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Nature communications, ISSN 2041-1723, 2018, Volume 9, Issue 1, pp. 2280 - 14
Defects in DNA repair can cause various genetic diseases with severe pathological phenotypes. Fanconi anemia ( FA) is a rare disease characterized by bone... 
UBIQUITINATION | DAMAGE RESPONSE | CHROMATIN | CROSS-LINK REPAIR | HUMAN-CELLS | MULTIDISCIPLINARY SCIENCES | SENSITIVITY | BRCA1 | ENRICHMENT ANALYSIS | ASSOCIATION | NUCLEASE | Genetic Therapy | Ubiquitin-Specific Proteases - genetics | Fanconi Anemia Complementation Group D2 Protein - genetics | Fanconi Anemia - metabolism | Humans | DNA Repair - physiology | DNA Repair - genetics | Fanconi Anemia Complementation Group C Protein - genetics | Fanconi Anemia Complementation Group A Protein - genetics | Fanconi Anemia Complementation Group D2 Protein - deficiency | Fanconi Anemia Complementation Group A Protein - metabolism | Fanconi Anemia Complementation Group Proteins - metabolism | Ubiquitination | Fanconi Anemia Complementation Group G Protein - genetics | Ubiquitin-Specific Proteases - deficiency | Fanconi Anemia Complementation Group G Protein - deficiency | BRCA1 Protein - metabolism | Fanconi Anemia - genetics | Ubiquitin-Specific Proteases - metabolism | Chromosomal Instability | Rad51 Recombinase - metabolism | Cell Line | Fanconi Anemia Complementation Group Proteins - deficiency | Fanconi Anemia Complementation Group Proteins - genetics | Fanconi Anemia Complementation Group G Protein - metabolism | Gene Knockout Techniques | Fanconi Anemia Complementation Group C Protein - metabolism | Fanconi Anemia Complementation Group D2 Protein - metabolism | Fanconi Anemia Complementation Group A Protein - deficiency | CRISPR-Cas Systems | Fanconi Anemia Complementation Group C Protein - deficiency | Fanconi Anemia - therapy | DNA Damage | Histones - metabolism | Mutation | Phenotypes | Stability | Deactivation | BRCA1 protein | Anemia | Abnormalities | DNA damage | Genotoxicity | Health risks | Crosslinking | Breast cancer | Genomes | Inactivation | Fanconi syndrome | DNA repair | Screens | Genomic instability | FANCC protein | Bone cancer | Bone marrow | Repair | Deoxyribonucleic acid--DNA | Cancer
Journal Article
Biology of Blood and Marrow Transplantation, ISSN 1083-8791, 2017, Volume 23, Issue 9, pp. 1422 - 1428
Abstract Patients with inherited bone marrow failure syndromes (IBMFS) such as Fanconi anemia (FA), dyskeratosis congenita (DC), and Diamond Blackfan anemia... 
Hematology, Oncology and Palliative Medicine | Late effects | Dyskeratosis congenita | Pediatric allogeneic hematopoietic cell transplant | Fanconi anemia | Diamond Blackfan anemia | Inherited bone marrow failure syndromes | LONG-TERM SURVIVORS | Pediatric allogeneic | 4 DECADES | NATIONAL-CANCER-INSTITUTE | IMMUNOLOGY | BIALLELIC MUTATIONS | FANCONI-ANEMIA | CHILDREN | TRANSPLANTATION | hematopoietic cell transplant | INSTITUTE/PEDIATRIC BLOOD | DYSKERATOSIS-CONGENITA | DIAMOND-BLACKFAN ANEMIA | HEMATOLOGY | APLASTIC-ANEMIA | Bone Marrow Diseases - diagnosis | Humans | Anemia, Diamond-Blackfan - immunology | Hemoglobinuria, Paroxysmal - pathology | Anemia, Diamond-Blackfan - mortality | Dyskeratosis Congenita - mortality | Anemia, Aplastic - therapy | Fanconi Anemia - mortality | Transplantation, Homologous | Hemoglobinuria, Paroxysmal - immunology | Anemia, Aplastic - diagnosis | Bone Marrow Diseases - therapy | Dyskeratosis Congenita - diagnosis | Dyskeratosis Congenita - therapy | Anemia, Diamond-Blackfan - therapy | Hemoglobinuria, Paroxysmal - diagnosis | Child | Anemia, Aplastic - pathology | Hematopoietic Stem Cell Transplantation | International Cooperation | Bone Marrow Diseases - pathology | Consensus Development Conferences as Topic | Anemia, Diamond-Blackfan - diagnosis | Consensus | Fanconi Anemia - diagnosis | Bone Marrow Diseases - immunology | Survival Analysis | Fanconi Anemia - immunology | Fanconi Anemia - therapy | Hemoglobinuria, Paroxysmal - therapy | Dyskeratosis Congenita - immunology | Anemia, Aplastic - immunology | Pediatrics | Conferences, meetings and seminars | Immunodeficiency | Bone marrow | Genetic aspects | Transplantation | Medical screening | Conferences and conventions | Hematopoietic stem cells | Fanconi's anemia | Medical research | Epidemiology | Diseases | Medicine, Experimental | Children | dyskeratosis congenita | pediatric allogeneic hematopoietic cell transplant | late effects | inherited bone marrow failure syndromes
Journal Article
Molecular cell, ISSN 1097-2765, 2017, Volume 65, Issue 2, pp. 247 - 259
Monoubiquitination and deubiquitination of FANCD2:FANCI heterodimer is central to DNA repair in a pathway that is defective in the cancer predisposition... 
