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A patient with a PTPN11 gene variant complicated with Chiari I malformation and syringomyelia and a review of literatures.
Int J Dev Neurosci
February 2025
Department of Pediatric Neurology, The Affiliated Hospital of Qingdao University, Qingdao, Shandong, China.
Article Synopsis
- PTPN11 gene variants are linked to around 50% of Noonan syndrome and 85% of Leopard syndrome cases, with some patients showing associations with Chiari I malformation (CIM) and syringomyelia, though the nature of this relationship is debated.
- A clinical case was analyzed along with a genetic test on the patient and her family, revealing a specific PTPN11 variant (c. 922A>G) and leading to discussions about the possible connections between these conditions.
- The retrospective review identified six patients with NS or LS and a PTPN11 variant who also exhibited CIM or syringomyelia, highlighting a potential pattern that warrants further investigation.
Atypical Multifocal Granular Cell Tumor with FLT3 Y842C Somatic Mutation: A case report and a review of the literature.
Tunis Med
October 2024
Washington DC VA Medical Center, Department of Pathology, 20422, Washington, DC, USA.
Introduction: Granular cell tumors (GCT) are predominantly benign neoplasms composed by cells with abundant eosinophilic granular cytoplasm. Although the majority of GCTs exhibit a benign clinical course, a minority display cytological atypia and may exhibit aggressive, cancer-like behavior. Definitive evidence of malignancy in GCTs is reliably established only through the presence of metastasis.
View Article and Find Full Text PDFCase report: MEK inhibitor as treatment for multi-lineage mosaic KRAS G12D-associated epidermal nevus syndrome in a pediatric patient.
Front Neurol
September 2024
Division of Pediatric Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, United States.
Article Synopsis
- The RASopathies are a group of genetic syndromes caused by mutations in the RAS/MAPK signaling pathway, affecting conditions like neurofibromatosis type 1, Noonan syndrome, and others, often leading to similar symptoms due to abnormal cell growth.
- Epidermal nevus syndromes are characterized by skin nevi alongside other systemic issues, with recent findings indicating that mosaic RAS mutations may contribute to these conditions.
- A case study details a child's treatment with the MEK inhibitor selumetinib, demonstrating stabilization of nerve hypertrophy and improvement of skin lesions, highlighting the potential for targeted therapies beyond currently established uses for RASopathy-related symptoms.
LEOPARD syndrome with PTPN11 gene mutation in monozygotic twins: A case description and literature review.
ESC Heart Fail
August 2024
Department of Magnetic Resonance Imaging, Fuwai Hospital and National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Age-related retinal degeneration resulting from the deletion of Shp2 tyrosine phosphatase in photoreceptor neurons.
Cell Death Dis
August 2024
Department of Ophthalmology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104, USA.
Article Synopsis
- Shp2 is a vital protein that regulates cellular functions and is linked to several health issues, including obesity and cancer.
- This research highlights Shp2's significant presence in rod photoreceptor cells and demonstrates that its absence leads to age-related degeneration of these cells.
- The study identifies that Shp2 influences the expression of occludin, a key protein for cell junctions, and affects cell cycle regulation and retinal metabolism when deleted in rod cells.
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