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Developing a pipeline for identification, characterization and molecular editing of -regulatory elements: a case study in potato.
aBIOTECH
March 2025
Department of Biological Science, College of Life Sciences, Sichuan Normal University, Chengdu, 610101 China.
Crop breeding requires a balance of tradeoffs among key agronomic traits caused by gene pleiotropy. The molecular manipulation of genes can effectively improve target traits, but this may not reduce gene pleiotropy, potentially leading to undesirable traits or even lethal conditions. However, molecular editing of -regulatory elements (CREs) of target genes may facilitate the dissection of gene pleiotropy to fine-tune gene expression.
View Article and Find Full Text PDFIntersection of two rare conditions: Clinical reflection on tuberous sclerosis combined with primary lymphedema.
World J Clin Cases
March 2025
Department of Neurology, Children's Hospital of Nanjing Medical University, Nanjing 210008, Jiangsu Province, China.
This editorial discusses a case report recently published in the . The report describes the clinical presentation, imaging, diagnosis, and treatment of a patient with tuberous sclerosis complex (TSC) combined with primary lymphedema (PLE). Additionally, it retrospectively analyzes the data of 16 previously reported cases of children with TSC combined with PLE to summarize the epidemiology, genetic diagnosis, and current main treatments of these patients.
View Article and Find Full Text PDFClival Chordoma Presenting as Airway Obstruction in a Neonate With Tuberous Sclerosis and Good Response to sirolimus.
Pediatr Blood Cancer
March 2025
Department of Radiodiagnosis and Interventional Radiology, All India Institute of Medical Sciences, Delhi, India.
We report the case of a 50-day-old infant with a nasopharyngeal mass causing respiratory distress at birth. Imaging revealed a mass from the clivus and features indicative of tuberous sclerosis complex (TSC), including cortical tubers and subependymal nodules. The mass was surgically excised, with histopathology confirming chordoma.
View Article and Find Full Text PDFSurgical treatment of subependymal giant cell astrocytoma in patients with tuberous sclerosis complex-an institutional experience and results.
Childs Nerv Syst
March 2025
Department of Neurosurgery, Oslo University Hospital-Rikshospitalet, Oslo, Norway.
Objective: Subependymal giant cell astrocytomas (SEGA) are present in patients with tuberous sclerosis complex (TSC), occasionally requiring surgical removal. The study aimed to analyze the results from our series of children undergoing surgery for SEGA.
Methods: We retrospectively identified children with TSC undergoing resection of SEGA at Oslo University Hospital between 1982 and 2016.
A novel TSC2 variant cosegregating with TSC in the family: A case report.
Medicine (Baltimore)
February 2025
Department of Environmental and Occupational Health, School of Public Health, Guangdong Medical University, Dongguan, China.
Rationale: Tuberous sclerosis complex is a multisystem genetic disorder caused by variant of TSC1 or TSC2, which were defined as an independent diagnostic criterion for TSC.
Patient Concerns: We present a novel hereditary variant in a family. The family showed a phenomenon of familial aggregation in the Tuberous sclerosis complex.
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