Results 91 to 100 of about 16,645,960 (212)

Gaucher disease diagnosed after bone marrow trephine biopsy — a report of two cases

Folia Histochemica et Cytobiologica, 2011
The hematologist is at the forefront of specialists to whom patients with Gaucher disease presentbecause of cytopenia and hepatosplenomegaly. Usually, patients with such symptoms have undergone trephinebiopsy. We present the cases of two patients in whom
Bożena Sokołowska, Danuta Skomra, Barbara Czartoryska, Waldemar Tomczak, Anna Tylki-Szymańska, Tomasz Gromek, Anna Dmoszyńska   +6 more
doaj  

Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models [PDF]

, 2016
Gaucher disease is caused by inherited deficiency of lysosomal glucocere-brosidase. Proteome analysis of laser-dissected splenic Gaucher cells revealed increased amounts of glycoprotein nonmetastatic melanoma protein B (gpNMB).
Pavlova, E., Vissers, J.P., Ottenhoff, Roelof, Verhoek, M., Kallemeijn, Wouter, Kallemeijn, W.W., Nelson, J., Aerts, J.M.F.G., Aerts, Johannes M., Kramer, G., Verhoek, Marri, Gaspar, P., Eijk, M.C. van, Pavlova, Elena, Nelson, Jessica, Boot, Rolf G., Gabriel, T., Donker-Koopman, W., Kramer, Gertjan, Donker-Koopman, Wilma, Cox, T., Cox, Timothy, Boot, R.G., Gabriel, Tanit, Moran, Mary Teresa, van Eijk, Marco, Gaspar, Paulo, Ottenhoff, R., Laman, J.D., Wegdam, Wouter, Vissers, Johannes P. C., Wegdam, W., Moran, M.T., Laman, Jon D.   +33 more
core   +3 more sources

Sphingolipids: the nexus between Gaucher disease and insulin resistance

Lipids in Health and Disease, 2010
Sphingolipids constitute a diverse array of lipids in which fatty acids are linked through amide bonds to a long-chain base, and, structurally, they form the building blocks of eukaryotic membranes.
Fuller Maria
doaj   +1 more source

Proteomic Signatures of Noise‐Induced Hearing Loss in the Mouse Cochlea

Cell Biology International, Volume 50, Issue 10, October 2026.
ABSTRACT Hearing loss affects over 1.5 billion people worldwide and has substantial social, educational, and economic consequences. Although genetic studies have identified numerous hearing‐loss‐associated genes, the molecular changes accompanying noise‐induced hearing loss (NIHL) remain incompletely understood.
Ana Carla Batissoco, Danillo Alencar‐Coutinho, Ana Carolina Ferreira‐Scatone, Stella Diogo‐Cavassana, Jeanne Oiticica, Karina Lezirovitz, Ricardo Ferreira Bento   +6 more
wiley   +1 more source

Gaucher disease type I: analysis of two cases with thalassemic facies and pulmonary arteriovenous fistulas

The Turkish Journal of Pediatrics, 2001
Here we report two unusual patients with Gaucher disease type I. Both girls admitted with hepatosplenomegaly, growth retardation, and anemia at four and 2.5 years of age, and Gaucher cells were seen on bone marrow aspirates.
F Gürakan, N Koçak, A Yüce, H Ozen
doaj  

Glucosylsphingosine affects mitochondrial function in a neuronal cell model

Communications Biology
Gaucher disease arises from mutations in glucocerebrosidase resulting in accumulation of glucosylceramide, which is deacylated to glucosylsphingosine.
Valeria Nikolaenko, Reddy Vootukuri, Simon Eaton, Jenny Hällqvist, Tomas Baldwin, Kevin Mills, Wendy Heywood   +6 more
doaj   +1 more source

Niemann-Pick disease, type B with TRAP-positive storage cells and secondary sea blue histiocytosis

European Journal of Histochemistry, 2009
We present 2 cases of Niemann Pick disease, type B with secondary sea-blue histiocytosis. Strikingly, in both cases the Pick cells were positive for tartrate resistant acid phosphatase, a finding hitherto described only in Gaucher cells.
R. Saxena, H.P. Pati, S. Dutta, R. Kar, P. Sharma   +4 more
doaj   +1 more source

Action Spectroscopy of Mass‐Selected Ions—From Principles to Applications

Journal of Mass Spectrometry, Volume 61, Issue 10, October 2026.
ABSTRACT Gas‐phase ion spectroscopy provides direct, structure‐sensitive information that complements and extends conventional mass spectrometry workflows, offering structural resolution that accurate mass and fragmentation patterns alone cannot always achieve by themselves.
Pedro Henrique Martins Garcia, Gustavo Cervi, Cesar Augusto Gonçalves Dantas, Guilherme Obeid, Thiago C. Correra   +4 more
wiley   +1 more source

Amphiphilic Motif Triggers Microheterogeneity in Low‐Melting Mixtures

Small Structures, Volume 7, Issue 10, October 2026.
Alkylated cholinium iodides are synthesized and mixed with ethylene glycol, resulting in low‐melting mixtures (LMMs). Ammonium alkylation induces amphiphilicity and drives nanoscale segregation into charge‐rich and charge‐poor domains. Combined spectroscopic, scattering, and computational analyses reveal how headgroup alkylation and counterion effects ...
Barbara Rossi, Alessandro Mariani, Mariagrazia Tortora, László Almásy, Arianna Rossetti, Laura Riva, Alessandro Sacchetti, Maria Enrica Di Pietro, Franca Castiglione, Antonino Famulari, Alessandra Del Giudice, Matteo Tommasini, Andrea Lucotti, Barbara Kirchner, Andrea Mele   +14 more
wiley   +1 more source

Evolution‐Inspired Engineering of Diterpene Biosynthesis via Chloroplast Genome Modification

Plant Biotechnology Journal, Volume 24, Issue 10, Page 5510-5525, October 2026.
ABSTRACT Terpenes constitute the largest and most structurally diverse class of plant secondary metabolites, with critical roles in plant‐environment interactions and broad industrial applications. Although nuclear genome engineering of terpene pathways has been extensively explored, chloroplast genome engineering remains largely undeveloped, with most
Alessandro Occhialini, Xinlu Chen, Samantha A. Miller, Mohammad Majdi, Ivette A. Fuentes Quispe, Gabriella King, Feng Chen   +6 more
wiley   +1 more source