Results 81 to 90 of about 151,128 (279)

SPG4 and Dementia: Expanding the Clinical Spectrum

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza   +19 more
wiley   +1 more source

A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture. [PDF]

open access: yes, 2004
Recent studies have identified a small number of genomic rearrangements that occur frequently in the general population. Bioinformatics tools are now available for systematic genome-wide surveys of higher-order structures predisposing to such common ...
Freimer, Nelson B   +2 more
core   +2 more sources

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni   +19 more
wiley   +1 more source

Influence of Elytral Color Pattern, Size, and Sex of Harmonia axyridis (Coleoptera, Coccinellidae) on Parasite Prevalence and Intensity of Hesperomyces virescens (Ascomycota, Laboulbeniales)

open access: yesInsects, 2018
Harmonia axyridis is an invasive ladybird (Coleoptera, Coccinellidae) with the potential to outcompete native ladybird species in its invasive distribution area.
Danny Haelewaters   +3 more
doaj   +1 more source

Identification of shell-color-related microRNAs in the Manila clam Ruditapes philippinarum using high-throughput sequencing of small RNA transcriptomes

open access: yesScientific Reports, 2021
Shell-color polymorphism is a common phenomenon in several mollusk species and has been associated with thermal capacity, developmental stability, shell strength, and immunity.
Jianfeng Ding   +5 more
doaj   +1 more source

Artificial Intelligence in Systemic Sclerosis: Clinical applications, challenges, and future directions

open access: yesArthritis Care &Research, Accepted Article.
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos   +2 more
wiley   +1 more source

Analysis of protein kinase C (HcPKC) gene expression and single-nucleotide polymorphisms related to inner shell color traits in Hyriopsis cumingii

open access: yesBMC Genomic Data, 2022
Background Protein kinase C (PKC) is a multifunctional serine and PKC can phosphorylate serine residues in the cytoplasmic domain of tyrosinase, thereby regulating the activity of tyrosinase.
Mengying Zhang   +5 more
doaj   +1 more source

Genome-wide patterns of polymorphism in an inbred line of the African malaria mosquito Anopheles gambiae. [PDF]

open access: yes, 2014
Anopheles gambiae is a major mosquito vector of malaria in Africa. Although increased use of insecticide-based vector control tools has decreased malaria transmission, elimination is likely to require novel genetic control strategies.
Gamez, Stephanie   +2 more
core  

Replicators in Fine-grained Environment: Adaptation and Polymorphism

open access: yes, 2009
Selection in a time-periodic environment is modeled via the two-player replicator dynamics. For sufficiently fast environmental changes, this is reduced to a multi-player replicator dynamics in a constant environment.
Armen E. Allahverdyan   +10 more
core   +1 more source

Dynamic mimicry in an Indo-Malayan octopus [PDF]

open access: yes, 2001
During research dives in Indonesia (Sulawesi and Bali), we filmed a distinctive long-armed octopus, which is new to science. Diving over 24 h periods revealed that the 'mimic octopus' emerges during daylight hours to forage on sand substrates in full ...
Charlesworth D.   +3 more
core   +4 more sources

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