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Characterization and expression patterns of the -like genes in maize
Characterization and expression patterns of the -like genes in maize
The nonexpressor of pathogenesis-related 1 (NPR1) is the salicylic acid (SA) receptor, which plays an important regulatory...
Deletion of noncoding exons 1–2 causes Smith–Magenis syndrome
Deletion of noncoding exons 1–2 causes Smith–Magenis syndrome
Smith–Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay and a typical behavi...
Mapping and gene cloning of a wheat mutant with dwarf and compacted spikes
Mapping and gene cloning of a wheat mutant with dwarf and compacted spikes
Plant height and spikelet density are two important traits for wheat (Triticum aestivum L.) yield. The development of whea...
Analysis of whole-exome data of nonobese NAFLD patients from India reveals association with new markers on functionally relevant genes and pathways
Analysis of whole-exome data of nonobese NAFLD patients from India reveals association with new markers on functionally relevant genes and pathways
Nonalcoholic fatty liver disease (NAFLD) occurs in a significant number of nonobese individuals, especially in Asian popul...
promoter mutation: a familial study on congenital amegakaryocytic thrombocytopenia
promoter mutation: a familial study on congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome, which is characterize...
is involved in yield-related traits and cell proliferation of maize
is involved in yield-related traits and cell proliferation of maize
Heterotrimeric G-proteins are multifunctional modulators that participate in a wide range of growth and developmental proc...
NGLY1-CDDG: report of two cases from India and brief review of literature
NGLY1-CDDG: report of two cases from India and brief review of literature
N-glycanase1 (NGLY1) deficiency, an autosomal recessive disorder identified a decade ago, is categorized as a congenital d...
Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population
Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population
Primary microcephaly (MCPH) is an autosomal recessive condition of reduced head circumference due to a small cerebral cort...
On the reversibility of RNA deamination versus RNA methylation: exploring the proximate and ultimate causes
On the reversibility of RNA deamination versus RNA methylation: exploring the proximate and ultimate causes
RNA modifications play a crucial role in regulating gene expression, splicing, decoding, translation, and degradation. Amo...
Characteristics of the MAPK gene family in and role in response to fungal pathogen infection
Characteristics of the MAPK gene family in and role in response to fungal pathogen infection
The stems of Zizania latifolia, an important vegetable in China, are targeted by the pathogen Ustilago esculenta, triggeri...
Mitochondrial genome sequence of Bleeker, 1849 (Syngnathiformes, Syngnathidae) and its phylogenetic placement
Mitochondrial genome sequence of Bleeker, 1849 (Syngnathiformes, Syngnathidae) and its phylogenetic placement
The family Syngnathidae includes seahorses, sea dragons, and pipefishes. We sequenced the complete mitochondrial DNA (mtDN...
Comparative analysis of the mitochondrial genome of whip scorpion, (Butler, 1872) (Arachnida: Thelyphonidae) with phylogenetic implication
Comparative analysis of the mitochondrial genome of whip scorpion, (Butler, 1872) (Arachnida: Thelyphonidae) with phylogenetic implication
The complete mitogenome of the common Chinese whip scorpion, Typopeltis sinensis (Butler, 1872) was sequenced and compared...
A novel partial mRNA-derived duplication of the gene identified in NGS carrier screening
A novel partial mRNA-derived duplication of the gene identified in NGS carrier screening
Duplications in the dystrophin gene (DMD) represent a common genetic variation associated with the onset of Duchenne and B...
Complete mitochondrial DNA genome of the Indian Chhattisgarh duck and its phylogenetic analysis
Complete mitochondrial DNA genome of the Indian Chhattisgarh duck and its phylogenetic analysis
The Chhattisgarh duck (Anas platyrhynchos L., 1758) is a native Indian germplasm that provides crucial support for the loc...
Feasibility of machine learning analysis for the identification of patients with possible primary ciliary dyskinesia
Feasibility of machine learning analysis for the identification of patients with possible primary ciliary dyskinesia
Significant diagnostic delays are common in primary ciliary dyskinesia (PCD), a rare disease that is significantly underdi...
