Life Sciences Commons^™

Primordial Germ Cell-Like Cells Differentiated In Vitro From Skin-Derived Stem Cells, Katja Linher, Paul Dyce, Julang Li

Paul W. Dyce

Background We have previously demonstrated that stem cells isolated from fetal porcine skin have the potential to form oocyte-like cells (OLCs) in vitro. However, primordial germ cells (PGCs), which must also be specified during the stem cell differentiation to give rise to these putative oocytes at more advanced stages of culture, were not systematically characterized. The current study tested the hypothesis that a morphologically distinct population of cells derived from skin stem cells prior to OLC formation corresponds to putative PGCs, which differentiate further into more mature gametes.

Methodology/Principal Findings When induced to differentiate in an appropriate microenvironment, a subpopulation …

Somatic Stem Cells Of Non-Gonadal Tissues: Their Germline Potential, Paul Dyce, Katja Linher, Julang Li

Paul W. Dyce

No abstract provided.

Myotonia Congenita, Christoph Lossin, Alfred George

Christoph Lossin, Ph.D.

Myotonia is a symptom of many different acquired and genetic muscular conditions that impair the relaxation phase of muscular contraction. Myotonia congenital is a specific inherited disorder of muscle membrane hyperexcitability caused by reduced sarcolemmal chloride conductance due to mutations invCLCN1, the gene coding for the main skeletal muscle chloride channel ClC-1.The disorder may be transmitted as either an autosomal-dominant or recessive trait with close to 130 currently known mutations. Although this is a rare disorder, elucidation of the pathophysiology underlying myotonia congenital established the importance of sarcolemmal chloride conductance in the control of muscle excitability and demonstrated the first …

A Catalog Of Scn1a Variants, Christoph Lossin

Christoph Lossin, Ph.D.

Over the past 10 years mutations in voltage-gated sodium channels (Navs) have become closely associated with inheritable forms of epilepsy. One isoform in particular, Nav1.1 (gene symbol SCN1A), appears to be a superculprit, registering with more than 330 mutations to date. The associated phenotypes range from benign febrile seizures to extremely serious conditions, such as Dravet’s syndrome (SMEI). Despite the wealth of information, mutational analyses are cumbersome, owing to inconsistencies among the Nav1.1 sequences to which different research groups refer. Splicing variability is the core problem: Nav1.1 co-exists in three isoforms, two of them lack 11 or 28 amino acids …