78 citations
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August 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study reports that the same androgen receptor gene mutation within a family can lead to both complete and partial androgen insensitivity syndromes, suggesting that genetic defects alone may not predict clinical phenotype.
5 citations
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September 2023 in “Clinical Endocrinology” This study suggests revising PCOS diagnostic criteria to integrate the polymenorrhoea subcategory due to shared metabolic dysfunctions with oligomenorrhoea.
100 citations
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November 1997 in “Human Genetics” In this study, researchers found that the prevalent Glu 410 Lys mutation in hHb6 and a new Glu 403 Lys mutation in hHb1 are linked to monilethrix, suggesting a mutational hotspot in type II hair keratins.
14 citations
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December 2010 in “Journal of human genetics” This study identified a severe MBTPS2 gene mutation in a Japanese patient with IFAP syndrome, suggesting other factors may influence the varied clinical severity of the condition.
18 citations
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November 2005 in “European Journal of Cell Biology” Keratin gene clusters in humans and marsupials are similarly organized.
July 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers observed that spontaneously mutated mice with a hair loss phenotype exhibited significant differential expression of genes related to keratinization and hair follicle formation, suggesting these mice could model human alopecia for future research and treatment development.
In this case study, a 38-year-old woman with monilethrix, a hair shaft disorder causing hair fragility, was also diagnosed with androgenetic alopecia, leading the authors to emphasize the complexity in diagnosing and managing such combined hair conditions.
4 citations
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July 2025 in “Annals of the New York Academy of Sciences” This review emphasizes that collaboration between forensic anthropology and molecular anthropology could significantly improve the identification of unknown human remains by creating more comprehensive biological profiles.
This study reported a new method enabling the observation of the full leg regeneration process in the crustacean *Parhyale hawaiensis* over 10 days, capturing cellular resolution while minimizing photodamage, through innovative imaging techniques and computer-assisted cell tracking.
5 citations
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February 2022 in “Molecular genetics & genomic medicine” This study identified genetic variants in the DSG4 gene associated with the autosomal recessive form of monilethrix in Chinese patients, expanding the understanding of its phenotypic spectrum and clinical features.
97 citations
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March 2002 in “Molecular and cellular biology” This study found that mice with a mutant CDP/Cux protein lacking the homeodomain showed severely impaired growth, high postnatal mortality, and reduced fertility, highlighting CDP/Cux's role in developmental regulation.
In this study, researchers identified that the oncomodulin protein lineage, specifically the gene pvalb8, plays a crucial role in the development and function of auditory hair cells in zebrafish by promoting cell proliferation through the Wnt signaling pathway.
24 citations
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January 2018 in “Development” This study found that Frizzled genes Fzd3 and Fzd6 are redundantly involved in controlling hair follicle polarity in mice, but operate through distinct mechanisms, highlighting their complex role in hair orientation.
34 citations
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November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
10 citations
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June 2022 in “Development” This study suggests that distinct chromatin topologies allow different lineage-specific enhancers to regulate Hoxd genes in mouse vibrissae and chicken feather primordia, while conserved regulatory elements maintain transcriptional robustness in the embryonic trunk across species.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.
5 citations
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February 2023 in “Genes” In this study, researchers found that specific miRNAs may regulate cashmere fiber traits in goats by targeting genes related to hair follicle activities, with significant expression differences between breeds.
65 citations
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July 2006 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that overexpression of Hoxc13 in GC13 mouse models affects hair follicle differentiation by interacting with medulla-specific genes, particularly Foxq1, suggesting a regulatory pathway for medulla differentiation.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.
1 citations
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November 2021 in “Biomedicines” This review elaborates on the concept of cutaneous mosaicism and its link to acneiform conditions, but it reports no new clinical results.
8 citations
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September 2011 in “Scanning” This study found that multiphoton microscopy effectively visualizes the microstructure of in vivo mouse skin, offering a clear view of various skin layers and components like corneocytes and collagen fibers.
11 citations
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December 2014 in “The American journal of pathology” This study found that a genetic deletion causing truncated desmoglein 3 protein in mice led to severe pathologies, including cyclic hair loss and immunodeficiency, suggesting possible implications for human desmosome-related diseases.
7 citations
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March 1990 in “Pigment Cell Research” This animal study observed that while topical MBEH and intraperitoneal phenol induced hair graying in eumelanic mice, they had little effect on pheomelanic mice, and amcinonide reduced certain epidermal melanocytes in both.
42 citations
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September 2003 in “Journal of Investigative Dermatology” A missing mK6irs1 gene causes hair loss in mice.
December 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This study revealed that Patched receptors establish a Hedgehog signaling gradient in developing hair follicles, which may influence their formation and potentially offer a diagnostic tool for distinguishing Hedgehog-driven tumors.
10 citations
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July 2022 in “Electronic Journal of Biotechnology” This study found that the methylation level of the IGFBP4 promoter is negatively correlated with mRNA expression and may serve as an epigenetic marker for wool fineness in Super Merino sheep.
18 citations
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July 2019 in “Clinical Endocrinology” The researchers reported that among Mediterranean Sicilian women with PCOS, Phenotype B exhibited the most severe metabolic abnormalities, notably obesity and altered glucose metabolism, whereas Phenotype D showed no such issues.
In this study, Sox13 was identified as a novel marker for early hair follicle development and differentiation in mice, though it appears to be dispensable for overall epidermal and adnexal development.
15 citations
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February 1999 in “The anatomical record” This study found that defective cross-linking in hair cuticles is observable in a minority of mouse hair mutants, suggesting different proteins are involved in cross-linking across cell types.