• MeSH
• agresivní parodontitida genetika   imunologie   patofyziologie   MeSH
• antigeny CD18 metabolismus   MeSH
• barvicí látky MeSH
• chemotaxe leukocytů genetika   MeSH
• dominantní geny MeSH
• dospělí MeSH
• lidé MeSH
• mladiství MeSH
• neutrofily imunologie   metabolismus   fyziologie   MeSH
• oxidace-redukce MeSH
• techniky in vitro MeSH
• tetrazoliové soli metabolismus   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• antigeny CD18 MeSH
• barvicí látky MeSH
• iodonitrotetrazolium MeSH Prohlížeč
• tetrazoliové soli MeSH

Reconstruction of heterogeneity through single cell transcriptional profiling has greatly advanced our understanding of the spatial liver transcriptome in recent years. However, global transcriptional differences across lobular units remain elusive in physical space. Here, we apply Spatial Transcriptomics to perform transcriptomic analysis across sectioned liver tissue. We confirm that the heterogeneity in this complex tissue is predominantly determined by lobular zonation. By introducing novel computational approaches, we enable transcriptional gradient measurements between tissue structures, including several lobules in a variety of orientations. Further, our data suggests the presence of previously transcriptionally uncharacterized structures within liver tissue, contributing to the overall spatial heterogeneity of the organ. This study demonstrates how comprehensive spatial transcriptomic technologies can be used to delineate extensive spatial gene expression patterns in the liver, indicating its future impact for studies of liver function, development and regeneration as well as its potential in pre-clinical and clinical pathology.

• MeSH
• anotace sekvence MeSH
• B-lymfocyty cytologie   metabolismus   MeSH
• dendritické buňky cytologie   metabolismus   MeSH
• endoteliální buňky cytologie   metabolismus   MeSH
• erytroblasty cytologie   metabolismus   MeSH
• genetická heterogenita * MeSH
• genová ontologie MeSH
• hepatocyty cytologie   metabolismus   MeSH
• játra cytologie   metabolismus   MeSH
• Kupfferovy buňky cytologie   metabolismus   MeSH
• makrofágy cytologie   metabolismus   MeSH
• myši inbrední C57BL MeSH
• myši MeSH
• neutrofily cytologie   metabolismus   MeSH
• stanovení celkové genové exprese MeSH
• transkriptom * MeSH
• zvířata MeSH
• Check Tag
• myši MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

INTRODUCTION: Chronic granulomatous disease (CGD) is an inherited mutational defect in any of the NADPH oxidase complex, CYBB (gp91-phox), NCF1 (p47-phox), CYBA (p22-phox), NCF2 (p67-phox), or NCF4 (p40-phox) leading to inability of phagocytes to perform effective respiratory burst and thus diminished killing of bacteria and fungi. The identification of defective proteins aids in establishing a diagnosis prior to genetic analysis, which is rather labor-intensive, expensive, and time-consuming. AIM: The present study aims at assessing the NADPH proteins by performing the intracellular staining with specific monoclonal antibodies and their assessment on flow cytometry. The use of flow cytometry is less laborious and faster to perform than western blot. It also confirms the diagnosis of CGD and detects the affected components allowing proper management of patients. MATERIALS AND METHODS: Twenty-eight patients from 25 different kindred, clinically suspected as CGD were recruited in Egypt. Dihydrorhodamine test was performed to confirm the diagnosis of the patients. Intracellular staining of NADPH components using specific monoclonal antibodies was performed followed by flow cytometric analysis. RESULTS: The present study revealed that the most common defective protein in our cohort is p22-phox, found in 13 patients (46.4 % of cases) followed by p47-phox in 8 patients (28.6 %), gp91-phox in 5 patients (17.9 %), and finally p67-phox in 2 patients (7.1 %). CONCLUSION: In countries with limited resources and yet large number of CGD patients, the analysis of the defective proteins by flow cytometry is an optimum solution for confirming the diagnosis and is a step for targeted sequencing in families seeking prenatal diagnosis.

• Klíčová slova
• CYBA, CYBB, Chronic granulomatous disease, Flow cytometry, NCF1, NCF2,
• MeSH
• biologické markery MeSH
• chronická granulomatózní nemoc diagnóza   genetika   imunologie   metabolismus   MeSH
• dítě MeSH
• genotyp MeSH
• imunofenotypizace MeSH
• kojenec MeSH
• lidé MeSH
• mutace MeSH
• NADP metabolismus   MeSH
• NADPH-oxidasy metabolismus   MeSH
• neutrofily imunologie   metabolismus   MeSH
• předškolní dítě MeSH
• průtoková cytometrie MeSH
• rizikové faktory MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Egypt MeSH
• Názvy látek
• biologické markery MeSH
• NADP MeSH
• NADPH-oxidasy MeSH