Neurofibromin Regulated Signaling Pathways in Endochondral Ossification [PDF]
, 2015 Neurofibromatosis type 1 (NF1) is the most common autosomal dominant genetic disorder occurring in 1 of every 3500 live births. NF1 is caused by loss-of-function mutations in NF1, the gene encoding the Ras-GAP neurofibromin.
Karolak, Matthew Ross
core
Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia – a first case report
BMC Pediatrics, 2023 Background Neurofibromatosis type 1 and pseudoachondroplasia are both rare autosomal dominant disorders, caused by pathogenic mutations in NF1 and COMP genes, respectively.
Sára Pálla +11 more
doaj +1 more source
The Interferon Consensus Sequence-binding Protein Activates Transcription of the Gene Encoding Neurofibromin 1 [PDF]
Journal of Biological Chemistry, 2004 Deficiency of the interferon consensus sequence-binding protein (ICSBP) is associated with increased myeloid cell proliferation in response to hematopoietic cytokines. However, previously identified ICSBP target genes do not indicate a mechanism for this "cytokine hypersensitivity." In these studies, we identify the gene encoding neurofibromin 1 (Nf1 ...
Chunliu, Zhu +4 more
openaire +2 more sources
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1934-1941, August 2026.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
The kinetic mechanism of the interaction of p21ras with neurofibromin [PDF]
, 1997 This project involved examining the mechanism of interaction of the 21kDa guanine nucleotide binding protein, N-ras, with the catalytic domain of the GTPase-activating protein, neurofibromin.
Jenkins, Tracy
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Upregulation of Tumor Suppressor Protein Neurofibromin in Normal Human Wound Healing and In Vitro Evidence for Platelet Derived Growth Factor (PDGF) and Transforming Growth Factor-β1 (TGF-β1) Elicited Increase in Neurofibromin mRNA Steady-State Levels in Dermal Fibroblasts [PDF]
, 1998 We first studied expression of neurofibromin by immunohistochemistry in scars obtained from operations involving areas of healing wounds. The results demonstrated increased immunoreactivity for neurofibromin in the fibroblastic cell population of the ...
Lakkakorpi, Jouni +7 more
core +1 more source
Behavioral and Sleep Disorders in Neurofibromatosis
Pediatric Neurology Briefs, 2005 The behavior and sleep patterns of 64 children (mean age 10 years 7 months) with neurofibromatosis type 1 (NF1) were determined by mail and telephone questionnaire in a study at Park Hospital, University of Oxford, UK.
J Gordon Millichap
doaj +1 more source
Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning [PDF]
Human Molecular Genetics, 2015 Neurofibromatosis type 1 (NF1) is a common autosomal dominant neurologic condition characterized by significant clinical heterogeneity, ranging from malignant cancers to cognitive deficits. Recent studies have begun to reveal rare genotype-phenotype correlations, suggesting that the specific germline NF1 gene mutation may be one factor underlying ...
Corina, Anastasaki +3 more
openaire +2 more sources
Genes, Chromosomes and Cancer, Volume 65, Issue 8, August 2026.ABSTRACT Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft tissue sarcomas and the most common cause of disease‐associated death for neurofibromatosis type 1 (NF1) patients. In the context of NF1, MPNSTs develop from benign premalignant precursors and the transition to malignancy is typically accompanied by loss of the polycomb ...
Madilyn R. Stahl +4 more
wiley +1 more source
Neurofibromin regulates somatic growth through the hypothalamic-pituitary axis [PDF]
, 2008 To study the role of the neurofibromatosis-1 (NF1) gene in mammalian brain development, we recently generated mice in which Nf1 gene inactivation occurs in neuroglial progenitor cells using the brain lipid binding protein (BLBP) promoter.
Hegedűs, Balázs +4 more
core +1 more source