Results 91 to 100 of about 10,325 (203)

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease type A): Clinicopathologic correlations of a case report

Molecular Genetics and Metabolism Reports, 2020
Acid sphingomyelinase deficiency (ASMD; also known as Niemann-Pick Disease [NPD] A and B) is a rare lysosomal storage disease characterized by the pathological accumulation of sphingomyelin within multiple cell types throughout the body.
Beth L. Thurberg
doaj   +1 more source

Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial

Orphanet Journal of Rare Diseases, 2023
Background Olipudase alfa is a recombinant human acid sphingomyelinase enzyme replacement therapy for non-central-nervous-system manifestations of acid sphingomyelinase deficiency (ASMD). The ASCEND randomized placebo-controlled trial in adults with ASMD
Melissa P. Wasserstein, Robin Lachmann, Carla Hollak, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto Bernardo Guelbert, Julia B. Hennermann, Takayuki Ikezoe, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Jesus Villarrubia, Beth L. Thurberg, Abhimanyu Yarramaneni, Nicole M. Armstrong, Yong Kim, Monica Kumar   +20 more
doaj   +1 more source

Long-term biopermanence of ceramides, cholesteryl esters, and ether-linked triglycerides with very-long-chain PUFA in the cadmium-damaged testis [PDF]

, 2014
Cadmium is known to harm rat testis by causing the dose-dependent apoptotic or necrotic death of seminiferous epithelium cells. Here we investigated how this affects the lipids with long-chain (C18-C22) and very-long-chain (C24-C32) polyunsaturated fatty
Aveldaño, Marta I., Zanetti, Samanta Romina   +1 more
core   +2 more sources

A Curcumin‐Derived HSP70 Inhibitor Disrupts Lysosomal Function to Suppress Triple‐Negative Breast Cancer Progression

Cell Proliferation, EarlyView.
Novel curcumin‐derived M4 binds HSP70's ATPase domain, disrupting HSP70‐mediated lysosomes‐autophagy pathway to inhibit TNBC growth and metastasis, and synergizes with paclitaxel for potent combination therapy. ABSTRACT Structural modification of curcumin yielded a novel series of 1,4‐pentadien‐3‐one oxime ether derivatives, among which compound M4 ...
Zijian Li, Wanxia Wang, Yuxin Zhou, Tao Zeng, Jian Liu, Yingjie Qing, Xuan Han   +6 more
wiley   +1 more source

Progression of neurovisceral storage disease with supranuclear ophthalmoplegia following orthotopic liver transplantation [PDF]

, 1986
A 7-year-old girl with progressive ataxia, spasticity, supranuclear ophthalmoplegia, and sea-blue histiocytes in her bone marrow underwent orthotopic liver transplantation for hepatocellular carcinoma.
Bergman, I, Gartner, JC, Iwatsuki, S, Jaffe, R, Malatack, JJ, Shaw, BW, Starzl, TE, Watkins, JB, Zitelli, BJ   +8 more
core  

Immunomodulatory effects of photodynamic therapy for skin cancer: Potential strategies to improve treatment efficacy and tolerability

Photochemistry and Photobiology, EarlyView.
Photodynamic therapy (PDT) is a nonscarring treatment modality that is widely used for skin cancers and early squamous precursor lesions. PDT was previously thought to work primarily by killing cancer cells directly (via apoptosis or necrosis). However, more recent work indicates that a significant mechanism for PDT is the stimulation of anti‐cancer ...
Mark P. Ortenzio, Sanjay Anand, Jeffrey B. Travers, Edward V. Maytin, Craig A. Rohan   +4 more
wiley   +1 more source

Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults

Orphanet Journal of Rare Diseases, 2023
Background Enzyme replacement therapy with olipudase alfa, a recombinant human acid sphingomyelinase (rhASM), is indicated for non-central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in children and adults.
Robin H. Lachmann, George A. Diaz, Melissa P. Wasserstein, Nicole M. Armstrong, Abhimanyu Yarramaneni, Yong Kim, Monica Kumar   +6 more
doaj   +1 more source

Lysosomal acid lipase: at the crossroads of normal and atherogenic cholesterol metabolism [PDF]

, 2015
Unregulated cellular uptake of apolipoprotein B-containing lipoproteins in the arterial intima leads to the formation of foam cells in atherosclerosis. Lysosomal acid lipase (LAL) plays a crucial role in both lipoprotein lipid catabolism and excess lipid
Gordon A. Francis, Joshua A. Dubland
core   +2 more sources

Possible involvement of keratinocyte‐derived microvesicle particles in human photosensitivity disorders

Photochemistry and Photobiology, EarlyView.
In this model, ROS generated by UVB result in PAFR agonists acting upon the PAFR resulting in MVP generation release via the enzyme aSMase. In photosensitivity, there are increased ROS, resulting in augmented PAF agonists and increased MVP release. This process can be blocked by aSMase inhibitors.
Risha Annamraju, Madison S. Owens, Anita Thyagarajan, Danielle A. Corbin, Catherine M. T. Sherwin, Jade Bryant, Garrett W. Fisher, Winston R. Owens, Alycia Ketter, Aadil Umerani, Craig A. Rohan, Michael G. Kemp, Robyn K. Crow, Jeffrey B. Travers   +13 more
wiley   +1 more source