Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
wiley +1 more source
The m6Am methyltransferase PCIF1 promotes osteogenic differentiation of mesenchymal stem cells through stabilization of Wnt-related transcripts. [PDF]
Song W +13 more
europepmc +1 more source
Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky +8 more
wiley +1 more source
An integrated transcriptomic and metabolomic atlas reveals the temporal regulation of benzylisoquinoline alkaloid biosynthesis and transport in developing opium poppy capsules. [PDF]
Wang Q +7 more
europepmc +1 more source
ABSTRACT Background Myasthenia gravis (MG) is an autoimmune disorder characterized by antibody‐mediated complement activation. Efgartigimod, a neonatal Fc receptor (FcRn) antagonist, is approved for treating generalized MG (gMG). However, its modulatory effects on upstream innate and adaptive immune cells remain largely unexplored.
Lei Jin +11 more
wiley +1 more source
Preclinical activity of brincidofovir in peripheral T-cell and NK/T-cell lymphoma. [PDF]
Chan JY +18 more
europepmc +1 more source
Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron +5 more
wiley +1 more source
Beyond Clavulanic Acid biosynthesis: Exploring the broad regulatory impact of BldD in Streptomyces clavuligerus ATCC 27064. [PDF]
Patiño LF +2 more
europepmc +1 more source
ABSTRACT Objective The Gold Coast criteria permit diagnosis of amyotrophic lateral sclerosis (ALS) even without upper motor neuron (UMN) signs. However, whether ALS patients with UMN signs (ALSwUMN) and those without (ALSwoUMN) share similar characteristics and prognoses remains unclear.
Hee‐Jae Jung +7 more
wiley +1 more source
LDB1 represses fetal hemoglobin expression by enhancing BCL11A transcription. [PDF]
Park SW +9 more
europepmc +1 more source

