Contribution of semen to early embryo development: fertilization and beyond
M Vallet-Buisan, R Mecca, C Jones… - Human …, 2023 - academic.oup.com
BACKGROUND It has long been thought that the factors affecting embryo and foetal
development were exclusively maternally derived; hence, if issues regarding fertility and …
development were exclusively maternally derived; hence, if issues regarding fertility and …
HSPA6 and its role in cancers and other diseases
B Song, S Shen, S Fu, J Fu - Molecular Biology Reports, 2022 - Springer
Abstract Heat Shock Protein Family A (Hsp70) Member 6 (HSPA6)(Online Mendelian
Inheritance in Man: 140555) belongs to the HSP70 family and is a partially conserved …
Inheritance in Man: 140555) belongs to the HSP70 family and is a partially conserved …
[HTML][HTML] Development of human retinal organoid models for bisphenol toxicity assessment
M Li, J Gong, L Ge, H Gao, J Yang, C Yang… - Ecotoxicology and …, 2022 - Elsevier
Abstract Bisphenols, including Bisphenol A (BPA), Tetrabromobisphenol A (TBBPA), and
Tetrabromobisphenol S (TBBPS), have been widely applied in the production of …
Tetrabromobisphenol S (TBBPS), have been widely applied in the production of …
High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations
R Belanger Deloge, X Zhao, PN Luna… - European Journal of …, 2023 - nature.com
Evidence suggests that genetic factors contribute to the development of anorectal
malformations (ARMs). However, the etiology of the majority of ARMs cases remains …
malformations (ARMs). However, the etiology of the majority of ARMs cases remains …
A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23. 1
Y Li, P Liu, W Wang, H Jia, Y Bai, Z Yuan, Z Yang - Pediatric Research, 2024 - nature.com
The mechanism underlying anorectal malformations (ARMs)-related VACTERL (vertebral
defects, anal atresia, cardiac defects, tracheo–esophageal fistula, and renal and limb …
defects, anal atresia, cardiac defects, tracheo–esophageal fistula, and renal and limb …
Distinct mitochondrial pathologies caused by mutations of the proximal tubular enzymes EHHADH and GATM
AL Forst, M Reichold, R Kleta, R Warth - Frontiers in Physiology, 2021 - frontiersin.org
The mitochondria of the proximal tubule are essential for providing energy in this nephron
segment, whose ATP generation is almost exclusively oxygen dependent. In addition …
segment, whose ATP generation is almost exclusively oxygen dependent. In addition …
Clinical presentations and diagnostic imaging of vacterl association
G Tonni, Ç Koçak, G Grisolia, G Rizzo… - Fetal and Pediatric …, 2023 - Taylor & Francis
Background: VACTERL association consists of Vertebral, Anorectal, Cardiac, Tracheo-
Esophageal, Renal, and Limb defects. The diagnosis depends on the presence of at least …
Esophageal, Renal, and Limb defects. The diagnosis depends on the presence of at least …
[HTML][HTML] A genetics-first approach revealed monogenic disorders in patients with ARM and VACTERL anomalies
R Van de Putte, GC Dworschak, E Brosens… - Frontiers in …, 2020 - frontiersin.org
Background: The VATER/VACTERL association (VACTERL) is defined as the non-random
occurrence of the following congenital anomalies: Vertebral, Anal, Cardiac, Tracheal …
occurrence of the following congenital anomalies: Vertebral, Anal, Cardiac, Tracheal …
High abundance of CDC45 inhibits cell proliferation through elevation of HSPA6
Objectives CDC45 is the core component of CMG (CDC45‐MCMs‐GINS) complex that plays
important role in the initial step of DNA replication in eukaryotic cells. The expression level of …
important role in the initial step of DNA replication in eukaryotic cells. The expression level of …
Re‐sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL‐like association, and isolated …
CE Thiem, JD Stegmann, AC Hilger… - Birth Defects …, 2022 - Wiley Online Library
Abstract Background The acronym VATER/VACTERL association describes the combination
of at least three component features (CFs): vertebral defects (V), anorectal malformations …
of at least three component features (CFs): vertebral defects (V), anorectal malformations …