Results 121 to 130 of about 214,572 (265)
The Eye of the Chiropterologist: Phenotypic Versus Genotypic Identification of Bats
Ecology and EvolutionBats are a diverse and ecologically important group of mammals that play critical roles in ecosystems. Accurate identification is necessary to comprehend bat species' ecology and behavior to further the conservation of bats. Both phenotypic and genotypic
F. D. Dami +14 more
doaj +1 more source
Clinical and Molecular Landscape of Weiss-Kruszka Syndrome: A Case Report and Literature Review
JCRPEWeiss-Kruszka syndrome (WSKA; OMIM#618619) is a rare condition with multiple congenital anomalies. This study describes a patient with WSKA from Northern China. The patient was a 9.75-year-old boy who presented with growth retardation (growth velocity: 3-
Lele Li, Chunxiu Gong
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Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level
Aging and Cancer, EarlyView.This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley +1 more source
Sensors for Antibiotics Susceptibility Testing—Recent Advances
Advanced Sensor ResearchThe age of antibiotics, which began with the discovery of penicillin in 1929, marks an important period in medical history, as deadly bacterial infections seemed to be a thing of the past.
Oliver Riester +3 more
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RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Journal of Tropical Life SciencePrevious research indicates that the genetic diversity of Rasbora tornieri (Ahl, 1922) from the Musi River population in South Sumatra is notably low compared to populations from Borneo.
Furqan Prawira +5 more
doaj +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Genotypic characteristics of patients and controls.
, 2014 het - heterozygous, hom- homozygous.Genotypic characteristics of patients and controls.
Ondrej Fiala (5660599) +7 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers +19 more
wiley +1 more source