Results 211 to 220 of about 105,723 (318)

A Balanced Reciprocal Translocation t(2;9)(p25;q13) Disrupting the LINC00299 Gene in a Patient with Intellectual Disability [PDF]

, 2019
Halinna Dornelles-Wawruk, Romina Soledad Heredia, Milton Rego de Paula-Júnior, Maria Terezinha Cardoso, Raphael Severino Bonadio, Bianca F. dos Reis, Aline Pic‐Taylor, Silviene Fabiana de Oliveira, Juliana F. Mazzeu   +8 more
openalex   +1 more source

Biomechanical Phenotyping Reveals Unique Mechanobiological Signatures of Early‐Onset Colorectal Cancer

Advanced Science, EarlyView.
This study identifies a unique physical signature of colorectal cancer in younger adults: their tissues are mechanically stiffer than those in older patients with the same cancer. Furthermore, stromal remodeling in early‐onset colorectal cancer promotes epithelial mechanotransduction and proliferation, showing how mechanical alterations in the tissue ...
Nicole C. Huning, Munir H. Buhaya, Victor V. Nguyen, Afeefah Khazi‐Syed, Haider A. Ali, Adil Khan, Angela Fan, Robert C. Fisher, Zhikai Chi, Indu Raman, Guangchun Chen, Chengsong Zhu, Mengxi Yu, Andrew R. Jamieson, Sara Roccabianca, Victor D. Varner, Cheryl M. Lewis, Emina H. Huang, Jacopo Ferruzzi   +18 more
wiley   +1 more source

Targeting Microglial CD49a Inhibits Neuroinflammation and Demonstrates Therapeutic Potential for Parkinson's Disease

Advanced Science, EarlyView.
This study shows that integrin receptor CD49a (Itga1 gene) is significantly upregulated in hyperactivated microglia and microglia‐specific knockdown of Itga1 rescues neuroinflammation and neurodegeneration in a chronic Parkinson's disease (PD) model by targeting PGAM5‐mediated mitochondrial dysfunction and NLRP3 activation. Targeted inhibition of CD49a
Huanpeng Lu, Yunmin Zhu, Xi Wang, Zelin Wu, Zijian Xu, Rongqing Chen, Yanwu Guo   +6 more
wiley   +1 more source

A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype [PDF]

, 2015
Amedeo Primerano, Emma Colao, Chiara Villella, M. D. Nocera, A. Ciambrone, Enzo Gonçalves Luciano, Lucia D’Antona, Marco Flavio Michele Vismara, Sara Loddo, Antonio Novelli, Nicola Perrotti, Paola Malatesta   +11 more
openalex   +1 more source

Targeting Lactate and Lactylation in Cancer Metabolism and Immunotherapy

Advanced Science, EarlyView.
Lactate, once deemed a metabolic waste, emerges as a central regulator of cancer progression. This review elucidates how lactate and its epigenetic derivative, protein lactylation, orchestrate tumor metabolism, immune suppression, and therapeutic resistance.
Jiajing Gong, Yuhang Xie, Zhijie Weng, Yongzhi Wu, Longjiang Li, Bo Li   +5 more
wiley   +1 more source

A-58 Rare Case of Klinefelter Syndrome with 13/14 Balanced Translocation and Absence Epilepsy: Impact of Combined Genotypes on Cognitive Neuropsychological Phenotype [PDF]

, 2019
Shaina Shagalow, Ronda Facchini, D Masur, Erica Weiss, Sabrina Schneider, Sandra Jacobs, Elissa Yozawitz, John J. McGinley   +7 more
openalex   +1 more source

The Pivotal Role of GR‐CAR Pathway in Fetal Programming of Hepatic Cytochrome P450 3A Alteration in Adulthood

Advanced Science, EarlyView.
Prenatal dexamethasone exposure (PDE) persistently upregulates hepatic CYP3A1/CYP2B1 in offspring via glucocorticoid receptor (GR) activation. In vivo and in vitro studies show GR promotes P300/CBP binding to the constitutive androstane receptor (CAR) promoter, sustaining histone acetylation (H3K9/K27ac) and enhancing CYP expression. The GR–CAR pathway
Xiaoxiang Sun, Jie Liu, E Xiang, Xia Li, Xuerong Yan, Yuxi Wang, Feng Li, Hao Kou, Hui Wang, Yu Guo   +9 more
wiley   +1 more source

Mortality and Cancer Incidence in Carriers of Balanced Robertsonian Translocations: A National Cohort Study [PDF]

, 2018
Minouk J. Schoemaker, Michael E. Jones, Craig Higgins, Alan F. Wright, Anthony J. Swerdlow   +4 more
openalex   +1 more source

IL‐4/STAT6‐signaling Influences Local Inflammation and Regeneration Processes During Acute Pancreatitis and Promotes Fibrosis by a Direct Activation of Pancreatic Fibroblasts During Chronic Pancreatitis

Advanced Science, EarlyView.
IL‐4/IL‐13/STAT6 signaling plays a crucial for the suppression of pro‐inflammation during acute pancreatitis and supports acinar cell regeneration but has only minor impact on fibrogenesis during chronic form of the disease. IL‐4/IL‐13 induce the expression of certain collagens directly in pancreatic fibroblasts via STAT6 activation, whereas ...
ElSheikh H, Salvers A, Piesker J, Buchholz S, Lange R, Ameling S, Steil L, Hammer E, Homuth G, Völker U, Bröker BM, Weiss FU, Sendler M, Glaubitz J   +13 more
wiley   +1 more source

Diminished ovarian reserve in a woman with a balanced 13;21 translocation [PDF]

, 2008
Nicole Kummer, J. Ryan Martin, Lubna Pal
openalex   +1 more source