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Mutations affecting mRNA splicing are the most common molecular defects in pati…

Ars(E),Serra(E),García(J),Kruyer(H),Gaona(A)… Hum Mol Genet 2000-02-28

...NF1) is one of the most common inherited disorders in humans and is caused by mutations in the NF1 gene. To date, the ma...

A mouse embryonic stem cell model of Schwann cell differentiation for studies o…

Roth(Therese M),Ramamurthy(Poornapriya),Ebis… Glia 2007-09-18

...NF1) gene functions as a tumor suppressor gene. One known function of neurofibromin, the NF1 protein product, is to acce...

Neurofibromin plays a critical role in modulating osteoblast differentiation of…

Wu(Xiaohua),Estwick(Selina A),Chen(Shi),Yu(M… Hum Mol Genet 2006-11-08

...NF1 are poorly understood. In the present study, utilizing Nf1 haploinsufficient (+/-) mice, we demonstrate that Nf1+/- ...

Neurofibromatosis-1 gene deletions and mutations in de novo adult acute myeloid…

Boudry-Labis(Elise),Roche-Lestienne(Catherin… Am J Hematol 2013-05-10

...NF1 in 20 patients including five NF1-deleted patients. We defined a small ∼0.3 Mb minimal deleted region involving NF1 ...

Neurofibromatosis type 1 alternative splicing is a key regulator of Ras signali…

Hinman(Melissa N),Sharma(Alok),Luo(Guangbin)… Mol Cell Biol 2014-09-29

...Nf1 23aIN/23aIN ES cells, where the Nf1 exon 23a inclusion level is high, and low in Nf1 23aΔ/23aΔ cells. Upon neuronal ...

Sensory neurons from Nf1 haploinsufficient mice exhibit increased excitability.

Wang(Yue),Nicol(G D),Clapp(D Wade),Hingtgen(… J Neurophysiol 2006-01-25

...NF1) is a common genetic disorder characterized by tumor formation. People with NF1 also can experience more intense pai...

Genetic inhibition of Anaplastic Lymphoma Kinase rescues cognitive impairments …

Weiss(JB),Weber(SJ),Torres(ERS),Marzulla(T),… Behav Brain Res 2017-00-15

...NF1 for both associative learning and sleep. Inhibition of Alk improves associative learning and sleep in heterozygous N...

Expression analysis of NF1-mutated alleles in a rare compound heterozygous spin…

Bettinaglio(P),Tritto(V),Paterra(R),Eoli(M),… Ann Hum Genet 2024-05-00

...NF1 alleles; nevertheless, patients with both NF1-mutated copies have been described. Interestingly, all NF1 variants ca...

Lower fasting blood glucose in neurofibromatosis type 1.

Martins(Aline Stangherlin),Jansen(Ann Kristi… Endocr Connect 2016-01-07

...NF1 and non-NF1 controls. We selected clinical records of 57 out of 701 individuals attending the Neurofibromatosis Outp...

Psychosocial functioning, self-image, and quality of life in children and adole…

Cipolletta(S),Spina(G),Spoto(A) Child Care Health Dev 2018-00-00

...NF1, 60 parents of children with NF1, 60 children and adolescents without NF1, and 60 parents of children without NF1. T...

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