et al. ATRX interacts with H3.3 in maintaining telomere structural integrity in pluripotent embryonic stem cells. Genome Res. 20, 351–360 (2010). CAS PubMed PubMed Central Google Scholar Law, M. J. et al. ATR-X syndrome protein targets tandem repeats and influences allele-specific ...
Angelman syndrome (AS) is caused by a lack of expression of the maternally inherited UBE3A gene in the brain. However, about 10% of individuals with a clinical diagnosis of AS do not have an identifiable molecular defect. It is likely that most of those individuals have an AS-like ...
centromeric instability and facial anomalies) syndrome, MECP2 in Rett syndrome, ATRX in ATR-X syndrome (a-thalassemia/mental retardation syndrome, X-linked), and DNA repeats
et al. ATRX interacts with H3.3 in maintaining telomere structural integrity in pluripotent embryonic stem cells. Genome Res. 20, 351–360 (2010). CAS PubMed PubMed Central Google Scholar Law, M. J. et al. ATR-X syndrome protein targets tandem repeats and influences allele-specific ...
The molecular characterization of poorly and anaplastic thyroid carcinomas has been greatly improved in the last years following the advent of high through
tual disability syndrome X-linked (ATRX) genes. 12 In NECs, these mutations are entirely absent and NECs instead show mutations in TP53, RB1, and less commonly in other carcinoma-related genes, such as KRAS, p16, Bcl-2, and Smad4/DPC4. 13,14 In sporadic pancreatic NETs, germline muta...
metastases to the liver, valvular disease of the right side of the heart (pulmonary stenosis and tricuspid regurgitation without septal defects), peripheral vasomotor symptoms, bronchoconstriction, and an unusual type of cyanosis; a clinical and pathologic syndrome. Am Heart J. 1954;47(5):795–...