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Background: Long QT Syndrome Type-2 (LQT2) is due to loss-of-function variants. encodes K 11.1 that forms a delayed-rectifier potassium channel in the brain and heart.
View Article and Find Full Text PDFFamilial adenomatous polyposis family with clustering of psychiatric disorders.
Jpn J Clin Oncol
January 2025
Department of Clinical Oncology, Graduate School of Medicine, Akita University, Hondo 1-1-1, Akita, 010-8543, Japan.
Familial adenomatous polyposis (FAP) is an inherited disorder that follows an autosomal dominant inheritance pattern and is caused by a germline pathogenic variant in the APC gene. FAP also has extracolonic manifestations, including osteomas, brain tumors, and congenital hypertrophy of the retinal pigmented epithelium. Desmoid tumor is a rare soft-tissue tumor often associated with FAP.
View Article and Find Full Text PDFMolecular and spatial analysis of tertiary lymphoid structures in Sjogren's syndrome.
Nat Commun
January 2025
Rheumatology Research Group, Department of Inflammation and Ageing, College of Medicine & Health, University of Birmingham, Birmingham, UK.
Tertiary lymphoid structures play important roles in autoimmune and non-autoimmune conditions. While many of the molecular mechanisms involved in tertiary lymphoid structure formation have been identified, the cellular sources and temporal and spatial relationship remain unknown. Here we use combine single-cell RNA-sequencing, spatial transcriptomics and proteomics of minor salivary glands of patients with Sjogren's disease and Sicca Syndrome, with ex-vivo functional studies to construct a cellular and spatial map of key components involved in the formation and function of tertiary lymphoid structures.
View Article and Find Full Text PDFOutcomes of Growth-Friendly Surgical Treatment of Early Onset Scoliosis in Children With Prune Belly Syndrome: A Preliminary Report.
J Pediatr Orthop
December 2024
Department of Orthopaedic Surgery, C.S. Mott Children's Hospital, Michigan Medicine, Ann Arbor, MI.
Background: Prune belly syndrome (PBS) is a rare condition characterized by absence of abdominal musculature, cryptorchidism, and obstructive uropathy. The most common orthopaedic problem is scoliosis, yet no reports on growth-friendly surgical treatment of early-onset scoliosis (EOS) exist. Our purpose was to evaluate outcomes of distraction-based implants in children with PBS.
View Article and Find Full Text PDFClinicopathological and molecular insights into odontogenic tumors associated with syndromes: A comprehensive review.
World J Exp Med
December 2024
Department of Diagnosis in Pathology and Oral Medicine, Faculty of Dentistry, Universidad de la República, Montevideo 1600, Uruguay.
The association between genetic syndromes and odontogenic tumors encompasses several entities, reflecting the intricate interplay between genetic factors and the development of these lesions. The present study aimed to comprehensively investigate the associations between genetic syndromes and odontogenic tumors. We delineated the diverse spectrum of syndromic connections, including key syndromes such as Gardner syndrome, Gorlin syndrome, Schimmelpenning syndrome, and others.
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