Results 21 to 30 of about 24,332 (187)

Synchronous Periampullary Tumors in a Patient With Pancreas Divisum and Neurofibromatosis Type 1

Frontiers in Genetics, 2020
IntroductionIn this study, we describe for the first time a Neurofibromatosis type 1 patient with pancreas divisum, multiple periampullary tumors and germline pathogenic variants in NF1 and CFTR genes.Case reportA 62-year-old female NF1 patient presented
Cleandra Gregório, Cleandra Gregório, Clévia Rosset, Laura da Silva Alves, Cristina Brinkmann Oliveira Netto, Simone Marcia dos Santos Machado, Vivian Pierri Bersch, Vivian Pierri Bersch, Alessandro Bersch Osvaldt, Alessandro Bersch Osvaldt, Alessandro Bersch Osvaldt, Patricia Ashton-Prolla, Patricia Ashton-Prolla, Patricia Ashton-Prolla   +13 more
doaj   +1 more source

Gene signature associated with benign neurofibroma transformation to malignant peripheral nerve sheath tumors. [PDF]

PLoS ONE, 2017
Benign neurofibromas, the main phenotypic manifestations of the rare neurological disorder neurofibromatosis type 1, degenerate to malignant tumors associated to poor prognosis in about 10% of patients.
Marta Martínez, Carlos O S Sorzano, Alberto Pascual-Montano, Jose M Carazo   +3 more
doaj   +1 more source

Whole tumor RNA-sequencing and deconvolution reveal a clinically-prognostic PTEN/PI3K-regulated glioma transcriptional signature [PDF]

, 2017
The concept that solid tumors are maintained by a productive interplay between neoplastic and non-neoplastic elements has gained traction with the demonstration that stromal fibroblasts and immune system cells dictate cancer development and progression ...
Bush, Erin C, Gutmann, David H, Ma, Yu, Pan, Yuan, Sims, Peter A, Solga, Anne C, Toonen, Joseph A   +6 more
core   +2 more sources

Neurofibromatosis type 1 gene product (neurofibromin) associates with microtubules [PDF]

Somatic Cell and Molecular Genetics, 1993
The neurofibromatosis type 1 (NF1) gene was recently identified by positional cloning and found to encode a protein with structural and functional homology to mammalian and yeast GTPase-activating proteins (GAPs). Using antibodies directed against the NF1 gene product, a protein of approximately 250 kDa was identified and termed neurofibromin.
Gregory, Paula E., Gutmann, David H., Mitchell, Anna L., Park, Soochul, Boguski, Mark, Jacks, Tyler, Wood, Deborah L., Jove, Richard, Collins, Francis S.   +8 more
openaire   +3 more sources

Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]

, 2015
Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz, CONTESTABILE, Maria Teresa, FAMELI, VALERIA, Mollo, Roberto, Perdicchi, Andrea, RECUPERO, Santi Maria   +5 more
core   +3 more sources

Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene [PDF]

European Journal of Human Genetics, 2000
Segmental neurofibromatosis (NF) is generally thought to result from a postzygotic NF1 (neurofibromatosis type 1) gene mutation. However, this has not yet been demonstrated at the molecular level. Using fluorescence in situ hybridisation (FISH) we identified an NF1 microdeletion in a patient with segmental NF in whom café-au-lait spots and freckles are
S, Tinschert, I, Naumann, E, Stegmann, A, Buske, D, Kaufmann, G, Thiel, D E, Jenne   +6 more
openaire   +2 more sources

Multimodality Imaging Features of Breast Carcinoma in Women with Neurofibromatosis Type 1 (NF 1) – A Report of Two Cases [PDF]

Middle East Journal of Cancer, 2021
With a prevalence of approximately 1 out of 2,500 to 4,000 births, neurofibromatosis type 1 (NF1), also known as von Recklinghausen’s disease, is one of the most prevalent autosomal dominant diseases in humans.
Wai Chan, Marlina Tanty Ramli Hamid, Caroline Judy Westerhout, Tan Tze, Jayalakshmi Pailoor, Kartini Rahmat   +5 more
doaj   +1 more source

Graph complexity analysis identifies an ETV5 tumor-specific network in human and murine low-grade glioma [PDF]

, 2018
Conventional differential expression analyses have been successfully employed to identify genes whose levels change across experimental conditions.
Bush, Erin C, Duron, Christina, Gutmann, David H, Hardin, Johanna, Ma, Yu, Pan, Yuan, Radunskaya, Ami, Sims, Peter A   +7 more
core   +5 more sources

Genomic organization of the neurofibromatosis 1 gene (NF1)

Genomics, 1995
Neurofibromatosis 1 maps to chromosome band 17q11.2, and the NF1 locus has been partially characterized. Even though the full-length NF1 cDNA has been sequenced, the complete genomic structure of the NF1 gene has not been elucidated. The 5' end of NF1 is embedded in a CpG island containing a NotI restriction site, and the remainder of the gene lies in ...
Y, Li, P, O'Connell, H H, Breidenbach, R, Cawthon, J, Stevens, G, Xu, S, Neil, M, Robertson, R, White, D, Viskochil   +9 more
openaire   +2 more sources

Children with 5′-end NF1 gene mutations are more likely to have glioma [PDF]

, 2017
Objective:To ascertain the relationship between the germline NF1 gene mutation and glioma development in patients with neurofibromatosis type 1 (NF1).Methods:The relationship between the type and location of the germline NF1 mutation and the presence of ...
Anastasaki, Corina, Gao, Feng, Gutmann, David H, Morris, Stephanie M   +3 more
core   +2 more sources