Results 21 to 30 of about 34,178 (233)

The haploinsufficient hematopoietic microenvironment is critical to the pathological fracture repair in murine models of neurofibromatosis type 1. [PDF]

PLoS ONE, 2011
Germline mutations in the NF1 tumor suppressor gene cause neurofibromatosis type 1 (NF1), a complex genetic disorder with a high predisposition of numerous skeletal dysplasias including short stature, osteoporosis, kyphoscoliosis, and fracture non-union (
Xiaohua Wu, Shi Chen, Yongzheng He, Steven D Rhodes, Khalid S Mohammad, Xiaohong Li, Xianlin Yang, Li Jiang, Grzegorz Nalepa, Paige Snider, Alexander G Robling, D Wade Clapp, Simon J Conway, Theresa A Guise, Feng-Chun Yang   +14 more
doaj   +1 more source

Telomere erosion in NF1 tumorigenesis [PDF]

Oncotarget, 2017
Neurofibromatosis type 1 (NF1; MIM# 162200) is a familial cancer syndrome that affects 1 in 3,500 individuals worldwide and is inherited in an autosomal dominant fashion. Malignant Peripheral Nerve Sheath Tumors (MPNSTs) represent a significant cause of morbidity and mortality in NF1 and currently there is no treatment or definite prognostic biomarkers
Robinson, Rhiannon, Grimstead, Julia, Sedani, Ashni, Baird, Duncan, Upadhyaya, Meena   +4 more
openaire   +3 more sources

Historical Development of Diagnostic Criteria for NF2-related Schwannomatosis

Neurologia Medico-Chirurgica
NF2-related schwannomatosis (NF2; previously termed neurofibromatosis type 2) is a tumor-prone disorder characterized by development of multiple schwannomas and meningiomas. The diagnostic criteria of NF2 have been regularly revised.
Ryota TAMURA, Masahiro YO, Masahiro TODA
doaj   +1 more source

A novel NF1 frame-shift mutation c.703_704delTA in a Chinese pedigree with neurofibromatosis type 1 [PDF]

International Journal of Ophthalmology, 2018
We analyzed the clinical features and NF1 gene mutation in a Chinese pedigree of neurofibromatosis type 1 (NF1). Three members of this family were NF1 patients presenting with different clinical phenotypes and the others were asymptomatic.
Jun Chen, Bo Guo, Min Ren, Hong Lin, Xin Zhang, Si-Yi Chen, Xiao-Tian Yu, Zhu-Ping Xu   +7 more
doaj   +1 more source

Cerebellum-dependent associative learning is not impaired in a mouse model of neurofibromatosis type 1

Scientific Reports, 2022
Individuals with Neurofibromatosis type 1 (NF1) experience a high degree of motor problems. The cerebellum plays a pivotal role in motor functioning and the NF1 gene is highly expressed in cerebellar Purkinje cells.
M. J. Ottenhoff, S. Dijkhuizen, A. C. H. Ypelaar, N. L. de Oude, S. K. E. Koekkoek, S. S.-H. Wang, C. I. De Zeeuw, Y. Elgersma, H. J. Boele   +8 more
doaj   +1 more source

NF1 mutations in conjunctival melanoma [PDF]

British Journal of Cancer, 2018
Conjunctival melanoma is a potentially deadly eye tumour. Despite effective local therapies, tumour recurrence and metastasis remain frequent. The genetics of conjunctival melanomas remain incompletely understood.A large cohort of 63 conjunctival melanomas was screened for gene mutations known to be important in other melanoma subtypes by targeted next-
Scholz, S.L., Cosgarea, I., Süßkind, D., Murali, R., Möller, I., Reis, Henning, Leonardelli, S., Schilling, Bastian, Schimming, T., Hadaschik, Eva, Franklin, Cindy, Paschen, Annette, Sucker, A., Steuhl, Klaus-Peter, Schadendorf, Dirk, Westekemper, Henrike, Griewank, Klaus   +16 more
openaire   +4 more sources

Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients

Orphanet Journal of Rare Diseases, 2019
Background Congenital pseudarthrosis of the tibia (CPT) is a rare disease. Some patients present neurofibromatosis type 1 (NF1), while some others do not manifest NF1 (non-NF1). The etiology of CPT, particularly non-NF1 CPT, is not well understood.
Guanghui Zhu, Yu Zheng, Yaoxi Liu, An Yan, Zhengmao Hu, Yongjia Yang, Shiting Xiang, Liping Li, Weijian Chen, Yu Peng, Nanbert Zhong, Haibo Mei   +11 more
doaj   +1 more source

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Neurofibromatosis Type 1 in Ecuador: genotype-phenotype correlations from a case series

Medwave
Introduction Neurofibromatosis type 1 (NF1) is a multisystemic genetic disorder caused by pathogenic variants in the gene, characterized by variable clinical manifestations such as pigmentary abnormalities, neurofibromas, skeletal dysplasia, and tumor ...
Elius Paz-Cruz, Patricia Guevara-Ramirez, Arianne Llamos Paneque, Emily Onofre, Christian Rivas Iglesias, Santiago Cadena-Ullauri, Rafael Tamayo-Trujillo, Viviana A. Ruiz-Pozo, Daniel Simancas-Racines, Ana Karina Zambrano   +9 more
doaj   +1 more source

SOX5 Orchestrates Malignant Evolution via Promoter‐Centric Chromatin Remodeling in MYC‐Driven B‐Cell Lymphoma

Advanced Science, EarlyView.
In MYC‐enforced B‐cell lymphoma, SOX5 occupies promoter‐proximal regulatory regions and is associated with reduced chromatin accessibility at the PCNP locus. PCNP repression promotes proliferative remodeling by limiting apoptosis and cell‐cycle restraint.
Yiyou Mao, Zhenyuan Jia, Xiao‐Qin Mu, Ruilin Wang, Jianli Ma, Qingyuan Zhang, Yuwei Deng   +6 more
wiley   +1 more source