Results 11 to 20 of about 94,537 (200)

Parkes Weber Syndrome: Contribution of the Genotype to the Diagnosis

Journal of Vascular Anomalies, 2023
Objectives:. Parkes Weber syndrome (PWS) is a rare disorder that combines overgrowth, capillary malformations, and arteriovenous malformations (AVM)/arteriovenous fistulas, for which underlying activating mutations in the ras/mitogen-activated protein ...
Themis-Areti A. Andreoti, Aleksandra Tuleja, Yvonne Döring, Massimo Maiolo, André Schaller, Erik Vassella, Christiane Zweier, Laurence M. Boon, Miikka Vikkula, Jochen Rössler, Sarah M. Bernhard, Iris Baumgartner   +11 more
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Role of mitochondrial metabolism in immune checkpoint inhibitors-related myocarditis

Frontiers in Cardiovascular Medicine, 2023
BackgroundImmune checkpoint inhibitor-related myocarditis is the deadliest complication of immunotherapy. However, the underlying pathophysiological mechanisms of its occurrence and development remain unclear. Due to the long-term lack of effective early
Xin Zhang, Yi Gan, Haoshuai Zhu, Zhihao Liu, Xiaojing Yao, Chao Cheng, Zhenguo Liu, Chunhua Su, Jianyong Zou   +8 more
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PTPN2 Deficiency Enhances Programmed T Cell Expansion and Survival Capacity of Activated T Cells

Cell Reports, 2020
Summary: Manipulating molecules that impact T cell receptor (TCR) or cytokine signaling, such as the protein tyrosine phosphatase non-receptor type 2 (PTPN2), has significant potential for advancing T cell-based immunotherapies.
Markus Flosbach, Susanne G. Oberle, Stefanie Scherer, Jana Zecha, Madlaina von Hoesslin, Florian Wiede, Vijaykumar Chennupati, Jolie G. Cullen, Markus List, Josch K. Pauling, Jan Baumbach, Bernhard Kuster, Tony Tiganis, Dietmar Zehn   +13 more
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PTK2 and PTPN11 expression in myelodysplastic syndromes

Clinics, 2013
OBJECTIVE: The aim of this study was to evaluate the expression of protein tyrosine kinase 2 and protein tyrosine phosphatase non-receptor type 11, which respectively encode focal adhesion kinase protein and src homology 2 domain-containing protein ...
Mariana Lazarini, Joao Agostinho Machado-Neto, Leticia Frohlich Archangelo, Bruna Fernandes Mendes-Silva, Carolina Louzao Bigarella, Fabiola Traina, Sara Teresinha Olalla Saad   +6 more
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PTPN11 (SHP2) Is Indispensable for Growth Factors and Cytokine Signal Transduction During Bovine Oocyte Maturation and Blastocyst Development

Cells, 2019
This study was aimed to investigate the role of SHP2 (Src-homology-2-containing phosphotyrosine phosphatase) in intricate signaling networks invoked by bovine oocyte to achieve maturation and blastocyst development.
Muhammad Idrees, Lianguang Xu, Seok-Hwan Song, Myeong-Don Joo, Kyeong-Lim Lee, Tahir Muhammad, Marwa El Sheikh, Tabinda Sidrat, Il-Keun Kong   +8 more
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Distinct and overlapping functions of ptpn11 genes in Zebrafish development. [PDF]

PLoS ONE, 2014
The PTPN11 (protein-tyrosine phosphatase, non-receptor type 11) gene encodes SHP2, a cytoplasmic PTP that is essential for vertebrate development. Mutations in PTPN11 are associated with Noonan and LEOPARD syndrome.
Monica Bonetti, Virginia Rodriguez-Martinez, Jeroen Paardekooper Overman, John Overvoorde, Mark van Eekelen, Chris Jopling, Jeroen den Hertog   +6 more
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PTPN11 Is a Central Node in Intrinsic and Acquired Resistance to Targeted Cancer Drugs

Cell Reports, 2015
Most BRAF (V600E) mutant melanomas are sensitive to selective BRAF inhibitors, but BRAF mutant colon cancers are intrinsically resistant to these drugs because of feedback activation of EGFR.
Anirudh Prahallad, Guus J.J.E. Heynen, Giovanni Germano, Stefan M. Willems, Bastiaan Evers, Loredana Vecchione, Valentina Gambino, Cor Lieftink, Roderick L. Beijersbergen, Federica Di Nicolantonio, Alberto Bardelli, Rene Bernards   +11 more
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In vivo efficacy of the AKT inhibitor ARQ 092 in Noonan Syndrome with multiple lentigines-associated hypertrophic cardiomyopathy. [PDF]

PLoS ONE, 2017
Noonan Syndrome with Multiple Lentigines (NSML, formerly LEOPARD syndrome) is an autosomal dominant "RASopathy" disorder manifesting in congenital heart disease.
Jianxun Wang, Vasanth Chandrasekhar, Giovanni Abbadessa, Yi Yu, Brian Schwartz, Maria I Kontaridis   +5 more
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Chicken novel leukocyte immunoglobulin-like receptor subfamilies B1 and B3 are transcriptional regulators of major histocompatibility complex class I genes and signaling pathways [PDF]

Asian-Australasian Journal of Animal Sciences, 2019
Objective The inhibitory leukocyte immunoglobulin-like receptors (LILRBs) play an important role in innate immunity. The present study represents the first description of the cloning and structural and functional analysis of LILRB1 and LILRB3 isolated ...
Anh Duc Truong, Yeojin Hong, Janggeun Lee, Kyungbaek Lee, Ha Thi Thanh Tran, Hoang Vu Dang, Viet Khong Nguyen, Hyun S. Lillehoj, Yeong Ho Hong   +8 more
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Molecular and environmental characterization of Noonan syndrome in Morocco reveals a significant association with consanguinity and advanced parental age

Egyptian Journal of Medical Human Genetics, 2020
Background Noonan syndrome (NS) is one of the most common RASopathies, with an autosomal dominant inheritance. This disorder is caused by a range of genes belonging to the RAS-MAP kinase (rat sarcoma viral oncogene homolog/mitogen-activated protein ...
Ihssane El Bouchikhi, Laila Bouguenouch, Fatima Zohra Moufid, Imane Samri, Fatima Abdouss, Moulay Abdelilah Melhouf, Mohammed Iraqui Houssaini, Khadija Belhassan, Samir Atmani, Karim Ouldim   +9 more
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