1 citations
,
September 2021 in “Frontiers in genetics” This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.
March 2026 in “Scientific Data” This study mapped the genome-wide epigenetic landscape in secondary hair follicle stem cells of goats, revealing distinct histone modification signatures associated with cashmere fiber cycling during different stages of hair growth.
October 2024 in “Cosmetics” This review highlights the lack of research on Afro-textured hair, emphasizing the need for better understanding of its genetic traits and molecular structure to develop more effective hair care solutions.
September 2024 in “Journal of Investigative Dermatology” This study developed a deep learning-based tool to quantify individual hair fibers in mice, revealing distinct hair phenotypes linked to hormonal, genetic, and age-related factors, and suggesting its potential for new diagnostic methods through hair analysis.
August 2024 in “Applied Sciences” This review explored the causes of hair graying and evaluated how plant-derived extracts and phytochemicals might alleviate it, noting that certain compounds showed potential in enhancing melanocyte function, reducing oxidative stress, and influencing stress-related pathways based on experimental evidence.
75 citations
,
July 2016 in “New phytologist” This study found that RSL4 in Arabidopsis thaliana regulates genes necessary for root hair elongation by controlling proteins involved in cell signaling, cell wall modification, and secretion.
10 citations
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November 2021 in “International journal of molecular sciences” This review discusses the role of keratin-associated proteins in the growth and characteristics of wool and hair fibres from sheep and goats, and highlights areas for future research, but it presents no new findings.
7 citations
,
October 2022 in “Development Growth & Differentiation” This review summarizes recent insights into the developmental origin and formation of tissue stem cells across various organs, reporting no new experimental results.
1 citations
,
July 2021 in “IntechOpen eBooks” This review discusses unspecific factors involved in the pathogenesis of skin diseases and potential ways cytokeratin changes might alleviate these conditions, but reports no new clinical results.
May 2023 in “Pharmaceuticals” In this in silico study, researchers analyzed nonsynonymous SNPs in the LIPH gene linked to hypotrichosis and identified three potentially harmful variants (W108R, C246S, and H248N) out of 215 total, using sequence- and architecture-based bioinformatics techniques to differentiate between harmful and benign SNPs.
140 citations
,
February 2014 in “Neuron” This study found that the opioid system, particularly via the delta opioid receptor, broadly regulates cutaneous mechanosensation, including touch, and suggests targeting this receptor could alleviate injury-induced mechanical hypersensitivity.
8 citations
,
February 2025 in “Cell Systems” This study developed a genetic toolbox to engineer Cutibacterium acnes for dermal applications, successfully creating a strain that secretes antioxidants to reduce oxidative stress in a UV stress model.
January 2026 in “International Journal of Molecular Sciences” This study found that eyebrow follicles, as opposed to buccal swabs or nails, are the most reliable tissue for post-HSCT germline genetic testing due to lower donor DNA contamination.
September 2025 in “Science Advances” This study reports that PADI4, an enzyme involved in posttranslational protein modifications, regulates progenitor cell transitions in hair follicle development by repressing transcription and interacting with translational and ribosomal processes.
1 citations
,
February 2018 in “InTech eBooks” This paper discusses the need for comprehensive evaluation and management of lean polycystic ovary syndrome patients due to their unique risks, but reports no new results.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, researchers identified novel LMNA mutations in patients with atypical progeroid syndrome, revealing clinical features distinct from other similar disorders, but unrelated to mutant prelamin A accumulation.
11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.
1 citations
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December 2015 in “Balkan Journal of Medical Genetics” This study found no significant difference in the prevalence of CYP21A2 mutations between couples with unexplained fertility problems and healthy controls, but identified an association between the c.290-13A/C>G mutation and clinical issues like hormone deviations and polycystic ovary syndrome.
November 2023 in “Global Medical Genetics” This case report describes a 1-month-old male infant with Netherton syndrome, characterized by severe hypernatremia, skin and scalp issues, highlighting the syndrome's complications, including growth retardation and infection risks in early life.
49 citations
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November 2019 in “Egyptian Journal of Medical Human Genetics” This review discusses the role of CYP gene polymorphisms in exacerbating hyperandrogenism in women with PCOS and reports no clinical results; further validation of this hypothesis is needed.
1 citations
,
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that β-catenin stabilization in specific mammary epithelial lineages leads to cellular changes and the formation of hyperplastic lesions, revealing its role in initiating mammary neoplastic development.
June 2023 in “GSC Advanced Research and Reviews” This review covers the history, symptoms, and treatment progress for Hutchinson-Gilford Progeria Syndrome, noting that while no cure exists, understanding its molecular mechanism may improve future treatment strategies.
20 citations
,
June 2019 in “Experimental Dermatology” This study identified 14 genes affected by copy number variants that may contribute to alopecia areata, including four genes notably involved in autophagy and chromatin remodeling.
5 citations
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September 2022 in “Research Square (Research Square)” This study identified CD201+ fibroblast progenitors in mouse skin that regulate wound healing through differentiation into specialized cell types, with retinoic acid and hypoxia influencing this process.
August 2025 in “Animal Bioscience” In this study, researchers examined the methylation patterns in the skin tissues of Alpine Merino sheep with varying wool fiber diameters, finding that specific methylated RNAs linked to the Wnt, Notch, and TGF-ẞ signaling pathways may influence fiber diameter and potentially improve wool quality.
49 citations
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April 2000 in “Journal of The American Academy of Dermatology” This article discusses the etiology, clinical features, diagnosis, histopathology, and treatment of alopecia areata but reports no new clinical findings; it emphasizes the palliative nature of current treatments.
35 citations
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May 2012 in “Cochrane Database of Systematic Reviews” This review found evidence supporting the effectiveness and safety of topical minoxidil for treating female pattern hair loss, though many included studies were at high risk of bias.
June 2011 in “Expert Review of Dermatology” Researchers discovered potential origins and new treatments for skin cancer, including biomarkers for melanoma and therapies that reduce tumor growth.
1 citations
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May 2023 in “Frontiers in endocrinology” The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.
29 citations
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January 2021 in “Translational Psychiatry” This study found that certain gene sets, including those involved in ligand-gated ion channel signaling and cell adhesion, are associated with Tourette syndrome, suggesting a potential neurobiological basis for the disorder.