“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 …

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 …

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 …

[HTML][HTML] Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss

C Zhao, H Chai, Q Zhou, J Wen, UM Reddy… - Genetics in …, 2021 - Elsevier
Purpose Pregnancy loss ranging from spontaneous abortion (SAB) to stillbirth can result
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 …

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 …

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 …

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 …

Novel biomarkers for the evaluation of aging-induced proteinopathies

K Yanar, MC Atayik, B Simsek, U Çakatay - Biogerontology, 2020 - Springer
Proteinopathies are characterized by aging related accumulation of misfolded protein
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 …