Omphalocele: a review of common genetic etiologies

H Poaty, F Pelluard, MS Diallo, IPL Ondima… - Egyptian journal of …, 2019 - Springer
Omphalocele is one of the most common congenital defects in the anterior abdominal wall.
The malformation is associated with various pathologies especially with chromosomal …

Genome-wide association studies for pelvic organ prolapse in the Japanese population

M Matsunami, M Imamura, A Ashikari, X Liu… - Communications …, 2024 - nature.com
Pelvic organ prolapse (POP) affects approximately 40% of elderly women, characterized by
the descent of the pelvic organs into the vaginal cavity. Here we present the results of a …

Anomalies associated with gastroschisis and omphalocele: analysis of 2825 cases from the Texas Birth Defects Registry

B Benjamin, GN Wilson - Journal of Pediatric Surgery, 2014 - Elsevier
Abstract Background/Purpose The increasing prevalence of abdominal wall defects
prompted analysis of anomalies associated with gastroschisis and omphalocele in the …

Ventral body wall closure: Mechanistic insights from mouse models and translation to human pathology

C Formstone, B Aldeiri, M Davenport… - Developmental …, 2024 - Wiley Online Library
The ventral body wall (VBW) that encloses the thoracic and abdominal cavities arises by
extensive cell movements and morphogenetic changes during embryonic development …

Crucial requirement of ERK/MAPK signaling in respiratory tract development

O Boucherat, V Nadeau, FA Bérubé-Simard… - …, 2014 - journals.biologists.com
The mammalian genome contains two ERK/MAP kinase genes, Mek1 and Mek2, which
encode dual-specificity kinases responsible for ERK/MAP kinase activation. In order to …

The Fgf8 subfamily (Fgf8, Fgf17 and Fgf18) is required for closure of the embryonic ventral body wall

M Boylan, MJ Anderson, DM Ornitz… - …, 2020 - journals.biologists.com
The closure of the embryonic ventral body wall in amniotes is an important morphogenetic
event and is essential for life. Defects in human ventral wall closure are a major class of birth …

Muscle patterning in mouse and human abdominal wall development and omphalocele specimens of humans

PF Nichol, RF Corliss, S Yamada… - … Record: Advances in …, 2012 - Wiley Online Library
Human omphalocele is a congenital defect of the abdominal wall in which the secondary
abdominal wall structures (muscle and connective tissue) in an area centered around the …

Registry analysis supports different mechanisms for gastroschisis and omphalocele within shared developmental fields

B Benjamin, GN Wilson - … Journal of Medical Genetics Part A, 2015 - Wiley Online Library
Nine thousand two hundred eighty abnormalities associated with 2,943 abdominal wall
defects (AWD) encoded from 1999 to 2008 by the Texas Birth Defects Registry (TBDR) were …

Dermatan sulfate epimerase 1 deficient mice as a model for human abdominal wall defects

R Gustafsson, X Stachtea, M Maccarana… - … Research Part A …, 2014 - Wiley Online Library
Background Dermatan sulfate (DS) is a highly sulfated polysaccharide with a variety of
biological functions in extracellular matrix organization and processes such as …

Caldesmon ablation in mice causes umbilical herniation and alters contractility of fetal urinary bladder smooth muscle

S Pütz, LS Barthel, M Frohn, D Metzler… - Journal of General …, 2021 - rupress.org
The actin-, myosin-, and calmodulin-binding protein caldesmon (CaD) is expressed in two
splice isoforms: h-CaD, which is an integral part of the actomyosin domain of smooth muscle …