Results 121 to 130 of about 15,376 (205)

A guide to building the matrisome interactome: from computational predictions to experimental validation

The FEBS Journal, Volume 293, Issue 1, Page 42-70, January 2026.
This guide proposes a roadmap combining state‐of‐the‐art computational and experimental approaches (including biophysical, biochemical, and imaging techniques) to identify, characterize, and contextualize extracellular matrix (ECM) protein interactions.
Leanna Leverton, Amanpreet Kaur Bains, Ikram Isa, Sylvie Ricard‐Blum, Alexandra Naba   +4 more
wiley   +1 more source

The Biomechanics of Fibrillin Microfibrils: Lessons from the Ciliary Zonule

Cells
Marfan syndrome is an inherited connective tissue disorder that affects the cardiovascular, musculoskeletal, and ocular systems. It is caused by pathogenic variants in the fibrillin-1 gene (FBN1).
Pooja Rathaur, Juan Rodriguez, John Kuchtey, Samuel Insignares, Wendell B. Jones, Rachel W. Kuchtey, Steven Bassnett   +6 more
doaj   +1 more source

Generation of a CRISPR/Cas9-corrected-hiPSC (NCCDFWi001-A-1) from a Marfan syndrome patient hiPSC with a heterozygous c.2613A>C variant in the fibrillin 1 (FBN1) gene

, 2021
Tianjiao Li, Baihui Ma, Hang Yang, Guoyan Zhu, Chang Shu, Mingyao Luo, Zhou Zhou   +6 more
openalex   +1 more source

Clinicopathological Challenge: A Progressively Enlarging Hardened Skin Plaque

International Journal of Dermatology, Volume 65, Issue 1, Page 15-17, January 2026.
ABSTRACT Stiff skin syndrome (SSS) is a rare connective tissue disease manifesting as a progressive, non‐inflammatory fibrosis that causes the skin and soft tissues to harden. It can result in restricted joint movement, particularly affecting the shoulder and pelvic girdle. A segmental variant with a better prognosis has been described.
Marian Fernández Martínez, Frida Paola Rivera Lira, Rodrigo Roldán‐Marín, Sonia Toussaint‐Caire   +3 more
wiley   +1 more source

Fibrillin-1 genotype and risk of prevalent hypertension: A study in two independent populations [PDF]

, 2012
Jørgen Jeppesen, Nikolaj Drimer Berg, Christian Torp‐Pedersen, Tine W. Hansen, Allan Linneberg, Mogens Fenger   +5 more
openalex   +1 more source

Advances in the Treatment of Striae Distensae

Journal of Cosmetic Dermatology, Volume 25, Issue 1, January 2026.
ABSTRACT Background Striae distensae (SD) is a common cutaneous condition with an estimated incidence of 56%, associated with rapid skin expansion, hormonal changes, and genetic factors. While traditional treatments (e.g., topical tretinoin, various lasers) exhibit limitations, non‐ablative fractional laser (NAFL), injectable fillers, alpha hydroxy ...
Yi Wu, Huaigu Wang
wiley   +1 more source

A c.3037G > A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype. [PDF]

, 2017
Marfan syndrome is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, mostly caused by mutations in the FBN1 gene, which is located on chromosome 15q21.1 and encoding fibrillin 1.
Bellacchio, Emanuele, Benettoni, Alessandra, Callea, Michele, Camarata-Scalise, Francisco, Clarich, Gabriella, Di Iorio, Enzo, Di Stazio, Mariateresa, Galeotti, Angela, Giovannoni, Isabelle, Vinciguerra, Agatino, Willoughby, Cohn Eric, Yavuz, Izzet   +11 more
core  

Peer Review #1 of "Genome-wide identification and expression analysis of fibrillin (FBN) gene family in tomato (Solanum lycopersicum L.) (v0.1)"

, 2022

openalex   +1 more source

How do baseline aortic root diameter, age and fibrillin-1 mutation affect the pooled effect of losartan on aortic dilatation? [PDF]

, 2019
Kee‐Hsin Chen, Hsin‐Hui Chiu, Yi‐No Kang   +2 more
openalex   +1 more source

The Marfan syndrome genetics

Zdravniški Vestnik, 2005
Background: The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue. It is caused by mutations in the fibrillin-1 gene encoding glycoprotein fibrillin-1, a component of microfibrils of extracellular matrix.
Galina Pungerčič
doaj