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Molecular 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 PDFA Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of .
Int J Mol Sci
September 2024
Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju 54907, Republic of Korea.
Maturity-onset diabetes of the young (MODY; OMIM # 606391) comprises a cluster of inherited disorders within non-autoimmune diabetes mellitus (DM), typically emerging during adolescence or young adulthood. We report a novel in-frame deletion of in a family with renal cysts and MODY, furthering our understanding of -related phenotypes. We conducted sequential genetic testing to investigate the glucose intolerance, renal cysts, hepatic cysts, and agenesis of the dorsal pancreas observed in the proband.
View Article and Find Full Text PDFWolfram Syndrome 1: A Neuropsychiatric Perspective on a Rare Disease.
Genes (Basel)
July 2024
Department of Human Pathology of Adulthood and Childhood G. Barresi, University of Messina, 98125 Messina, Italy.
Article Synopsis
- * The disorder is caused by mutations in a gene on chromosome 4p16, which produces a protein called wolframin, crucial for cellular functions related to insulin signaling and stress response.
- * Currently, there are no specific treatments for WS1; however, early diagnosis and genetic counseling can help manage symptoms and extend care to affected families, highlighting the need for ongoing research to find new therapies.
Monogenic Diabetes: A Comprehensive Overview and Therapeutic Management of Subtypes of Mody.
Endocr Res
February 2025
Amity Institute of Pharmacy, Amity University, Noida, India.
Background: Monogenic diabetes often occurs as a result of single-gene mutations. The illness is minimally affected by environmental and behavioral factors, and it constitutes around one to five percent of all cases of diabetes.
Methods: Newborn diabetes mellitus (NDM) and maturity-onset diabetes of the young (MODY) are the predominant causes of monogenic diabetes, accounting for a larger proportion of cases, while syndromic diabetes represents a smaller percentage.
A Novel TSHR Gene Mutation in a Family with Non-autoimmune Hyperthyroidism.
Med Arch
April 2024
Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead, University of Sydney, Australia.
Background: Familial non-autoimmune hyperthyroidism is a rare disorder characterized by the absence of thyroid autoimmunity, particularly TSH receptor antibody [TRAb].
Objective: The aim of this study was to describe a novel TSHR mutation identified in a family of two siblings and their father.
Methods: Two siblings presented for endocrine assessment at ages 7 and 14 years with mild T3 toxicosis, and the father presented at 30 years of age with non-autoimmune thyrotoxicosis.
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