core complex | RING E3 | Fanconi anemia | FANCD2 | deubiquitination | FANCB | enzyme mechanism | monoubiquitination | DNA repair | NUCLEAR ACCUMULATION | MONOUBIQUITINATED FANCD2 | TARGETED DISRUPTION | COMPLEX | DNA-REPAIR PATHWAY | CROSS-LINK REPAIR | BIOCHEMISTRY & MOLECULAR BIOLOGY | PROTEINS | DAMAGE | COMPLEMENTATION GROUP-B | LIGASE | CELL BIOLOGY | Fanconi Anemia Complementation Group D2 Protein - genetics | Fanconi Anemia - metabolism | Humans | Multiprotein Complexes | Protein Multimerization | Substrate Specificity | Fanconi Anemia Complementation Group A Protein - metabolism | DNA-Binding Proteins - metabolism | Fanconi Anemia Complementation Group Proteins - metabolism | Ubiquitination | Transfection | Time Factors | Fanconi Anemia - genetics | Ubiquitin-Specific Proteases - metabolism | Recombinant Proteins - metabolism | Cell Line | Fanconi Anemia Complementation Group Proteins - genetics | Nuclear Proteins - metabolism | Fanconi Anemia Complementation Group G Protein - metabolism | DNA - metabolism | Inhibitor of Differentiation Protein 2 - metabolism | DNA - genetics | Fanconi Anemia Complementation Group C Protein - metabolism | Fanconi Anemia Complementation Group D2 Protein - metabolism | Protein Binding | Fanconi Anemia Complementation Group L Protein - metabolism | Fanconi Anemia Complementation Group E Protein - metabolism | Ubiquitin | Chemotherapy | Ligases | Genomics | Research institutes | Cancer | Fanconi's anemia | Proteins | Medical research | Molecular genetics | Medicine, Experimental
Journal Article
2007, ISBN 9781860946455
Book
Book
Best practice & research. Clinical obstetrics & gynaecology, ISSN 1521-6934, 2012, Volume 26, Issue 1, pp. 3 - 24
Anaemia in pregnancy, defined as a haemoglobin concentration (Hb) < 110 g/L, affects more than 56 million women globally, two thirds of them being from Asia.... 
Obstetrics and Gynecology | haemolytic uraemic syndrome | anaemia | B12 | oral iron and folate | paroxysmal nocturnal haemoglobionuria | haemolytic | delayed cord clamping | nutritional iron deficiency | pregnancy | supplementation | thrombotic thrombocytopaenic purpura | HEMOLYTIC-UREMIC SYNDROME | NEURAL-TUBE DEFECTS | MEMBRANE-PROTEIN | IRON-DEFICIENCY ANEMIA | FACTOR-H | PAROXYSMAL-NOCTURNAL HEMOGLOBINURIA | THROMBOTIC THROMBOCYTOPENIC PURPURA | FOLIC-ACID SUPPLEMENTATION | FACTOR-CLEAVING PROTEASE | OBSTETRICS & GYNECOLOGY | PLASMA-EXCHANGE | Pregnancy Complications, Hematologic - prevention & control | Anemia, Pernicious - prevention & control | Humans | Anemia - diagnosis | Folic Acid Deficiency - therapy | Anemia - prevention & control | Anemia - therapy | Anemia, Pernicious - therapy | Vitamin B 12 Deficiency - therapy | Anemia, Iron-Deficiency - prevention & control | Anemia, Iron-Deficiency - therapy | Anemia, Pernicious - diagnosis | Pregnancy | Folic Acid Deficiency - complications | Anemia, Hemolytic - therapy | Anemia, Iron-Deficiency - diagnosis | Pregnancy Complications, Hematologic - therapy | Vitamin B 12 Deficiency - complications | Anemia, Hemolytic - diagnosis | Female | Pregnancy Complications, Hematologic - diagnosis | Pregnancy Complications, Hematologic - etiology | Anemia - etiology | Pregnant women | Health aspects | Folic acid
Journal Article
PloS one, ISSN 1932-6203, 04/2015, Volume 10, Issue 4, p. e0125086
[This corrects the article DOI: 10.1371/journal.pone.0113756.]. 
