Results 91 to 100 of about 148,275 (313)

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Cytological features of penaut genome [PDF]

, 2017
The genus Arachis is composed of 82 species (Krapovickas and Gregory 1994; Valls and Simpson 2005; Valls et al 2013; Santana and Valls 2015) mainly distributed within a large region of South America, which extends from the eastern foothills of the Andes ...
Chalup, Laura María Isabel, Lavia, Graciela Inés, Ortiz, Alejandra Marcela, Robledo Dobladez, Germán Ariel, Samoluk, Sergio Sebastián, Seijo, José Guillermo, Silvestri, María Celeste   +6 more
core   +1 more source

SUMOylation regulates tumorigenesis and progression: Molecular mechanisms and therapeutic applications

Interdisciplinary Medicine, EarlyView.
SUMOylation, a dynamic post‐translational modification, acts as a master regulator at the heart of tumor malignancy. Our work delineates how the SUMOylation cycle—mediated by E1/E2/E3 enzymes and reversed by SENPs—orchestrates multiple hallmarks of cancer. The central pathway converges on three critical pathological axes: 1.
Yimao Wu, Zichang Chen, Yinting Hu, Gokhan Zengin, Qian Zhang, Meng‐Yao Li, Wenlong Sun   +6 more
wiley   +1 more source

Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells

Taiwanese Journal of Obstetrics & Gynecology, 2014
Objective: Prenatal detection of trisomy 8 mosaicism can be misleading and remains challenging in genetic counseling. Identifying cases of partial or complete trisomy 8 mosaicism will highlight the pitfalls of conventional karyotyping in prenatal ...
Meng-Che Tsai, Hsueh-Yin Cheng, Mei-Tsz Su, Ming Chen, Pao-Lin Kuo   +4 more
doaj   +1 more source

The Potential Of High-Resolution BAC-FISH In Banana Breeding [PDF]

, 2009
The genetic complexity in the genus Musa has been subject of study in many breeding programs worldwide. Parthenocarpy, female sterility, polyploidy in different cultivars and limited amount of genetic and genomic information make the production of new ...
Capdeville, G., De, Eugenio Cardamone Diniz, L., Jong, J.H.S.G.M., de, Kema, G.H.J., Souza, M.T., Swennen, R., Szinay, D., Wijnker, T.G.   +7 more
core   +2 more sources

Valorization of fruit pits from Prunus laurocerasus and Prunus cerasifera as agro‐food byproducts: Bioactive properties and safety assessment for potential food additive applications

Journal of the Science of Food and Agriculture, EarlyView.
Abstract BACKGROUND Food additives are widely used to extend the shelf life of foods and maintain their quality. In this study, the potential of Prunus laurocerasus and Prunus cerasifera fruit pits (endocarp and seed) as food additives was investigated in terms of cytotoxicity, antigenotoxicity, antioxidant activity, enzymatic anti‐browning, and urease
Zühal Bayrakçeken Güven, Mehmet Karadayı, Mustafa Abdullah Yilmaz, Osman Tugay, Oguz Cakir   +4 more
wiley   +1 more source

Cytogenetically Balanced Reciprocal Translocation Could Hide Molecular Genomic Unbalances: Implications for Foetal Phenotype Correlation

Diagnostics
When an increased nuchal translucency (>3.00 mm) is observed during the echographic examination of a foetus in the first trimester of pregnancy, an increased risk of chromosomopathy is considered, and the pregnant woman is offered the possibility of an ...
Nicoletta Villa, Serena Redaelli, Stefania Farina, Elena Sala, Francesca Crosti, Sabrina Cozzolino, Maria Verderio, Leda Dalprà, Gaia Roversi, Angela Bentivegna, Giovanni Cazzaniga, Marialuisa Lavitrano, Donatella Conconi   +12 more
doaj   +1 more source

Pallister–Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis

Taiwanese Journal of Obstetrics & Gynecology, 2016
Objective: Pallister–Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p).
Francesco Libotte, Domenico Bizzoco, Ivan Gabrielli, Alvaro Mesoraca, Pietro Cignini, Salvatore Giovanni Vitale, Ilaria Marilli, Ferdinando Antonio Gulino, Agnese Maria Chiara Rapisarda, Claudio Giorlandino   +9 more
doaj   +1 more source

Significance of chromosome 9p status in renal cell carcinoma:a systematic review and quality of the reported studies [PDF]

, 2014
Defining the prognosis of renal cell carcinoma (RCC) using genetic tests is an evolving area. The prognostic significance of 9p status in RCC, although described in the literature, remains underutilised in clinical practice. The study explored the causes
Cunningham, J., El-Mokadem, Ismail, Fitzpatrick, John, Fleming, Stewart, Nabi, Ghulam, Pratt, Norman, Rai, Bhavan   +6 more
core   +5 more sources

Euchromatic variants of 8q21.2 in twins

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: Euchromatic variants (EVs) of 8q21.2 are extremely rare chromosomal abnormalities. So, far there have only been two reports on EVs of 8q21.2. Here, we report an 8q21.2 EV detected in cultured amniotic-fluid cells of twins.
Xiao-Hui Song, Hui-Kuo Hsu, Mei-Tsz Su, Tai-Sheng Chang, Piing Yuh Su, Ming Chen, Pao-Lin Kuo   +6 more
doaj   +1 more source