As one of the most essential genome guardians, p53 and its mutants have been suggested associated with many types of cancers. Many p53 mutants function induce unique phenotypes, including carcinogenesis, metastasis, and drug resistance. The p53(R249S) mutation is the most prevalent and specific mutation associated with liver cancer development. Here, we demonstrate the generation of a heterozygous p53(R249S) mutation in the H9 human embryonic stem cell line using TALEN-mediated genome editing. The generated cell line maintains a normal karyotype, a pluripotent state and the in vivo capacity to develop a teratoma containing all three germ layer tissues.
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http://dx.doi.org/10.1016/j.scr.2018.101360 | DOI Listing |
Steroids
January 2025
Department of Endocrinology, Sir Run Run Hospital, Nanjing Medical University, Nanjing, Jiangsu, China. Electronic address:
Background: 17α-Hydroxylase/17,20-lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH), caused by mutations in the CYP17A1 gene. It typically manifests clinically as variable degree of hypertension, hypokalemia, and disorders of sexual development (DSD), which can include abnormal sexual differentiation in males and sexual infantilism in females. Over 100 mutations in CYP17A1 have been identified, with most cases involving missense mutations or small deletions.
View Article and Find Full Text PDFStem Cell Res
January 2025
Division of Genetics and Metabolism - Department of Pediatrics, Center of Human Genomics and Precision Medicine, University of Wisconsin - School of Medicine and Public Health, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address:
We have described a novel mitochondrial disorder caused by biallelic pathogenic variants in the methionyl-tRNA synthetase 2 gene (MARS2), now termed Combined oxidative phosphorylation deficiency 25 (COXPD25). This study focuses on the generation and characterization of induced pluripotent stem cells (iPSCs) from fibroblasts of a patient with COXPD25. The resulting iPSC line ISMMSi060-A, carries the compound heterozygous variants c.
View Article and Find Full Text PDFACS Appl Mater Interfaces
January 2025
Clean Energy Research Center, University of Yamanashi, 4-3-11 Takeda, Kofu, Yamanashi 400-8511, Japan.
Thermoelectric (TE) devices recycle high-temperature waste-heat efficiently, but waste-heat below sub-250 °C remains uncaptured. As promoting full autonomy for the Internet of Things (IoT), we present a TE generator using multilayered pseudo--type GaN/TiN/GaN and -type TiO/TiN/TiO TE one-leg devices, where heterozygous of outer/inner layers demonstrates the functions of a colossal Seebeck coefficient ( = +15,000 μV K) with phonon-assist hopping, controlling by the porosity for reducing thermal conductivity (κ), a high electric conductivity (σ) with reducing κ by outer layers, and σ- coexistence over singular curve by the asymmetric electrode configuration. is elucidated hopping among inner grains and the space charge (SC) grain boundary (GB) of 100 μm regions within Debye length.
View Article and Find Full Text PDFGenes Chromosomes Cancer
January 2025
Pathology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Infantile myofibromatosis (IM) comprises a wide clinical spectrum, ranging from solitary or multicentric lesions to generalized life-threatening forms. IM is mostly linked to germline or somatic heterozygous mutations in the PDGFRβ tyrosine kinase, encoded by the PDGFRB gene. Treatments for IM range from wait and see approach to systemic chemotherapy, according to the clinical context.
View Article and Find Full Text PDFAm J Physiol Renal Physiol
January 2025
Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
ERMP1 is involved in the Unfolded Protein Response (UPR) pathway in response to endoplasmic reticulum (ER) stress. Given the pivotal role of ER stress in the pathogenesis of acute and chronic kidney diseases, we hypothesized that ERMP1 could be instrumental in the development of renal injury. analysis of RNA sequencing datasets from renal biopsies were exploited to assess the expression of ERMP1 in the kidney under normal or pathological conditions.
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