Zobrazeno 1 - 10
of 264
pro vyhledávání: '"Pramod K Mistry"'
Autor:
Melanie Zheng, Aaron Hakim, Chigoziri Konkwo, Aimee M. Deaton, Lucas D. Ward, Marina G. Silveira, David N. Assis, AnnMarie Liapakis, Ariel Jaffe, Z. Gordon Jiang, Michael P. Curry, Michelle Lai, Michael H. Cho, Daniel Dykas, Allen Bale, Pramod K. Mistry, Silvia Vilarinho
Publikováno v:
EBioMedicine, Vol 95, Iss , Pp 104747- (2023)
Summary: Background: Whole-exome sequencing (WES) is an effective tool for diagnosis in patients who remain undiagnosed despite a comprehensive clinical work-up. While WES is being used increasingly in pediatrics and oncology, it remains underutilize
Externí odkaz:
https://doaj.org/article/180bc15093c540db85713ec4b61984c6
Autor:
Mohsen Basiri, Mohammad E Ghaffari, Jiapeng Ruan, Vagishwari Murugesan, Nathaniel Kleytman, Glenn Belinsky, Amir Akhavan, Andrew Lischuk, Lilu Guo, Katherine Klinger, Pramod K Mistry
Publikováno v:
eLife, Vol 12 (2023)
Background: A salutary effect of treatments for Gaucher disease (GD) has been a reduction in the incidence of avascular osteonecrosis (AVN). However, there are reports of AVN in patients receiving enzyme replacement therapy (ERT) , and it is not know
Externí odkaz:
https://doaj.org/article/bc28095fe0fd4a5d9a79ffe5c67417b5
Autor:
I. C. Verma, A. El-Beshlawy, A. Tylki-Szymańska, A. Martins, Y.-L. Duan, T. Collin-Histed, M. Schoneveld van der Linde, R. Mansour, V. C. Dũng, Pramod K. Mistry
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Abstract Rare diseases affect > 400 million people globally with a disproportionate burden falling on children, resulting in high morbidity and mortality rates. Affected individuals in some under-resourced countries have limited access to expert care
Externí odkaz:
https://doaj.org/article/e223d1fe6a354bdfbf95799a08027a30
Autor:
Chandra Sekhar Boddupalli, Shiny Nair, Glenn Belinsky, Joseph Gans, Erin Teeple, Tri-Hung Nguyen, Sameet Mehta, Lilu Guo, Martin L Kramer, Jiapeng Ruan, Honggge Wang, Matthew Davison, Dinesh Kumar, DJ Vidyadhara, Bailin Zhang, Katherine Klinger, Pramod K Mistry
Publikováno v:
eLife, Vol 11 (2022)
Background: Neuronopathic Gaucher disease (nGD) is a rare neurodegenerative disorder caused by biallelic mutations in GBA and buildup of glycosphingolipids in lysosomes. Neuronal injury and cell death are prominent pathological features; however, the
Externí odkaz:
https://doaj.org/article/ae7987b768304a36b201d016d7515a85
Autor:
Nathaniel Kleytman, Jiapeng Ruan, Audrey Ruan, Bailin Zhang, Vagishwari Murugesan, Haiqun Lin, Lilu Guo, Katherine Klinger, Pramod K. Mistry
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100798- (2021)
In Gaucher disease (GD), genetic deficiency of acid β-glucosidase leads to accumulation of its substrate glucosylceramide (GlcCer) and glucosylsphingosine (GlcSph). Lipid-laden cells, most prominently seen as macrophages engorged with GlcCer and Glc
Externí odkaz:
https://doaj.org/article/fa3e32d84aef4e20acf65624cb4ce15d
Autor:
Guillermo I. Drelichman, Nicolas Fernández Escobar, Barbara C. Soberon, Nora F. Basack, Joaquin Frabasil, Andrea B. Schenone, Gabriel Aguilar, Maria S. Larroudé, James R. Knight, Dejian Zhao, Jiapeng Ruan, Pramod K. Mistry
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100820- (2021)
Gaucher disease is renowned for extreme phenotypic diversity that does not show consistent genotype/phenotype correlations. In Argentina, a national collaborative group, Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad de Gaucher, GADTE
Externí odkaz:
https://doaj.org/article/98b4f2892f6c4590959c830cdc82cef0
Autor:
Tatiana Raskovalova, Patrick B. Deegan, Pramod K. Mistry, Elena Pavlova, Ruby Yang, Ari Zimran, Juliette Berger, Céline Bourgne, Bruno Pereira, José Labarère, Marc G. Berger
Publikováno v:
Haematologica, Vol 106, Iss 2 (2020)
Chitotriosidase activity and CCL18 concentration are interchangeably used for monitoring Gaucher disease (GD) activity, together with clinical assessment. However, comparative studies of these two biomarkers are scarce and of limited sample size. The
Externí odkaz:
https://doaj.org/article/5ceccf72fd7b4c5e9d7f59aa140f6a96
Autor:
Tatiana Raskovalova, Patrick B. Deegan, Ruby Yang, Elena Pavlova, Jérome Stirnemann, José Labarère, Ari Zimran, Pramod K. Mistry, Marc Berger
Publikováno v:
Systematic Reviews, Vol 6, Iss 1, Pp 1-10 (2017)
Abstract Background Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by deficiency in acid beta-glucosidase. GD exhibits a wide clinical spectrum of disease severity with an unpredictable natural course. Plasma chitotr
Externí odkaz:
https://doaj.org/article/d6d7f288287f40648bb639f0ca3afefa
Autor:
Gregory A, Grabowski, Pramod K, Mistry
Publikováno v:
Molecular Genetics and Metabolism. 137:81-91
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05a48a5b4f0723f995954f59e48c0f94
https://doi.org/10.1016/j.ymgme.2022.07.014
https://doi.org/10.1016/j.ymgme.2022.07.014
Autor:
Gillian C. Goobie, Sandra M. Sirrs, John Yee, John C. English, Celine Bergeron, Roland Nador, John R. Swiston, Pramod K. Mistry, Wendy Paquin, Robert D. Levy
Publikováno v:
Respiratory Medicine Case Reports, Vol 28, Iss , Pp - (2019)
Background: Gaucher disease type 1 (GD1) is a lysosomal storage disease rarely resulting in end stage pulmonary hypertension (PH) and interstitial lung disease. There have only been two previous case reports of patients with GD1 receiving lung transp
Externí odkaz:
https://doaj.org/article/620a7397a45c4f44aa59c6d951c01f96