3 citations
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January 1992 in “Clinical Pediatric Endocrinology” This study observed wide clinical diversity among five patients with the same VDR gene mutation causing vitamin D-dependent rickets type II, suggesting involvement of a nuclear accessory factor and a nongenomic action of the vitamin.
January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” This study identified a new mouse mutation associated with noninflammatory proliferative skin disease and hair abnormalities, drawing parallels to human conditions like Netherton's syndrome and monilethrix.
17 citations
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September 2022 in “Biomaterials Research” This study found that the film-trigger applicator system enhanced drug delivery efficiency and skin penetration of dissolving microneedles compared to traditional patch systems in both lab and animal models.
January 2022 in “Figshare” Melatonin affects when and how certain genes work during the different stages of hair growth in goats.
January 2022 in “Figshare” Melatonin affects when and how certain genes work during the growth of goat hair follicles.
September 2016 in “Journal of Dermatological Science” This study investigated the mechanism responsible for pili torti formation in Björnstad syndrome using a transmission electron microscope, but did not establish a definitive explanation.
35 citations
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August 2006 in “Molecular genetics and metabolism” This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.
February 2020 in “Definitions” 1 citations
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January 2022 in “Annals of Dermatology” In this case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.
January 2013 in “Japan labor review” This study quantified relationships among various occupations in Japan, enabling comparisons with vocational aptitude test results using new numerical criteria developed from analysis of over three million survey panels.
11 citations
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October 2002 in “Genetics” This study mapped a spontaneous mouse hair mutation, "hague," to keratin genes on chromosome 15 but found no gene mutations in hague mice.
7 citations
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April 2015 in “Journal of biological chemistry/The Journal of biological chemistry” This study reports the development of a novel protocol to purify human TRPV3 ion channels, revealing functional properties and differences in ligand interactions, enabling further structural and functional research.
December 2021 in “Molecular genetics and genomics” This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.
The document's conclusion cannot be determined as the content is not available.
The document's conclusion cannot be determined as the content is not available.
50 citations
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June 1993 in “European journal of biochemistry” This article reviews the regulation of gene expression and assembly of intermediate filaments but presents no new findings.
January 2022 in “Figshare” Melatonin affects when and how certain genes work during the different stages of goat hair growth.
January 2022 in “Figshare” Melatonin affects when and how goat hair follicle genes turn on and off during growth cycles.
This paper offers detailed tables of genotypic and phenotypic data on horses, including markers, variants, and haplotypes, but reports no new research 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.
January 2011 in “Journal of Human Genetics” This study found a severe MBTPS2 gene mutation in a Japanese IFAP syndrome patient, suggesting other factors may influence the syndrome's clinical features compared to previously studied patients.
April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This paper provides an auditable companion package for their exploratory re-analysis of miRNA dysregulation and target enrichment in female pattern hair loss cases, focusing on candidate-level results from a public dataset comparison between affected individuals and healthy controls.
90 citations
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October 1998 in “Animal Reproduction Science” This study found that in captive mouflon rams, reproductive and physical maturation, marked by changes in hormone levels and physical attributes, progresses gradually across their life span, with sexual maturity tied closely to physical maturity.
January 2022 in “Figshare” Melatonin affects when and how goat hair follicle genes turn on and off during growth cycles.
15 citations
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January 2018 in “Journal of Cutaneous Medicine and Surgery” This case report presents a 6-year-old boy with both folliculotropic mycosis fungoides and primary follicular mucinosis, providing insights on differentiating the two conditions in pediatric patients.
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.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
January 2025 in “Journal of Case Reports and Scientific Images” In this case report, a 65-year-old woman was diagnosed with folliculotropic mycosis fungoides after experiencing scarring alopecia and intense pruritus, highlighting the importance of early diagnosis due to its aggressive nature.