Results 181 to 190 of about 4,374,159 (298)
Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte +13 more
wiley +1 more source
Computational hybrid framework integrating clinical-mutation profiling and physics-based simulations to predict structural tolerance of Bruton tyrosine kinase (BTK) and sustained ARQ 531 binding. [PDF]
Curr Res Struct BiolKhan A +7 more
europepmc +1 more source
Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki +8 more
wiley +1 more source
Crip2 preserves hematopoietic stem and progenitor cell production through inhibition of Notch signals. [PDF]
DevelopmentAleman AG +12 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To investigate the value of constructing models based on habitat radiomics and pathomics for predicting the risk of progression in high‐grade gliomas. Methods This study conducted a retrospective analysis of preoperative magnetic resonance (MR) images and pathological sections from 72 patients diagnosed with high‐grade gliomas (52 ...
Yuchen Zhu +14 more
wiley +1 more source
Host Community Traits Driving Crimean-Congo Hemorrhagic Fever Virus Maintenance in Iberian Ecosystems. [PDF]
Transbound Emerg DisXavier P +9 more
europepmc +1 more source
Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda +12 more
wiley +1 more source