Introduction: Immortalized cell lines play a crucial role in biomedical research by enabling reproducible experiments and enhancing our understanding of complex diseases. HuH-7, originally derived from a human hepatocellular carcinoma, is particularly valuable for studying liver cancer dynamics, viral…
Cerebral cavernous malformations (CCMs) are clusters of thin-walled enlarged blood vessels in the central nervous system that are prone to recurrent hemorrhage and can occur in both sporadic and familial forms. The familial form results from loss-of-function variants in the CCM1 , CCM2 , or CCM3 gene.…
Abstract Background Ceramides are bioactive sphingolipids that have physiological effects on inflammation, apoptosis, and mitochondrial dysfunction. They may play a critical role in the harm of ischemia/reperfusion (IR). Ceramides and IR injury are not well-studied, and there is a lack of human data.…
Summary Recently, we were able to show that satellite DNA amplification (satDNA-AMP) is present in advanced prostate cancer. A chromosome microarray study provided first evidence that satDNA-AMP appears to be largely independent of centromere-near/pericentric euchromatic copy number alterations. Therefore,…
Sage CA: Los Angeles, CA: SAGE Publications, 2025-03-17
Introduction: With only 39 reported cases in the literature, carriers of a small supernumerary marker chromosome (sSMC) derived from chromosome 11 represent an extremely rare cytogenomic condition. Methods: Herein, we present a review of reported sSMC(11), add 18 previously unpublished cases, and closely…
Background: Phelan-McDermid syndrome (PHMDS) is a rare genetic disorder mostly caused by haploinsufficincy of SHANK3 gene, and characterized by neonatal hypotonia, developmental delay, minor dysmorphic features, seizures and behavior problems. Literature of this syndrome is scanty and confusing, and…
In the short 10 years following the introduction of non-invasive prenatal testing (NIPT), it has been adapted in many countries around the world as a standard screening test. In this review, this development was analyzed with a special focus on Germany. As a result, it can be stated that all known advantages…
Cerebral cavernous malformations are clusters of aberrant vessels that can lead to severe neurological complications. Pathogenic loss-of-function variants in the CCM1 , CCM2 , or CCM3 gene are associated with the autosomal dominant form of the disease. While interpretation of variants in protein-coding…
Chromosomal fragile sites are described as areas within the tightly packed mitotic chromatin that appear as breaks or gaps mostly tracing back to a loosened structure and not a real nicked break within the DNA molecule. Most facts about fragile sites result from studies in mitotic cells, mainly during…
Cham (ZG): Springer International Publishing, 2021-03
Zusammenfassung Vor mehr als 130 Jahren wurden Chromosomen erstmals beschrieben. Die Analyse menschlicher Chromosomen in der humangenetischen Diagnostik etablierte sich rasch, nachdem die Anzahl der menschlichen Chromosomen mit 46 richtig bestimmt und mit Einführung der Bänderungszytogenetik vollzogen…
Die Karyotypen von 5 Hominidae-Genomen werden vergleichend zueinander, mit zum Teil speziell hierfür neu entwickelten Verfahren, grundlegend analysiert und umfassend sowie systematisch vergleichen (Multitude Multicolor Banding und Subtelomer-Subzentromer-Sondenset). Mit diesen neuen Techniken gelang…