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2007, ISBN 9781860946455
Book
2011, ISBN 0691123179, 368
In the 1980s, a research team led by Parisian scientists identified several unique DNA sequences, or haplotypes, linked to sickle cell anemia in African... 
Social aspects | Senegal | Sickle cell anemia | Services for | Genetic disorders | Sociology | Kinship | Anthropology | Genetic aspects | History | Patients | Health aspects | SOCIAL SCIENCE | Disease & Health Issues | Cultural
eBook
Molecular cell, ISSN 1097-2765, 01/2017, 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 | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | 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 | Index Medicus
Journal Article
Book
Nature communications, 06/2018, Volume 9, Issue 1, p. 2280
Defects in DNA repair can cause various genetic diseases with severe pathological phenotypes. Fanconi anemia (FA) is a rare disease characterized by bone... 
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
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 | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | 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 | Index Medicus | Abridged Index Medicus
Journal Article
by Kou, K and Mak, A and Poon, C and Leung, K.Y
Ultrasound in obstetrics & gynecology, ISSN 0960-7692, 09/2014, Volume 44, Issue S1, pp. 293 - 293
Journal Article
Journal of biomedical science, ISSN 1021-7770, 09/2015, Volume 22, Issue 1, pp. 77 - 77
Background: Cisplatin is one of the most commonly used chemotherapy agent for lung cancer. The therapeutic efficacy of cisplatin is limited by the development... 
RNA interference | Fanconi anemia/BRCA pathway | Lung cancer | Cisplatin | Chemoresistance | Core complex | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | Lung Neoplasms - genetics | Lung Neoplasms - drug therapy | Fanconi Anemia Complementation Group D2 Protein - genetics | Humans | Lung Neoplasms - metabolism | Fanconi Anemia Complementation Group F Protein - metabolism | Fanconi Anemia Complementation Group L Protein - genetics | Fanconi Anemia Complementation Group D2 Protein - antagonists & inhibitors | Lung Neoplasms - pathology | Signal Transduction - genetics | Cisplatin - pharmacology | Fanconi Anemia Complementation Group F Protein - genetics | Fanconi Anemia Complementation Group L Protein - antagonists & inhibitors | BRCA1 Protein - genetics | Drug Resistance, Neoplasm - genetics | BRCA1 Protein - antagonists & inhibitors | Fanconi Anemia Complementation Group D2 Protein - metabolism | RNA Interference | Signal Transduction - drug effects | BRCA1 Protein - metabolism | Fanconi Anemia Complementation Group F Protein - antagonists & inhibitors | Cell Line, Tumor | Fanconi Anemia Complementation Group L Protein - metabolism | Drug Resistance, Neoplasm - drug effects | RNA | DNA damage | Genes | Respiratory agents | Drug resistance | Antineoplastic agents | Fanconi's anemia | Antimitotic agents | Prevention | Chemotherapy | Cancer cells | Genetic research | Genetic aspects | Drug therapy | Health aspects | Cancer | Ribonucleic acid--RNA | Anemia | Index Medicus
Journal Article
Annals of medicine (Helsinki), ISSN 1365-2060, 06/2014, Volume 46, Issue 6, pp. 353 - 363
Abstract The inherited bone marrow failure syndromes are a diverse group of genetic diseases associated with inadequate production of one or more blood cell... 
Diamond-Blackfan anemia | dyskeratosis congenita | Shwachman-Diamond syndrome | Fanconi anemia | myelodysplastic syndromes | thrombocytopenia absent radii syndrome | aplastic anemia | congenital neutropenia | Thrombocytopenia absent radii syndrome | Congenital neutropenia | Aplastic anemia | Dyskeratosis congenita | Myelodysplastic syndromes | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Exocrine Pancreatic Insufficiency - genetics | Bone Marrow Diseases - diagnosis | Radius | Humans | Anemia, Aplastic | Exocrine Pancreatic Insufficiency - diagnosis | Dyskeratosis Congenita - genetics | Lipomatosis - therapy | Neutropenia - congenital | Thrombocytopenia - genetics | Young Adult | Upper Extremity Deformities, Congenital - therapy | Neutropenia - diagnosis | Bone Marrow Diseases - therapy | Dyskeratosis Congenita - diagnosis | Dyskeratosis Congenita - therapy | Anemia, Diamond-Blackfan - therapy | Adult | Fanconi Anemia - genetics | Thrombocytopenia - therapy | Hemoglobinuria, Paroxysmal - diagnosis | Neutropenia - genetics | Hemoglobinuria, Paroxysmal - genetics | Lipomatosis - genetics | Upper Extremity Deformities, Congenital - genetics | Anemia, Diamond-Blackfan - diagnosis | Bone Marrow Diseases - genetics | Upper Extremity Deformities, Congenital - diagnosis | Fanconi Anemia - diagnosis | Anemia, Diamond-Blackfan - genetics | Exocrine Pancreatic Insufficiency - therapy | Adolescent | Lipomatosis - diagnosis | Neutropenia - therapy | Thrombocytopenia - diagnosis | Fanconi Anemia - therapy | Hemoglobinuria, Paroxysmal - therapy | Index Medicus | Diamond-Blackfan | anemia
Journal Article