Results 51 to 60 of about 22,402 (163)
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
Tumor mutational burden as a determinant of metastatic dissemination patterns
Molecular Oncology, Volume 20, Issue 5, Page 1364-1378, May 2026.This study performed a comprehensive analysis of genomic data to elucidate whether metastasis in certain organs share genetic characteristics regardless of cancer type. No robust mutational patterns were identified across different metastatic locations and cancer types.
Eduardo Candeal +4 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
core
Delivery of Pleckstrin‐Homology Domains Suppresses PI3K/Akt Signaling and Breast Cancer Metastasis
Advanced Science, Volume 13, Issue 30, 28 May 2026.Current therapies curb tumor growth but not metastasis. Obscurin, a giant metastasis suppressor lost in breast cancer, restrains PI3K/Akt signaling but is impractical to restore. We deploy a mini‐obscurin, comprising the obscurin‐PH‐domain, which sequesters PI3K‐p85, potently suppressing invasion and metastasis.
Matthew Eason +12 more
wiley +1 more source
Diagnostic Pathology, 2023 Background Neurofibromatosis type 1 (NF1) is known to be associated with the frequent occurrence of unique gastrointestinal stromal tumors (GISTs), preferably occurring in the small intestine, with no mutations in the c-kit proto-oncogene or platelet ...
Hideki Nagano +6 more
doaj +1 more source
Clinical Case Reports, Volume 14, Issue 5, May 2026.ABSTRACT Lentigines, café‐au‐lait macules (CALMs), and vitiligo are pigmentary disorders that seldom occur together in a single individual. Their co‐occurrence may indicate underlying genetic syndromes requiring differential diagnosis. We report an 18‐year‐old male who developed CALMs at age 11, agminated lentigines at age 13, and vitiligo on the right
Xinxin Lei, Bo Xie
wiley +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
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
Neuropathology and Applied Neurobiology, Volume 52, Issue 2, April 2026.MR‐guided laser interstitial thermal therapy (LITT) offers a minimally invasive option for recurrent glioblastoma, but human post‐treatment tissue data are scarce. In this case report, post‐LITT tissue exhibited distinct zonal changes, including central necrosis within the ablation zone and reduced tumour proliferation with increased CD8+ T‐cell ...
Silas Haahr Nielsen +8 more
wiley +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