Results 71 to 80 of about 7,077 (251)

Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts.

PLoS ONE, 2019
Classical Ehlers-Danlos syndrome (cEDS) is a dominant inherited connective tissue disorder mainly caused by mutations in the COL5A1 and COL5A2 genes encoding type V collagen (COLLV), which is a fibrillar COLL widely distributed in a variety of connective
Nicola Chiarelli, Giulia Carini, Nicoletta Zoppi, Marco Ritelli, Marina Colombi   +4 more
doaj   +1 more source

Stress in dipteran insects mass‐reared for sterile insect technique applications

Insect Science, EarlyView.
The connections between biotic and abiotic stress affecting mass‐reared dipteran insects and the associated stress and immunological responses. Numbers indicate the order in which the topics are discussed in this review. Abstract Stress may be viewed as the disturbance of homeostasis of an organism.
Caroline K. Mirieri, Vera I.D. Ros, Adly M.M. Abd‐Alla, Monique M. van Oers   +3 more
wiley   +1 more source

Proteomic analysis of the bovine and human ciliary zonule [PDF]

, 2016
PURPOSE: The zonule of Zinn (ciliary zonule) is a system of fibers that centers the crystalline lens on the optical axis of the eye. Mutations in zonule components underlie syndromic conditions associated with a broad range of ocular pathologies ...
Bassnett, Steven, David, Larry L, De Maria, Alicia, Wilmarth, Phillip A   +3 more
core   +2 more sources

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

A Case Report of Marfan Syndrome with Literature Review [PDF]

, 2015
Marfan syndrome(MFS) is a connective tissue disorder that affects multiple organ systems. Cardiovascular, ocular, and skeletal abnormalities are cardinal features of the syndrome. Its incidence is among the highest of any heritable disorder.Most patients
Kalla, H. K. (Hemanth), kumari, S. (Swarna), parthasarathy, M. (MKR), rao, C. R. (CH), reddy, S. S. (S), Revathi, M. (M)   +5 more
core  

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

The myofibroblast matrix: implications for tissue repair and fibrosis [PDF]

, 2013
Myofibroblasts, and the extracellular matrix ( ECM ) in which they reside, are critical components of wound healing and fibrosis. The ECM , traditionally viewed as the structural elements within which cells reside, is actually a functional tissue whose ...
Acharya, Aeschlimann, Aigner, Akhmetshina, Annabi, Annes, Araya, Armulik, Asano, Avvedimento, Baldock, Barisic-Dujmovic, Barker, Barry-Hamilton, Barsky, Bartlett, Bellini, Berndt, Betz, Beyer, Booth, Borkham-Kamphorst, Borne, Borsi, Bossard, Bradshaw, Brigstock, Brigstock, Burch, Burns, Carey, Carracedo, Caves, Chan, Chang, Chanoki, Chapman, Chen, Chen, Chen, Chiquet-Ehrismann, Chung, Cirri, Coen, Colston, Counts, Cox, Crabb, Crawford, Cukierman, Dallas, De Wever, Desmoulière, Desmoulière, Di Donato, Discher, Dong, Douglass, Dranoff, Egging, El-Karef, Esposito, Fitzgerald, Fleischmajer, Follonier Castella, Fonseca, Fontana, Frangogiannis, Frangogiannis, Frantz, Funderburgh, Gabbiani, Godfrey, Goto, Grande, Grenard, Gressner, Gressner, Grotendorst, Gullberg, Gundemir, Hardie, Harris, Heerebeek, Heise, Hernandez-Gea, Herzog, Hildebrand, Hinz, Hinz, Hinz, Hinz, Hinz, Hinz, Hinz, Hinz, Honardoust, Horan, Huang, Huang, Humphreys, Hynes, Hynes, Hynes, Iozzo, Iredale, Ito, Iwaisako, Jenkins, Jiang, Jun, Kagan, Kagan, Kalamajski, Keeley, Kidd, Kim, Kis, Kliment, Kliment, Kohan, Kornblihtt, Kos, Krenning, Kuhn, Lagace, Lamme, Leask, Lee, Lenga, Li, Lin, Liu, Lopez, Lopez, Lorand, Lugassy, Macri, Magro, Mahida, Mangasser-Stephan, Mao, Mares, Martin, Matsui, McCurdy, McCurdy, Melchior-Becker, Meran, Mishra, Mollnau, Mori, Muro, Muro, Muro, Noblesse, Nurminskaya, Otranto, Ozbek, Piera-Velazquez, Pierce, Porter, Quaggin, Rahman, Ramirez, Ramirez, Ramirez, Rentz, Rodriguez, Rohr, Rohr, Rosenbloom, Roy, Sabatelli, Sandbo, Schnider, Schultz, Schürch, Scotton, Serini, Serini, Serrano, Shah, Shi-Wen, Shi-wen, Simpson, Singh, Singh, Sivakumar, Sivan, Smith, Smith-Mungo, Specks, Stepp, Stokes, Streuli, Swee, Sweetwyne, Talior-Volodarsky, Tamaoki, Tang, Todorovic, Tokudome, Tomasek, Tomasek, Twarock, Uitto, Vadasz, Varga, Venkataraman, Verzijl, Volk, Voloshenyuk, Wagenseil, Wang, Wang, Webber, White, Whiting, Wijelath, Wilkes, Wipff, Woods, Wynn, Wynn, Yamaguchi, Yates, Yoshinaga, Zeichen, Zhang, Zilberberg, Zwetsloot   +231 more
core   +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

Fibrillin–integrin interactions in health and disease

Biochemical Society Transactions, 2008
Human fibrillin-1 is the major structural protein of extracellular matrix 10–12 nm microfibrils. It has a disulfide-rich modular organization which consists primarily of cbEGF (Ca2+-binding epidermal growth factor-like) domains and TB (transforming growth factor β-binding protein-like) domains.
Jovanovic, J, Iqbal, S, Jensen, S, Mardonf, H, Handford, P   +4 more
openaire   +5 more sources

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