Results 51 to 60 of about 3,923 (158)

Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects

, 2020
Arterial tortuosity syndrome (ATS) is a recessively inherited connective tissue disorder, mainly characterized by tortuosity and aneurysm formation of the major arteries.
Barnhoorn, Sander, Beyens, Aude, Boel, Annekatrien, Burger, Joyce, Callewaert, Bert, Casteleyn, Christophe, Coucke, Paul, Descamps, Benedicte, Essers, Jeroen, Reinhardt, Dieter, Renard, Marjolijn, van der Pluijm, Ingrid, Vanhomwegen, Marine, Vanhove, Christian, Willaert, Andy   +14 more
core   +1 more source

From variome to phenome : pathogenesis, diagnosis and management of ectopic mineralization disorders [PDF]

, 2015
Ectopic mineralization - inappropriate biomineralization in soft tissues - is a frequent finding in physiological aging processes and several common disorders, which can be associated with significant morbidity and mortality.
De Vilder, eva, Vanakker, Olivier
core   +2 more sources

Bilateral lung transplantation for pulmonary emphysema associated with cutis laxa

JHLT Open
Cutis laxa is a rare elastic tissue disorder that mainly affects the skin and results in loss of elasticity. Occasionally, pulmonary emphysema complicates this condition.
Akira Matsumoto, Akihiro Ohsumi, Tomohiro Handa, Susumu Sato, Hiroyuki Katsuragawa, Hiroshi Date   +5 more
doaj   +1 more source

Quantitative susceptibility mapping of the human carotid artery: Assessing sensitivity to elastin and collagen ex vivo

Magnetic Resonance in Medicine, Volume 94, Issue 2, Page 771-784, August 2025.
Abstract Purpose The aim is to establish the relationship between carotid susceptibility and microstructural components in diseased carotid arteries. Methods Excised cadaveric carotid arteries (n = 5) were scanned using high‐resolution QSM at 7 Tesla. After ex vivo imaging, all samples were brought to histology and stained for elastin, collagen, cells,
Alan J. Stone, Brooke Tornifoglio, Francesco Digeronimo, Karin Shmueli, Caitríona Lally   +4 more
wiley   +1 more source

Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities [PDF]

, 2018
Pyrroline-5-carboxylate reductase 1 (PYCR1) catalyzes the last step in proline synthesis. Deficiency of PYCR1, caused by a defect in PYCR1, was recently described in patients with cutis laxa, intrauterine growth retardation, developmental dysplasia of ...
Baumer, Alessandra, Baumgartner, Matthias, Bozorgmehr, Bita, Giunta, Cecilia, Hausser, Ingrid, Häberle, Johannes, Kariminejad, Ariana, Kariminejad, Mohamad, Kretz, Rita, Rohrbach, Marianne   +9 more
core  

Beyond Tuberculosis: A Rare Case of Mounier‐Kuhn Syndrome in an Ethiopian Woman With Chronic Cough and Bronchiectasis

Clinical Case Reports, Volume 13, Issue 7, July 2025.
ABSTRACT This case highlights the importance of considering rare conditions like Mounier‐Kuhn Syndrome in patients with chronic respiratory symptoms, especially in regions with high tuberculosis prevalence. Enhanced awareness and advanced imaging are vital for accurate diagnosis and effective management of such conditions.
Girma Deshimo, Enguday Demeke
wiley   +1 more source

Autosomal recessive cutis laxa type-1 with complex systemic manifestations

Indian Journal of Paediatric Dermatology, 2018
Cutis laxa (CL) is a rare connective tissue disorder characterized by loose, sagging, and redundant skin. Both inherited and acquired forms are known. A 7-year-old boy, presented with loose, sagging skin chiefly over the face, extremities, and skin folds
Shruti Dhanraj Chavan, Ashish Ramchandra Deshmukh, Aniruddha Dharnidhar Gulanikar, Shilpa Satyajeet Pathrikar, Iqbal Mohammad Tariq   +4 more
doaj   +1 more source

A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment. [PDF]

, 2017
Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. However, even if pathologic events resulting in both megalencephaly and macrocephaly may coexist, a distinction between these ...
Corsello G, Falsaperla R, Parano E, Pavone P, Praticò AD, Rizzo R, Ruggieri M   +6 more
core   +1 more source

Acquired Localized Cutis Laxa due to Increased Elastin Turnover

Case Reports in Dermatology, 2016
Cutis laxa is a rare disease characterized by abnormal skin wrinkling and laxity, due to decreased elastin synthesis or structural extracellular matrix defects.
Rie Harboe Nygaard, Scott Maynard, Peter Schjerling, Michael Kjaer, Klaus Qvortrup, Vilhelm A. Bohr, Lene J. Rasmussen, Gregor B.E. Jemec, Michael Heidenheim   +8 more
doaj   +1 more source

Efficacy and Mechanism of Bazi Bushen Capsule on Skin Laxity: A Combination of Clinical and Network Pharmacology Study

Journal of Cosmetic Dermatology, Volume 24, Issue 7, July 2025.
ABSTRACT Purpose This study aims to explore the mechanism of Bazi Bushen Capsule (BZBS) in treating skin laxity by combining network pharmacology and clinical research. Methods The active ingredients and potential drug targets of BZBS were obtained from TCMSP, TCMBANK, and SuperTCM databases.
Mo Zhao, Tuowei Li, Cuicui Cheng, Jun Mei, Fengqin Xu, Yuanbai Li, Yang Yang, Limin Yang, Jing Li, Xiaojie Zhang, Fangzhou Liu, Zhenhua Jia, Meng Hong   +12 more
wiley   +1 more source