Results 61 to 70 of about 30,010,976 (156)
Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare NF1: c.5392C>T Mutation
Balkan Journal of Medical Genetics, 2022 Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome caused by mutations on the NF1 gene, which is located at chromosome 17q11.2. Although an autosomal dominant inheritance pattern is well-established, about half of new cases are the result of de ...
Sayın Kocakap DB +3 more
doaj +1 more source
Brain Pathology, Volume 36, Issue 5, September 2026.We report the clinical and genetic features of an institutional cohort of primary adult gliosarcomas compared to glioblastoma. We performed spatial whole‐transcriptome analysis on glial and sarcomatous regions of four cases to compare gene expression profiles and validated differential protein expression for two markers in tissue sections.
Matthew D. Wood +6 more
wiley +1 more source
Post-Transcriptional Regulation of Neurofibromin Level in Cultured Human Melanocytes in Response to Growth Factors [PDF]
, 1997 Among the symptoms that characterize neurofibromatosis type 1 (NF1) are pigmentation anomalies such as café au lait spots. It has been suggested that the reduction of the neurofibromin level in the epidermis of NF1 patients is responsible for the ...
Mailhammer, Reinhard +5 more
core +1 more source
Psoriasis vulgaris occurring in a known case of neurofibromatosis type I: A rare association
Journal of Dr. NTR University of Health Sciences, 2016 Neurofibromatosis type 1 (NF-1) is an autosomal dominantly inherited neurocutaneous disorder due to mutations in the neurofibromin (NF) gene that encodes protein NF. NF regulates signal transduction by inactivating RAS proteins.
Konakanchi Venkata Chalam +3 more
doaj +1 more source
The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics
Clinical Genetics, Volume 110, Issue 3, Page 389-401, September 2026.The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree +18 more
wiley +1 more source
Clonal lineage of high grade serous ovarian cancer in a patient with neurofibromatosis type 1
Gynecologic Oncology Reports, 2018 Neurofibromatosis type 1 (NF1) is caused by mutations in the NF1 gene encoding neurofibromin, which negatively regulates Ras signaling. NF1 patients have an increased risk of developing early onset breast cancer, however, the association between NF1 and ...
Eric J. Norris +11 more
doaj +1 more source
Journal of Translational Medicine, 2023 Background Gallbladder cancer (GBC) is the most prevalent and invasive biliary tract malignancy. As a GTPase-activating protein, Neurofibromin 1 (NF1) is a tumor suppressor that negatively regulates the RAS signaling pathway, and its abnormality leads to
Lingxiao Zhang +9 more
doaj +1 more source
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
A haploinsufficiency restoration strategy corrects neurobehavioral deficits in Nf1+/– mice
The Journal of Clinical InvestigationNeurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations of the NF1 tumor suppressor gene resulting in the loss of function of neurofibromin, a GTPase-activating protein (GAP) for Ras.
Su Jung Park +18 more
doaj +1 more source