Lomitapide response in a cohort of patients with homozygous familial hypercholesterolemia and the potential influence of MTTP gene variants
Lomitapide response in a cohort of patients with homozygous familial hypercholesterolemia and the potential influence of MTTP gene variants
Homozygous familial hypercholesterolemia (HoFH) is a rare inherited disorder of lipoprotein metabolism caused by pathogeni...
Recent advances in mucopolysaccharidosis IVA treatment
Recent advances in mucopolysaccharidosis IVA treatment
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare lysosomal storage disorder caused by mutations in the GA...
Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia
Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia
Initial Whole Exome Sequencing frequently fails to resolve rare disease cases. Bioinformatic reanalysis of existing genomi...
Chromatin organization and behavior in -transformed mouse fibroblasts
Chromatin organization and behavior in -transformed mouse fibroblasts
In higher eukaryotic cells, a string of nucleosomes, where long genomic DNA is wrapped around core histones, are rather ir...
Interspecific cytogenomic comparison reveals a potential chromosomal centromeric marker in frog species
Interspecific cytogenomic comparison reveals a potential chromosomal centromeric marker in frog species
Among the repetitive elements, satellite DNA (SatDNA) emerges as extensive arrays of highly similar tandemly repeated unit...
Novel centromeric repetitive DNA elements reveal karyotype dynamics in polyploid sainfoin ()
Novel centromeric repetitive DNA elements reveal karyotype dynamics in polyploid sainfoin ()
Polyploidy is a common feature in eukaryotes with one of paramount consequences leading to better environmental adaptation...
Genome location, evolution and centromeric contribution of satellite DNAs shared between the two closely related species ( group, cluster)
Genome location, evolution and centromeric contribution of satellite DNAs shared between the two closely related species ( group, cluster)
Satellite DNAs are highly repetitive, tandemly arranged sequences, typically making up large portions (> 20%)...
Towards identification of a holocentromere marker in the lepidopteran model
Towards identification of a holocentromere marker in the lepidopteran model
Some insects have holocentric chromosomes, with multiple kinetochores rather than a single centromere. They also lack the ...
Tetraploidy in normal tissues and diseases: mechanisms and consequences
Tetraploidy in normal tissues and diseases: mechanisms and consequences
Tetraploidisation plays a crucial role in evolution, development, stress adaptation, and disease, but its beneficial or pa...
Variable organization of repeats and hidden diversity of XY sex chromosomes in Pentatomidae true Bugs (Hemiptera) revealed through comparative genomic hybridization
Variable organization of repeats and hidden diversity of XY sex chromosomes in Pentatomidae true Bugs (Hemiptera) revealed through comparative genomic hybridization
Sex chromosomes have independently evolved in various species, displaying unique evolutionary patterns, including differen...
Regulatory effects of lncRNA PVT1 on transcriptome in human breast cancer MDA-MB-231 cell line determined by in silico analyses
Regulatory effects of lncRNA PVT1 on transcriptome in human breast cancer MDA-MB-231 cell line determined by in silico analyses
Overexpression or knockdown of a specific gene is usually helpful in understanding its underlying molecular mechanism. PVT...
RAD18 promotes cell malignant behaviors of esophageal squamous cell carcinoma by modulating ATM/STAT3/PD-L1
RAD18 promotes cell malignant behaviors of esophageal squamous cell carcinoma by modulating ATM/STAT3/PD-L1
Esophageal cancer (EC) is still a difficult problem in medicine, depriving many patients of their lives every year. RAD18 ...
A tribute to 40 years of CENP-A & centromere pioneer Bill Earnshaw
A tribute to 40 years of CENP-A & centromere pioneer Bill Earnshaw
Bergmann JH, Rodríguez MG, Martins NMC, Kimura H, Kelly DA, Masumoto H, Larionov V, Jansen LET, Earnshaw WC (2011) Epigene...
A tribute to ,
A tribute to ,
Chromosoma, now in its 86th year, remains as respected a journal as it ever was. Yet,...
A multicenter study reveals a novel pathogenic splice-site founder variant in OTOF
A multicenter study reveals a novel pathogenic splice-site founder variant in OTOF
Over 200 pathogenic variants in the OTOF gene encoding otoferlin are associated with sensorineural hearing loss (SNHL) and...
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