Results 91 to 100 of about 10,344 (220)
Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome
Global Medical Genetics, 2020 Marfan syndrome is an autosomal dominant disease affecting connective tissue involving the ocular, skeletal systems with a prevalence of 1/5,000 to 1/10,000 cases.
Sinem Yalcintepe +5 more
doaj +1 more source
CNS Neuroscience &Therapeutics, Volume 32, Issue 6, June 2026.A subset of endothelial cells in the AC region promoted neovascularization, while the PA region exhibited an increase in osteogenic VSMCs, contributing to vascular remodeling. Fibroblast‐mediated inflammatory regulation was predominantly enriched in the PA region, whereas the AC region harbored more macrophage subsets involved in lipid metabolism and ...
Xuejiao Dai +7 more
wiley +1 more source
Clinical and Translational Discovery, Volume 6, Issue 3, June 2026.•Single‐cell/spatial multi‐omics identify four VSMC phenotypic states in TAA progression. •KLF4 as master hub (TGF‐β/TNF‐α/mechanical stress) orchestrating chromatin remodelling. •Pseudotime trajectories mapping contractile phenotypes towards osteogenic (RUNX2/SOX9) and inflammatory (TNF‐α/IL‐6) fates within spatial medial niches. •cfDNA biomarkers and
Zehua Shao +6 more
wiley +1 more source
Molecular Genetics & Genomic Medicine, 2019 Background Geleophysic dysplasia (GPHYSD) is a disorder characterized by dysmorphic features, stiff joints and cardiac involvement due to defects of TGF‐β signaling. GPHYSD can be caused by mutations in FBN1, ADAMTLS2, and LTBP3 genes.
Pasquale Piccolo +7 more
doaj +1 more source
Datasets of genes coexpressed with FBN1 in mouse adipose tissue and during human adipogenesis
Data in Brief, 2016 This article contains data related to the research article entitled “Expression of FBN1 during adipogenesis: relevance to the lipodystrophy phenotype in Marfan syndrome and related conditions” [1].
Margaret R. Davis +6 more
doaj +1 more source
Advanced Genetics, Volume 7, Issue 2, June 2026.This review highlights six genetic diseases of the bone, aiming to provide clinicians and researchers with updated information on their diagnosis and treatment. It also includes an assessment of common clinical and radiographic findings, along with pathophysiology related to diseases.
Colin Jones, Ambalangodage C. Jayasuriya
wiley +1 more source
, 2016 Background: The studies on heart rate variability (HRV), a key predictor of all-cause mortality, in Marfan syndrome (MS), up to now have not been reported, especially in patients with FBN1 mutations. Methods: Among 18 MS patients with the phenotype of MS
Zhuraev, Rustam; Lviv National Medical University +1 more
core +1 more source
Journal of Orthopaedic Research, Volume 44, Issue 6, June 2026.ABSTRACT Tendons withstand large forces due to an aligned, dense collagen matrix. However, their low cellularity and relative inability to recruit reparative cells post‐injury, coupled with a susceptibility to excessive scarring results in loss of tendon structure and function. Type III collagen (COL3) plays a key role in regulating matrix architecture
J. A. Carlson +4 more
wiley +1 more source
Journal of Cosmetic Dermatology, Volume 25, Issue 6, June 2026.ABSTRACT Skin boosters are increasingly used to improve dermal quality through injectable and device‐assisted approaches; however, definitions and clinical evidence remain heterogeneous. Aims To provide an updated overview and propose a practical classification of skin boosters, including mechanisms, delivery methods, clinical outcomes, and limitations.
Kyu‐ho Yi +7 more
wiley +1 more source
Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome [PDF]
, 2012 Contains fulltext : 108198.pdf (Publisher’s version ) (Open Access)PURPOSE: To describe a novel mutation in the fibrillin-1 (FBN1) gene in a large Pakistani family with autosomal dominant Marfan syndrome (MFS).
Maugeri, A. +8 more
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