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SCI Abstract
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Masquerading as lymphoma: the accelerated phase of Chediak–Higashi syndrome and its novel mutation
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder. The clinical presentation may be fatal if these pat...
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Identification of variants from gene expression data of opioid-addicted patients
NGS (next-generation sequencing) has become a rapid advance in discovering the variants in the genomic data for disease di...
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Screening and investigating the regulatory mechanisms of oxidative stress-related biomarkers in thoracic aortic aneurysms
Excess reactive oxygen species leading to oxidative stress has been identified as a significant factor in cardiovascular d...
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Genotype by environment interaction for productive and reproductive traits in beef cattle using imputed whole genome sequence
Accounting for genotype by environment interaction (GxE) and using genomic information may enhance the prediction accuracy...
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MiR-1976 affects lung squamous cell carcinoma development by targeting NCAPH
Lung squamous cell carcinoma (LUSC) is one of the major subtypes of lung cancer. Non-SMC condensin I complex subunit H (NC...
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Different mRNAs encoding identical proteins: how and why?
Alternative splicing (AS) produces various forms of mRNAs and protein isoforms and contributes to biodiversity. However, d...
Journal Of Applied Genetics
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Are head and neck versus abdominal paragangliomas driven by different single nucleotide events?
Paragangliomas (PGLs) are a heterogeneous group of tumours of the nonepithelial neuroendocrine type, with a significant pe...
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Identification of colorectal cancer molecular subtypes and prognostic features based on basement membrane-related genes
Recent evidence suggests that the basement membrane (BM) plays an important role in the progression of colorectal cancer (...
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Genetic background of Richter transformation of atypical chronic lymphocytic leukemia to diffuse large B-cell lymphoma - a case study
Atypical chronic lymphocytic leukemia (aCLL) is an indolent lymphoproliferative neoplasm derived from CD19-positive and CD...
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Genome-wide association study uncovers the genetic loci for yield-related traits in waxy rice
Improving yield potential is a critical goal for breeders; however, yield-related loci are still less understood in waxy r...
Journal Of Applied Genetics
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An updated molecular toolkit for genomics-assisted breeding of waxy sorghum [ (L.) Moench]
Several mutations of the sorghum [Sorghum bicolor (L.) Moench] GRANULE-BOUND STARCH SYNTHASE (GBSS) gene [Sobic.010G022600...
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Prevalence of intronic repeat expansions in the gene in Polish patients with cerebellar syndrome
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recessively inherited neurodegenerative ...
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NGS sequencing reveals the cause of hearing loss in a group of Polish patients with an isolated, non-DFNB1 hearing loss
The etiology of hearing loss (HL) is heterogeneous. It is estimated that 50–60% of the cases have a genetic backgrou...
Journal Of Applied Genetics
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Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene
Senataxin, an RNA/DNA helicase, is a key protein providing genome stability and one of the best characterized R-loop-bindi...
Journal Of Applied Genetics
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Long non-coding RNA variability in porcine skeletal muscle
Recently, numerous studies including various tissues have been carried out on long non-coding RNAs (lncRNAs), but still, i...
Journal Of Applied Genetics
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Comparing Bayesian models for the genetic evaluation of oocytes and embryo counts in Dairy Gir cattle
Count traits are usually explored in livestock breeding programs, and they usually do not fit into normal distribution, re...
Journal Of Applied Genetics
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HO-CR and HOLL-CR: new forms of winter oilseed rape (Brassica napus L.) with altered fatty acid composition and resistance to selected pathotypes of Plasmodiophora brassicae (clubroot)
The priority in oilseed rape (Brassica napus L.) research and breeding programs worldwide is to combine different features...
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Population identification and genetic diversity analysis of Fritillaria ussuriensis (Fritillaria) based on chloroplast genes atpF and petB
The chloroplast genomes of five Fritillaria ussuriensis materials from different production areas were comparatively analy...
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Genetic dissection of green pod yield in dolichos bean, an orphan vegetable legume, using new molecular markers
In the era of genomic-assisted breeding for crop improvement, developing new molecular markers and validating them for use...
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Splice-altering variant of PJVK gene in a Mauritanian family with non-syndromic hearing impairment
PJVK gene was recently shown to create hypervulnerability to sound in humans and was the first human gene implicated in no...
Journal Of Applied Genetics
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Measurement of the effectiveness of Clonostachys rosea in reducing Fusarium biomass on wheat straw
The survival and growth of plant pathogens on crop residues are key factors facilitating the dynamics of crop diseases. Sp...
Journal Of Applied Genetics
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QTL analysis of sorghum grain traits based on high-density genetic map
Sorghum grain traits are important agronomic traits directly related to yield and are key factors affecting the brewing pr...
Journal Of Applied Genetics
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Comparative genome analysis of endophytic Bacillus amyloliquefaciens MR4: a potential biocontrol agent isolated from wild medicinal plant root tissue
In this investigation, 396 endophytic bacterial strains from six indigenous medicinal plant species within the Xinjiang Tu...
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Unraveling the genetic basis of MODY: insights from next-generation sequencing
Maturity-onset diabetes of the young (MODY) is an uncommon kind of monogenic diabetes. The major characteristics of MODY i...
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Profiling mRNA and miRNA expression variations associated with cyclin-dependent kinase pathway in the low-grade luminal early breast cancer
Luminal A and B subtypes of breast tumors have fluctuated in proliferation rates, which arise from cell cycle dysregulatio...
Journal Of Applied Genetics
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A simple and unified protocol to purify all seven Escherichia coli RNA polymerase sigma factors
RNA polymerase sigma factors are indispensable in the process of bacterial transcription. They are responsible for a given...
Journal Of Applied Genetics
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The analysis of transcriptomic signature of TNBC—searching for the potential RNA-based predictive biomarkers to determine the chemotherapy sensitivity
Neoadjuvant chemotherapy is the foundation treatment for triple-negative breast cancer (TNBC) and frequently results in pa...
Journal Of Applied Genetics
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MicroRNA expression profile of alveolar epithelial cells infected with Aspergillus fumigatus
There are limited number of studies investigating the role of microRNAs (miRNAs) in Aspergillus infections. In this study,...
Journal Of Applied Genetics
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Analysis of nutritional composition in opaque2- and crtRB1-based single- and double-biofortified super sweet corn
Sweet corn has emerged as a favorite food item worldwide owing to its kernel sweetness. However, traditional sweet corn cu...
Journal Of Applied Genetics
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HOXA9 versus HOXB9; particular focus on their controversial role in tumor pathogenesis
The Homeobox (HOX) gene family is essential to regulating cellular processes because it maintains the exact coordination r...
Journal Of Applied Genetics
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