Results 11 to 20 of about 16,386 (154)

Additional file 2 of Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1

, 2023
Supplementary Material ...
Yang, Lisha, Fu, Jiewen, Cheng, Jingliang, Zhou, Baixu, Chen, Maomei, Anuchapreeda, Songyot, Fu, Junjiang   +6 more
openaire   +1 more source

TYK2 promotes malignant peripheral nerve sheath tumor progression through inhibition of cell death [PDF]

, 2019
BACKGROUND: Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive sarcomas that arise most commonly in the setting of the Neurofibromatosis Type 1 (NF1) cancer predisposition syndrome.
Bu, Xianzhang, Godec, Abigail, Hirbe, Angela C, Qin, Wenjing, Shao, Jieya, Tao, Yu, Zhang, Xiaochun, Zhu, Cuige   +7 more
core   +2 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

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

Tumores de Sistema Nervioso asociados con la Neurofibromatosis tipo 1 y 2

Revista Clínica de la Escuela de Medicina UCR-HSJD, 2018
La Neurofibromatosis, hoy entendida como un concepto abarcando dos tipos de enfermedades diferentes (tipo 1 y tipo 2) es una enfermedad genética perteneciente al  grupo de patologías neurocutáneas, inicialmente descrita en 1849 y que aún en la ...
Carlos Mario Sequeira Quesada, Daniel Andrés Casares Fallas   +1 more
doaj   +1 more source

Molecular Genetics of Intracranial Meningiomas with Emphasis on Canonical Wnt Signalling. [PDF]

, 2016
Research over the last decade recognized the importance of novel molecular pathways in pathogenesis of intracranial meningiomas. In this review, we focus on human brain tumours meningiomas and the involvement of Wnt signalling pathway genes and proteins ...
Kafka, Anja, Lechpammer, Mirna, Pećina-Šlaus, Nives   +2 more
core   +2 more sources

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

Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the NF1 Gene and a Mutation in NR5A1

Pharmacogenomics and Personalized Medicine, 2022
Lina Perafan-Valdes,1,2 Sebastian Giraldo-Ocampo,3 Juliana Lores,2 Harry Pachajoa2,4 1Universidad Libre, Programa de Maestría en Epidemiología, Cali, Colombia; 2Fundación Valle del Lili, Genetics Division, Cali, Colombia; 3Universidad del Valle ...
Perafan-Valdes L, Giraldo-Ocampo S, Lores J, Pachajoa H   +3 more
doaj  

Rasopathies case report: concurrence of two pathogenic variations de novo in NF1 and KRAS genes in a patient

BMC Pediatrics, 2019
Background Rasopathies are a group of genetic malformative syndromes including neurofibromatosis 1, Noonan, LEOPARD, Costello, cardio-facio-cutaneous, Legius, and capillary malformation-arteriovenous malformation syndromes. Case presentation We present a
Irene Baquedano Lobera, Silvia Izquierdo Álvarez, María Jesús Oliván del Cacho   +2 more
doaj   +1 more source

The paradox of cancer genes in non-malignant conditions: implications for precision medicine. [PDF]

, 2020
Next-generation sequencing has enabled patient selection for targeted drugs, some of which have shown remarkable efficacy in cancers that have the cognate molecular signatures.
Adashek, Jacob J, Kato, Shumei, Kurzrock, Razelle, Lippman, Scott M   +3 more
core