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Autor:
Beth I. Solomon, Andrea M. Muñoz, Ninet Sinaii, Hibaaq Mohamed, Nicole M. Farhat, Derek Alexander, An Dang Do, Forbes D. Porter
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Abstract Background Niemann-Pick disease, type C1 (NPC1) is a rare lysosomal disorder with progressive neurological manifestations, historically recognized as a pediatric disease. However, awareness of the adult-onset (AO) subtype is increasing, ofte
Externí odkaz:
https://doaj.org/article/954bb916d1a74534ba1849572fe06fed
Autor:
Sonali Mishra, Pamela Kell, David Scherrer, Dennis J. Dietzen, Charles H. Vite, Elizabeth Berry-Kravis, Cristin Davidson, Stephanie M. Cologna, Forbes D. Porter, Daniel S. Ory, Xuntian Jiang
Publikováno v:
Journal of Lipid Research, Vol 65, Iss 8, Pp 100600- (2024)
Lysosomal function is impaired in Niemann-Pick disease type C1 (NPC1), a rare and inherited neurodegenerative disorder, resulting in late endosomal/lysosomal accumulation of unesterified cholesterol. The precise pathogenic mechanism of NPC1 remains i
Externí odkaz:
https://doaj.org/article/69e323f6f49244688375dc2088920f9e
Autor:
Banghua Yan, Trevor Beck, Junye Chen, Steven Buckner, Xin Jin, Ding Liang, Sirish Uprety, Jingfeng Huang, Lawrence E. Flynn, Likun Wang, Quanhua Liu, Warren D. Porter
Publikováno v:
Remote Sensing, Vol 16, Iss 23, p 4488 (2024)
The Ozone Mapping and Profiler Suites (OMPS) Nadir Mapper (NM) is a grating spectrometer within the OMPS nadir instruments onboard the SNPP, NOAA-20, and NOAA-21 satellites. It is designed to measure Earth radiance and solar irradiance spectra in wav
Externí odkaz:
https://doaj.org/article/1a8a87d740d84399904c3480d40f3615
Publikováno v:
Behavioral Sciences, Vol 14, Iss 9, p 841 (2024)
Understanding the correlates of physical activity behavior is imperative for informing the development of interventions to address the low rates of physical activity guideline adherence among adolescents living in the United States. This cross-sectio
Externí odkaz:
https://doaj.org/article/815b135624874c9ebbf5c6574c2e5c51
Autor:
Erica L. Lyons, Daniel Watson, Mohammad S. Alodadi, Sharie J. Haugabook, Gregory J. Tawa, Fady Hannah-Shmouni, Forbes D. Porter, Jack R. Collins, Elizabeth A. Ottinger, Uma S. Mudunuri
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-18 (2023)
Abstract Background Approximately 4–8% of the world suffers from a rare disease. Rare diseases are often difficult to diagnose, and many do not have approved therapies. Genetic sequencing has the potential to shorten the current diagnostic process,
Externí odkaz:
https://doaj.org/article/e690a548a1d4449da411eb08d584528a
Publikováno v:
Frontiers in Genetics, Vol 14 (2024)
This article analyzes the complete corpus of live-action X-Men movies for their depictions of genetics and otherness. The researchers watched and qualitatively coded all thirteen movies produced by 20th Century Fox that take place in the same shared
Externí odkaz:
https://doaj.org/article/821a784da36943709918c914b1824fa0
Autor:
Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S. Cubit, Judith S. Miller, V. Reid Sutton, Dwight Koeberl, Forbes D. Porter
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101013- (2023)
Externí odkaz:
https://doaj.org/article/7478f096bc7c42d689df92b257b8df3b
Autor:
Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S. Cubit, Judith S. Miller, V. Reid Sutton, Dwight Koeberl, Forbes D. Porter
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101001- (2023)
Background: Creatine transporter deficiency (CTD) is a rare X-linked disorder of creatine transport caused by pathogenic variants in SLC6A8 (Xq28). The disorder is marked by developmental delay, especially speech delay. The biomarkers Aβ40, Aβ42 an
Externí odkaz:
https://doaj.org/article/f3fb51c11aca47f49c9ed8fa1ae4f882
Publikováno v:
The Cryosphere, Vol 17, Pp 789-808 (2023)
Surface-mass-balance (SMB) and firn-densification (FD) models are widely used in altimetry studies as a tool to separate atmospheric-driven from ice-dynamics-driven ice-sheet mass changes and to partition observed volume changes into ice-mass changes
Externí odkaz:
https://doaj.org/article/abc9ddd1e7cd46caa21bf892867c2617