Results 71 to 80 of about 33,733 (216)
Improved renal function in neurofibromatosis type 1 patients
Skin Health and Disease, 2022 Neurofibromatosis type 1 (NF1), or von Recklinghausen disease, is an autosomal dominant disease that presents with various symptoms, including café‐au‐lait spots and neurofibromas.
Ken‐ichi Yasuda +2 more
doaj +1 more source
International Journal of Cancer, EarlyView.While current guidelines recommend the analysis of established cancer driver genes in brain metastases, little is known about its real‐life implementation. This multicenter study revealed an upward trend in the profiling rates of surgically treated brain metastases over the past decade, with up to 60% of brain metastases samples undergoing analysis ...
Maria Nikolaeva +25 more
wiley +1 more source
iNew Medicine, EarlyView.ABSTRACT Ovarian cancer (OC) continues to be the deadliest gynecological malignancy and a significant cause of cancer‐related mortality among women worldwide. Standard treatment strategies typically entail platinum‐based chemotherapy in conjunction with cytoreductive surgery.
Zunera Khalid +4 more
wiley +1 more source
Journal of the Chinese Chemical Society, EarlyView.Model for how α‐syn modulates the positioning of endolysosomes in melanoma cells. (a) α‐syn tethers endolysosomes to the plasma membrane, a last step in anterograde transport. (b) Loss of α‐syn expression causes the loss of the tethering function, which leads to perinuclear vesicle clustering. Reproduced from the open access article.
Stephan N. Witt
wiley +1 more source
Journal of Surgical Oncology, EarlyView.ABSTRACT Background and Objectives Succinate dehydrogenase‐deficient (SDH‐deficient) gastrointestinal stromal tumors (GIST) are characterized by variable disease biology with poor responses to traditional tyrosine kinase inhibitors. The role of surgical intervention has been highly debated.
Katherine Y. Chen +6 more
wiley +1 more source
Genetic analysis of primary lung interdigitating dendritic cell sarcomas
The Journal of Pathology, EarlyView.Abstract Interdigitating dendritic cell sarcomas (IDCSs) are rare tumors that commonly arise in the hematopoietic system and rarely outside. The genetic drivers of IDCS carcinogenesis are unknown; therefore, therapeutic options are limited. We investigated somatic gene mutations and copy‐number alterations (CNAs) in nine IDCSs arising in the lung by ...
Mikhail S Ermakov +6 more
wiley +1 more source
Neurofibromatosis type 1-associated tumours: Their somatic mutational spectrum and pathogenesis
Human Genomics, 2011 Somatic gene mutations constitute key events in the malignant transformation of human cells. Somatic mutation can either actively speed up the growth of tumour cells or relax the growth constraints normally imposed upon them, thereby conferring a ...
Spyk Sebastian +3 more
doaj +1 more source
Histiocytosis development and clinical variation through the lens of genomics
The Journal of Pathology, EarlyView.Abstract Histiocytic neoplasms are rare haematologic diseases characterised by clonal expansions of cells with a monocyte, macrophage or dendritic cell phenotype. Their clinical manifestations are diverse, ranging from indolent lesions to aggressive systemic disease.
Paul G Kemps +3 more
wiley +1 more source
Multi‐level fatigue reliability assessment of reinforced concrete railway bridges
Structural Concrete, EarlyView.Abstract This paper presents a multi‐level reliability framework for assessing the fatigue life of reinforced concrete (RC) railway trough bridges subjected to cyclic loading. The framework incorporates increasing levels of analytical complexity and real‐world data in four steps. First, an analytical model applies S–N curves and the Palmgren–Miner rule
Silvia Sarmiento +7 more
wiley +1 more source
Bone ResearchNeurofibromatosis type 1 (NF1) is a genetic disorder affecting 1 in 3 000 people due to heterozygous mutations in the NF1 gene. Patients with NF1 can develop multiple symptoms, such as neurofibromas, skin hyperpigmentation, and bone abnormalities ...
Franceska Kovaci +7 more
doaj +1 more source