Results 61 to 70 of about 99,459 (305)

Bloom syndrome with lung involvement

Lung India, 2009
We report a case of a 24-year old male presented with cough and breathlessness with diabetes mellitus and diagnosed as a case of bloom syndrome. He was a product of consanguineous marriage, having short stature, dolicocephaly, polydactyly, prominent nose
Nair Girija, Lobo Ivona, Jayalaksmi T, Uppe Abhay, Jindal Savita, Chandra Abhishek, Swami Shivani   +6 more
doaj  

The MRN complex is transcriptionally regulated by MYCN during neural cell proliferation to control replication stress [PDF]

, 2015
The MRE11/RAD50/NBS1 (MRN) complex is a major sensor of DNA double strand breaks, whose role in controlling faithful DNA replication and preventing replication stress is also emerging. Inactivation of the MRN complex invariably leads to developmental and/
A Dupre, A Gulino, A Kuzyk, A Shibata, A Soriani, A Wey, A Wey, AM Duursma, AM Taylor, B Argenti, B Ricci, B Shiotani, BR Stanton, C Bruhn, C Heil, CJ Thiele, CL Marcelis, D Dominguez-Sola, D Fruci, DW Felsher, EA Rahal, F Sardina, G Giannini, G Giannini, H van Bokhoven, HE Bryant, I Screpanti, J Buis, J Charron, J Lafrance-Vanasse, J Wu, K Schlacher, K Trenz, KA Cole, KH Chrzanowska, KK To, L Di Marcotullio, LJ Valentijn, M Cognet, M Murga, M Petroni, M Petroni, M Sahún-Roncero, M Wilda, M Wojewodzka, O Chayka, P Khongkow, PE Neiman, PJ Hurlin, PO Frappart, PS Knoepfler, R Moser, R Thompson, R Waltes, RS Williams, RV Pusapati, S Albini, S Biton, S Ray, S Rohban, S Sawai, S Ying, SV Srinivasan, TG Oliver, TH Stracker, V Colicchia, V Veschi, V Veschi, W Lutz, YC Chiang, YL Lin   +70 more
core   +1 more source

Monocyte LOXHD1 and RHOB Expression Predictive of Progressive Systemic Sclerosis–Associated Interstitial Lung Disease

Arthritis Care &Research, EarlyView.
Objective A leading cause of death among patients with scleroderma (SSc), interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M. Padilla, Robert Lafyatis, Kevin F. Gibson, Christina Morse, Eleanor Valenzi, Xiaoping Chen, Xiaoyun Li, Yanwu Zhao, Yongseok Park, Dana Ascherman, Jonathan Minden, Robyn Domsic, Yingze Zhang, Daniel J. Kass   +13 more
wiley   +1 more source

Xanthone Derivatives and Their Potential Usage in the Treatment of Telangiectasia and Rosacea

Applied Sciences
Xanthone derivatives, a class of natural compounds abundantly found in plants such as mangosteen (Garcinia mangostana) and certain herbs, have garnered substantial interest due to their diverse pharmacological properties, including antioxidant, anti ...
Katarzyna Brezdeń, Anna M. Waszkielewicz   +1 more
doaj   +1 more source

Coats disease: An overview of classification, management and outcomes

Indian Journal of Ophthalmology, 2019
Coats disease is an idiopathic retinal vascular disorder with retinal telangiectasia with intraretinal and/or subretinal exudation without appreciable retinal or vitreal traction.
Mrittika Sen, Carol L Shields, Santosh G Honavar, Jerry A Shields   +3 more
doaj   +1 more source

Liver Assessment in Patients with Ataxia-Telangiectasia: Transient Elastography Detects Early Stages of Steatosis and Fibrosis [PDF]

, 2023
Helena Donath, Sandra Wölke, Viola Knop, Ursula Heß, Ruth Pia Duecker, Jordis Trischler, Thierry Poynard, Ralf Schubert, Stefan Zielen   +8 more
openalex   +1 more source

A Smart Bio‐Battery Facilitates Diabetic Bone Defect Repair Via Inducing Macrophage Reprogramming and Synergistically Modulating Bone Remodeling Coupling

Advanced Functional Materials, EarlyView.
This research presents a novel implantable bio‐battery, GF‐OsG, tailored for diabetic bone repair. GF‐OsG generates microcurrents in high‐glucose conditions to enhance vascularization, shift macrophages to the M2 phenotype, and regulate immune responses.
Nanning Lv, Haifu Sun, Wenxiang Tang, Yonggang Li, Zhonglai Qian, Lihui Hong, Chong Chen, Hongye Li, Jiaxiang Bai, Yusen Qiao, Mingming Liu   +10 more
wiley   +1 more source

Unilateral nevoid telangiectasia: A rare disease?

Indian Journal of Dermatology, 2012
Unilateral nevoid telangiectasia is a rare congenital or acquired disorder. The majority of the authors propose that it is probably related to elevated estrogen receptors, although other authors advocate different theories.
Rita Guedes, L Leite
doaj   +1 more source

Ataxia telangiectasia

Seminars in Pediatric Neurology
Ataxia telangiectasia (AT) is a rare neurocutaneous syndrome that results from biallelic pathogenic variants in the ataxia telangiectasia mutated (ATM) gene, named for its characteristic cerebellar ataxia in the early toddler years and variable oculocutaneous telangiectasias in the school age years. While its name only hints at neurologic and cutaneous
John Collyer, Deepa S Rajan
openaire   +2 more sources

Microneedle Technology in Psoriasis Management: Mechanistic Insights, Technological Innovation, Clinical Progress, and Challenges

Advanced Healthcare Materials, EarlyView.
This review explores the evolving role of microneedle systems in psoriasis management, highlighting their potential for enhanced drug delivery, diagnosis, and disease monitoring. It also discusses unmet clinical needs for psoriasis management and technical challenges, while outlining strategic directions to advance microneedle integration into routine ...
Fatma Moawad, Yasmine Ruel, Roxane Pouliot, Davide Brambilla   +3 more
wiley   +1 more source