Chronic intestinal pseudo‐obstruction in children and adults: diagnosis and therapeutic options
G Di Nardo, C Di Lorenzo, A Lauro… - …, 2017 - Wiley Online Library
Background Chronic intestinal pseudo‐obstruction (CIPO) represents the most severe form
of gastrointestinal dysmotility with debilitating and potentially lethal consequences …
of gastrointestinal dysmotility with debilitating and potentially lethal consequences …
Chronic intestinal pseudo-obstruction: clinical features, diagnosis, and therapy
R De Giorgio, RF Cogliandro, G Barbara… - Gastroenterology …, 2011 - gastro.theclinics.com
Functional gastrointestinal disorders range from highly prevalent, but generally benign
conditions, eg, functional dyspepsia and irritable bowel syndrome, to rare and potentially life …
conditions, eg, functional dyspepsia and irritable bowel syndrome, to rare and potentially life …
The expanding phenotypes of cohesinopathies: one ring to rule them all!
J Piché, PP Van Vliet, M Pucéat, G Andelfinger - Cell Cycle, 2019 - Taylor & Francis
Preservation and development of life depend on the adequate segregation of sister
chromatids during mitosis and meiosis. This process is ensured by the cohesin multi-subunit …
chromatids during mitosis and meiosis. This process is ensured by the cohesin multi-subunit …
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans
TL Le, L Galmiche, J Levy… - The Journal of …, 2021 - Am Soc Clin Investig
Hirschsprung disease (HSCR) is the most frequent developmental anomaly of the enteric
nervous system, with an incidence of 1 in 5000 live births. Chronic intestinal pseudo …
nervous system, with an incidence of 1 in 5000 live births. Chronic intestinal pseudo …
Chronic intestinal pseudo‐obstruction in adults: a practical guide to identify patient subgroups that are suitable for more specific treatments
G Basilisco, M Marchi, M Coletta - Neurogastroenterology & …, 2024 - Wiley Online Library
Chronic intestinal pseudo‐obstruction is a rare and heterogeneous syndrome characterized
by recurrent symptoms of intestinal obstruction with radiological features of dilated small or …
by recurrent symptoms of intestinal obstruction with radiological features of dilated small or …
Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction
Background & Aims Chronic intestinal pseudo-obstruction (CIPO) is characterized by severe
intestinal dysmotility that mimics a mechanical subocclusion with no evidence of gut …
intestinal dysmotility that mimics a mechanical subocclusion with no evidence of gut …
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21
LC Krab, I Marcos-Alcalde, M Assaf… - Human genetics, 2020 - Springer
RAD21 encodes a key component of the cohesin complex, and variants in RAD21 have
been associated with Cornelia de Lange Syndrome (CdLS). Limited information on …
been associated with Cornelia de Lange Syndrome (CdLS). Limited information on …
Chronic megacolon presenting in adolescents or adults: clinical manifestations, diagnosis, and genetic associations
XJ Wang, M Camilleri - Digestive diseases and sciences, 2019 - Springer
Objective Chronic megacolon is rarely encountered in clinical practice beyond infancy or
early childhood. Most cases are sporadic, and some are familial megacolon and present …
early childhood. Most cases are sporadic, and some are familial megacolon and present …
Cohesin composition and dosage independently affect early development in zebrafish
AA Labudina, M Meier, G Gimenez… - …, 2024 - journals.biologists.com
Cohesin, a chromatin-associated protein complex with four core subunits (Smc1a, Smc3,
Rad21 and either Stag1 or 2), has a central role in cell proliferation and gene expression in …
Rad21 and either Stag1 or 2), has a central role in cell proliferation and gene expression in …