5.4.99.B22 Anemia, Sideroblastic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15108122&form=6&db=m Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). unassigned - 5.4.99.B22 Anemia, Sideroblastic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15772074&form=6&db=m Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation. causal interaction,unassigned 4,0 5.4.99.B22 Anemia, Sideroblastic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17170069&form=6&db=m Pus3p- and Pus1p-dependent pseudouridylation of steroid receptor RNA activator controls a functional switch that regulates nuclear receptor signaling. unassigned - 5.4.99.B22 Anemia, Sideroblastic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27197761&form=6&db=m Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations. ongoing research,unassigned 2,0 5.4.99.B22 Breast Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32868896&form=6&db=m The nucleolar-related protein Dyskerin pseudouridine synthase 1 (DKC1) predicts poor prognosis in breast cancer. diagnostic usage,ongoing research,therapeutic application,unassigned 3,1,1,0 5.4.99.B22 Colorectal Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=34026451&form=6&db=m Dual Inhibition of DKC1 and MEK1/2 Synergistically Restrains the Growth of Colorectal Cancer Cells. causal interaction,therapeutic application,unassigned 1,1,0 5.4.99.B22 Dyskeratosis Congenita http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29801475&form=6&db=m Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report. causal interaction,unassigned 4,0 5.4.99.B22 Mitochondrial Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15108122&form=6&db=m Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). unassigned - 5.4.99.B22 Mitochondrial Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15772074&form=6&db=m Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation. causal interaction,unassigned 4,0 5.4.99.B22 Mitochondrial Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17170069&form=6&db=m Pus3p- and Pus1p-dependent pseudouridylation of steroid receptor RNA activator controls a functional switch that regulates nuclear receptor signaling. unassigned - 5.4.99.B22 Mitochondrial Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27197761&form=6&db=m Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations. ongoing research,unassigned 2,0