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1. Full Text Abnormal development of zebrafish after knockout and knockdown of ribosomal protein L10a
by Palasin, Kunwadee and Uechi, Tamayo and Yoshihama, Maki and Srisowanna, Naparee and Choijookhuu, Narantsog and Hishikawa, Yoshitaka and Kenmochi, Naoya and Chotigeat, Wilaiwan
Scientific reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 18130 - 11
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | RNA-Binding Proteins - genetics | Oligonucleotides, Antisense | Zebrafish Proteins - metabolism | Hemoglobins - genetics | Gene Knockout Techniques | Zebrafish - embryology | Germ Cells - physiology | Tumor Suppressor Protein p53 - genetics | Zebrafish - genetics | Gene Knockdown Techniques | DEAD-box RNA Helicases - genetics | Embryo, Nonmammalian - abnormalities | Animals | Gene Expression Regulation, Developmental | CRISPR-Cas Systems | GATA1 Transcription Factor - genetics | Zebrafish Proteins - genetics | RNA-Binding Proteins - metabolism | Erythropoiesis - genetics | Edema | CRISPR | Fertilization | p53 Protein | Cytology | Zebrafish | Antisense oligonucleotides | Ribosomal protein L10a | mRNA | Genomes | Gene deletion | GATA-1 protein | Yolk sac | Embryogenesis | Clonal deletion | Morphology | Apoptosis | Yolk | Index Medicus
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2. Full Text MOLECULAR SPECTRUM OF α-THALASSEMIA IN TUNISIA: EPIDEMIOLOGY AND DETECTION AT BIRTH
by Zorai, Amine and Harteveld, Cornelis L and Bakir, Achech and Delft, Peter Van and Falfoul, Abdelaziz and Dellagi, Koussay and Abbes, Salem and Giordano, Piero C
Hemoglobin, ISSN 0363-0269, 2002, Volume 26, Issue 4, pp. 353 - 362
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Hematology | Science & Technology | Erythrocyte Indices - genetics | Humans | Genotype | Neonatal Screening - methods | Erythrocytes, Abnormal - metabolism | Fetal Blood - cytology | alpha-Thalassemia - epidemiology | Genetic Testing - methods | Genetic Carrier Screening - methods | DNA - blood | DNA - genetics | Erythrocytes, Abnormal - chemistry | Hemoglobins, Abnormal - genetics | alpha-Thalassemia - blood | alpha-Thalassemia - diagnosis | Polymorphism, Genetic - genetics | alpha-Thalassemia - genetics | Infant, Newborn | Tunisia - epidemiology | Index Medicus | Tunisia/epidemiology | alpha-Thalassemia/blood | DNA/blood | alpha-Thalassemia/epidemiology | Polymorphism, Genetic/genetics | alpha-Thalassemia/diagnosis | Erythrocytes, Abnormal/chemistry | DNA/genetics | Fetal Blood/cytology | alpha-Thalassemia/genetics | Life Sciences | Human health and pathology | Hemoglobins, Abnormal/genetics | Genetic Testing/methods | Erythrocytes, Abnormal/metabolism | Erythrocyte Indices/genetics | Neonatal Screening/methods | Santé publique et épidémiologie | Genetic Carrier Screening/methods
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3. Full Text MYH9‐related disease mutations cause abnormal red blood cell morphology through increased myosin‐actin binding at the membrane
by Smith, Alyson S and Pal, Kasturi and Nowak, Roberta B and Demenko, Anastasiya and Zaninetti, Carlo and Da Costa, Lydie and Favier, Remi and Pecci, Alessandro and Fowler, Velia M
American journal of hematology, ISSN 0361-8609, 06/2019, Volume 94, Issue 6, pp. 667 - 677
Life Sciences & Biomedicine | Hematology | Science & Technology | Hearing Loss, Sensorineural - metabolism | Humans | Actins - metabolism | Erythrocyte Membrane - metabolism | Thrombocytopenia - congenital | Hearing Loss, Sensorineural - pathology | Myosin Heavy Chains - genetics | Erythrocyte Membrane - pathology | Male | Hearing Loss, Sensorineural - genetics | Erythrocytes, Abnormal - metabolism | Thrombocytopenia - pathology | Myosin Heavy Chains - metabolism | Thrombocytopenia - metabolism | Actins - genetics | Thrombocytopenia - genetics | Erythrocytes, Abnormal - pathology | Erythrocyte Membrane - genetics | Female | Mutation | Spectrin | Cataracts | Deafness | Phenotypes | Deformability | Blood cells | Erythrocytes | Cytology | Blood | Hereditary diseases | Filaments | Actin | Myosin | Peripheral blood | Hemoglobin | Kidney diseases | Index Medicus | spectrin-actin membrane skeleton | cytoskeleton | erythrocyte shape | actomyosin contractility | nonmuscle myosin IIA
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4. Full Text Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin
by Borg, Joseph and Papadopoulos, Petros and Georgitsi, Marianthi and Gutiérrez, Laura and Grech, Godfrey and Fanis, Pavlos and Phylactides, Marios and Verkerk, Annemieke J. M. H and van der Spek, Peter J and Scerri, Christian A and Cassar, Wilhelmina and Galdies, Ruth and van Ijcken, Wilfred and Ozgür, Zeliha and Gillemans, Nynke and Hou, Jun and Bugeja, Marisa and Grosveld, Frank G and von Lindern, Marieke and Felice, Alex E and Patrinos, George P and Philipsen, Sjaak
Nature genetics, ISSN 1061-4036, 2010, Volume 42, Issue 9, pp. 801 - 805
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Cells, Cultured | Genetic Diseases, Inborn - genetics | Gene Expression Regulation, Developmental - genetics | Male | Transcription Factors - genetics | Loss of Heterozygosity - physiology | Transfection | Pedigree | Fetal Hemoglobin - genetics | Adult | Family | Female | Genetic Diseases, Inborn - metabolism | Kruppel-Like Transcription Factors - genetics | Erythropoiesis - genetics | Fetal Hemoglobin - metabolism | Physiological aspects | Glycosylated hemoglobin | Transcription factors | Genetic aspects | Research | Gene expression | Index Medicus
