91 citations
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July 2004 in “Journal of Biological Chemistry” This study found that overexpression of the enzyme SSAT in a mouse model significantly reduced prostate tumor size and progression, suggesting it could be a promising strategy against prostate cancer.
2 citations
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February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study provides the first draft of the male Asiatic lion's whole genome, revealing low genomic diversity and highlighting conservation concerns.
April 2023 in “Journal of Investigative Dermatology” This study found that single-nucleus RNA sequencing identified more relevant keratinocyte clusters and specific markers than single-cell RNA sequencing, offering a new perspective on skin cell differentiation and function.
29 citations
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January 2010 in “Methods in Enzymology” This review discusses five genetic fate mapping methods used to study cell behaviors during development and regeneration, detailing the necessary tools and considerations without reporting new experimental results.
21 citations
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March 2015 in “Neurological Sciences” This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.
This research developed a pig graph pangenome assembly of 27 genomes, revealing the importance of structural variations in adaptation and breed-specific traits, with BTF3 identified as a key gene influencing intramuscular fat and meat quality.
February 2024 in “BMC genomics” This study identified a gene variant in the TRPV3 gene that may explain the suri alpaca phenotype, characterized by longer and less crimped fleece, suggesting this variant's involvement in the development of these hair characteristics compared to the huacaya phenotype.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study generated a transcriptomic map of human hair follicles, identifying compartment-specific gene expression profiles that can aid in developing targeted therapies for hair follicle disorders.
51 citations
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September 2020 in “Nucleic Acids Research” This article introduces signatureSearch, a software package designed for gene expression signature searching and functional enrichment analysis, but reports no new clinical results.
May 2024 in “Animal genetics” The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.
130 citations
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February 2018 in “Journal of Investigative Dermatology” This study found that tofacitinib led to ≥50% hair regrowth in eight out of twelve patients with moderate to severe alopecia areata, suggesting a potential benefit for using JAK inhibitors in treating this condition.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers created a comprehensive transcriptome map of human hair follicle compartments, identifying compartment-specific genes and providing a resource for potential therapeutic interventions.
49 citations
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June 2019 in “eLife” This study reported the discovery of large-scale haplotypes (cenhaps) in human centromere regions, revealing deep genetic diversity, including introgressed Neanderthal and ancient African lineages.
April 2024 in “Institutional Repositories DataBase (IRDB)” This study identified 11 previously unreported ABCA12 variants associated with varying severities of autosomal recessive congenital ichthyoses and expanded the phenotype spectrum of ichthyosis linked to these variants.
44 citations
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May 2023 in “MedComm” This review highlights the potential of PROTAC technology in drug discovery for previously undruggable targets, particularly in cancer therapy, while emphasizing the urgent need to discover more E3 ligase recruiters to optimize targeted protein degradation.
65 citations
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February 2011 in “Molecular cancer therapeutics” This study reported that the novel AKT inhibitor CCT128930 demonstrated significant antitumor activity in human cancer cell lines and xenografts, highlighting its potential as an anticancer therapy.
January 2026 in “British Journal of Dermatology” This study developed a rapid ATP assay that effectively measures microbial populations on the skin and tracks changes after microbiome dysbiosis, with findings suggesting that ethanol-cleansed skin takes longer to recover than tape-stripped skin.
September 2026 in “Apollo Medicine” In this case report, researchers observed that a 35-year-old male with alopecia universalis achieved full regrowth of scalp, eyebrow, and facial hair with oral upadacitinib treatment after previous therapies failed to provide lasting relief.
March 2024 in “Research Square (Research Square)” This study found that a combined genotypic and phenotypic reanalysis increased molecular diagnostic accuracy from 9% to 26% in a cohort of unresolved monogenic diabetes cases, identifying five previously overlooked genetic defects.
1 citations
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September 1986 in “Journal of the Forensic Science Society” This study found that hair root sheaths can be accurately typed for erythrocyte acid phosphatase, adenylate kinase, and adenosine deaminase, consistent with blood typing results from the same donors.
September 2022 in “Medical Mycology” This study found that three protocols for generating Titan cells in vitro from Candida neoformans vary in their kinetics and transcriptomic profiles, pointing to differences which could impact further research.
3 citations
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October 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study introduces scINSIGHT, a method to analyze single-cell RNA sequencing data that outperforms existing techniques in identifying gene expression patterns across different biological conditions.
August 2024 in “Archives of Dermatological Research” Certain genetic variants and pathways are linked to hair loss.
January 2026 in “Frontiers in Molecular Biosciences” This study identified a four-gene loop as a non-invasive biomarker that selectively activates in alopecia areata, providing a precise target for JAK inhibitor treatments.
February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that certain tandem repeats predict darker hair color across diverse ancestry groups and can contribute to a polygenic score for hair color, independent of SNP variation.
2 citations
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November 2024 in “In Silico Pharmacology”
383 citations
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February 2011 in “Nature Reviews Genetics” This review discusses advances in forensic DNA profiling, highlighting new genetic markers and methods for identifying unknown individuals, but reports no new research findings.
14 citations
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July 2001 in “American Journal of Human Genetics” Haplogroup X found in Altaian population supports Amerindian origin.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” This study suggests that the DNMT3B -579 G>T polymorphism may be a genetic risk factor for colorectal cancer in the Azerbaijani population.
May 2014 in “Journal of The American Academy of Dermatology” The project aimed to understand how genetic test results affect patients' actions and feelings in dermatology.