[HTML][HTML] Neurofibromatosis 1
JM Friedman - 2022 - europepmc.org
Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait
macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability …
macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability …
Uncovering novel mutational signatures by de novo extraction with SigProfilerExtractor
Mutational signature analysis is commonly performed in cancer genomic studies. Here, we
present SigProfilerExtractor, an automated tool for de novo extraction of mutational …
present SigProfilerExtractor, an automated tool for de novo extraction of mutational …
Cutaneous neurofibromas in the genomics era: current understanding and open questions
Cutaneous neurofibromas (cNF) are a nearly ubiquitous symptom of neurofibromatosis type
1 (NF1), a disorder with a broad phenotypic spectrum caused by germline mutation of the …
1 (NF1), a disorder with a broad phenotypic spectrum caused by germline mutation of the …
Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development
Renal angiomyolipoma is a kidney tumor in the perivascular epithelioid (PEComa) family
that is common in patients with Tuberous Sclerosis Complex (TSC) and …
that is common in patients with Tuberous Sclerosis Complex (TSC) and …
[HTML][HTML] Immortalization of human normal and NF1 neurofibroma Schwann cells
Neurofibromas, which are benign Schwann cell tumors, are the hallmark feature in the
autosomal dominant condition neurofibromatosis 1 (NF1) and are associated with biallelic …
autosomal dominant condition neurofibromatosis 1 (NF1) and are associated with biallelic …
Recent advances in the diagnosis and pathogenesis of neurofibromatosis type 1 (NF1)-associated peripheral nervous system neoplasms
JF Longo, SM Weber, BP Turner-Ivey… - Advances in anatomic …, 2018 - journals.lww.com
The diagnosis of a neurofibroma or a malignant peripheral nerve sheath tumor (MPNST)
often raises the question of whether the patient has the genetic disorder neurofibromatosis …
often raises the question of whether the patient has the genetic disorder neurofibromatosis …
[HTML][HTML] Characterization of immune cell populations of cutaneous neurofibromas in neurofibromatosis 1
RA Kallionpää, S Peltonen, KM Le, E Martikkala… - Laboratory …, 2024 - Elsevier
Cutaneous neurofibromas (cNFs) are characteristic of neurofibromatosis 1 (NF1), yet their
immune microenvironment is incompletely known. A total of 61 cNFs from 10 patients with …
immune microenvironment is incompletely known. A total of 61 cNFs from 10 patients with …
NF1 patient missense variants predict a role for ATM in modifying neurofibroma initiation
In Neurofibromatosis type 1, NF1 gene mutations in Schwann cells (SC) drive benign
plexiform neurofibroma (PNF), and no additional SC changes explain patient-to-patient …
plexiform neurofibroma (PNF), and no additional SC changes explain patient-to-patient …
Computational insights of K1444N substitution in GAP-related domain of NF1 gene associated with neurofibromatosis type 1 disease: a molecular modeling and …
AK Agrahari, M Muskan, C George Priya Doss… - Metabolic Brain …, 2018 - Springer
The NF1 gene encodes for neurofibromin protein, which is ubiquitously expressed, but most
highly in the central nervous system. Non-synonymous SNPs (nsSNPs) in the NF1 gene …
highly in the central nervous system. Non-synonymous SNPs (nsSNPs) in the NF1 gene …
Contemporary Approach to Neurofibromatosis Type 1–Associated Malignant Peripheral Nerve Sheath Tumors
Most malignant peripheral nerve sheath tumors (MPNSTs) are clinically aggressive high-
grade sarcomas, arising in individuals with neurofibromatosis type 1 (NF1) at a significantly …
grade sarcomas, arising in individuals with neurofibromatosis type 1 (NF1) at a significantly …