Results 291 to 300 of about 449,479 (345)

R‐APEX: A Knowledge Graph–Based Platform for the Elucidation of the Toxicological Mechanisms of Ambient Particulate Matter

Advanced Intelligent Systems, EarlyView.
R‐APEX is a knowledge graph platform developed to investigate how air pollutants such as particularly fine particulate matter (PM2.5) affect human health. By integrating large‐scale biomedical data and using machine learning, it reveals pollutant–gene–disease associations.
Zhixing Zhu, Jingcheng Yang, Xiaofei Li, Zhijie Zheng, Georgi Z. Genchev, Yuchen Ye, Liang Liu, Zihan Ran   +7 more
wiley   +1 more source

Research progress and prospect of MAPK signaling pathway in knee osteoarthritis. [PDF]

Eur J Orthop Surg Traumatol
Fan Q, Zhao M, Zhang XD, Chu TY, Kou ZX, Zhao Q.   +5 more
europepmc   +1 more source

Integrative Genomic and Transcriptomic Analysis Reveals Targetable Vulnerabilities in Angioimmunoblastic T‐Cell Lymphoma

American Journal of Hematology, EarlyView.
ABSTRACT Nodal follicular helper T‐cell (TFH) lymphoma of the angioimmunoblastic (AITL) subtype has a dismal prognosis. Using whole‐exome sequencing (n = 124), transcriptomic (n = 78), and methylation (n = 40) analysis, we identified recurrent mutations in known epigenetic drivers (TET2, DNMT3A, IDH2R172) and novel ones (TET3, KMT2D).
Alyssa Bouska, Weiwei Zhang, Sunandini Sharma, Harald Holte, Rauf A. Shah, Waseem G. Lone, Mahfuza Afroz Soma, Ruimeng Yang, Xuxiang Liu, Syed Mehmood, Ravneet Singh Chawla, Luca Vincenzo Cappelli, Danilo Fiore, Qiang Gong, Tayla B. Heavican‐Foral, Jeffrey J. Cannatella, Catalina Amador, Aiza Arif, Lynette M. Smith, Soon Thye Lim, Choon Kiat Ong, Andrew L. Feldman, Ming‐Qing Du, Anamarija M. Perry, Laurence de Leval, Timothy C. Greiner, Kai Fu, Gunhild Trøen, Daniel Vodák, Sigve Nakken, Jan Delabie, David Weinstock, Stefano Pileri, Antonella Laginestra, KyeongJin Kim, Utpal Pajvani, Julie M. Vose, Dennis D. Weisenburger, Steven M. Horwitz, Sandeep Dave, Joseph Khoury, Giorgio Inghirami, Wing C. Chan, Javeed Iqbal   +43 more
wiley   +1 more source

Cynaropicrin induces the apoptosis of colorectal cancer cells by elevating reactive oxygen species and activating the JNK/p38 MAPK. [PDF]

Am J Cancer Res
Seo SY, Joo SH, Lee SO, Kim KT, Choi YH, Yoon G, Park JW, Shim JH.   +7 more
europepmc   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Artesunate disrupts germ layer formation by inhibiting BMP signaling pathway. [PDF]

Anim Cells Syst (Seoul)
Kim MS, Yoon GH, Choi SC.
europepmc   +1 more source

Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders, Fieke Draaisma, Corrie E. Erasmus, Catelijne Coppens, Lotte E. R. Kleimeier, Melanie Burgers, Tuula Rinne, Martin Zenker, Laura Mazzanti, Wesley Reintjes, Nens van Alfen, Jos M. T. Draaisma   +11 more
wiley   +1 more source

Ligand-activated EGFR/MAPK signaling but not PI3K, are key resistance mechanisms to EGFR-therapy in colorectal cancer. [PDF]

Nat Commun
Qu X, Hamidi H, Johnson RM, Sokol ES, Lin E, Eng C, Kim TW, Bendell J, Sivakumar S, Kaplan B, de Sousa E Melo F, Mancini A, Wongchenko M, Shi Y, Shames D, Yan Y, Ciardiello F, Bais C.   +17 more
europepmc   +1 more source

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo, Simona Petrucci, Giuliana Lentini, Marco Fabiani, Maria Piane, Francesco Pisani   +5 more
wiley   +1 more source

Genome-wide identification and unveiling the role of MAP kinase cascade genes involved in sugarcane response to abiotic stressors. [PDF]

BMC Plant Biol
Ali A, Zhao XT, Lin JS, Zhao TT, Feng CL, Li L, Wu RJ, Huang QX, Liu HB, Wang JG.   +9 more
europepmc   +1 more source