(MIM 303600); depending on the severity of the mutation in the RSK2 gene, females either have only minor manifestations or develop the full phenotype with facial dysmorphism, tapering fingers and skeletal deformities.53,54 Although the inherited p.(Ser37Pro) variant lies close to the N-...
Clinical Manifestations Associated with the N-Terminal-Acetyltransferase NAA10 Gene Mutation in a Female: Ogden Syndrome. M. Clinical manifestations associated with the N-terminal-acetyltransferase NAA10 gene mutation in a girl: ogden syndrome. Pediatr. Neurol. 76, 82-85 (... M Sidhu,L Brady,M...
re ceptor UNC5B as Naa10's downstream targets, and their negative regulation may involves in regulation of both vasculogenesis and cell growth, the multifunction of Naa10 can help us better explain the variety of clinical manifestations and early death of Naa10 gene mutation induced Ogden ...
Hereditary or de novo germline variants in the X-chromosomal NAA10 gene is associated with developmental syndromes and non-syndromic developmental delay in humans. A NAA10 S37P missense mutation is the cause of the Ogden syndrome, an extremely rare disease in which affected boys have an aged ...
4E). When FIH was silenced, the target gene expressions were enhanced due to the blockade of HIF-1α N803 hydroxylation. However, they were no more regulated by NAA10 knockdown because NAA10 was not capable of acetylating HIF-1α without FIH. Under hypoxia, the target genes were highly ...
Ogden syndrome is an exceptionally rare X-linked disease caused by mutations in the NAA10 gene. Reported cases of this syndrome are approximately 20 childr... F Li,W Wang,Y Li,... - 《Medicine》 被引量: 0发表: 2024年 Ocular Manifestations of the NAA10 -Related Syndrome The NAA10 -re...
aEchocardiography of the patient at 1 year of age.bNAA10mutations were identified in the patient and his mother by the Sanger method. Red letters indicate deleted nucleotides.cThe genotype of theNAA10mutation in male patients of the present case and literature. The bold face indicates hypertrophic...