Results 31 to 40 of about 67,096 (237)

Neurofibromatosis Type 1 Vasculopathy Presenting as Branch Retinal Vein Occlusion: Case Report and Review of the Literature

open access: yesTürk Oftalmoloji Dergisi, 2023
Systemic vascular occlusive disease associated with neurofibromatosis type 1 (NF1) has been reported in the aortic, cerebral, renal, celiac, and mesenteric vessels and is referred to as NF1 vasculopathy.
Ece Özdemir Zeydanlı, Şengül Özdek
doaj   +1 more source

Gold(III)-pyrrolidinedithiocarbamato Derivatives as Antineoplastic Agents [PDF]

open access: yes, 2015
Transition metals offer many possibilities in developing potent chemotherapeutic agents. They are endowed with a variety of oxidation states, allowing for the selection of their coordination numbers and geometries via the choice of proper ligands ...
Brustolin, Leonardo   +7 more
core   +2 more sources

Somatic neurofibromatosis type 1 (NF1) inactivation characterizes NF1-associated pilocytic astrocytoma [PDF]

open access: yesGenome Research, 2012
Low-grade brain tumors (pilocytic astrocytomas) arising in the neurofibromatosis type 1 (NF1) inherited cancer predisposition syndrome are hypothesized to result from a combination of germline and acquired somaticNF1tumor suppressor gene mutations. However, genetically engineered mice (GEM) in which mono-allelic germlineNf1gene loss is coupled with bi ...
Gutmann, David H   +14 more
openaire   +3 more sources

Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum

open access: yesScientific Reports, 2021
Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant manner and is a rather common rare disease. Until recently, studies on gastrointestinal symptoms in patients with NF1 have been few and mostly described as case reports.
Cecilie Ejerskov   +6 more
doaj   +1 more source

Knowledge Spaces and the Completeness of Learning Strategies [PDF]

open access: yes, 2014
We propose a theory of learning aimed to formalize some ideas underlying Coquand's game semantics and Krivine's realizability of classical logic. We introduce a notion of knowledge state together with a new topology, capturing finite positive and ...
Berardi, Stefano, de'Liguoro, Ugo
core   +3 more sources

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

open access: yesPLoS 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   +14 more
doaj   +1 more source

Activation of MAPK signalling results in resistance to saracatinib (AZD0530) in ovarian cancer [PDF]

open access: yes, 2017
SRC tyrosine kinase is frequently overexpressed and activated in late-stage, poor prognosis ovarian tumours, and preclinical studies have supported the use of targeted SRC inhibitors in the treatment of this disease.
El-Helali, Aya   +6 more
core   +2 more sources

Neurofibromin is a novel regulator of Ras-induced reactive oxygen species production in mice and humans [PDF]

open access: yes, 2016
Neurofibromatosis type 1 (NF1) predisposes individuals to early and debilitating cardiovascular disease. Loss of function mutations in the NF1 tumor suppressor gene, which encodes the protein neurofibromin, leads to accelerated p21(Ras) activity and ...
Bessler, Waylan K.   +10 more
core   +1 more source

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

open access: yesScientific 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   +8 more
doaj   +1 more source

Emergence of scalar matter from spinfoam model [PDF]

open access: yes, 2009
A spinfoam model of 3D gravity non-minimally coupled with a scalar field is studied. By discretization of the scalar field, the model is worked out precisely in a purely combinational way.
Ma, Yongge, Xu, Peng
core   +1 more source

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