Generation of the induced pluripotent stem cell line UNIBSi017-A from an individual with cardiospondylocarpofacial syndrome and the MAP3K7 c.737-7A > G variant.

TAK1 is a serine threonine kinase that mediates signal transduction induced by TGFβ and bone morphogenetic proteins, and controls a variety of cell functions by modulating the downstream activation of NF-kkB, JNK, and p38. Heterozygous variants in the coding MAP3K7 gene cause the cardiospondylocarpofacial syndrome, characterized by various abnormalities. Skin fibroblasts derived from a patient carrying the MAP3K7 c.

Forensic DNA Typing From Femurs and Bones of the Foot: A Study of 3 Cases.

Evidence has been accumulating in the sense that femur may not always be the best option for DNA typing of skeletal remains. Recent studies have shown that bones of the hands and feet appear to be a superior source of preserved DNA. The current study reanalyzed DNA quantitation, degradation, and short tandem repeat typing in femurs, lateral cuneiforms, and distal foot phalanges.

Large fragment demineralization: an alternative pretreatment for forensic DNA typing of bones.

In forensic genetics, the analysis of postmortem bones is one of the most challenging due to the low quantity of degraded endogenous DNA. The most widely used approach for sample preparation, in those cases, is pulverizing the bone. However, processing pulverized bone is extremely delicate, requiring strict laboratory conditions and operating procedures.

Simultaneous DNA and RNA profiling in a case of sexual assault in a 3-year-old child: Forensic genetics solves the crime.

DNA profiling can identify an individual from a sample of biological material but it does not reveal what body fluid or tissue source the DNA profile originated from. In many cases it is important to know from what body fluid or tissue the DNA profile originated in order to provide crucial information necessary to the investigation, especially in cases where the victims are not able to give information about the dynamics of the event. For this purpose messenger RNA (mRNA) analysis has been shown to be a suitable method for the identification of body fluids, resulting in a trend to overcome the conventional approaches.

Human identification through DNA analysis of restored postmortem teeth.

The identification of human remains using DNA analysis can be extremely challenging and its success is certainly influenced by the time elapsed since death. In that context, intact teeth have been shown to be highly successful in DNA analysis. However, restored teeth are usually available and, surprisingly, these specimens have been poorly studied.