Zobrazeno 1 - 10
of 353
pro vyhledávání: '"B. Rizzo"'
Autor:
Cristian Groza, Carl Schwendinger-Schreck, Warren A. Cheung, Emily G. Farrow, Isabelle Thiffault, Juniper Lake, William B. Rizzo, Gilad Evrony, Tom Curran, Guillaume Bourque, Tomi Pastinen
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-12 (2024)
Abstract Rare DNA alterations that cause heritable diseases are only partially resolvable by clinical next-generation sequencing due to the difficulty of detecting structural variation (SV) in all genomic contexts. Long-read, high fidelity genome seq
Externí odkaz:
https://doaj.org/article/7e47b2f69dc14f2886381cefa394ddd5
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101030- (2024)
Background: Smith-Lemli-Opitz syndrome (SLOS) is an inherited disorder of cholesterol biosynthesis associated with congenital malformations, growth delay, intellectual disability and behavior problems. SLOS is caused by bi-allelic mutations in DHCR7,
Externí odkaz:
https://doaj.org/article/0fea127efea94b38b9c1c3a83f58aab3
Autor:
Warren A. Cheung, Adam F. Johnson, William J. Rowell, Emily Farrow, Richard Hall, Ana S. A. Cohen, John C. Means, Tricia N. Zion, Daniel M. Portik, Christopher T. Saunders, Boryana Koseva, Chengpeng Bi, Tina K. Truong, Carl Schwendinger-Schreck, Byunggil Yoo, Jeffrey J. Johnston, Margaret Gibson, Gilad Evrony, William B. Rizzo, Isabelle Thiffault, Scott T. Younger, Tom Curran, Aaron M. Wenger, Elin Grundberg, Tomi Pastinen
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)
Abstract Long-read HiFi genome sequencing allows for accurate detection and direct phasing of single nucleotide variants, indels, and structural variants. Recent algorithmic development enables simultaneous detection of CpG methylation for analysis o
Externí odkaz:
https://doaj.org/article/10ee8f5178214fda98a06dc46647c12e
Publikováno v:
Aqua, Vol 70, Iss 6, Pp 797-810 (2021)
Faced with water scarcity and its rising costs, it is necessary to use it in a rational way. This study proposes the development of an autonomous system of water monitoring in condominiums (smart houses), through meters that use turbine flow sensors
Externí odkaz:
https://doaj.org/article/bd784c11717743ed9dde294a9d16353a
Publikováno v:
Metabolites, Vol 13, Iss 6, p 682 (2023)
Sjögren–Larsson syndrome (SLS) is a rare inherited neurocutaneous disease characterized by ichthyosis, spastic diplegia or tetraplegia, intellectual disability and a distinctive retinopathy. SLS is caused by bi-allelic mutations in ALDH3A2, which
Externí odkaz:
https://doaj.org/article/12052040b59b4af988af169ba38a3328
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 30, Iss , Pp 100839- (2022)
Sjögren-Larsson syndrome (SLS) is a neurocutaneous disease caused by mutations in ALDH3A2 that result in deficient fatty aldehyde dehydrogenase (FALDH) activity and impaired fatty aldehyde and fatty alcohol oxidation. The pathogenesis of SLS is thou
Externí odkaz:
https://doaj.org/article/d3b8a41fe9b441cf983ce1fa3e5bf914
Autor:
Mousumi Bose, David D. Cuthbertson, Marsha A. Fraser, Jean-Baptiste Roullet, K. Michael Gibson, Dana R. Schules, Kelly M. Gawron, Melissa B. Gamble, Kathryn M. Sacra, Melisa J. Lopez, William B. Rizzo
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100694- (2020)
Zellweger spectrum disorders (ZSD) are rare, debilitating genetic diseases of peroxisome biogenesis that affect multiple organ systems and present with broad clinical heterogeneity. Although many case studies have characterized the multitude of signs
Externí odkaz:
https://doaj.org/article/16075265bf244d0896a01a56d9b2f300
Autor:
Craig V. Baker, Alyssa Cady Keller, Richard Lutz, Karen Eveans, Krystal Baumert, James C. DiPerna, William B. Rizzo
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 2, p 29 (2022)
X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease caused by pathogenic variants in ABCD1 resulting in defective peroxisomal oxidation of very long-chain fatty acids. Most male patients develop adrenal insufficiency and one of two n
Externí odkaz:
https://doaj.org/article/41e28ecea72444f0995ecb5c3c0435e1
Autor:
Sumit Sethi, Mariana Pedrini, Lucas B. Rizzo, Maiara Zeni-Graiff, Caroline Dal Mas, Ana Cláudia Cassinelli, Mariane N. Noto, Elson Asevedo, Quirino Cordeiro, João G. M. Pontes, Antonio J. M. Brasil, Acioly Lacerda, Mirian A. F. Hayashi, Ronei Poppi, Ljubica Tasic, Elisa Brietzke
Publikováno v:
International Journal of Bipolar Disorders, Vol 5, Iss 1, Pp 1-9 (2017)
Abstract Background The objective of this study was to identify molecular alterations in the human blood serum related to bipolar disorder, using nuclear magnetic resonance (NMR) spectroscopy and chemometrics. Methods Metabolomic profiling, employing
Externí odkaz:
https://doaj.org/article/f435593e4414413c9e8b6f410b645912
Autor:
Mousumi Bose, Meena Mahadevan, Dana R. Schules, Rory K. Coleman, Kelly M. Gawron, Melissa B. Gamble, Jean-Baptiste Roullet, K. Michael Gibson, William B. Rizzo
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 19, Iss , Pp - (2019)
Zellweger spectrum disorders (ZSDs) are rare, debilitating genetic diseases of peroxisome biogenesis that require constant management and lifelong care. Nevertheless, the experience of family caregivers for children diagnosed with ZSD is not well und
Externí odkaz:
https://doaj.org/article/ed9cc0958fc24b52bc5874d5023dc305