August 2026 in “Ebers Papyrus” This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.
1 citations
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October 2025 in “Micromachines” This review highlights the potential of integrating point-of-care testing with allele-specific amplification techniques like AS-PCR, AS-LAMP, and AS-RPA to improve the efficiency, accuracy, and affordability of genotyping single nucleotide polymorphisms associated with human diseases.
3 citations
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February 2024 in “Forensic Sciences Research” In this study, researchers found that massively parallel sequencing of mitochondrial DNA (mtDNA) can improve information recovery from forensic samples, with successful full region amplification possible from as few as 2,000 mtDNA copies, albeit with variability in heteroplasmy among hair samples from the same donor.
11 citations
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January 2014 in “Dermatology” This study identified three SPINK5 mutations, including two novel ones, in Israeli patients with Comèl-Netherton syndrome, suggesting recurring mutations that should inform future diagnostic strategies in Israel.
January 2017 in “Journal of Chemical Biological and Physical Sciences” This study found that human hair keratin genes contain a few simple sequence repeats, with one repeat in the exon of KRT31 and additional repeats in introns, varying in length compared to their orthologues.
117 citations
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September 2003 in “Molecular & cellular proteomics” This study demonstrated the development of high-density protein microarrays allowing for antibody binding characterization and serum profiling from patients with autoimmune diseases, suggesting potential for diagnostic marker discovery.
6 citations
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March 2007 in “BioTechniques” This study observed that PCR-based genotyping for cre-loxP mice can lead to errors due to cre-mediated recombination in non-target tissues like tails, affecting the detection of lox alleles.
13 citations
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July 2024 in “BMC Genomics” In this study, researchers found that single SNPs have a small genetic effect on phenotypes in Inner Mongolia cashmere goats, and constructing haplotypes from associated SNPs may uncover complex variations in cashmere traits, aiding genomics and breeding efforts.
1 citations
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August 2023 in “Journal of cutaneous pathology” This case report describes an 8 cm giant pilomatricoma on a 67-year-old man's scalp, revealing distinct transcriptional patterns related to hair follicle factors and keratin through spatial gene expression analysis.
19 citations
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May 2016 in “Biology Direct” This study presents iSiMPRe, a method identifying protein regions enriched in mutations, revealing potential cancer-related genes and enhancing understanding of mutation effects across a wide range of cancer types.
July 2025 in “Genome biology” This study highlighted the effectiveness of HT-scCAT-seq as a tool for understanding gene regulation in single cells, offering insights into embryonic skin development and proposing a framework for exploring regulatory mechanisms in various biological and disease contexts.
16 citations
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April 2022 in “PLoS ONE” This study identified a set of tumour-suppressive microRNAs (miRNAs), termed 'normomiRs', that are highly expressed in normal tissues but low in tumors, with miR-206 and miR-381 showing significant in vitro cancer inhibition, highlighting their potential for miRNA-replacement therapies across multiple cancer types.
106 citations
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March 2013 in “Nature Communications” This study found several microRNA-related genetic variants linked to epithelial ovarian cancer risk, with a notable association at the 17q21.31 region, suggesting potential new susceptibility genes.
10 citations
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November 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study introduced laser particles as a new imaging probe capable of real-time tracking of thousands of individual cells in 3D tumor models, suggesting potential for advanced single-cell analyses.
April 2024 in “Pigment cell & melanoma research” This study explored the diversity of melanocyte stem cell subpopulations in the hair follicles of adult female mice and identified novel groups with distinct immune privilege regulation, suggesting a heterogeneous landscape that future research should consider.
July 2024 in “International Journal of Molecular Sciences” This article proposes using the hallmarks of ageing and dysregulated microRNAs to create a molecular morbidity score that could improve prognostication and clinical trial inclusion for patients with multimorbidity.
28 citations
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August 2019 in “BMC Genetics” This study identified a target relationship between miR-148a, miR-10a, and BMP7, suggesting these microRNAs influence dermal papilla cell proliferation and may regulate hair follicle growth.
305 citations
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March 2008 in “AJP Endocrinology and Metabolism” This article reviews the regulation and roles of spermidine/spermine-N(1)-acetyltransferase (SSAT) in polyamine metabolism and its potential as a target in cancer and other diseases, without reporting new experimental results.
5 citations
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December 2014 in “Molecular cytogenetics” This study identified a 290 Kb microduplication in chromosome 1q22 in a family with members exhibiting neurodevelopmental disorders, suggesting a link between this genetic alteration and the observed neurological symptoms.
52 citations
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February 2021 in “Genomics Proteomics & Bioinformatics” This review explains methods for studying chromatin variation at the single-cell level using scATAC-seq and discusses integrating these measures with other omics platforms but reports no new results.
In this study, researchers found two non-synonymous SNPs in the TERT gene associated with mean wool staple strength in sheep, suggesting TERT as a potential candidate gene for improving wool traits.
29 citations
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October 2011 in “British Journal of Dermatology” This study found that four microRNAs, which were significantly upregulated in balding hair follicle papilla cells, could play a role in the development of male pattern baldness.
August 2023 in “Research Square (Research Square)” This study found that two microRNAs, oar-miR-23b and oar-miR-133, inhibit the development of hair follicles in superfine wool sheep by targeting genes involved in key signaling pathways, suggesting their potential use as molecular markers for breeding fine wool sheep.
51 citations
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December 2006 in “Mammalian Genome”
2 citations
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September 2023 in “Aging” In this study, researchers found that Elastic Net DNA methylation clocks are not accurate for distinguishing between individuals or identifying health markers, but measuring biological "noise" in stable cytosines may serve as a potential biomarker of aging and disease.
August 2016 in “Journal of Investigative Dermatology” This study explored the role of nine specific miRNAs in human hair follicles, revealing significant miRNA/mRNA correlations for miR-24, miR-31, and miR-106a and identifying target genes involved in hair biology.
7 citations
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May 2021 in “EBioMedicine” This study observed that aberrant DNA methylation in murine and human cutaneous squamous cell carcinoma likely contributes to the silencing of tumor suppressor genes, notably affecting the FILIP1L gene.
5 citations
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November 2022 in “Genetics selection evolution” This study found that low-coverage whole-genome sequencing followed by imputation effectively identifies genetic variants associated with wool traits in Angora rabbits, offering a cost-efficient method for genetic research and breeding.
December 2024 in “Turkish Journal of Forensic Medicine” This review examines the role and significance of next-generation sequencing technologies in forensic identification and other forensic applications, but reports no new findings.
This study mapped genome-wide copy number variations in Chinese indigenous fine-wool sheep, providing a valuable genetic resource for researching complex traits and genetic diversity in this species.