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5. Full Text Prevalence and molecular characterization of abnormal hemoglobin in eastern Guangdong of southern China
by Lin, M and Wang, Q and Zheng, L and Huang, Y and Lin, F and Lin, CP and Yang, LY
Clinical genetics, ISSN 0009-9163, 02/2012, Volume 81, Issue 2, pp. 165 - 171
Hb G‐Chinese | Hb G‐Waimanalo | molecular characterization | Hb Ottawa | abnormal hemoglobin | Abnormal hemoglobin | Hb G-Chinese | Molecular characterization | Hb G-Waimanalo | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Hematologic and hematopoietic diseases | Anemias. Hemoglobinopathies | General aspects. Genetic counseling | Diseases of red blood cells | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | China - ethnology | Prevalence | Humans | China - epidemiology | beta-Globins - genetics | Molecular Typing | alpha-Globins - genetics | Base Sequence | Hemoglobins, Abnormal - genetics | Hemoglobinopathies - genetics | Hemoglobins, Abnormal - classification | Mutation | Amino Acid Substitution | Hemoglobinopathies - epidemiology | Medical colleges | Genetic disorders | Analysis | Glycosylated hemoglobin | Biological apparatus and supplies | Chemical properties | Prevalence studies (Epidemiology) | Hemoglobin | Molecular biology | Index Medicus | Polymerase chain reaction | Ethnic groups | Electrophoresis | Thalassemia | Blood | Genotypes | Hereditary diseases
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6. Abnormal hemoglobins in human populations
: a summary and interpretation
by Livingstone, Frank B
1967, Perspectives on the biology of man, ix, 470 p. illus., maps.
Hemoglobinopathy | Population genetics | Genetic aspects
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7. Full Text Abnormal expression of inflammatory genes in placentas of women with sickle cell anemia and sickle hemoglobin C disease
by Baptista, Letícia C and Costa, Maria Laura and Ferreira, Regiane and Albuquerque, Dulcinéia M and Lanaro, Carolina and Fertrin, Kleber Y and Surita, Fernanda G and Parpinelli, Mary A and Costa, Fernando F and Melo, Mônica Barbosa de
Annals of hematology, ISSN 0939-5555, 11/2016, Volume 95, Issue 11, pp. 1859 - 1867
Pregnancy | Placenta | Medicine & Public Health | Hematology | Oncology | Inflammation | Sickle cell disease | Gene expression | Life Sciences & Biomedicine | Science & Technology | Hemoglobin SC Disease - complications | Anemia, Sickle Cell - complications | Receptors, Cytokine - biosynthesis | Humans | Gene Expression Regulation | Gene Expression Profiling | Hemoglobin SC Disease - genetics | Inflammation - etiology | Case-Control Studies | Pregnancy Complications, Hematologic - genetics | Placenta - metabolism | Young Adult | Placenta - pathology | Inflammation - genetics | Reproductive History | Adult | Female | Cytokines - genetics | Real-Time Polymerase Chain Reaction | Receptors, Cytokine - genetics | Cytokines - biosynthesis | Anemia, Sickle Cell - genetics | Medical colleges | Sickle cell anemia | Growth | Genes | Polymerization | Hemoglobin S | Oxyhemoglobin | Pregnant women | Physiological aspects | Genetic research | Fetus | Genetic engineering | Molecular biology | Index Medicus
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8. Full Text α-thalassaemia
by Harteveld, Cornelis L and Higgs, Douglas R
Orphanet journal of rare diseases, ISSN 1750-1172, 2010, Volume 5, Issue 1, pp. 13 - 13
Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | alpha-Globins - genetics | Gene Deletion | Hemoglobins, Abnormal - genetics | Humans | Hemoglobins, Abnormal - metabolism | alpha-Thalassemia - diagnosis | Mutation | alpha-Thalassemia - epidemiology | alpha-Thalassemia - genetics | alpha-Thalassemia - metabolism | alpha-Globins - metabolism | Index Medicus
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9. Full Text Translation readthrough mitigation
by Arribere, Joshua A and Arribere, Joshua A and Cenik, Elif S and Cenik, Elif S and Jain, Nimit and Jain, Nimit and Hess, Gaelen T and Hess, Gaelen T and Lee, Cameron H and Lee, Cameron H and Bassik, Michael C and Bassik, Michael C and Fire, Andrew Z and Fire, Andrew Z
Nature (London), ISSN 0028-0836, 2016, Volume 534, Issue 7609, pp. 719 - 723
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Animals, Genetically Modified | Caenorhabditis elegans - genetics | Codon, Terminator - genetics | Humans | Peptides - genetics | 3' Untranslated Regions - genetics | Genes - genetics | Ribosomes - metabolism | Proteins - analysis | CRISPR-Cas Systems - genetics | Proteins - genetics | Animals | Peptides - metabolism | Proteins - metabolism | Hemoglobins, Abnormal - genetics | Protein Biosynthesis - genetics | Proteins - chemistry | Caenorhabditis elegans | Protein research | Codon | Ribosomal proteins | Genetic aspects | Research | Genetic translation | Proteins | Transcription factors | Peptides | Mutagenesis | Protein expression | Mutation | Gene expression | Index Medicus
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