Results 71 to 80 of about 906,055 (304)

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

THE GENETIC BASIS OF PRIMARY ADULT-ONSET DYSTONIA

, 2011
Objectives. To identify novel genetic loci associated with primary adult-onset dystonia (AOD) and assess candidate genes from the literature. Secondary aimes.
Esposito, Marcello
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Adult-onset pompe’s disease presenting with insidious hypercapnic respiratory failure

, 2016
Orthopnoea is commonly attributed to heart failure but can be caused by diaphragm weakness, which, when severe, is often associated with hypercapnic respiratory failure.
Tsang, B, Tay, G, Masel, P, Henderson, R, O’Callaghan, C   +4 more
core   +1 more source

Hippo pathway at the crossroads of stemness and therapeutic resistance in breast cancer

Molecular Oncology, EarlyView.
Dysregulation of the Hippo pathway drives nuclear accumulation of YAP/TAZ, activating stemness‐related transcriptional programs that sustain breast cancer stemness and fuel therapeutic resistance across subtypes, underscoring Hippo signaling as a targetable vulnerability. Figure created and edited with BioRender.com.
Giulia Schiavoni, Antonella Palmese, Stefano Scalera, Laura Cipriani, Davide Mascolo, Patrizia Vici, Teresa Arcuri, Lorena Filomeno, Eriseld Krasniqi, Giovanni Blandino, Giulia Bon, Marcello Maugeri‐Saccà   +11 more
wiley   +1 more source

Interleukin-18 and fibroblast growth factor 2 in combination is a useful diagnostic biomarker to distinguish adult-onset Still's disease from sepsis [PDF]

, 2020
Objective: To identify potential biomarkers to distinguish adult-onset Still's disease (AOSD) from sepsis. Method: We recruited 70 patients diagnosed with AOSD according to the Yamaguchi criteria, 22 patients with sepsis, and 118 age-matched controls ...
Kawashiri, Shin-ya, Kawakami, Atsushi, Furukawa, Kaori, Migita, Kiyoshi, Shimizu, Toshimasa, Kondo, Hideaki, Sato, Shuntaro, Origuchi, Tomoki, Fukui, Shoichi, Iwamoto, Naoki, Koga, Tomohiro, Tamai, Mami, Maeda, Takahiro, Nakamura, Hideki, Umeda, Masataka, Nonaka, Fumiaki, Yachie, Akihiro, Sumiyoshi, Remi, Endo, Yushiro, Ichinose, Kunihiro   +19 more
core   +1 more source

Hijacking emergency granulopoiesis: Neutrophil ontogeny and reprogramming in cancer

Molecular Oncology, EarlyView.
Neutrophils are highly plastic innate immune cells; their functions in cancer extend beyond the tumour microenvironment. This Review summarises current understanding of neutrophil maturation and heterogeneity and highlights tumour‐induced granulopoiesis as a systemic programme that expands immature, immunosuppressive neutrophils via tumour‐derived ...
Gabriela Marinescu, Yi Feng
wiley   +1 more source

Loss of proton‐sensing TDAG8 increases tumor progression in mouse models of colon cancer

Molecular Oncology, EarlyView.
Loss of the pH‐sensing receptor TDAG8 accelerates colorectal cancer progression in mice. Animals lacking TDAG8 expression had increased tumor growth, DNA damage, and recruitment of tumor‐associated immune cells, including macrophages, neutrophils, and monocytes.
Ermanno Malagola, Yasmine Illi, Anna Bircher, Marijn Wilmink, Rachele F. Malagutti, Solenn Ottié, Cordelia Schuler, Pedro A. Ruiz, Cheryl de Vallière, Klaus Seuwen, Gerhard Rogler, Martin Hausmann   +11 more
wiley   +1 more source

Adult Onset Still's Disease - current state of knowledge

Journal of Education, Health and Sport
Introduction: Adult-onset Still’s disease (AOSD) is a rare systemic inflammatory disorder of unknown etiology. AOSD lies at the crossroads of innate and adaptive immunity, highlighting the complexity of its pathogenesis.
Anna Centkowska, Natalia Katarzyna Wagner-Bieleń, Martyna Zwierzchowska, Agata Antoniak, Anna Maria Jocz, Joanna Karina Banaśkiewicz, Aleksandra Maria Żyta, Gabriela Helena Dąbrowska, Maria Anna Żmijewska, Jakub Ziółkowski   +9 more
doaj   +1 more source

Epigenetic heterogeneity and plasticity in therapy‐induced tumor states through single‐cell multi‐omics

Molecular Oncology, EarlyView.
Single‐cell multi‐omics reveals epigenetic heterogeneity across therapy‐adaptive tumor states, including quiescent/dormant, drug‐tolerant persister, and EMT‐like phenotypes. By linking regulatory features with state‐associated biomarkers, these approaches inform biomarker‐guided therapeutic strategies for evolving tumors.
Hee Jung Kim, Hwiyeong Lee, Jin Hong, Daechan Park   +3 more
wiley   +1 more source

Adult-onset bulbar ptosis in Joubert syndrome

, 2012
Benjamin Burt, Johanan Levine, Kim LeTexas Tech University, Department of Ophthalmology, Paul L Foster School of Medicine, El Paso, TexasAbstract: In this case report, we describe a case of adult-onset bulbar ptosis in a patient with Joubert syndrome ...
Le K, Burt B, Levine J
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