The omics era: a nexus of untapped potential for Mendelian chromatinopathies

AA Nava, VA Arboleda - Human Genetics, 2024 - Springer
The OMICs cascade describes the hierarchical flow of information through biological
systems. The epigenome sits at the apex of the cascade, thereby regulating the RNA and …

[HTML][HTML] Induced pluripotent stem cells for therapy personalization in pediatric patients: focus on drug-induced adverse events

E Genova, F Cavion, M Lucafò, L De Leo… - World journal of stem …, 2019 - ncbi.nlm.nih.gov
Adverse drug reactions (ADRs) are major clinical problems, particularly in special
populations such as pediatric patients. Indeed, ADRs may be caused by a plethora of …

Generation of infant-and pediatric-derived urinary induced pluripotent stem cells competent to form kidney organoids

J Mulder, S Sharmin, T Chow, DC Rodrigues… - Pediatric …, 2020 - nature.com
Background Human induced pluripotent stem cells (iPSCs) are a promising tool to
investigate pathogenic mechanisms underlying human genetic conditions, such as …

[HTML][HTML] Human induced pluripotent stem cells ameliorate hyperoxia-induced lung injury in a mouse model

A Mitchell, H Wanczyk, T Jensen… - American Journal of …, 2020 - ncbi.nlm.nih.gov
Hyperoxia-induced lung injury occurs in neonates on oxygen support due to premature birth,
often leading to the development of bronchopulmonary dysplasia. Current treatment options …

Metabolomic profiles of induced pluripotent stem cells derived from patients with rheumatoid arthritis and osteoarthritis

J Kim, SC Kang, NE Yoon, Y Kim, J Choi… - Stem Cell Research & …, 2019 - Springer
Background Metabolomics is the systemic study of the unique fingerprints of metabolites
involved in cellular processes and biochemical reactions. The metabolomic approach is …

[HTML][HTML] Great Expectations: Induced pluripotent stem cell technologies in neurodevelopmental impairments

X Zhang, Z Li, Y Liu, Z Gai - International Journal of Medical …, 2021 - ncbi.nlm.nih.gov
Somatic cells such as skin fibroblasts, umbilical cord blood, peripheral blood, urinary
epithelial cells, etc., are transformed into induced pluripotent stem cells (iPSCs) by …

Induced pluripotent stem cells in pediatric research and clinical translation

D Uçkan-Çetinkaya, KH Haider - Stem Cells: Latest Advances, 2021 - Springer
Reprogramming cells to gain pluripotency or a different lineage has been a breakthrough
enabling disease modeling, drug discovery, toxicity testing, drug repurposing for new …

KAT6A mutations drive transcriptional dysregulation of cell cycle and Autism risk genes in an Arboleda-Tham Syndrome cerebral organoid model

AA Nava, CT Jops, CK Vuong, SL Niles-Jensen… - bioRxiv, 2023 - biorxiv.org
Abstract Arboleda-Tham Syndrome (ARTHS, OMIM# 616268) is a rare neurodevelopmental
disorder caused by de novo mutations in KAT6A. Individuals with ARTHS typically exhibit …

诱导多能干细胞在儿童疾病的应用研究进展

田智琛, 尹晓娟 - 遗传, 2022 - chinagene.cn
儿童疾病的最佳诊断和治疗依赖于对病理生理学更充分的认识, 而诱导多能干细胞(induced
pluripotent stem cells, iPSCs) 的出现则为儿童疾病的研究和治疗提供了新的策略. iPSCs …

Induzierte pluripotente Stammzellen in der pädiatrischen Forschung und klinischen Umsetzung

D Uçkan-Çetinkaya, KH Haider - Stammzellen: Neueste Fortschritte, 2023 - Springer
Zusammenfassung Die Umprogrammierung von Zellen, um Pluripotenz oder eine andere
Abstammungslinie zu erlangen, ist ein Durchbruch, der die Modellierung von Krankheiten …