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Identification of a HOXD13 variant in a Mongolian family with incomplete penetrance syndactyly by exon sequencing
BackgroundSyndactyly (SD) refers to a deformity caused by the fusion and limb differentiation disorder of soft tissues and/or skeletons to varying...
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Pharmacogenomics Informs Cardiovascular Pharmacotherapy
Precision medicine exemplifies the emergence of personalized treatment options which may benefit specific patient populations based upon their...
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High zoonotic potential of Cryptosporidium spp., Giardia duodenalis, and Enterocytozoon bieneusi in wild nonhuman primates from Yunnan Province, China
BackgroundCryptosporidium spp., Giardia duodenalis and Enterocytozoon bieneusi are important zoonotic protists in humans and animals around the...
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Drug Design Models for Human Diseases by Transgenic Animals
The procedures of drug research and preclinical trials are difficult, and a significant majority of medication candidates are unable to receive...
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A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia
Bi-allelic variants in the mitochondrial arginyl-transfer RNA synthetase ( RARS2 ) gene have been involved in early-onset encephalopathies classified...
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Diagnosis of Alloimmune Factor
The success of the treatment of RPL/RIF depends greatly on the diagnosis. Even after doing all the investigations to find out the cause of RPL/RIF,...
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Immunopatological and Genetic Aspects of the Pathogenesisof CNS Lesions in VZV Infection
This review presents data on the characteristics of the varicella-zoster virus (VZV), the clinical manifestations of CNS lesions in acute and chronic...
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The natural history of neurolymphomatosis
BackgroundNeurolymphomatosis is a lymphoid malignancy of the peripheral nervous system and its natural history is poorly understood.
Methods ...
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Approval and therapeutic value of gene therapies in the US and Europe
Gene therapies are a fast-growing area of innovation and hold promise for the treatment of many diseases currently with unmet medical need. To better...
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Clinical and molecular epidemiology of invasive group B Streptococcus infections in adults in a referral center in Korea
Invasive group B Streptococcus (GBS) infections are increasing among adults with underlying health conditions; however, clinical manifestations and...
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Identification of multidrug chemoresistant genes in head and neck squamous cell carcinoma cells
Multidrug resistance renders treatment failure in a large proportion of head and neck squamous cell carcinoma (HNSCC) patients that require...
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Dominance of the zoonotic pathogen Cryptosporidium meleagridis in broiler chickens in Guangdong, China, reveals evidence of cross-transmission
BackgroundCryptosporidium is one of the most prevalent parasites infecting both birds and mammals. To examine the prevalence of Cryptosporidium ...
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Genetic variability of pig and human rotavirus group A isolates from Slovakia
The aim of this work was the genetic ty** of RVA isolates originating from pigs and human patients in Slovakia. Seventy-eight rectal swabs from...
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Identification of rotavirus A strains in small ruminants: first detection of G8P[1] genotypes in sheep in Turkey
Although members of rotavirus group A (RVA) are major enteric pathogens of humans and animals of many species, their impact on the health of small...
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Efficient site-specific integration of large genes in mammalian cells via continuously evolved recombinases and prime editing
Methods for the targeted integration of genes in mammalian genomes suffer from low programmability, low efficiencies or low specificities. Here we...
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Use of Genome Editing Techniques to Produce Transgenic Farm Animals
Recombinant proteins are essential for the treatment and diagnosis of clinical human ailments. The availability and biological activity of...
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Ultrastructural Study of Dopaminergic Axon Terminals
The way in which dopamine is released in the striatum is critical to its function, and a wide range of disorders are characterized by altered...
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Breathing cessation events that compose the apnea–hypopnea index are distinctively associated with the adverse outcomes in Alzheimer’s disease
BackgroundPrevious studies challenge the impact of obstructive sleep apnea (OSA) once patients are diagnosed with Alzheimer’s disease (AD)....
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Molecular characterization and zoonotic potential of Enterocytozoon bieneusi, Giardia duodenalis and Cryptosporidium sp. in farmed masked palm civets (Paguma larvata) in southern China
BackgroundMasked palm civets are known to play an important role in the transmission of some zoonotic pathogens. However, the distribution and...
