background: uterine natural killer (unk) cells are the most abundant leukocytes in pre-implantation endometrium and early pregnancy deciduas in humans and rodents. they are associated with structural changes in maternal spiral arteries but regulation of their re-cruitment and activation is incompletely understood. the major subpopulation of unk cells in humans expresses cd56, the neural cell ad...

Osteogenesis imperfecta (OI) is a genetic disorder that results in low bone mineral density and brittle bones. Most cases result from dominant mutations in the type I procollagen genes, but mutations in a growing number of genes have been identified that produce autosomal recessive forms of the disease. Among these include mutations in the genes SERPINH1 and FKBP10, which encode the type I proc...

Background: Assisted fertilization procedures are a currently widespread practice to regulate reproduction in humans and animals. The arising question is why the human being manipulating gametes to generate new individuals, if we do not understand yet the molecular mechanism of fertilization?. Successful completion of fertilization in mammals is dependent on three membrane fusion events: 1. the...

Connexin proteins form gap junctions controlling exchange of ions and small molecules between cells play an important role in movement lymph within lymphatic vessels. Connexin47 (CX47) is highly expressed endothelial CX47 missense mutations, i.e., R260C, cosegregate with primary lymphedema humans. However, studies utilizing knockout mice have failed to demonstrate any anomalies. To unravel the ...

Craniorachischisis (CRN) is a severe neural tube defect (NTD) resulting from failure to initiate closure, leaving the hindbrain and spinal neural tube entirely open. Clues to the genetic basis of this condition come from several mouse models, which harbor mutations in core members of the planar cell polarity (PCP) signaling pathway. Previous studies of humans with CRN failed to identify mutatio...

background: the expression of mouse tumor necrosis factor alpha (tnf-α) in escherichia coli is a favorable way to get high yield of protein; however, the formation of cytoplasmic inclusion bodies, which is the consequence of insoluble accumulated proteins, is a major obstacle in this system. to overcome this obstacle, we used a pulsed dilution method to convert the product to its native conform...

Background: The expression of mouse tumor necrosis factor alpha (TNF-α) in Escherichia coli is a favorable way to get high yield of protein; however, the formation of cytoplasmic inclusion bodies, which is the consequence of insoluble accumulated proteins, is a major obstacle in this system. To overcome this obstacle, we used a pulsed dilution method to convert the product to its native c...

Background: The study of specific genes expressed in the testis is important to understanding testis development and function. Spermatogenesis is an attractive model for the study of gene expression during germ cell differentiation. Spermatogenesis associated-19 (Spata-19) is a recently-identified important spermatogenesis-related gene specifically expressed in testis. Its protein product is in...

Mesencephalic astrocyte-derived neurotrophic factor (MANF) is an endoplasmic reticulum (ER)–resident protein that plays a crucial role in attenuating ER stress responses. Although MANF indispensable for the survival and function of mouse ?-cells, its precise human ?-cell development unknown. In this study, we show lack humans results diabetes due to increased stress, leading impaired function. ...