Results 141 to 150 of about 22,402 (163)

Cognitive and autism-like abnormalities are associated with gut microbiome alterations in a mouse model of Neurofibromatosis type I

Hannan A, Reisinger S, de Garde Nv, Kong G, Muhammad A, Lu D, Senthilkumar P, Kiridena P, Gubert C, Dabscheck G, Payne J.   +10 more
europepmc   +1 more source

Optic Nerve Glioma, Plexiform Neurofibroma, and Secondary Glaucoma in a Child With a Rare NF1 Variant (p.Gln83Ter): A Case Report. [PDF]

Cureus
Chaudhary K, Dubey S.
europepmc   +1 more source

Neurofibromatosis type 1: an illustrative case of cutaneous manifestations. [PDF]

Pan Afr Med J
Itankar PB, Sawarkar GR.
europepmc   +1 more source

Phosphorylation of neurofibromatosis type 1 gene product (neurofibromin) by cAMP-dependent protein kinase

FEBS Letters, 1996
The critical function of the neurofibromatosis type 1 NF1) gene product (neurofabromin) is not well defined except that neurofibromin has homology with a family of the GTPase-activating proteins (GAPs).
Ichiro Izawa, Hideyuki Saya
exaly   +2 more sources

Phosphorylation of neurofibromin by cAMP-dependent protein kinase is regulated via a cellular association ofNG,NG-dimethylarginine dimethylaminohydrolase

FEBS Letters, 2001
The neurofibromatosis type 1 (NF1) tumor suppressor (neurofibromin) is thought to play crucial roles in cellular Ras- and cAMP-dependent kinase (PKA)-associated signals.
Hiroshi Tokuo, Masumi Kimoto, Hideaki Tsuji   +2 more
exaly   +2 more sources

Neurofibromin: a general outlook

Clinical Genetics, 2006
Neurofibromin is a cytoplasmic protein that is predominantly expressed in neurons, Schwann cells, oligodendrocytes, astrocytes and leukocytes. It is encoded by the gene NF1, located on chromosome 17, at q11.2, and has different biochemical functions ...
Eloiza H Tajara
exaly   +2 more sources

A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1

Journal of Neurochemistry, 2015
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition caused by dominant loss-of-function mutations of the tumor suppressor gene NF1 that encodes neurofibromin, a negative regulator of RAS activity. Mutation analysis of NF1 located at
TERESA Esposito, Giulio Piluso, Dario Saracino   +2 more
exaly   +2 more sources