Results 61 to 70 of about 19,229 (251)

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

Characterization of Microfibrillar-associated Protein 4 (MFAP4) as a Tropoelastin- and Fibrillin-binding Protein Involved in Elastic Fiber Formation [PDF]

, 2015
MFAP4 (microfibrillar-associated protein 4) is an extracellular glycoprotein found in elastic fibers without a clearly defined role in elastic fiber assembly.
Heumüller, Stefanie E, Holm, Anne T, Holmskov, Uffe, Moeller, Jesper B, Moestrup, Soren K, Pilecki, Bartosz, Schlosser, Anders, Sengle, Gerhard, Sorensen, Grith L, Wallis, Russell, Wohl, Alexander P, Zuk, Alexandra V   +11 more
core   +1 more source

Elastic fiber assembly is disrupted by excessive accumulation of chondroitin sulfate in the human dermal fibrotic disease, keloid [PDF]

, 2009
Keloid is a fibrotic disease characterized by abnormal accumulation of extracellular matrix in the dermis. The keloid matrix contains excess collagen and glycosaminoglycans (GAGs), but lacks elastic fiber. However, the roles of these matrix components in
Ikeda, Mika, Ishiko, Toshihiro, Kubota, Hiroshi, Kurokawa, Masako, Nagata, Kazuhiro, Naitoh, Motoko, Nakamura, Tomiyuki, Suzuki, Shigehiko, Utani, Atsushi, Yamawaki, Satoko, Yoshikawa, Katsuhiro   +10 more
core   +1 more source

The ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin motifs) family [PDF]

, 2015
The ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin motifs) enzymes are secreted, multi-domain matrix-associated zinc metalloendopeptidases that have diverse roles in tissue morphogenesis and patho-physiological remodeling, in ...
A Colige, A Didangelos, A Luque, A Moncada-Pazos, A Noel, A Tan Ide, AC Jonsson-Rylander, AC Nicholson, AJ Fosang, B Joe, BH Koo, BH Koo, BV Nusgens, C Casal, C Esselens, C Gendron, C Kintakas, C Lopez-Otin, C Ricciardelli, CB Kern, CG Viloria, CH Mjaatvedt, CJ Liu, CJ Liu, CL Jacobi, CM Dancevic, CN Brocker, CR Flannery, D Wagsater, DL Russell, DL Silver, DR Edwards, DR McCulloch, DT Jones, Dylan R Edwards, EA Lin, EC Arner, ED Karagiannis, EM Majerus, F Guo, F Vazquez, FG Brunet, FX Gomis-Ruth, FX Gomis-Ruth, G Gao, G Gao, G Hashimoto, G Murphy, GC Choi, GE Lind, GG Levy, GJ Wayne, Grant N Wheeler, H Enomoto, H Jin, H Stanton, H Stanton, HL Lung, HM Brown, I Abbaszade, I Peluso, Ines Desanlis, J Dubail, J Dubail, J Felsenstein, J Hofsteenge, J Huxley-Jones, J Huxley-Jones, J Morales, JA Pyun, JC Adams, JC Rodriguez-Manzaneque, JC Rodriguez-Manzaneque, JC Rodriguez-Manzaneque, JD Sandy, JM Longpre, K Demircan, K Fujikawa, K Gopalakrishnan, K Kuno, K Kuno, K Stankunas, K Tamura, K Yamamoto, K Yamamoto, L Angerer, L Faivre, L Mittaz, L Mosyak, L Troeberg, L Troeberg, L Troeberg, L Wagstaff, LA Collins-Racie, LE Dupuis, LM Ricketts, M Cudic, M Hour El, M Kashiwagi, M Krampert, M Llamazares, MA Aldahmesh, MD Tortorella, MN Vankemmelbeke, N Dagoneau, N Hattori, N Rocks, N Rocks, N Stupka, NH Lim, NV Lee, NV Lee, P Wang, PH Lo, PJ Koshy, PS Chockalingam, R Kelwick, RC Salter, RH Song, Richard Kelwick, RL Robker, RP Somerville, RP Somerville, RS Patel, S Abdul-Majeed, S Gerhardt, S Kumar, S Kumar, S Nandadasa, S Porter, S Porter, SS Apte, SS Glasson, T Fontanil, T Shindo, TN Wight, U Auf Dem Keller, W Du, W Zeng, WE Kutz, WM Wang, X Lu, X Pu, XL Zheng, YJ Liu, YP Hsu   +145 more
core   +1 more source

