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Published in 2017 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.3155
Abstract: Neurofibromatosis type 1 (NF1, OMIM 162200), caused by NF1 gene mutations, exhibits multi‐system abnormalities, including skeletal deformities in humans. Osteocytes play critical roles in controlling bone modeling and remodeling. However, the role of neurofibromin, the…
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Keywords:
osteomalacia like;
like bone;
bone phenotype;
cko mice ... See more keywords
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Published in 2020 at "Experimental Neurology"
DOI: 10.1016/j.expneurol.2020.113373
Abstract: RATIONALE Neurofibromatosis type 1 (NF1) is associated with higher rates of epilepsy compared to the general population. Some NF1 patients with epilepsy do not have intracranial lesions, suggesting the genetic mutation itself may contribute to…
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Keywords:
model;
nf1;
type;
nf1 mice ... See more keywords
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Published in 2017 at "Journal of Human Genetics"
DOI: 10.1038/jhg.2017.78
Abstract: Neurofibromatosis type 1 (NF1) is an hereditary disorder characterized by abnormal proliferation of multiple tissues of neural crest origin, and presents mainly with multiple café-au-lait macules, axillary freckling and neurofibromas. Choroidal involvement in NF1 patients…
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Keywords:
makes difference;
absence makes;
choroidal abnormalities;
nf1 ... See more keywords
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3
Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-1726
Abstract: Loss of NF1 plays a major role as an oncogenic driver in up to 33% of all breast cancers (BC). Loss of NF1 is also a prognostic indicator for increased cancer risk at an earlier…
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Keywords:
nf1;
loss nf1;
loss;
model ... See more keywords
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Published in 2018 at "Journal of microbiology and biotechnology"
DOI: 10.4014/jmb.1709.09024
Abstract: Nanometric Lactobacillus plantarum nF1 (nLp-nF1) is a biogenics consisting of dead L. plantarum cells pretreated with heat and a nanodispersion process. In this study, we investigated the immune-enhancing effects of nLp-nF1 in vivo and in…
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Keywords:
nlp nf1;
nanometric lactobacillus;
plantarum nf1;
nf1 ... See more keywords
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Published in 2021 at "Annali di igiene : medicina preventiva e di comunita"
DOI: 10.7417/ct.2021.2314
Abstract: Abstract Neurofibromatosis type 1 (NF1) is a rare genetic disorder with an autosomal dominant transmission and an estimated incidence of 1:2500-3500 live birth. Penetrance is virtually 100%, but the expression is highly variable and almost…
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Keywords:
nf1;
neurofibromatosis type;
ectropion uveae;
uveae neurofibromatosis ... See more keywords