March 2025 in “American Journal of Medical Genetics Part A” In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.
43 citations
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September 2001 in “Annals of Neurology” This study found that somatic mosaic mutations in the doublecortin gene may cause subcortical band heterotopia in male patients, and molecular analysis using hair roots is a useful detection method.
2 citations
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January 2017 in “Folia biologica” This study identified two single-nucleotide polymorphisms and three haplotypes in the KRTAP7-1 gene across yak, taurine, and zebu cattle, with the BOVIN-KRTAP7-1*A haplotype most prevalent.
29 citations
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June 2015 in “Kidney International” This study developed a kidney-specific knockout mouse model lacking the Flcn gene, which recapitulates human Birt-Hogg-Dubé kidney tumorigenesis and shows that mTOR pathway inhibition with rapamycin can suppress tumor growth.
6 citations
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January 2022 in “Gene” This study identified 53 keratins in the yak genome, predicting diverse phosphorylation sites and subcellular localizations, and highlighted strong gene expression correlations during the yak hair follicle development cycle.
16 citations
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July 2000 in “Dermatologic surgery” This paper contains author contact information and disclosures without reporting new research findings or results.
2 citations
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September 2024 in “Diagnostics” This study proposes a new mathematical model, the Harmonic Mean equation, for precisely quantifying nuclear pleomorphism in breast cancer grading, showing high performance with accuracy, recall, specificity, precision, and F1-score metrics.
September 2025 in “Jurnal Penelitian Pendidikan IPA” In this study, researchers identified two significant genetic polymorphisms in the 3'-UTR of the HSP70 gene in Moa buffalo, which may play an important role in heat adaptation, providing insights for conservation and performance improvement in tropical climates.
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.
2 citations
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April 2024 in “Biotechnology Progress” This study designed a micromold template for creating controlled-sized, multicellular tumor spheroids, finding that HEK-293 cells formed consistent spheroids with high circularity and viability after 7 days, influenced by cell seeding density and treatment conditions.
2 citations
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May 2008 in “Journal of Clinical Oncology” This study found that patients with unresectable melanoma treated with AZD6244 experienced skin reactions, including depigmentation and papulopustular rashes, in patterns similar to those caused by EGFR inhibitors.
December 2023 in “Modern engineering and innovative technologies” This article explores the theoretical foundations of the ChromaLens Precision Mapping system for analyzing hair, but it does not present any new experimental findings.
15 citations
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May 2009 in “Chemical Physics Letters” This study demonstrated that a metric based on rotational echo intensity in 2H magic-angle spinning NMR can derive kinetic information for conformational exchange without complex modelling, achieving activation barriers consistent with prior findings.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study suggests that typical skin lesions in Carney complex may originate from the pro-melanogenic activity of a specific dermal fibroblast population influenced by PKA signaling.
4 citations
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May 1998 in “PubMed” This study found that the Bsk phenotype in mice did not result from a recombination event between specific keratin genes, leaving the gene linked to this mutation unidentified.
1 citations
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June 2011 in “Journal of Genetics” Some human genetic markers work for genetic studies in pig-tailed and stump-tailed macaques, which can help in their conservation.
38 citations
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October 2011 in “Analytical biochemistry” This study used proteomic techniques to analyze human hair proteins, revealing keratin heterogeneity and identifying posttranslational modifications, such as cysteine trioxidation and methylation.
July 2024 in “Journal of Investigative Dermatology” PH-762 shows promise in treating skin cancer by effectively targeting and silencing PD-1 in tumors with minimal side effects.
89 citations
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March 1996 in “Proceedings of the National Academy of Sciences” This study found that homozygous mutant mice with a hypomorphic CD18 mutation developed a chronic inflammatory skin disease resembling human psoriasis, potentially implicating additional genetic factors in disease susceptibility.
July 2022 in “Journal of Investigative Dermatology” This study found that a TYK2 inhibitor, BMS-986202, may restore immune privilege in hair follicles and promote hair regrowth in a humanized alopecia areata mouse model by inhibiting IL-12-mediated signaling.
June 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that MAPK/ERK signaling plays a key role in driving tissue regeneration in spiny mice and suggests potential for reversing fibrosis to promote regeneration in mammals.
3 citations
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December 2013 in “Balkan Journal of Medical Genetics” This case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.
November 2025 in “Cancer Management and Research” This study highlighted Keratin 17's critical role in cancer therapy resistance across several malignancies, involving various signaling pathways, and identified it as a significant biomarker and potential therapeutic target, particularly in reversing resistance.
17 citations
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November 2017 in “PLoS ONE” This study observed dynamic behaviors such as cluster formation, migration, and active proliferation of transplanted bone marrow cells in a mouse model, providing insight into cellular-level changes post-transplantation.
July 2025 in “Journal of Investigative Dermatology” M1 homeopathic complex may help slow melanoma cell growth.
2 citations
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February 2025 in “Advanced Healthcare Materials” This study developed microfluidics-based 3D microtumors to model minimal residual disease in ovarian cancer, highlighting their alignment with patient-derived MRD and response to a fatty acid oxidation inhibitor.
19 citations
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May 2001 in “Endocrinology” This study suggests that Mrp3 may play a role in both wound healing and the hair follicle cycle as a growth factor and/or angiogenesis factor.
6 citations
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January 2016 in “Open journal of regenerative medicine” This study found that macrophages treated with keratin in vitro were more similar to anti-inflammatory M2 macrophages and reduced astrocyte reactivity, potentially limiting secondary inflammatory damage after spinal cord injury.
97 citations
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December 2011 in “New England Journal of Medicine” This article discusses the FDA's decision not to approve 5α-reductase inhibitors for prostate cancer prevention, citing an increase in high-grade tumors but no mortality evidence, and reports no new results.
11 citations
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September 2024 in “Journal of Advanced Research” This study found that PC 3DP models are reliable preclinical tools that could potentially customize treatment strategies and predict patient prognoses by correlating drug sensitivity profiles with clinical outcomes, though larger patient cohort validation is needed to confirm clinical utility.