-
1
المؤلفون: Leif S. Ludwig, Jacob C. Ulirsch, Rafael Bejar, R. Coleman Lindsley, Vijay G. Sankaran, Senkottuvelan Kadirvel, Vassili Tchaikovskii, Jiahai Shi, Aoi Wakabayashi, David P. Steensma, David F. Bishop, Scott B. Lovitch
المصدر: Journal of Clinical Investigation. 130:552-552
مصطلحات موضوعية: Adult, Male, Models, Molecular, Iron Overload, Reticulocytes, Anemia, Protein Conformation, Molecular Sequence Data, Mutation, Missense, Hemorrhage, Biology, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Genes, X-Linked, Pregnancy, X Chromosome Inactivation, medicine, Missense mutation, Humans, Point Mutation, Erythropoiesis, Exome, Anemia, Macrocytic, RNA, Messenger, Cells, Cultured, Anemia, Dyserythropoietic, Congenital, Genes, Dominant, Genetics, Brief Report, Point mutation, Myelodysplastic syndromes, Pregnancy Complications, Hematologic, Genetic Diseases, X-Linked, Puerperal Disorders, General Medicine, medicine.disease, ALAS2, 3. Good health, Pyridoxal Phosphate, 030220 oncology & carcinogenesis, Female, Macrocytic anemia, Corrigendum, Dyserythropoietic anemia, 5-Aminolevulinate Synthetase, Protein Binding
-
2
المؤلفون: Antonios Arvelakis, Robert J. Desnick, Manisha Balwani, L. David Martin, Angelika Erwin, Sonia Clavero, Makiko Yasuda, Brenden Chen, Sander Florman, Hetanshi Naik, John D. Phillips, M. Isabel Fiel, Lin Gan, Senkottuvelan Kadirvel, Karl E. Anderson, Lawrence U Liu, Ronald E. Gordon, Chunli Yu, Vaithamanithi M Sadagoparamanujam
مصطلحات موضوعية: Adult, medicine.medical_specialty, Hydroxymethylbilane Synthase, medicine.medical_treatment, Porphobilinogen, Heme, Biology, Liver transplantation, chemistry.chemical_compound, Internal medicine, Genetics, medicine, Humans, RNA, Messenger, Uroporphyrins, Molecular Biology, Genetics (clinical), Acute intermittent porphyria, Articles, Aminolevulinic Acid, medicine.disease, ALAS1, Liver Transplantation, Heme oxygenase, Endocrinology, Porphyria, chemistry, Liver, Porphyria, Acute Intermittent, Molecular Medicine, Female, 5-Aminolevulinate Synthetase
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8177dc04e514e64f7630f4855e4c59bb
https://europepmc.org/articles/PMC4607616/ -
3
المؤلفون: Lin Gan, Robert J. Desnick, Makiko Yasuda, Brenden Chen, Senkottuvelan Kadirvel, Kevin Fitzgerald, Abigail Liebow, John D. Phillips, Maria I. New, William Querbes, Chunli Yu
مصطلحات موضوعية: Small interfering RNA, congenital, hereditary, and neonatal diseases and abnormalities, Blotting, Western, Drug Evaluation, Preclinical, Pharmacology, Biology, Real-Time Polymerase Chain Reaction, chemistry.chemical_compound, Mice, Therapeutic index, Porphobilinogen, medicine, Gene silencing, Animals, Particle Size, RNA, Small Interfering, skin and connective tissue diseases, Heme, Acute intermittent porphyria, Analysis of Variance, Multidisciplinary, nutritional and metabolic diseases, Biological Sciences, medicine.disease, Molecular biology, ALAS1, Mice, Inbred C57BL, chemistry, Liver, Porphyria, Acute Intermittent, Electrophoresis, Polyacrylamide Gel, Female, RNA Interference, Hemin, 5-Aminolevulinate Synthetase
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d4ef6b17cf3d349fc39a83627b7bc52
https://europepmc.org/articles/PMC4040563/ -
4
المؤلفون: Kazumichi Furuyama, Shigeki Shibahara, Hideo Harigae, Senkottuvelan Kadirvel, Yoshiko Tamai, Kiriko Kaneko, Yoji Ishida
المصدر: Experimental hematology. 40(6)
مصطلحات موضوعية: Adult, Male, Cancer Research, Adolescent, Mutant, Blotting, Western, medicine.disease_cause, Sideroblastic anemia, Enzyme Stability, Genetics, medicine, Humans, Molecular Biology, DNA Primers, chemistry.chemical_classification, Mutation, ATP synthase, biology, Base Sequence, Cell Biology, Hematology, medicine.disease, Molecular biology, ALAS2, Recombinant Proteins, Amino acid, Blot, Enzyme, Biochemistry, chemistry, biology.protein, Biocatalysis, 5-Aminolevulinate Synthetase
-
5
المؤلفون: Dana Doheny, Brenden Chen, Senkottuvelan Kadirvel, Andrea M. Atherton, Asha Singh, Chunli Yu, Rachel Montel, Robert J. Desnick, Beom Hee Lee, Irina Nazarenko
المصدر: Molecular Genetics and Metabolism. 114:S37
مصطلحات موضوعية: business.industry, Endocrinology, Diabetes and Metabolism, Mutation effect, medicine.disease, Biochemistry, Fabry disease, Molecular biology, Endocrinology, α galactosidase a, Polymorphism (materials science), Genetics, Medicine, business, Molecular Biology
-
6دورية أكاديمية
المؤلفون: Makiko Yasuda, Lin Gan, Chen, Brenden, Senkottuvelan Kadirvel, Chunli Yu, Phillips, John D., New, Maria I., Liebow, Abigail, Fitzgerald, Kevin, Querbes, William, Desnick, Robert J.
المصدر: Proceedings of the National Academy of Sciences of the United States of America; 5/27/2014, Vol. 111 Issue 21, p7777-7782, 6p
مصطلحات موضوعية: RNA interference, HEPATIC porphyria, BIOSYNTHESIS, SYNTHASES, LABORATORY mice