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Interpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3
Published 2025-01-01“…ABSTRACT Background Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia. While approximately 50 genes have been identified, around 25% of PCD patients remain genetically unexplained; elucidating the pathogenicity of specific variants remains a challenge. …”
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Valorization of rice stubble through biodegradation using hydrolytic enzyme-producing Olivibacter oleidegradans CMB10 and Agrobacterium pusense SFMB9
Published 2025-01-01“…Both were Gram-negative, rod-shaped and non-motile. They were phenotypically characterized concerning Bergey's Manual of Determinative Bacteriology followed by molecular characterization by 16S rRNA gene sequencing and CMB10 and SFMB9 were identified as Olivibacter oleidegradans and Agrobacterium pusense, respectively. …”
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523
Identification and prioritization of novel therapeutic candidates against glutamate racemase from Klebsiella pneumoniae.
Published 2025-01-01“…<h4>Background</h4>Klebsiella pneumoniae, a gram-negative bacterium in the Enterobacteriaceae family, is non-motile, encapsulated, and a major cause of nosocomial infections, particularly in intensive care units. …”
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Habitual alcohol consumption associated with reduced semen quality and changes in reproductive hormones; a cross-sectional study among 1221 young Danish men
Published 2014-10-01“…Total alcohol consumption: (1) in the week preceding (habitual/typical) the visit (recent alcohol intake), (2) in a typical week and (3) frequency of ‘binge drinking’ (consuming more than 5 units/day)) in the past 30 days was estimated.Main outcome measures Semen quality (volume, sperm concentration, total sperm count, and percentages of motile and morphologically normal spermatozoa) and serum concentration of reproductive hormones (follicle-stimulating hormone, luteinising hormone, testosterone, sex hormone binding globulin, oestradiol, free testosterone and inhibin B).Results Sperm concentration, total sperm count and percentage of spermatozoa with normal morphology were negatively associated with increasing habitual alcohol intake. …”
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Prevalence of AZFс Y chromosome microdeletions and association with spermatogenesis in Russian men from the general population
Published 2024-11-01“…Age, weight, height, and the volume, concentration, total count, proportion of motile and morphologically normal spermatozoa in the ejaculate were recorded for all participants. …”
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