awarded to A.F.A.S. and Bloodwise Programme grant (14032) J.F., T.V., I.D.
Dyskeratosis congenita is a highly pleotropic genetic disorder. This heterogeneity can lead to difficulties in making an accurate diagnosis and delays appropriate management. The aim of this study was determine the underlying basis patients presenting with features dyskeratosis who were negative for mutations classical genes. By whole exome targeted sequencing, we identified biallelic variants genes that are not associated 17 individuals from 12 families. Specifically, these homozygous USB1...
Significance Bone marrow failure (BMF) is an inherited life-threatening condition characterized by defective hematopoiesis, developmental abnormalities, and predisposition to cancer. BMF caused ERCC6L2 mutations considered be a genome instability syndrome, because DNA repair compromised in patient cells. In this study, we report cases with biallelic disease-causing variants provide evidence from patients’ cells that transcription deficiency can explain the instability. Specifically,...
Abstract Telomere biology disorders are complex clinical conditions that arise due to mutations in genes required for telomere maintenance. length has been utilised as part of the diagnostic work-up patients with these diseases; here, we have tested utility high-throughput STELA (HT-STELA) this purpose. HT-STELA was applied a cohort unaffected individuals ( n = 171) and retrospective mutation carriers 172). displayed low measurement error inter- intra-assay coefficient variance 2.3% 1.8%,...
Inherited bone marrow failure (BMF) syndromes are a heterogeneous group of diseases characterized by defective hematopoiesis and often predisposing to myelodysplastic syndrome (MDS) acute myelogenous leukemia. We have studied large family consisting several affected individuals with hematologic abnormalities, including one member who died By whole-exome sequencing, we identified novel frameshift variant in the ubiquitously expressed transcription factor specificity protein 1 (SP1). This...