Results 121 to 130 of about 726,285 (296)
FEBS Open Bio, EarlyView.Amino acids sequence of two different proteins with the same sequence (chameleon sequence—black boxes) represent in 3D structure of the proteins different secondary structures: HHHH—helical and BBB—Beta‐structural. The chains folded in water environment adopt different III‐order structures in which the chameleon fragments appear to adopt similar status
Irena Roterman +4 more
wiley +1 more source
Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene [PDF]
, 2018 Purpose: To identify the genetic defect, and to phenotype, three consanguineous Tunisian families presenting with early-onset retinal degeneration (EORD). Methods: All accessible family members were included.
Ambresin, Aude +8 more
core
MiR‐513a promotes human erythroid differentiation by modulating c‐Jun
FEBS Open Bio, EarlyView.During early human erythropoiesis, miR‐513a promoted erythroid differentiation in primary human CD34+ hematopoietic stem‐progenitor cells and human TF‐1 erythroleukemic cells by indirectly decreasing c‐Jun and phospho‐c‐Jun expression, which are associated with increased GATA1 expression.
MinJung Kim +11 more
wiley +1 more source
Aging and Cancer, EarlyView.This study aimed to evaluate the prognostic value of ELN2017 in predicting survival outcomes and to assess the impact of clinical and molecular factors such as age, FLT3 and NPM1 mutations, and allogeneic hematopoietic stem cell transplantation (allo‐HSCT).
Mobina Shrestha +4 more
wiley +1 more source
Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Rett syndrome (RTT) is a devastating neurodevelopmental disorder with developmental regression affecting motor, sensory, and cognitive functions. Sensory disruptions contribute to the complex behavioral and cognitive difficulties and represent an important target for therapeutic interventions.
Alex Joseph Simon +12 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela +13 more
wiley +1 more source
Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease
Annals of Clinical and Translational Neurology, EarlyView.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
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu +11 more
wiley +1 more source
Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia
Annals of Clinical and Translational Neurology, EarlyView.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
Spotting the Pattern: A Review on White Coat Color in the Domestic Horse
AnimalsTraits such as shape, size, and color often influence the economic and sentimental value of a horse. Around the world, horses are bred and prized for the colors and markings that make their unique coat patterns stand out from the crowd.
Aiden McFadden +5 more
doaj +1 more source