Functional characterisation of human recessive DIS3 variants in premature ovarian insufficiency.

Premature ovarian insufficiency (POI) is characterised by the loss or complete absence of ovarian activity in women under the age of 40. Clinical presentation of POI varies with phenotypic severity ranging from premature loss of menses to complete gonadal dysgenesis. POI is genetically heterogeneous with >100 causative gene variants identified thus far.

Diverse genetic causes of amenorrhea in an ethnically homogeneous cohort and an evolving approach to diagnosis.

Research Question: Premature ovarian insufficiency (POI) is characterised by amenorrhea associated with elevated follicle stimulating hormone (FSH) under the age of 40 years and affects 1-3.7% women. Genetic factors explain 20-30% of POI cases, but most causes remain unknown despite genomic advancements.

Molecular Study of Deletional and Nondeletional Mutations on the α-Globin Locus in the Azeri Population of Northwestern Iran.

The aim of this study was to determine the molecular spectrum and frequency of deletional and nondeletional α-thalassemia (α-thal) mutations and the genotype-phenotype correlation in common mutations in the Azeri population of Northwestern Iran. A total of 1256 potential carriers with microcytic and hypochromic anemia and normal Hb A levels (<3.5%) and without iron deficiency anemia plus three fetuses were identified.

The HLA-G 14bp insertion/deletion polymorphism in women with recurrent spontaneous abortion.

HLA-G is a non-classical HLA class Ib molecule with limited protein variability generated by alternative splicing. HLA-G displays immunotolerant properties and hence plays important roles in the maintenance of a successful pregnancy and maternal tolerance of the semiallogenic fetus. Polymorphism of the HLA-G gene may potentially affect the biological properties of the protein, and a 14-bp insertion/deletion polymorphism in exon 8 of the 3' untranslated region (3' UTR) of the HLA-G gene is thought to influence HLA-G expression.

Novel multi-layer APPPA microcapsules for oral delivery: preparation condition, stability and permeability.

Oral therapy utilizing cell microencapsulation has shown promise in the treatment of many diseases. Current obtainable microcapsule membranes, however, show inadequate stability in the gastrointestinal (GI) environment, thus restricting the general application of live cells for oral therapy. To overcome this limitation, we have previously developed a novel multilayer alginate/poly-L-lysine/pectin/poly-L-lysine/alginate microcapsule (APPPA) with demonstrated improvement on membrane stability over the frequently reported alginate/poly-L-lysine/alginate (APA) microcapsules.