Results 91 to 100 of about 9,391,147 (295)

Thermo‐Chemically Modified Silk Scaffolds Reveal Niche‐Driven Regulation of Hematopoiesis and Fibrosis

Small, EarlyView.
We introduce a versatile 3D platform that recreates key physical and biological features of the human bone marrow. By integrating tunable silk biomaterials, stromal cells, and human hematopoietic progenitors, the model captures both healthy and diseased microenvironments, analysis of blood formation, and its disruption in pathological conditions ...
Christian A. Di Buduo, Carolina P. Miguel, Giulia Della Rosa, Vittorio Abbonante, Santo Diprima, Delfina Tosi, Marta Filibian, Daniele Cattaneo, Jugal Kishore Sahoo, Nicola Tirelli, Alessandra Iurlo, Umberto Gianelli, David L. Kaplan, Alessandra Balduini   +13 more
wiley   +1 more source

Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI [PDF]

, 2017
Lysosomal Storage Disorders (LSD) are rare diseases that as a whole havea combined incidence ranging from 1:1500 to 1:7000 live births. One of suchdiseases is Mucopolysaccharidosis VI (MPS VI), or Maroteaux Lamy Syndrome.MPS VI patients undergo ...
Adamo, Ana María, Franco, Paula Gabriela, Mathieu, Patricia Andrea, Perez, Maria Julia, Setton, Clara Patricia, Silvestroff, Lucas   +5 more
core  

A biochemical and ultrastructural evaluation of the type 2 Gaucher mouse [PDF]

, 1995
Gaucher mice, created by targeted disruption of the glucocerebrosidase gene, are totally deficient in glucocerebrosidase and have a rapidly deteriorating clinical course analogous to the most severely affected type 2 human patients.
Eliason, W.K. (W.), Ginns, E.I. (E.), LaMarca, M.E. (M.), Martin, B.M. (B.), Mulligan, R.C., Reuser, A.J.J. (Arnold), Sidransky, E. (Ellen), Tremblay, M. (M.), Tybulewicz, V. (Victor), Westphal, H. (H.), Willemsen, R. (Rob)   +10 more
core   +1 more source

Stratum Corneum Ceramide Abnormalities in Atopic Dermatitis: Pathophysiology and Implications for Disease Management

The Journal of Dermatology, EarlyView.
ABSTRACT The stratum corneum, as the outermost layer of the skin, functions as a critical barrier that maintains cutaneous hydration and systemic homeostasis. Among its structural lipids, ceramides constitute the most abundant and diverse component. These molecules are essential for the formation of lamellar structures that secure barrier integrity ...
Takashi Sakai
wiley   +1 more source

Outcomes after 18 months of eliglustat therapy in treatment‐naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial

American journal of hematology/oncology, 2017
Eliglustat, an oral substrate reduction therapy, is a first‐line treatment for adults with Gaucher disease type 1 (GD1) who are poor, intermediate, or extensive CYP2D6 metabolizers (>90% of patients).
P. Mistry, E. Lukina, H. Ben Turkia, S. Shankar, H. Baris, M. Ghosn, A. Mehta, S. Packman, G. Pastores, M. Petakov, S. Assouline, M. Balwani, S. Danda, E. Hadjiev, Andrés Ortega, Sebastiaan J. M. Gaemers, Regina Tayag, M. J. Peterschmitt   +17 more
semanticscholar   +1 more source

Model for Quantitative Evaluation of Enzyme Replacement Treatment [PDF]

, 2009
Gaucher disease is the most frequent lysosomal disorder. Its enzyme replacement treatment was the new progress of modern biotechnology, successfully used in the last years.
Radeva B.
core  

Longitudinal changes in choroidal thickness in high myopia: Correlation with maculopathy progression and visual outcomes

Acta Ophthalmologica, EarlyView.
Abstract Purpose To evaluate longitudinal changes in choroidal thickness (CT) in highly myopic eyes and their correlation with myopic maculopathy progression and visual outcomes. Methods Retrospective cohort study on 1228 eyes from 781 highly myopic patients with a minimum 5‐year follow‐up (mean 11.5 ± 3.1 years).
Matteo Mario Carlà, Francesco Boselli, Federico Giannuzzi, Emanuele Crincoli, Fiammetta Catania, Agnese Maria Perugini, Gloria Gambini, Stanislao Rizzo, Carlos Mateo   +8 more
wiley   +1 more source

The cognitive profile of type 1 Gaucher disease patients [PDF]

, 2018
This is the final version of the article. Available from the publisher via the DOI in this record.BACKGROUND: The absence of neurological symptoms and signs is traditionally considered mandatory for a diagnosis of type 1 Gaucher disease (GD1), but in ...
Biegstraaten, M, Giraldo, P, Hollak, CEM, Hughes, D, Luzy, C, Maródi, L, Mehta, A, Mengel, K-E, Mrsic, M, Niederau, C, Petakov, M, van Schaik, IN, Wesnes, KA   +12 more
core   +1 more source

Validity assessment for technical skills and stress management of the HelpMeSee® Manual Small Incision Cataract Surgery module

Acta Ophthalmologica, EarlyView.
Abstract Purpose To assess the validity of the HelpMeSee Manual Small Incision Cataract Surgery (MSICS) module as a virtual reality training tool for technical skills and stress management in ophthalmology. Methods This prospective study enrolled 47 volunteer surgeons from five groups: four groups of eye surgeons with increasing experience (novice ...
Lea Dormegny, Marion Schaeffer, Nicole Neumann, Remi Yaïci, Lauriana Solecki, Gauthier Dechriste, Emilia Koestel, David Gaucher, Arnaud Sauer, Van Charles Lansingh, Anne Lejay, Nabil Chakfé, Tristan Bourcier   +12 more
wiley   +1 more source

A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease

Haematologica, 2008
Background Gaucher disease is the first lysosomal storage disease for which specific therapy became available. Over 4800 patients have been treated with enzyme replacement therapy.
Maja Di Rocco, Fiorina Giona, Francesca Carubbi, Silvia Linari, Fabrizio Minichilli, Roscoe O. Brady, Giuliano Mariani, Maria Domenica Cappellini   +7 more
doaj   +1 more source