common variable immunodeficiency (cvid) and selective iga deficiency (sigad) are the most common primary antibody deficiencies. these two diseases may have coincidence in one family and sigad can progress to cvid which suggest common underlying genetic defects between sigad and cvid. this study was designed to find the prevalence of multiple cases in families of iranian patients with cvid or si...

fennel (foeniculum vulgare mill.) is widely cultivated for its edible, strongly-flavored leaves, fruits, seeds andmedicinal uses. as the wild and cultivated plants are influenced by environmental stresses, the effects of salt (25, 50 and 75 mm nacl), nitrogen and iron deficiency (0 n, 0.5 n of hoagland’s solution, 0 fe and 0.5 fe ofhoagland’s solution), 2°c cold (2, 3 and 4 h) and drought (3, 5...

Erythrocytes (approximately equal to 50% reticulocytes) obtained from a splenectomized patient with a thermolabile variant of glucosephosphate isomerase (GPI) deficiency showed a striking degree of crenation and decreased filterability through 3-micrometer Nuclepore filters (Nuclepore Corp., Pleasanton, Calif.). Membranes prepared by hypotonic lysis of such erythrocytes were found to contain a...

Abstract BACKGROUND Glioblastoma (GBM) is the most aggressive and lethal type of brain tumor. Activation PI3K/mTOR pathway along with loss its primary negative regulator, phosphatase tensin homolog (PTEN), occurs in nearly 50% GBM patients. As PTEN known to promote DNA damage repair deficiency, here we investigated whether deficiency presents a vulnerability simultaneous induction suppression m...

Complement is an acute-reacting non-specific effector system. Activation and consumption of individual components of this multicomponent system occur secondarily to specific complement fixing events. The complement system is therefore an indirect and imprecise diagnostic tool and can be used clinically only as a general indicator of the severity of a particular disease or as a monitor of its pr...

Nemaline myopathy (NM) is a congenital myopathy that can result in lethal muscle dysfunction and is thought to be a disease of the sarcomere thin filament. Recently, several proteins of unknown function have been implicated in NM, but the mechanistic basis of their contribution to disease remains unresolved. Here, we demonstrated that loss of a muscle-specific protein, kelch-like family member ...

The protein substrates of sirtuin 5-regulated lysine malonylation (Kmal) remain unknown, hindering its functional analysis. In this study, we carried out proteomic screening, which identified 4042 Kmal sites on 1426 proteins in mouse liver and 4943 Kmal sites on 1822 proteins in human fibroblasts. Increased malonyl-CoA levels in malonyl-CoA decarboxylase (MCD)-deficient cells induces Kmal level...

Hair follicle cells have a high turnover. A caloric deprivation or deficiency of several components, such as proteins, minerals, essential fatty acids, and vitamins, caused by inborn errors or reduced uptake, can lead to structural abnormalities, pigmentation changes, or hair loss, although exact data are often lacking. The diagnosis is established through a careful history, clinical examinatio...

Abstract Nitrogen sources are all converted into ammonium/ia as a first step of assimilation. It is reasonable to expect that molecular components involved in the transport across biological membranes connect with regulation both nitrogen and central metabolism. We applied genetic (i.e., Δamt mutation) environmental treatments target system, cyanobacterium Anabaena sp PCC 7120. The aim was pert...

Skin blistering disorders result from damaged proteins involved in the dermal-epidermal adhesion. The damage is either caused by genetically induced defects or autoantibodies targeting those proteins. In hereditary epidermolysis bullosa (EB) skin pathogenetically linked to genetic deficiency of distinct epidermis junction, but circulating against these have also been identified EB patients. So ...