Background Following sperm penetration, oocyte is activated by sperm oocyte activating factors (SOAFs) released by sperm. Spermspecific phospholipase C isoform ζ (PLCζ) and post acrosomal WW binding protein (PAWP) are two nominees for the SOAF. PLCζ is located back-to-back with another testis-specific gene called CAPZA3. These two genes share a common bidirectional promoter. In this study we as...

familial defective apolipoprotein (apo) b 100 (fdb) causes early-onset coronary heart diseases (chd). it is produced by r3500q mutation of the apob gene resulting in decreased binding of ldl to ldl receptor. we screened the apo b gene for r3500q mutation in 130 hypercholesterolemic patients, among whom 30 patients met criteria of familial hypercholesterolemia (fh). the prevalence of r3500q alle...

Sever-Chroneos, Zvjezdana, Cindy J. Bachurski, Cong Yan, and Jeffrey A. Whitsett. Regulation of mouse SP-B gene promoter by AP-1 family members. Am. J. Physiol. 277 (Lung Cell. Mol. Physiol. 21): L79–L88, 1999.—The regulatory role of activator protein-1 (AP-1) family members in mouse surfactant protein (SP) B (mSP-B) promoter function was assessed in the mouse lung epithelial cell line MLE-15. ...

The B.1.1.7 variant of SARS-CoV-2 first detected in the UK harbors amino-acid substitutions and deletions spike protein that potentially enhance host angiotensin conversion enzyme 2 (ACE2) receptor binding viral immune evasion. Here we report cryo-EM structures apo ACE2-bound forms. form showed one or two receptor-binding domains (RBDs) open conformation, without populating fully closed state. ...

Mucopolysaccharidosis type IIIC (MPSIIIC) is a rare subtype of mucopolysaccharidosis disorder family caused by mutations in heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. MPSIIIC is subdivided into four subtypes which have overlapping features, and are indistinguishable at clinical level. In populations with high consanguineous marriage rate, homozygosity mapping can be a good c...

We have developed an advantageous epithelial cell transfection model for examining the targeting, interactions, and mutations of hair cell proteins. When expressed in LLC-PK1-CL4 epithelial cells (CL4 cells), the outer hair cell protein prestin showed faithful domain-specific targeting to the basolateral plasma membrane. We examined the consequences of mutations affecting prestin activity and a...

Objective(s) Staphylococcus aureus is a foremost source of numerous nosocomial and community acquired infections. Antibiotic therapy for vancomycin resistant S. aureus (VRSA) can not promise the eradication of infections. Since adhesion is the major route of infections, adhesin based vaccine could suppress S. aureus infections. Fibronectin binding protein A (FnBPA) and clumping factor A (ClfA)...

The WW domain-containing PQBP1 (polyglutamine tract-binding protein 1) protein regulates mRNA processing and gene transcription. Mutations in the PQBP1 gene were reported in several X chromosome-linked intellectual disability (XLID) disorders, including Golabi-Ito-Hall (GIH) syndrome. The missense mutation in the GIH syndrome maps within a functional region of the PQBP1 protein known as the WW ...

SARS-CoV-2 is a recently emerged, novel human coronavirus responsible for the currently ongoing COVID-19 pandemic. Recombination well-known evolutionary strategy of coronaviruses, which may frequently result in significant genetic alterations, such as deletions throughout genome. In this study we identified co-infection with two genetically different viruses within single patient sample via amp...

The viral Myb (v-Myb) oncoprotein of the avian myeloblastosis virus (AMV) is an activated form of the cellular transcription factor c-Myb causing acute monoblastic leukemia in chicken. Oncogenic v-Myb alterations include N- and C-terminal deletions as well as point mutations. Whereas truncations in Myb cause loss of various protein modifications, none of the point mutations in v-Myb has been di...