Putative role of specific JAG1 gene exons in modulating clinical features in patients with leukoencephalopathy

2007 ◽  
Vol 418 (1) ◽  
pp. 1-3
Author(s):  
Carmine Ungaro ◽  
Teresa Sprovieri ◽  
Francesca L. Conforti ◽  
Maria Muglia ◽  
Alessandra Patitucci ◽  
...  
Keyword(s):  
Clinical Features ◽  
Putative Role

Presence and functional role of KiSS/KiSS-R system in pancreatic neuroendocrine tumors (panNETs) and its relationship with clinical features and tumor behavior

2018 ◽  
Author(s):  
Emilia Alors-Perez ◽  
Sergio Pedraza-Arevalo ◽  
Aura Herrera-Martinez ◽  
Angel J Diaz-Perez ◽  
Teresa Caro ◽  
...  
Keyword(s):  
Clinical Features ◽  
Neuroendocrine Tumors ◽  
Functional Role ◽  
Pancreatic Neuroendocrine Tumors

scholarly journals Importance of Apolipoprotein A-I and A-II Composition in HDL and Its Potential for Studying COVID-19 and SARS-CoV-2

Medicines ◽  
2021 ◽  
Vol 8 (7) ◽  
pp. 38
Author(s):  
Kyung-Hyun Cho
Keyword(s):  
Antiviral Activity ◽  
High Density ◽  
High Density Lipoproteins ◽  
Potent Antiviral Activity ◽  
Apolipoprotein A ◽  
Putative Role

The composition and properties of apolipoprotein (apo) A-I and apoA-II in high-density lipoproteins (HDL) might be critical to SARS-CoV-2 infection via SR-BI and antiviral activity against COVID-19. HDL containing native apoA-I showed potent antiviral activity, while HDL containing glycated apoA-I or other apolipoproteins did not. However, there has been no report to elucidate the putative role of apoA-II in the antiviral activity of HDL.

scholarly journals Native α-Synuclein, 3-Nitrotyrosine Proteins, and Patterns of Nitro-α-Synuclein-Immunoreactive Inclusions in Saliva and Submandibulary Gland in Parkinson’s Disease

Antioxidants ◽  
2021 ◽  
Vol 10 (5) ◽  
pp. 715
Author(s):  
Emilio Fernández-Espejo ◽  
Fernando Rodríguez de Fonseca ◽  
Juan Suárez ◽  
Eduardo Tolosa ◽  
Dolores Vilas ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Nervous System ◽  
Clinical Features ◽  
Clinical Feature ◽  
Similar Concentration ◽  
Duct Cells ◽  
Nitrative Stress ◽  
Salivary Concentration

Background. Salivary α-synuclein (aSyn) and its nitrated form, or 3-nitrotyrosine-α-synuclein (3-NT-αSyn), hold promise as biomarkers for idiopathic Parkinson’s disease (IPD). Nitrative stress that is characterized by an excess of 3-nitrotyrosine proteins (3-NT-proteins) has been proposed as a pathogenic mechanism in IPD. The objective is to study the pathological role of native αSyn, 3-NT-αSyn, and 3-NT-proteins in the saliva and submandibulary glands of patients with IPD. Methods. The salivary and serum αSyn and 3-NT-proteins concentration is evaluated with ELISA in patients and controls. Correlations of αSyn and 3-NT-proteins content with clinical features of the disease are examined. Immunohistochemical 3-NT-αSyn expression in submandibulary gland sections is analyzed. Results. (a) Salivary concentration and saliva/serum ratios of native αSyn and 3-NT-proteins are similar in patients and controls; (b) salivary αSyn and 3-NT-proteins do not correlate with any clinical feature; and (c) three patterns of 3-NT-αSyn-positive inclusions are observed on histological sections: rounded “Lewy-type” aggregates of 10–25 µm in diameter, coarse deposits with varied morphology, and spheroid inclusions or bodies of 3–5 µm in diameter. “Lewy-type” and coarse inclusions are observed in the interlobular connective tissue of the gland, and small-sized bodies are located within the cytoplasm of duct cells. “Lewy-type” inclusions are only observed in patients, and the remaining patterns of inclusions are observed in both the patients and controls. Conclusions. The patients’ saliva presents a similar concentration of native αSyn and 3-nitrotyrosine-proteins than that of the controls, and no correlations with clinical features are found. These findings preclude the utility of native αSyn in the saliva as a biomarker, and they indicate the absence of nitrative stress in the saliva and serum of patients. As regards nitrated αSyn, “Lewy-type” inclusions expressing 3-NT-αSyn are observed in the patients, not the controls—a novel finding that suggests that a biopsy of the submandibulary gland, if proven safe, could be a useful technique for diagnosing IPD. Finally, to our knowledge, this is also the first description of 3-NT-αSyn-immunoreactive intracytoplasmic bodies in cells that are located outside the nervous system. These intracytoplasmic bodies are present in duct cells of submandibulary gland sections from all subjects regardless of their pathology, and they can represent an aging or involutional change. Further immunostaining studies with different antibodies and larger samples are needed to validate the data.