Congenital ectopia lentis : diagnosis and treatment [PDF]

, 2012
Congenital ectopia lentis (EL) is an ocular condition, which typically causes a high grade of refractive errors, mainly myopia and astigmatism. These might be difficult to compensate for, especially in children, who might develop ametropic amblyopia ...
Rysä Konradsen, Tiina
core   +1 more source

Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome [PDF]

, 2015
Three international nosologies have been proposed for the diagnosis of Marfan syndrome (MFS): the Berlin nosology in 1988; the Ghent nosology in 1996 (Ghent-1); and the revised Ghent nosology in 2010 (Ghent-2).
Bannas, Peter, Behzadi, Cyrus, Bernhardt, Alexander M, Blankenberg, Stefan, De Backer, Julie, Fuisting, Bettina, Hillebrand, Mathias, Kölbel, Tilo, Püschel, Klaus, Robinson, Peter N, Rybczynski, Meike, Schüler, Helke, Sheikhzadeh, Sara, von Kodolitsch, Yskert   +13 more
core   +2 more sources

Atenolol versus losartan in children and young adults with Marfan's syndrome [PDF]

, 2014
BACKGROUND : Aortic-root dissection is the leading cause of death in Marfan's syndrome. Studies suggest that with regard to slowing aortic-root enlargement, losartan may be more effective than beta-blockers, the current standard therapy in most centers.
Atz, A.M., Backer, J. de, Benson, D.W., Bradley, T.J., Braverman, A.C., Chen, S., Colan, S.D., Dietz, H.C., et al., Gelb, B.D., Grossfeld, P.D., Klein, G.L., Lacro, R.V., Lai, W.W., Levine, J.C., Liou, A., Loeys, B.L., Mahony, L., Markham, L.W., Olson, A.K., Paridon, S.M., Pearson, G.D., Pemberton, V.L., Pierpont, M.E., Pyeritz, R.E., Radojewski, E., Roman, M.J., Sharkey, A.M., Sleeper, L.A., Stylianou, M.P., Tierney, E.S., Wechsler, S.B., Yetman, A.T., Young, L.T.   +33 more
core   +2 more sources

When proteomics reveals unsuspected roles: the plastoglobule example

Frontiers in Plant Science, 2013
Plastoglobules are globular compartments found in plastids. Before initial proteomic studies were published, these particles were often viewed as passive lipid droplets whose unique role was to store lipids coming from the thylakoid turn-over, or to ...
Claire eBréhélin, Houda eNacir
doaj   +1 more source

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier, Christie A Boswell‐Patterson, Lucas Bronicki, Krista M. Vincent, Kalin Wilk, Andrea C. Yu, Gail E. Graham, Julie Richer   +7 more
wiley   +1 more source

Fibrillins in Adult Human Ovary and Polycystic Ovary Syndrome: Is Fibrillin-3 Affected in PCOS? [PDF]

Journal of Histochemistry & Cytochemistry, 2010
Polycystic ovary syndrome (PCOS) is a common endocrinopathy in women of reproductive age. Although genetic linkage analyses have demonstrated a susceptibility locus for PCOS mapping to the fibrillin-3 gene, the presence of fibrillin proteins in normal and polycystic ovaries has not been characterized. This study compared and contrasted fibrillin-1, −2,
Sandra D. Bohling, Noe L. Charbonneau, C. Diana Jordan, Lynn Y. Sakai, Lynn Y. Sakai   +4 more
openaire   +3 more sources