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gene (4) 4
5-aminolevulinate synthetase - genetics (3) 3
5-aminolevulinate synthetase - metabolism (3) 3
biochemistry & molecular biology (3) 3
genetic diseases, x-linked - genetics (3) 3
humans (3) 3
index medicus (3) 3
male (3) 3
medicine, research & experimental (3) 3
sideroblastic anemia (3) 3
5-aminolevulinate synthase (2) 2
adult (2) 2
cell biology (2) 2
delta-aminolevulinate synthase (2) 2
enzyme kinetics (2) 2
female (2) 2
gene mutations (2) 2
genetic aspects (2) 2
hematology (2) 2
heme-biosynthesis (2) 2
identification (2) 2
iron (2) 2
mutation (2) 2
mutation, missense (2) 2
porphyria (2) 2
protein binding (2) 2
protoporphyria, erythropoietic - genetics (2) 2
research (2) 2
5-aminolevulinate synthetase - deficiency (1) 1
abridged index medicus (1) 1
alas2 (1) 1
amino acid substitution (1) 1
anemia (1) 1
anemia, dyserythropoietic, congenital - genetics (1) 1
anemia, macrocytic - genetics (1) 1
anemia, sideroblastic - enzymology (1) 1
anemia, sideroblastic - genetics (1) 1
articles (1) 1
biochemistry (1) 1
biopsy (1) 1
biosynthesis (1) 1
brief report (1) 1
cells, cultured (1) 1
chromosome-inactivation patterns (1) 1
development and progression (1) 1
encephalomyopathy (1) 1
enzyme (1) 1
enzyme mutation (1) 1
enzyme purification (1) 1
enzyme stability (1) 1
enzyme stability - genetics (1) 1
erythrocytes - enzymology (1) 1
erythrocytes - metabolism (1) 1
erythrohepatic porphyria (1) 1
erythroid 5-aminolevulinate synthase (1) 1
erythropoiesis - genetics (1) 1
erythropoietic (1) 1
erythropoietic protoporphyria (1) 1
exome - genetics (1) 1
gene expression (1) 1
genes (1) 1
genes, dominant (1) 1
genes, x-linked (1) 1
genetic diseases, x-linked - blood (1) 1
genetic diseases, x-linked - enzymology (1) 1
genetic research (1) 1
glycine (1) 1
glycine; succinyl-coenzyme a (1) 1
health aspects (1) 1
heme (1) 1
heme - biosynthesis (1) 1
heme - genetics (1) 1
heme biosynthesis (1) 1
hemorrhage - etiology (1) 1
iron overload (1) 1
iron overload - etiology (1) 1
kinetics (1) 1
linked dominant protoporphyria (1) 1
liver (1) 1
macrocytic anemia (1) 1
metabolic diseases (1) 1
models, molecular (1) 1
molecular bases of disease (1) 1
molecular sequence data (1) 1
mutations (1) 1
nucleoside-diphosphate kinase (1) 1
point mutation (1) 1
polymorphism (1) 1
positive cooperativity (1) 1
pregnancy (1) 1
pregnancy complications, hematologic - genetics (1) 1
protein (1) 1
protein conformation (1) 1
protoporphyria, erythropoietic - enzymology (1) 1
puerperal disorders - etiology (1) 1
pyridoxal phosphate - metabolism (1) 1
pyridoxine responsiveness (1) 1
pyridoxine-responsive (1) 1
reticulocytes - metabolism (1) 1
rna, messenger - genetics (1) 1
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1. Full Text Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants
by Tchaikovskii, Vassili and Desnick, Robert J and Bishop, David F
Molecular medicine (Cambridge, Mass.), ISSN 1076-1551, 01/2019, Volume 25, Issue 1, pp. 4 - 4
Background: X-linked protoporphyria (XLP) (MIM 300752) is an erythropoietic porphyria due to gain-of-function mutations in the last exon (Ducamp et al., Hum... 
Porphyria | X-linked sideroblastic anemia | Erythropoietic | Single nucleotide | Glycine; succinyl-coenzyme a | Polymorphism | MEDICINE, RESEARCH & EXPERIMENTAL | PROTEIN | HEME-BIOSYNTHESIS | VARIANTS | BIOCHEMISTRY & MOLECULAR BIOLOGY | DELTA-AMINOLEVULINATE SYNTHASE | SIDEROBLASTIC ANEMIA | Glycine | 5-AMINOLEVULINATE SYNTHASE | CELL BIOLOGY | succinyl-coenzyme a | LINKED DOMINANT PROTOPORPHYRIA | GENE | TERMINAL REGION | MUTATIONS
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2. Full Text X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation
by Sankaran, Vijay G and Ulirsch, Jacob C and Tchaikovskii, Vassili and Ludwig, Leif S and Wakabayashi, Aoi and Kadirvel, Senkottuvelan and Lindsley, R. Coleman and Bejar, Rafael and Shi, Jiahai and Lovitch, Scott B and Bishop, David F and Steensma, David P
Journal of Clinical Investigation, ISSN 0021-9738, 04/2015, Volume 125, Issue 4, pp. 1665 - 1669
Macrocytic anemia with abnormal erythropoiesis is a common feature of megaloblastic anemias, congenital dyserythropoietic anemias, and myelodysplastic... 
