A focus on regulatory networks linking MicroRNAs, transcription factors and target genes in neuroblastoma

P Perri, M Ponzoni, MV Corrias, I Ceccherini… - Cancers, 2021 - mdpi.com
Simple Summary Neuroblastoma is a tumor of the sympathetic nervous system that
substantially contributes to childhood cancer mortality. Neuroblastoma originates from the …

Variable phenotypes in congenital central hypoventilation syndrome with PHOX2B nonpolyalanine repeat mutations

AS Kasi, H Li, TJ Jurgensen, L Guglani… - Journal of Clinical …, 2021 - jcsm.aasm.org
Study Objectives: Congenital central hypoventilation syndrome (CCHS) is a rare disorder
affecting the autonomic nervous system that is caused by variants in the paired-like …

Genetic study of a patient with congenital central hypoventilation syndrome in Iran: a case report

R Khorasanian, M Mojbafan, N Khosravi - Molecular Biology Reports, 2021 - Springer
Background Congenital central hypoventilation syndrome (CCHS) is an extremely rare
genetic disorder characterized by Autonomic nervous system dysregulation caused by …

NH2-terminal deletion of specific phosphorylation sites on PHOX2B disrupts the formation of enteric neurons in vivo

DF Chang, EA Gilliam, LMA Nucho… - American Journal …, 2021 - journals.physiology.org
Mutations in the paired-like homeobox 2 b (PHOX2B) gene are associated with congenital
central hypoventilation syndrome (CCHS), which is a rare condition in which both autonomic …

Hipoventilação relacionada ao sono de origem central secundária à deficiência de biotinidase: relato de caso

AF Silva, CV de Moraes, GA Pelissari… - Medicina (Ribeirão …, 2021 - revistas.usp.br
A hipoventilação relacionada ao sono de origem central resulta em hipercapnia relacionada
ao sono na vigência de condições normais do sistema respiratório e excluindo-se outros …

Síndrome de hipoventilação central congénita: caso clínico

DC Alves - 2021 - repositorio.ul.pt
A síndrome de hipoventilação central congénita é uma síndrome genética rara, com origem
numa mutação do gene “paired mesoderm homeobox protein 2B”(PHOX2B). Esta mutação …