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EC Number
Disease
PubMed ID
Title of Publication
Category
Confidence Level
glutamine-fructose-6-phosphate transaminase (isomerizing) deficiency
GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice.
causal interaction
3
Myasthenic Syndromes, Congenital
Phenotype of a limb-girdle congenital myasthenic syndrome patient carrying a GFPT1 mutation.
causal interaction
1
Myasthenic Syndromes, Congenital
A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.
causal interaction
2
Myasthenic Syndromes, Congenital
Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.
causal interaction
3
Myasthenic Syndromes, Congenital
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
causal interaction
1
Neoplasms
Altered glycometabolism affects both clinical features and prognosis of triple-negative and neoadjuvant chemotherapy-treated breast cancer.
causal interaction
3
Triple Negative Breast Neoplasms
Altered glycometabolism affects both clinical features and prognosis of triple-negative and neoadjuvant chemotherapy-treated breast cancer.
causal interaction
3
Insulin Resistance
A Genetic Model to Study Increased Hexosamine Biosynthetic Flux.
causal interaction
2
Insulin Resistance
Molecular cloning, cDNA sequence, and bacterial expression of human glutamine:fructose-6-phosphate amidotransferase.
causal interaction
2
Insulin Resistance
Mechanism of hexosamine-induced insulin resistance in transgenic mice overexpressing glutamine:fructose-6-phosphate amidotransferase: decreased glucose transporter GLUT4 translocation and reversal by treatment with thiazolidinedione.
causal interaction
1
Results 1 - 10 of 220 > >>