Results 41 to 50 of about 426,611 (266)

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source

Frequency of Gc-globin promoter –158 (C>T) XmnI polymorphism in patients with homozygous/compound heterozygous beta thalassaemia

Hematology/Oncology and Stem Cell Therapy, 2015
BACKGROUND: Response to hydroxyurea therapy in homozygous or compound heterozygous beta thalassaemia (BT) has been reported as more favourable in the presence of XmnI polymorphism.
Nadir Ali, Muhammad Ayyub, Saleem Ahmed Khan, Suhaib Ahmed, Kazim Abbas, Hamid Saeed Malik, Sunila Tashfeen   +6 more
doaj   +1 more source

Association of leptin receptor gene polymorphisms and meta-inflammation markers with metabolically unhealthy obesity in children

Zaporožskij Medicinskij Žurnal, 2021
The aim: to study the contribution of single-nucleotide polymorphisms (SNP) of the leptin receptor (LEPR) gene and meta-inflammation markers to the formation of metabolically unhealthy obesity (MUO) in children. Materials and methods.
А. Е. Abaturov, A. O. Nikulina
doaj   +1 more source

Hyperosmotic stress induces PARP1‐mediated HPF1‐dependent mono(ADP‐ribosyl)ation

FEBS Letters, EarlyView.
Sorbitol‐induced hyperosmotic stress rapidly induces reversible mono(ADP‐ribosyl)ation (MARylation) on PARP1 without the signs of genotoxic signaling. We show that PARP1 autoMARylation is HPF1 dependent and forms hydroxylamine‐resistant O‐glycosidic linkages.
Anna Georgina Kopasz, Mihály Mérey, Rebeka Vásárhelyi, Ramóna Pék, Victor Imburchia, László Henn, Adrián Kószó, Nicholas D. Lakin, Ivan Ahel, Sébastien Huet, Ágnes Czibula, Gyula Timinszky   +11 more
wiley   +1 more source

Different inflammatory, fibrotic, and immunologic signatures between pre-fibrotic and overt primary myelofibrosis

Haematologica
Primary myelofibrosis (PMF) is a myeloid proliferative neoplasm (MPN) characterized by bone marrow (BM) fibrosis. Pre-fibrotic PMF (pre-PMF) progresses to overt PMF.
Seung-Hyun Jung, Sung-Eun Lee, Sujin Yun, Da-Eun Min, Youngjin Shin, Yeun-Jun Chung, Sug Hyung Lee   +6 more
doaj   +1 more source

Crucial parameters for precise copy number variation detection in formalin‐fixed paraffin‐embedded solid cancer samples

Molecular Oncology, EarlyView.
This study shows that copy number variations (CNVs) can be reliably detected in formalin‐fixed paraffin‐embedded (FFPE) solid cancer samples using ultra‐low‐pass whole‐genome sequencing, provided that key (pre)‐analytical parameters are optimized.
Hanne Goris, Vasiliki Siozopoulou, Léon C van Kempen, Anne Sieben, Ella Roelant, Stig Hellemans, Elyne Backx, Laure Sorber, Koen De Winne, Senada Koljenović, Karen Zwaenepoel   +10 more
wiley   +1 more source

Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma

Molecular Oncology, EarlyView.
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic, Anne Nørremølle, Lilian Bomme Ousager, Lars van Brakel Andersen, Marie Louise Mølgaard Binderup, Mads Thomassen   +5 more
wiley   +1 more source

Autopsy and postmortem examination case study on genetic risk factors for cardiac death: Polymorphisms of endothelial nitric oxide synthase gene Glu298asp variant and T-786c mutation, human paraoxonas [PDF]

Vojnosanitetski Pregled, 2006
Background/Aim. The Glu298Asp variant in exon 7 and T-786C mutation in the 5'-flanking region of the endothelial nitric oxide synthase (eNOS) gene, paraoxonase I gene (PON1), and α2β- adrenergic receptor gene (α2β-AR) have been reported to be genetic ...
Ameno Kiyoshi, Ameno Setsuko, Kinoshita Hiroshi, Jamal Mostofa, Wang Weihuan, Kumihashi Mitsuru, Uekita Ikuo, Ijiri Iwao   +7 more
doaj   +1 more source

Genetic Diversity of Cherry Laurel (Laurocerasus officinalis Roemer) BY SSR Markers

Journal of Agricultural Sciences, 2023
Cherry laurel (Laurocerasus officinalis) belongs to the Rosacea family. The main distribution area for edible cherry laurels is the Blacksea shores in Turkey.
Dicle Dönmez, Yıldız Aka Kaçar, Hale Orta, Ali İslam   +3 more
doaj   +1 more source

Longitudinal circulating tumor DNA profiling in patients with advanced endometrial cancer using an off‐the‐shelf targeted NGS panel

Molecular Oncology, EarlyView.
Intratumour heterogeneity complicates precision management of advanced endometrial cancer. Circulating tumor DNA (ctDNA) offers a minimally invasive strategy to capture tumor evolution and therapeutic resistance. Here, we compare tumor‐agnostic NGS with tumor‐informed ddPCR, outlining their relative sensitivity, concordance, and clinical implications ...
Carlos Casas‐Arozamena, Karin Teien Lande, Eva Diaz, Ana Vilar, Juan Cueva, Efigenia Arias, Victoria Sampayo, Alicia Abalo, Nerea González, Eva Colás, Antonio Gil‐Moreno, Miguel Abal, Gema Moreno‐Bueno, Therese Sørlie, Kristina Lindemann, Laura Muinelo‐Romay   +15 more
wiley   +1 more source