Anemia
Journal Article
Biology of blood and marrow transplantation, ISSN 1083-8791, 05/2017, Volume 23, Issue 5, pp. 726 - 735
Fanconi anemia (FA), dyskeratosis congenita (DC), and Diamond Blackfan anemia (DBA) are 3 of the most common inherited bone marrow failure syndromes (IBMFS),... 
Pediatric allogeneic hematopoietic cell transplantation | Late effects | Dyskeratosis congenita | Fanconi anemia | Diamond Blackfan anemia | Inherited bone marrow failure syndromes | OXIDATIVE STRESS | 4 DECADES | INTENSITY CONDITIONING REGIMEN | IMMUNOLOGY | BIALLELIC MUTATIONS | FANCONI-ANEMIA | CHILDREN | TRANSPLANTATION | DYSKERATOSIS-CONGENITA | DISEASE | DIAMOND-BLACKFAN ANEMIA | HEMATOLOGY | APLASTIC-ANEMIA | Bone Marrow Diseases - complications | Fanconi Anemia - complications | Practice Guidelines as Topic - standards | Humans | Biomedical Research - trends | Forecasting | Anemia, Aplastic - therapy | Dyskeratosis Congenita - complications | Bone Marrow Diseases - therapy | Dyskeratosis Congenita - therapy | Long Term Adverse Effects | Hematopoietic Stem Cell Transplantation - adverse effects | Anemia, Diamond-Blackfan - therapy | Biomedical Research - methods | Fanconi Anemia - therapy | Hematopoietic Stem Cell Transplantation - methods | Hemoglobinuria, Paroxysmal - therapy | Anemia, Diamond-Blackfan - complications | Anemia, Aplastic - complications | Child | Hemoglobinuria, Paroxysmal - complications | Pediatrics | Conferences, meetings and seminars | Immunodeficiency | Bone marrow | Genetic aspects | Transplantation | Medical screening | Conferences and conventions | Hematopoietic stem cells | Fanconi's anemia | Medical research | Medicine, Experimental
Journal Article
The Lancet (British edition), ISSN 0140-6736, 2010, Volume 376, Issue 9757, pp. 2018 - 2031
Summary Sickle-cell disease is one of the most common severe monogenic disorders in the world. Haemoglobin polymerisation, leading to erythrocyte rigidity and... 
Internal Medicine | FETAL-HEMOGLOBIN LEVELS | MEDICINE, GENERAL & INTERNAL | HOSPITAL ADMISSIONS | RISK-FACTORS | PULMONARY-HYPERTENSION | ACUTE CHEST SYNDROME | HYDROXYUREA THERAPY | NITRIC-OXIDE | ADHESION MOLECULES | ACUTE VASOOCCLUSIVE CRISIS | PLASMODIUM-FALCIPARUM MALARIA | Haplotypes | Antisickling Agents - therapeutic use | Acute Chest Syndrome - etiology | Acute Chest Syndrome - therapy | Humans | Pain Management | Hypertension, Pulmonary - therapy | Blood Transfusion | Anemia, Sickle Cell - epidemiology | Erythrocytes - pathology | Pain - etiology | Anemia, Sickle Cell - classification | Hemolysis | Severity of Illness Index | Gene Transfer Techniques | Iron Chelating Agents - therapeutic use | Disease Susceptibility | Anemia, Sickle Cell - complications | Africa | Hematopoietic Stem Cell Transplantation | Polymerization | Nervous System Diseases - therapy | Anemia, Sickle Cell - therapy | Heart Diseases - etiology | Mass Screening | Heart Diseases - therapy | Kidney Diseases - therapy | Nervous System Diseases - etiology | Hydroxyurea - therapeutic use | Anemia, Sickle Cell - blood | Anemia, Sickle Cell - diagnosis | Kidney Diseases - etiology | Hypertension, Pulmonary - etiology | Hematopoietic Stem Cells | Care and treatment | Sickle cell anemia | Hemoglobin | Development and progression | Diagnosis | Health aspects | Risk factors | Disease | Rodents | Nitric oxide | Mutation | Gene therapy | Epidemiology | Federal funding
Journal Article