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Segmental Stiff Skin Syndrome: A Rare Case Report from Indonesia

Berkala Ilmu Kesehatan Kulit dan Kelamin (Periodical of Dermatology and Venerology)
Background: This paper reports a segmental Stiff Skin Syndrome (SSS) case in a four-year-old girl. SSS is a rare disease characterized by skin hardening and joint stiffness due to a mutation of the fibrillin-1 (FBN-1) gene encoding the fibrillin protein.
Hafidzah Nurmastuti +5 more
doaj +1 more source

Studies on TGF-β family signalling in the diseased lung tissue [PDF]

, 2012
This thesis focuses on transforming growth factor (TGF)-β signalling system in the human lung. Two lung parenchymal diseases, idiopathic pulmonary fibrosis (IPF) and chronic obstructive pulmonary disease (COPD), were studied.
Leppäranta, Outi
core

Aqueous humor TGFβ and fibrillin-1 in Tsk mice reveal clues to POAG pathogenesis

Scientific Reports
Aqueous humor (AH) and blood levels of transforming growth factor β (TGFβ) are elevated in idiopathic primary open angle glaucoma (POAG) representing a disease biomarker of unclear status and function.
James C. Tan +4 more
doaj +1 more source

New Insights into the Assembly of Extracellular Microfibrils from the Analysis of the Fibrillin 1 Mutation in the Tight skin Mouse [PDF]

, 2000
Barbara Gayraud-Morel +3 more
openalex +1 more source

Multi-exon deletions of the FBN1 gene in Marfan syndrome

BMC Medical Genetics, 2001
Background Mutations in the fibrillin -1 gene (FBN1) cause Marfan syndrome (MFS), an autosomal dominant multi-system connective tissue disorder. The 200 different mutations reported in the 235 kb, 65 exon-containing gene include only one family with a ...
Schrijver Iris +4 more
doaj +1 more source

Expression of latent TGF-beta binding proteins and association with TGF-beta1 and fibrillin-1 following arterial injury [PDF]

, 2002
Sanjay Sinha
openalex +1 more source

In vivo topical application of acetyl aspartic acid increases fibrillin‐1 and collagen IV deposition leading to a significant improvement of skin firmness [PDF]