Results 81 to 90 of about 23,678,950 (225)

Genetic Association of Primary Angle‐Closure Glaucoma and Disease Progression

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background To investigate single‐nucleotide polymorphisms (SNPs) reported in the largest up‐to‐date systematic review and meta‐analysis on primary angle‐closure disease (PACD), on their associations with primary angle‐closure glaucoma (PACG) and disease progression.
Yu Jing Liang, Anni Ling, Poemen P. Chan, Jason C. Yam, Chi Pui Pang, Clement C. Tham, Li Jia Chen   +6 more
wiley   +1 more source

Generation of human induced pluripotent stem cell line UGENTi001-A from a patient with Marfan syndrome carrying a heterozygous c.7754 T > C variant in FBN1 and the isogenic control UGENT001-A-1 using CRISPR/Cas9 editing

Stem Cell Research, 2023
Marfan syndrome is an autosomal dominant genetic disorder resulting from pathogenic variants in FBN1 gene. FBN1 encodes for fibrillin-1, an important extracellular matrix protein.
Jeffrey Aalders, Laurens Léger, Anthony Demolder, Laura Muiño Mosquera, Paul Coucke, Björn Menten, Julie De Backer, Jolanda van Hengel   +7 more
doaj  

Impact of N‐linked glycans on the dual short fibulin/LTBP‐4 axes regulating elastogenesis

The FEBS Journal, EarlyView.
Elastic fiber assembly is orchestrated by multiple glycoproteins. We delineate the molecular basis of two key axes involved in elastic fiber formation—LTBP‐4L/fibulin‐4 and LTBP‐4S/fibulin‐5. We show that N‐linked glycans on these glycoproteins regulate their interactions and conformations, both of which are critical aspects in elastic fiber formation.
Valentin Nelea, Heena Kumra, Chae Syng Lee, Daniel Williamson, Hana Hakami, Rong‐Mo Zhang, Neha E. H. Dinesh, Robert Haltiwanger, Dieter P. Reinhardt   +8 more
wiley   +1 more source

P10.05 REDUCED MOLECULAR FLEXIBILITY IN THE LARGE ARTERIES OF DIABETIC RATS

Artery Research, 2009
In Type 1 and 2 diabetes tissue stiffening is evident from measurements of the gross mechanical properties of the vasculature. In general, pathological glycosylation of extracellular matrix proteins may play an important role in increasing stiffness in ...
R. Akhtar, N. Gardiner, J.K. Cruickshank, B. Derby, M.J. Sherratt   +4 more
doaj   +1 more source

Correlating Optical Coherence Tomography and Other Noninvasive Imaging Features With Atrophic and Hypertrophic Skin Photoaging

International Journal of Dermatology, Volume 64, Issue 8, Page 1441-1445, August 2025.
ABSTRACT Background According to morphological and clinical differences, atrophic (AP) and hypertrophic (HP) skin photoaging types have been reported. The current study examines the correlation between optical coherence tomography (OCT) and dynamic‐OCT (D‐OCT) features in subjects with skin photoaging types classified as AP, HP, or controls ...
Stefania Guida, Silvana Ciardo, Hassan Galadari, Barbara De Pace, Marco Manfredini, Johanna Chester, Shaniko Kaleci, Ilaria Proietti, Carmen Cantisani, Simone Michelini, Camilla Chello, Camila Scharf, Caterina Longo, Steven P. Nisticò, Francesca Farnetani, Franco Rongioletti, Giovanni Pellacani   +16 more
wiley   +1 more source

The ADAMTS/Fibrillin Connection: Insights into the Biological Functions of ADAMTS10 and ADAMTS17 and Their Respective Sister Proteases

Biomolecules, 2020
Secreted a disintegrin-like and metalloprotease with thrombospondin type 1 motif (ADAMTS) proteases play crucial roles in tissue development and homeostasis.
Stylianos Z. Karoulias, Nandaraj Taye, Sarah Stanley, Dirk Hubmacher   +3 more
doaj   +1 more source

Characterisation of spinal ligaments in the embryonic chick

Journal of Anatomy, EarlyView.
Use of the embryonic chick provides an opportunity to examine the maturation of spinal ligaments during development, to inform anatomical defects in the spine. Abstract Ligaments are important connective tissues within the musculoskeletal system that connect bone to bone and provide support and stability.
Sarah Hennigan, Ebru Talak Basturkmen, Rebecca A. Rolfe   +2 more
wiley   +1 more source

Genotype–Phenotype Correlations, Treatment, and Prognosis of Children With Early‐Onset (Neonatal) Marfan Syndrome

Clinical Genetics, Volume 108, Issue 2, Page 134-145, August 2025.
Early‐onset Marfan syndrome (eoMFS) is a rare disorder with atrioventricular valve insufficiency being the most severe symptom. We propose to regard eoMFS as a spectrum, ranging from a severe disorder life‐threatening already before or immediately after birth, to a disorder with a better survival rate, creating a window for atrioventricular valve ...
Eva C. van der Leest, Annelies E. van der Hulst, Gerard Pals, Lidiia Zhytnik, Lillian Lai, Caroline Jacquemart, Lindsay Mills, Michiel Houben, Petr Jira, Bert L. Lunshof, Jessica Warnink‐Kavelaars, Vivian de Waard, Leonie A. Menke   +12 more
wiley   +1 more source

Giant Aortic Root Aneurysm in a Young Patient With Marfan Syndrome: A Clinical Image

Clinical Case Reports, Volume 13, Issue 7, July 2025.
ABSTRACT Marfan syndrome predisposes individuals to severe cardiovascular complications, including aortic root aneurysms, with a high rupture risk. Timely diagnosis through advanced imaging and surgical intervention, such as the Bentall procedure, is essential.
Syed Mohsin Raza Bukhari, Muhammad Shahzad Raza, Muhammad Ans, Umema Shanza, Jalil Abbas, Kamran Yousuf, Mohsin Raza   +6 more
wiley   +1 more source

Mutation analysis of FBN1 gene in two Chinese families with congenital ectopia lentis in northern China [PDF]

International Journal of Ophthalmology, 2019
AIM: To summarize the phenotypes and identify the underlying genetic cause of the fibrillin-1 (FBN1) gene responsible for congenital ectopia lentis (EL) in two Chinese families in northern China. METHODS: A detailed family history and clinical data from
Su-Zhen Tang, Ya-Ning Liu, Shao-Hua Hu, Hao Chen, Hui Zhao, Xue-Mei Feng, Xiao-Jing Pan, Peng Chen   +7 more
doaj   +1 more source