Clinical, cellular, and molecular characterisation of cardiac rhabdomyoma in tuberous sclerosis

2021 ◽  
pp. 1-9
Author(s):  
Hamood N. Al Kindi ◽  
Ayman M. Ibrahim ◽  
Mohamed Roshdy ◽  
Besra S. Abdelghany ◽  
Dina Yehia ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Clinical Features ◽  
Tuberous Sclerosis Complex ◽  
Potential Role ◽  
Severe Disease ◽  
Cardiac Rhabdomyoma ◽  
Urgent Surgery ◽  
Pathogenic Mutations ◽  
Personalised Treatment

Abstract Background: Rhabdomyoma is the most common cardiac tumour in children. It is usually associated with tuberous sclerosis complex caused by mutations in TSC-1 or TSC-2 genes. This tumour typically regresses by unknown mechanisms; however, it may cause inflow or outflow obstruction that necessitates urgent surgery. Here we investigate the clinical features and the genetic analysis of patients with tuberous sclerosis complex presenting with large rhabdomyoma tumours. We also investigate the potential role of autophagy and apoptosis in the pathogenesis of this tumour. Methods: All the patients with cardiac rhabdomyoma referred to Aswan Heart Centre from 2010 to 2018 were included in this study. Sanger sequencing was performed for coding exons and the flanking intronic regions of TSC1 and TSC2 genes. Histopathological evaluation, immunohistochemistry, and western blotting were performed with P62, LC3b, caspase3, and caspase7, to evaluate autophagic and apoptotic signaling. Results: Five patients were included and had the clinical features of tuberous sclerosis complex. Three patients, who were having obstructive tumours, were found to have pathogenic mutations in TSC-2. The expression of two autophagic markers, P62 and LC3b, and two apoptotic markers, caspase3 and caspase7, were increased in the tumour cells compared to normal surrounding myocardial tissue. Conclusion: All the patients with rhabdomyoma were diagnosed to have tuberous sclerosis complex. The patients who had pathogenic mutations in the TSC-2 gene had a severe disease form necessitating urgent intervention. We also demonstrate the potential role of autophagy and apoptosis as a possible mechanism for tumourigenesis and regression. Future studies will help in designing personalised treatment for cardiac rhabdomyoma.

scholarly journals Aging diminishes the resistance of AO rats to EAE: putative role of enhanced generation of GM-CSF Expressing CD4+ T cells in aged rats

2015 ◽  
Vol 12 (1) ◽  
Author(s):  
Zorica Stojić-Vukanić ◽  
Mirjana Nacka-Aleksić ◽  
Ivan Pilipović ◽  
Ivana Vujnović ◽  
Veljko Blagojević ◽  
...  
Keyword(s):  
T Cells ◽  
Cd4 T Cells ◽  
Aged Rats ◽  
Gm Csf ◽  
Putative Role

Inflammatory Breast Cancer: Clinical Features and the Role of Multimodality Therapy

1996 ◽  
Vol 2 (5) ◽  
pp. 345-352 ◽  
Author(s):  
Vicente Valero ◽  
Aman U. Buzdar ◽  
Gabriel N. Hortobagyi
Keyword(s):  
Breast Cancer ◽  
Clinical Features ◽  
Inflammatory Breast Cancer ◽  
Multimodality Therapy

Recent insights on the putative role of autophagy in autoimmune diseases

2014 ◽  
Vol 13 (3) ◽  
pp. 231-241 ◽  
Author(s):  
Elena Gianchecchi ◽  
Domenico Vittorio Delfino ◽  
Alessandra Fierabracci
Keyword(s):  
Autoimmune Diseases ◽  
Putative Role

Site-Directed Mutagenesis of a Thermostable α-Amylase from Bacillus stearothermophilus: Putative Role of Three Conserved Residues1

1990 ◽  
Vol 107 (2) ◽  
pp. 267-272 ◽  
Author(s):  
Mauno Vihinen ◽  
Pauli Olikka ◽  
Jukka Niskanen ◽  
Peter Meyer ◽  
IIari Suominen ◽  
...  
Keyword(s):  
Bacillus Stearothermophilus ◽  
Site Directed Mutagenesis ◽  
Directed Mutagenesis ◽  
Putative Role

scholarly journals Putative role of cytokinin in differential ethylene response of two lines of antisense ACC oxidase cantaloupe melons

2013 ◽  
Vol 86 ◽  
pp. 511-519 ◽  
Author(s):  
Ciane Xavier Gonçalves ◽  
Aline Tiecher ◽  
Fábio Clasen Chaves ◽  
Leonardo Nora ◽  
Li Zhengguo ◽  
...  
Keyword(s):  
Acc Oxidase ◽  
Ethylene Response ◽  
Putative Role
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