A5080271377- Telomeres, Telomerase, and Senescence
- DNA Repair Mechanisms
- Acute Myeloid Leukemia Research
- Blood disorders and treatments
- Hematopoietic Stem Cell Transplantation
- RNA regulation and disease
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Hematological disorders and diagnostics
- RNA modifications and cancer
- Hemoglobinopathies and Related Disorders
- Erythrocyte Function and Pathophysiology
- Advanced biosensing and bioanalysis techniques
- Immunodeficiency and Autoimmune Disorders
- Blood groups and transfusion
- Genomics and Chromatin Dynamics
- Cytomegalovirus and herpesvirus research
- Skin Protection and Aging
- Epigenetics and DNA Methylation
- Acute Lymphoblastic Leukemia research
- Nuclear Structure and Function
- CRISPR and Genetic Engineering
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- melanin and skin pigmentation
- Chronic Lymphocytic Leukemia Research
- Multiple Myeloma Research and Treatments
Queen Mary University of London
2016-2025
Barts Health NHS Trust
2013-2024
Genomics England
2022
Genomics (United Kingdom)
2012-2022
National Health Service
2021-2022
Royal London Hospital
2007-2012
Children's Hospital
2011
Lymphatic Education & Research Network
2010
Hammersmith Hospital
1998-2008
United Nations Industrial Development Organization
2008
The guideline group was selected to be representative of UK-based aplastic anaemia (AA) medical experts. Recommendations are based on review the literature using MEDLINE and PUBMED up December 2014 under heading: 'aplastic anemia'. Grading Assessment, Development Evaluation (GRADE) nomenclature used evaluate levels evidence assess strength recommendations. GRADE criteria specified in BCSH guidance pack...
Dyskeratosis congenita is a premature aging syndrome characterized by muco-cutaneous features and range of other abnormalities, including early greying, dental loss, osteoporosis, malignancy. cells age prematurely have very short telomeres. Patients mutations in genes that encode components the telomerase complex (dyskerin, TERC, TERT, NOP10), important maintenance Many dyskeratosis patients remain uncharacterized. Here, we describe analysis two proteins, NHP2 GAR1, together with dyskerin...
Dyskeratosis congenita (DC) is characterized by multiple features including mucocutaneous abnormalities, bone marrow failure and an increased predisposition to cancer. It exhibits marked clinical genetic heterogeneity. DKC1 encoding dyskerin, a component of H/ACA small nucleolar ribonucleoprotein (snoRNP) particles mutated in X-linked recessive DC. Telomerase RNA (TERC), the TERT enzymatic telomerase, are autosomal dominant DC, suggesting that DC primarily disease defective telomere...
Dyskeratosis congenita (DC) and its phenotypically severe variant, Hoyeraal-Hreidarsson syndrome (HHS), are multisystem bone-marrow-failure syndromes in which the principal pathology is defective telomere maintenance. The genetic basis of many cases DC HHS remains unknown. Using whole-exome sequencing, we identified biallelic mutations RTEL1, encoding a helicase essential for maintenance regulation homologous recombination, an individual with familial HHS. Additional screening RTEL1 6/23...
Dyskeratosis congenita (DC) and related syndromes are inherited, life-threatening bone marrow (BM) failure disorders, approximately 40% of cases currently uncharacterized at the genetic level. Here, using whole exome sequencing (WES), we have identified biallelic mutations in gene encoding poly(A)-specific ribonuclease (PARN) 3 families with individuals exhibiting severe DC. PARN is an extensively characterized exonuclease deadenylation activity that controls mRNA stability part therefore...
Summary Pancytopenia with hypocellular bone marrow is the hallmark of aplastic anaemia (AA) and diagnosis confirmed after careful evaluation, following exclusion alternate including hypoplastic myelodysplastic syndromes. Emerging use molecular cyto‐genomics helpful in delineating immune mediated AA from inherited failures (IBMF). Camitta criteria used to assess disease severity, which along age availability human leucocyte antigen compatible donor are determinants for therapeutic decisions....
Hoyeraal-Hreidarsson (HH) syndrome is a multisystem disorder affecting boys characterized by aplastic anaemia (AA), immunodeficiency, microcephaly, cerebellar-hypoplasia and growth retardation. Its pathogenesis unknown. X-linked dyskeratosis congenita (DC) an inherited bone-marrow-failure skin pigmentation, nail dystrophy leucoplakia which usually develop towards the end of first decade life. AA occurs in >90% cases DC. We speculated that mutations gene responsible for DC (DKC1) may account...
The enzyme telomerase is essential for maintaining the replicative capacity of memory T cells. Although CD28 costimulatory signals can up-regulate activity, human CD8(+) cells lose expression after repeated activation. Nevertheless, still inducible in CD8(+)CD28(-) To identify alternative pathways that may be involved, we introduced chimeric receptors containing signaling domains CD28, CD27, CD137, CD134, and ICOS series with CD3 zeta (zeta) chain into primary zeta-chain alone were...