Background: Primary adrenal insufficiency (PAI) is a rare but potentially life-threatening condition. Congenital adrenal hyperplasia (CAH) is the most common cause of PAI in children. To date, numerous non-CAH causes have been identified through genetic analysis but they remain poorly characterized.
View Article and Find Full Text PDFAPX proteins are HO-scavenging enzymes induced during oxidative stress. In the first part of this study, we provided an extensive knowledge on the APX family of Triticum durum, TdAPX and their related TdAPX-R, via the genome wide analysis. The outcomes showed that these proteins are clustered into four major subgroups.
View Article and Find Full Text PDFGardner syndrome (GS) is a subtype of familial adenomatous polyposis (FAP) characterized by colorectal polyps, multiple osteomas, soft tissue tumors, and specific oral manifestations, such as jaw osteomas. GS is caused by mutations in the APC gene, resulting in a nonfunctional protein. This study reports a comprehensive clinical evaluation and genetic analysis of a Tunisian family affected by GS.
View Article and Find Full Text PDFBackground: The process of preparing a scientific manuscript is intricate, encompassing several critical stages, including pre-writing, research development, drafting, peer review, editing, publication, dissemination, and access. Among these, the peer review process (PRP) stands out as a pivotal component requiring seamless collaboration among editors, reviewers, and authors. Reviewers play a crucial role in assessing the manuscript's quality and providing constructive feedback, which authors must adeptly navigate to enhance their work and meet journal standards.
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