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GEORGE R. MARTIN: PIONEERING MATRIX BIOLOGIST.
Matrix Biol
January 2025
Centre for Rheumatology and Connective Tissue Disease, University College London (Royal Free Campus), London, UK, NW3 2PF.
Generation of two induced pluripotent stem cell lines from Loeys-Dietz syndrome patients carrying heterologous mutation of TGFBR1.
Stem Cell Res
January 2025
Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA. Electronic address:
Loeys-Dietz Syndrome (LDS) is a rare autosomal dominant connective tissue disorder characterized by vascular aneurysms, arterial dissections, and distinct craniofacial and skeletal anomalies. This study focuses on generating and characterizing two induced pluripotent stem cell (iPSC) lines derived from LDS patients with distinct mutations in the TGFBR1 gene. These two iPSC lines were found to display characteristic iPSC morphology, strong expression of pluripotency markers, typical karyotypes, and the capacity for differentiation into the three germ layers.
View Article and Find Full Text PDFFibular-Sided Avulsion of Posterior Inferior Tibiofibular Ligament-Patel-Sharma Fragment: A Case Report.
JBJS Case Connect
January 2025
Department of Orthopaedics, PGIMER, Chandigarh, India.
Case: A 30-year-old man presented with left proximal tibia fracture (open Grade 3A) and a transverse lateral malleolus fracture (Weber B) following direct impact injury. Computed tomography revealed a rare posteromedial tubercle fibula fracture at the posterior inferior tibiofibular ligament (PITFL) insertion, with syndesmosis disruption. Initial damage control included an external fixator.
View Article and Find Full Text PDFA Case of a Short Stature Patient With Marfan Syndrome: A Tale of Wide Mediastinum.
Cureus
December 2024
Internal Medicine, Icahn School of Medicine at Mount Sinai, Queens Hospital Center, New York, USA.
Marfan syndrome (MFS), an inherited connective tissue disorder, is caused by a mutation in the FBN1 gene. MFS is characterized by complex manifestations involving musculoskeletal, cardiovascular, and ocular systems. The usual presentation for suspecting diagnosis in an individual with aortic root disease is tall stature in addition to other features that fulfill Ghent criteria.
View Article and Find Full Text PDFUnraveling Shulman's syndrome: A rare case of eosinophilic fasciitis in a pediatric patient with fascial abnormalities on MRI.
Radiol Case Rep
March 2025
Departement of radiology HER, University Mohammed V Rabat, Rabat, Morocco.
We report the case of a 15-year-old girl who presented with a 2-month history of severe fatigue and rapidly worsening myalgia. Biological tests revealed hypereosinophilia and an inflammatory syndrome. MRI showed increased signal intensity in the superficial and deep aponeurotic layers on T2-weighted images, with moderate fascia enhancement after contrast administration.
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