MEDICINE, RESEARCH & EXPERIMENTAL | GENE | CHROMOSOME-INACTIVATION PATTERNS | IRON | SIDEROBLASTIC ANEMIA | IDENTIFICATION | HEMATOLOGY | 5-AMINOLEVULINATE SYNTHASE | Humans | Molecular Sequence Data | Male | Mutation, Missense | Pregnancy Complications, Hematologic - genetics | Pyridoxal Phosphate - metabolism | Iron Overload - etiology | Genes, X-Linked | Genes, Dominant | Hemorrhage - etiology | Adult | Female | Genetic Diseases, X-Linked - genetics | 5-Aminolevulinate Synthetase - metabolism | Erythropoiesis - genetics | Genetic Diseases, X-Linked - blood | RNA, Messenger - genetics | Anemia, Dyserythropoietic, Congenital - genetics | Cells, Cultured | Models, Molecular | Reticulocytes - metabolism | Pregnancy | Point Mutation | Puerperal Disorders - etiology | Exome - genetics | 5-Aminolevulinate Synthetase - genetics | Protein Binding | Protein Conformation | Anemia, Macrocytic - genetics | X Chromosome Inactivation | Women | Gene mutations | Genetic research | Development and progression | Genetic aspects | Research | Health aspects | Macrocytic anemia | Mutation | Enzyme kinetics | Anemia | Biopsy | Genes | Brief Report
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3. Full Text X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2)
by Bishop, David F and Tchaikovskii, Vassili and Hoffbrand, A. Victor and Fraser, Marie E and Margolis, Steven
Journal of Biological Chemistry, ISSN 0021-9258, 08/2012, Volume 287, Issue 34, pp. 28943 - 28955
Mutations in the erythroid-specific aminolevulinic acid synthase gene (ALAS2) cause X-linked sideroblastic anemia (XLSA) by reducing mitochondrial enzymatic... 
SUBSTITUTION | ENZYME | HEME-BIOSYNTHESIS | GENE | PYRIDOXINE RESPONSIVENESS | BIOCHEMISTRY & MOLECULAR BIOLOGY | DELTA-AMINOLEVULINATE SYNTHASE | ERYTHROID 5-AMINOLEVULINATE SYNTHASE | NUCLEOSIDE-DIPHOSPHATE KINASE | ENCEPHALOMYOPATHY | IRON OVERLOAD | Succinate-CoA Ligases - genetics | Succinate-CoA Ligases - metabolism | Genetic Diseases, X-Linked - enzymology | Vitamin B 6 - metabolism | Humans | Male | Mutation, Missense | Vitamin B 6 - genetics | Anemia, Sideroblastic - genetics | Protoporphyria, Erythropoietic - genetics | Heme - genetics | Heme - biosynthesis | 5-Aminolevulinate Synthetase - genetics | Anemia, Sideroblastic - enzymology | Protein Binding | Adult | Genetic Diseases, X-Linked - genetics | 5-Aminolevulinate Synthetase - metabolism | Protoporphyria, Erythropoietic - enzymology | Enzyme Stability - genetics | Amino Acid Substitution | Enzyme Purification | Heme Biosynthesis | Molecular Bases of Disease | Positive Cooperativity | Hematology | Heme | Metabolic Diseases | Enzyme Mutation | Iron | Enzyme Kinetics | Pyridoxine-responsive
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4. Full Text Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria
by Bishop, David F and Tchaikovskii, Vassili and Nazarenko, Irina and Desnick, Robert J
Molecular Medicine, ISSN 1076-1551, 01/2013, Volume 19, Issue 1, pp. 18 - 25
X-linked protoporphyria (XLP) (MIM 300752) is a recently recognized erythropoietic porphyria due to gain-of-function mutations in the erythroid-specific... 
MEDICINE, RESEARCH & EXPERIMENTAL | ALAS2 | GENE | ERYTHROPOIETIC PROTOPORPHYRIA | BIOSYNTHESIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | LIVER | SIDEROBLASTIC ANEMIA | IDENTIFICATION | PORPHYRIA | CELL BIOLOGY | 5-Aminolevulinate Synthetase - deficiency | Temperature | Humans | Enzyme Stability | Male | Protoporphyria, Erythropoietic - genetics | 5-Aminolevulinate Synthetase - genetics | Erythrocytes - metabolism | Female | Genetic Diseases, X-Linked - genetics | 5-Aminolevulinate Synthetase - metabolism | Erythrocytes - enzymology | Kinetics | Mutation
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5. X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation
by Sankaran, Vijay G and Ulirsch, Jacob C and Tchaikovskii, Vassili and Ludwig, Leif S and Wakabayashi, Aoi and Kadirvel, Senkottuvelan and Lindsley, R Coleman and Bejar, Rafael and Shi, Jiahai and Lovitch, Scott B and Bishop, David F and Steensma, David P
Journal of Clinical Investigation, ISSN 0021-9738, 04/2015, Volume 125, Issue 4, pp. 1665 - 1665
Macrocytic anemia with abnormal erythropoiesis is a common feature of megaloblastic anemias, congenital dyserythropoietic anemias, and myelodysplastic... 
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