“The first thousand days” define a fetal/neonatal neurology program
MS Scher - Frontiers in Pediatrics, 2021 - frontiersin.org
Gene–environment interactions begin at conception to influence maternal/placental/fetal
triads, neonates, and children with short-and long-term effects on brain development. Life …
triads, neonates, and children with short-and long-term effects on brain development. Life …
Genetics of recurrent pregnancy loss: a review
CG Tise, HM Byers - Current Opinion in Obstetrics and …, 2021 - journals.lww.com
The journey of human development from a single-cell zygote to a term infant is complex
process. Early research into copy number variants and highly penetrant single-gene …
process. Early research into copy number variants and highly penetrant single-gene …
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause …
E Perenthaler, A Nikoncuk, S Yousefi… - Acta …, 2020 - Springer
Developmental and/or epileptic encephalopathies (DEEs) are a group of devastating
genetic disorders, resulting in early-onset, therapy-resistant seizures and developmental …
genetic disorders, resulting in early-onset, therapy-resistant seizures and developmental …
[HTML][HTML] Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss
Purpose Pregnancy loss ranging from spontaneous abortion (SAB) to stillbirth can result
from monogenic causes of Mendelian inheritance. This study evaluated the clinical …
from monogenic causes of Mendelian inheritance. This study evaluated the clinical …
Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family
T Eggermann, G Kadgien, M Begemann… - European Journal of …, 2021 - nature.com
The term multilocus imprinting disturbance (MLID) describes the aberrant methylation of
multiple imprinted loci in the genome, and MLID occurs in patients suffering from imprinting …
multiple imprinted loci in the genome, and MLID occurs in patients suffering from imprinting …
Lethal phenotypes in Mendelian disorders
P Cacheiro, S Lawson, IB Van den Veyver… - Genetics in …, 2024 - Elsevier
Purpose Existing resources that characterize the essentiality status of genes are based on
either proliferation assessment in human cell lines, viability evaluation in mouse knockouts …
either proliferation assessment in human cell lines, viability evaluation in mouse knockouts …
Exome-sequencing identifies novel genes associated with recurrent pregnancy loss in a Chinese cohort
H Xiang, C Wang, H Pan, Q Hu, R Wang, Z Xu… - Frontiers in …, 2021 - frontiersin.org
Recurrent pregnancy loss (RPL) is a common reproductive problem affecting around 5% of
couples worldwide. At present, about half of RPL cases remained unexplained. Previous …
couples worldwide. At present, about half of RPL cases remained unexplained. Previous …
RNA sequencing of decidua reveals differentially expressed genes in recurrent pregnancy loss
Y Li, R Wang, M Wang, W Huang, C Liu, Z Fang… - Reproductive …, 2021 - Springer
Recurrent pregnancy loss (RPL) is affecting 3–5% of the women who are expecting to have
babies annually. However, the molecular changes of RPL patients have not been well …
babies annually. However, the molecular changes of RPL patients have not been well …
Novel biomarkers for the evaluation of aging-induced proteinopathies
Proteinopathies are characterized by aging related accumulation of misfolded protein
aggregates. Irreversible covalent modifications of aging proteins may significantly affect the …
aggregates. Irreversible covalent modifications of aging proteins may significantly affect the …
Primary cilia abnormalities participate in the occurrence of spontaneous abortion through TGF‐β/SMAD2/3 signaling pathway
X Yu, L Li, A Ning, H Wang, C Guan… - Journal of Cellular …, 2024 - Wiley Online Library
Spontaneous abortion is the most common complication in early pregnancy, the exact
etiology of most cases cannot be determined. Emerging studies suggest that mutations in …
etiology of most cases cannot be determined. Emerging studies suggest that mutations in …