Furthermore, mutation type may serve as a genetic determinant
of deafness, but not cardiac expressivity, in individuals harboring >= 1 KCNQ1 mutation on each allele. (Circ Cardiovasc Genet. 2013;6:193-200.)”
“We report a phenotypically normal couple with repeated spontaneous abortions and without other clinical features. Clinical, hematological, biochemical, and endocrinological aspects of the couple did not reveal any abnormalities. The karyotype of the wife was normal (46,XX), while the husband was found to Selleckchem BTK inhibitor have an abnormal karyotype, 47,XY,+der(22) mat. The marker chromosome was familial and non-satellite. Although the potential risk of small supernumerary marker chromosomes for spontaneous abortions cannot be defined precisely, marker chromosomes, together with methods used for ascertainment, are also click here factors to be considered when investigating infertility
consequences. Furthermore, identification of the origin of a marker chromosome may provide additional information for patient karyotype-phenotype correlations. Further studies, such as molecular analyses to identify the breakpoint, are necessary for investigating phenotype-genotype correlations and assessment of genetic risks for small secondary chromosomes. The cause of repeated spontaneous abortions in this couple might be the presence of this marker chromosome in the husband. Consequently, we recommended genetic counseling before further pregnancies.”
“Immunomagnetic separation (IMS) is a method to isolate biomaterials from a host fluid in which specifically selected antibodies attached to magnetic particles
bind with their corresponding antigens on the surface of the target biological entities. A magnet separates these entities from the fluid through magnetophoresis. The method has promising applications in microscale NU7026 biosensors. We develop a comprehensive model to characterize the interaction between target species and magnetic particles in microfluidic channels. The mechanics of the separation of target nonmagnetic N particles by magnetic M particles are investigated using a particle dynamics simulation. We consider both interparticle magnetic interactions and the binding of the functionalizing strands of complementary particles. The temporal growth of a particle aggregate and the relative concentrations of M and N particles are investigated under different operating conditions. A particle aggregate first grows and then exhibits periodic washaway about a quasisteady mean size. The washaway frequency and amplitude depend on the initial fractional concentration of N particles while the aggregate size scales linearly with the dipole strength and inversely with the fluid flow rate.”
“Chloride channel (CLC)-type Cl-/H+ exchangers are widespread throughout the biological world, and one of these, CLC-ec1 from Escherichia coli, has been extensively studied.