Results 81 to 90 of about 9,175 (221)

Thrombocytopenia and GBA gene mutation in a patient with adult type 1 Gaucher disease

Platelets, 2017
A 38-year-old female patient was diagnosed with anemia for 3 years. Medical examination showed slight splenomegaly (250 × 62 mm), thrombocytopenia (platelets 51 × 109/L), anemia (Hb levels 107 g/L), and β-glucocerebrosidase activity (GBA) in leukocytes ...
Lagen Wan, Hong Wu, Fuyuan Xie, Yijun Nie   +3 more
doaj   +1 more source

Modular Molecular Design and Self‐Assembled Nanostructures of Saccharide‑Appended Cyclic Dipeptides for Glycosidase‑Responsive Supramolecular Hydrogels

Small, EarlyView.
Saccharide‐appended cyclic dipeptides are designed and developed as building blocks for glycosidase‐responsive supramolecular hydrogels. Their aqueous self‐assembly enables β‐galactosidase‐triggered gel‐to‐sol and neuraminidase‐triggered sol‐to‐gel transition systems, highlighting their potential as glycosidase‐responsive soft materials for biomedical ...
Shintaro Sugiura, Ryuta Tanaka, Sayuri L. Higashi, Aya Shibata, Koichiro M. Hirosawa, Kenichi G. N. Suzuki, Masato Ikeda   +6 more
wiley   +1 more source

Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene

Stem Cell Research, 2019
Gaucher Disease (GD) type 3 is a neurological form of a multisystemic autosomal recessive disorder belonging to the group of lysosomal storage diseases.
Ana Joana Duarte, Diogo Ribeiro, Renato Santos, Luciana Moreira, José Bragança, Olga Amaral   +5 more
doaj   +1 more source

Unlocking n‐alk‐1‐ynes conformers: Quantum “trigger finger” versus “stiff joint” conformations

Smart Molecules, EarlyView.
Quantum chemical analysis reveals the unique function of n‐alk‐1‐yne terminus as a Quantum “Trigger Finger,” exhibiting two near‐isoenergetic conformers (Cs ${\mathrm{C}}_{s}$and C1 ${\mathrm{C}}_{1}$) locked by a symmetric high barrier. This contrasts with the lower asymmetric barrier of the conventional asymmetric “Stiff Joint” alkyl chain.
Ioan Bâldea
wiley   +1 more source

Molecular dynamics simulations elucidate the misfolding mechanisms of secretion‐defective pancreatic lipase variants

The FEBS Journal, EarlyView.
Misfolding mutations in pancreatic lipase have been identified as potential contributors of chronic pancreatitis, an inflammatory disease of the human pancreas. Here, we describe the effect of these misfolding mutations on pancreatic lipase structure using molecular dynamics simulations and structural modeling.
Gyula Hoffka, András Szabó
wiley   +1 more source

Some histochemical observations on Gaucher cells.

, 1986
Plastic-embedded bone marrow biopsies from four patients with Gaucher's disease have been studied histochemically. Concanavalin A (ConA) was found to bind to cytoplasmic inclusions of Gaucher cells; the binding was prevented by lipid extraction or beta ...
BIANCO, Paolo, Bonucci E.
core  

Differentiating solar lentigines from post‐inflammatory hyperpigmentation with hyperspectral imaging: A pilot study

International Journal of Cosmetic Science, EarlyView.
This preliminary study attempted to characterize solar lentigines and post‐inflammatory hyperpigmentation (PIH) observed on Japanese women. Colorimetric features and chromophore concentrations were measured using hyperspectral imaging for each hyperpigmentation type.
Victor Egana, Carl Blaksley, Ayako Itaya, Mai Edagawa, Alexandre Nicolas   +4 more
wiley   +1 more source

Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease

Molecular Genetics and Metabolism Reports, 2014
A 1-year-old girl born to consanguineous parents presented with unexplained liver failure, leading to transplantation at 19 months. Subsequent partial splenectomy for persistent cytopenia showed the presence of foamy cells, and Gaucher disease was ...
Julie Harvengt, Catherine Wanty, Boel De Paepe, Christine Sempoux, Nicole Revencu, Joél Smet, Rudy Van Coster, Willy Lissens, Sara Seneca, Laurent Weekers, Etienne Sokal, François-Guillaume Debray   +11 more
doaj   +1 more source

Platelet Levels Associated With Bleeding Risk for Dental Interventions: A Systematic Review

Oral Diseases, EarlyView.
ABSTRACT Objectives To evaluate evidence in relation to postoperative bleeding in humans aged ≥ 16 with preoperative platelet counts < 50,000/μL, compared to those above, undergoing dental interventions. Methods Quantitative synthesis without meta‐analysis was conducted through an electronic search conducted on Ovid MEDLINE and Embase from 1946 to ...
Guang Xu David Lim, Fatima Al Sarraf, Hana Cho, Navdeep Kumar   +3 more
wiley   +1 more source

Gaucher disease: a model disorder for biomarker discovery

, 2009
Gaucher disease is an inherited lysosomal storage disorder, characterized by massive accumulation of glucosylceramide-laden macrophages in the spleen, liver and bone marrow as a consequence of deficient activity of glucocerebrosidase. Gaucher disease has
Sprenger, R.R., Boot, Rolf G, van Breemen, Mariëlle J, van Dussen, L., Sprenger, Richard R; id_orcid, Hollak, Carla E. M., Smilde, Age K., Aerts, J.M.F.G., Smilde, A.K.; id_orcid, van Dussen, Laura, Smilde, Age K, Sprenger, Richard R., Speijer, D.; id_orcid, Hoefsloot, H.C.J., Smilde, A.K., Boot, Rolf G., de Koster, Chris G., Hollak, C.E.M., Speijer, D., Vissers, J.P.C., Boot, R.G., de Jong, Shreyas, de Koster, Chris G, Hollak, Carla E M, van Breemen, Mariëlle J., Speijer, Dave, Aerts, Johannes M. F. G., van Breemen, M.J., de Jong, S., Hoefsloot, Huub C J, Hoefsloot, Huub C. J., Wegdam, Wouter, Vissers, Johannes P C, de Koster, C.G., Wegdam, W., Vissers, Johannes P. C., Aerts, Johannes M F G   +36 more
core   +1 more source