Results 101 to 110 of about 19,229 (251)

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

One More Piece in the Fibrillin Puzzle [PDF]

Structure, 2009
Jensen et al. report the crystal structure of a human fibrillin-1 hybrid domain in this issue of Structure. This domain is found exclusively in the fibrillin/latent transforming growth factor-β binding protein superfamily and shares structural features with two other domains in these proteins, the TB/8-Cys and the cbEGF domains.
Dieter P. Reinhardt, Dirk Hubmacher
openaire   +2 more sources

An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death. [PDF]

, 2016
Marfan syndrome (MFS) is a heritable connective tissue disorder caused by mutations in FBN1, which encodes the extracellular matrix protein fibrillin-1.
Bernard, William George, Granata, Alessandra, Low, Lucinda, McNamara, Madeline, Sastry, Priya, Serrano, Felipe, Sinha, Sanjay   +6 more
core   +1 more source

Pathogenic Mechanisms of Bicuspid Aortic Valve Aortopathy

Frontiers in Physiology, 2017
Bicuspid aortic valve (BAV) is the most common congenital valvular defect and is associated with ascending aortic dilation (AAD) in a quarter of patients. AAD has been ascribed both to the hemodynamic consequences of normally functioning and abnormal BAV
Noor M. Yassine, Jasmine T. Shahram, Simon C. Body   +2 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

Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia: A novel mouse model providing insights on geleophysic dysplasia [PDF]

, 2015
Mutations in the secreted glycoprotein ADAMTSL2 cause recessive geleophysic dysplasia (GD) in humans and Musladin–Lueke syndrome (MLS) in dogs. GD is a severe, often lethal, condition presenting with short stature, brachydactyly, stiff skin, joint ...
Apte, Suneel S., Hubmacher, Dirk, Mecham, Robert P., Reinhardt, Dieter P., Wang, Lauren W.   +4 more
core   +2 more sources

Differential gene reactions reveal drought response strategies in African acacias

The Plant Journal, Volume 123, Issue 3, August 2025.
SUMMARY Drought tolerance involves a complex series of genetic reactions that expand over time as water stress intensifies. We investigated gene expression reactions over 43 days of drought stress in two widespread African savanna trees: the umbrella acacia (Vachellia tortilis) and the splendid thorn acacia (Vachellia robusta).
Ellen I. Weinheimer, Scott T. Cory, Nicholas Kortessis, T. Michael Anderson, James B. Pease   +4 more
wiley   +1 more source

Preoperative Skin Conditioning: Extracellular Matrix Clearance and Skin Bed Preparation, A New Paradigm. [PDF]

, 2019
This paper introduces the concept of "skin bed preparation" prior to surgical procedures. Following the theory of chronic wound bed preparation and adapting the skin model to one of chronic wound changes related to extrinsic and intrinsic factors, a ...
Cohen, Steven R, Fagien, Steven, Widgerow, Alan D   +2 more
core  

A patient with pleuroparenchymal fibroelastosis carrying a novel fibrillin-2 gene variant

Respiratory Medicine Case Reports, 2023
Pleuroparenchymal fibroelastosis is a recently recognized clinical entity characterized by interstitial pneumonia with proliferating elastin in the upper lung regions. Pleuroparenchymal fibroelastosis is categorized as idiopathic or reported depending on
Kouko Hidaka, Tetsuichiro Inai, Tomoki Kosho, Tomomi Yamaguchi, Yoshinori Kawabata, Yuko Inai, Shogo Imamura, Sakiko Sanada   +7 more
doaj  

Feeder Cell Detachment in Drug Response Profiling of Leukemia Cell Coculture Can Be Prevented by Conditioned Medium

Cancer Medicine, Volume 14, Issue 14, July 2025.
ABSTRACT Background Determining drug sensitivity in tumor cells ex vivo is a frequently used method not only in leukemia cell research but also serves as an indispensable tool for searching for alternative treatment strategies for leukemia patients unresponsive to classical treatment.
Ivana Vonkova, Olga Martinkova, Jitka Stancikova, Ctibor Skuta, Ondrej Hrusak, Petr Bartunek   +5 more
wiley   +1 more source