Results 241 to 250 of about 158,249 (312)

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation

Clinical Genetics, EarlyView.
Copy number variations (CNVs) in 11p15.5 account for more than 2% of the molecular disturbances in the imprinting disorders Beckwith–Wiedemann and Silver–Russell syndrome. Their size and gene content vary, and therefore the impact on the phenotype is variable. Based on published data from > 220 carriers, an overview of the pathogenicity of 11p15.5 CNVs
Anastasia Maria Licata, Elke Botzenhart, Katja Kloth‐Stachnau, Thomas Eggermann   +3 more
wiley   +1 more source

TANC1::HTRA1 fusion in schwannomas

Brain Pathology, EarlyView.
Ilay Caliskan, Kanish Mirchia, Walter Patrick Devine, Melike Pekmezci   +3 more
wiley   +1 more source

Downregulation of MLL1 Promotes Intestinal Epithelial Barrier Repair Through Gata4/Bmp4 Activation to Ameliorate Crohn's Disease‐Like Colitis in Mice

Cell Proliferation, EarlyView.
This study elucidates the pivotal regulatory role and mechanism of MLL1 in inflammatory bowel disease. Experimental data demonstrated elevated MLL1 expression levels in TNBS‐induced murine colitis models, with pharmacological inhibition of MLL1 significantly promoting recovery from CD‐like colitis by accelerating intestinal barrier restoration ...
Xue Song, Jing Li, Yue Chen, Bohan Li, Yi Yang, Xiaofan Guan, Xiaofeng Zhang, Lu Tao, Zhijun Geng, Lugen Zuo, Yueyue Wang, Lian Wang, Jianguo Hu   +12 more
wiley   +1 more source

Rare Secondary Neoplasms Arising in Epidermal Nevus: A Case Series and Literature Review

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Malignant transformation is known to occur with many nevi, such as nevus sebaceus. However, cases of secondary tumors developing in an epidermal nevus (EN) are rare, with only a few case reports documented in the literature. We present three unique cases of syringocystadenoma papilliferum (SCAP), syringofibroadenoma, trichilemmoma, and basal ...
Haya A. Homsi, Melissa Piliang, Jennifer Lucas, Jennifer S. Ko, Steven D. Billings, Shira Ronen   +5 more
wiley   +1 more source

Worldwide Invasions of Centrarchidae: The Dark Side of the Sunfish Family

Fish and Fisheries, EarlyView.
ABSTRACT Freshwater fish invasions are major drivers of global ecological change, disrupting native biodiversity and ecosystem functions. However, many invasive fish hold significant socioeconomic value, resulting in conflict over their management. Centrarchidae, which are globally distributed and are important for sportfishing and aquaculture, are now
Neil Angelo Abreo, Jonathan Tibo, António Barbosa Nogueira, Athanasios Nikolaou, Cüneyt Kaya, Ali Serhan Tarkan, Irmak Kurtul, Stelios Katsanevakis, Ronaldo Sousa, Teun Everts, Emili García‐Berthou, John S. Hargrove, Ana Clara Sampaio Franco, Jelger Erik Herder, Julian D. Olden, Darragh J. Woodford, Antonín Kouba, J. Rob Britton, Ismael Soto, Phillip J. Haubrock   +19 more
wiley   +1 more source

Detection of Down syndrome by in situ hybridization with chromosome 21 specific DNA probes [PDF]

, 1990
Cremer, Thomas, Jauch, Anna, Lichter, Peter, Patterson, David, Ward, D. C.   +4 more
core  

LAT1/SLC7A5‐mediated amino acid uptake is regulated by redox signals triggered by formyl‐peptide receptor 2

The FEBS Journal, EarlyView.
FPR2 activation mediates NOX‐dependent LAT1 expression and, in turn, promotes mTORC1 signaling. Upon stimulation with WKYMVm, the FPR2‐NOX2‐ROS axis upregulates LAT1 via increased c‐Myc phosphorylation and decreased miR‐126. Additionally, it promotes CD98 translocation to the plasma membrane.
Myrhiam Cassese, Chiara Brignola, Stefano Marrone, Gabriella Esposito, Rosario Ammendola, Fabio Cattaneo   +5 more
wiley   +1 more source

H2‐dependent modulation of tetrahydromethanopterin S‐methyltransferase (Mtr complex) activity by the small protein MtrR in Methanosarcina mazei

The FEBS Journal, EarlyView.
Small protein MtrR is a regulator of the Mtr methyltransferase complex in Methanosarcina mazei. It binds specifically to the MtrA subunit and modulates Mtr activity in response to hydrogen (H2) availability. Deleting mtrR impairs growth in the presence but not absence of H2, indicating its role in directing methyl transfer toward an energy‐conserving ...
Tim Habenicht, Bjarne Hastedt, Liam Cassidy, Claudia Kießling, Andreas Tholey, Jan M. Schuller, Ruth A. Schmitz   +6 more
wiley   +1 more source

KU80 suppresses endonuclease G activity to preserve genomic integrity

The FEBS Journal, EarlyView.
Under normal conditions, EndoG remains restricted to mitochondria and the genome remains intact. When KU80 is absent, EndoG translocates into the nucleus, where it promotes DNA fragmentation and genomic instability. Thus, this work highlights the importance of KU80 in tightly controlling EndoG localization to preserve genome stability.
Jargalan Batsaikhan, Kwang‐Hyun Park, Hae Ryung Chang, Eunyoung Jung, Myung‐Jin Kim, Jeeyoon Kang, Hyunjo Shim, Eui‐Jeon Woo, Yonghwan Kim   +8 more
wiley   +1 more source