January 2018 in “Murdoch Research Repository (Murdoch University)” This study identified putative causal mutations for PCOS among first-degree relatives, although functional analysis of a specific GDF9 mutation was unsuccessful.
October 2013 in “The American Journal of Gastroenterology” This case study reports a diagnosis of the rare Cronkhite-Canada syndrome in a 60-year-old man, who showed symptom improvement following treatment with prednisone and azathioprine.
13 citations
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June 2024 in “Frontiers in Genetics” This review examined genetic factors in 46, XY differences/disorders of sex development and found that whole-exome sequencing is more effective than panel sequencing for molecular diagnosis. It identified regional genetic variation and emphasized next-generation sequencing's role in detecting variants related to gonadal and androgen-related genes.
2 citations
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January 2014 in “Case Reports in Clinical Medicine” This case study presents an 81-year-old woman diagnosed with Cronkhite-Canada syndrome and discusses the importance of recognizing its clinical and histopathological features for timely and accurate diagnosis.
September 2024 in “Colloids and Surfaces B Biointerfaces” This study found that cedrol nanoemulsions significantly promote hair follicle regeneration and reduce DHT levels in an androgenic alopecia mouse model, suggesting potential efficacy in AGA treatment.
4 citations
,
January 2018 in “International Journal of Trichology” This case report describes a 4-year-old girl with hypotrichosis and juvenile macular dystrophy, linked to mutations in the cadherin 3 gene affecting P-cadherin expression.
2 citations
,
April 2019 in “Journal of Investigative Dermatology” This study found that overexpression of Gasdermin A3 in mice disrupts the hair follicle stem cell niche and causes hair loss through cell necrosis and abnormal hair cycle progression, without involving immune-mediated mechanisms.
18 citations
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February 2015 in “Acta Crystallographica Section D: Structural Biology” This study reports that Ca 2+ binding alters the dynamics and surface properties of PKD-like domains in Clostridium histolyticum collagenases, enhancing their stability and potentially aiding in collagen-targeting vehicle development.
56 citations
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September 2010 in “Veterinary pathology” This study found that certain C57BL/6 mouse substrains have a genetic vulnerability to skin lesions resembling central centrifugal cicatrical alopecia in humans, potentially worsened by high vitamin A levels.
26 citations
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July 2016 in “PLOS ONE” This study demonstrated that β-catenin signaling in CD133+ dermal papilla cells enhances postnatal hair growth by accelerating the proliferation and differentiation of keratinocytes in the murine hair cycle.
11 citations
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January 2022 in “Experimental Dermatology” This study suggests that patients with severe, extensive central centrifugal cicatricial alopecia may exhibit a distinct gene expression pattern in the lesional scalp, highlighting potential targets for future research on disease severity and therapies.
28 citations
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November 2018 in “American Journal of Medical Genetics Part A” This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
10 citations
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December 2021 in “Frontiers in cell and developmental biology” This study found that GPC1 is a crucial regulator of angiogenesis in human dermal microvascular endothelial cells, indicating its potential as a target for treating alopecia.
November 2024 in “Stem Cell Research & Therapy” A new method improves the isolation of hair follicle cells for better hair growth research.
November 2022 in “Journal of Investigative Dermatology” This study found that autologous γdTregs displayed significant protective effects on alopecia areata-affected human scalp hair follicles in both ex vivo and in vivo settings, suggesting potential for future cell-based therapy.
30 citations
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October 2010 in “Biochemical and biophysical research communications” This study found that the Gsdma3 gene is necessary for normal hair follicle differentiation in mice, with its mutation leading to progressive hair loss and defects in hair structure.
19 citations
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November 1971 in “Clinica Chimica Acta” In this study, the researchers found that the absence of the NFI-C transcription factor delayed the hair growth cycle in mice by affecting key gene expressions and signaling pathways.
4 citations
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December 2022 in “Advanced science” This study found that fatty acid desaturation regulated by SCD1 is crucial for hair growth by maintaining hair follicle stem cell niches, with its absence causing abnormal hair growth in mice.
2 citations
,
June 2012 in “PubMed” This article reports three cases of African American men with central centrifugal cicatricial alopecia, highlighting the need to consider this diagnosis for male patients with vertex hair loss and scalp symptoms.
1 citations
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January 2019 in “Journal of Research in Medical Sciences” This study found that a lower number of GGC sequences in the androgen receptor gene was associated with better clinical response to finasteride in male androgenetic alopecia patients.
February 2024 in “Journal of dermatology” In this case report, a 36-year-old woman with systemic lupus erythematosus and alopecia related to discoid lupus erythematosus showed hair regrowth following treatment with concentrated growth factor, suggesting its potential as a cosmetic therapy for DLE.
September 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a germline variant in PLCD1 as a major risk allele for familial trichilemmal cysts, requiring a subsequent somatic mutation in the same allele for cyst formation.
14 citations
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October 2003 in “Annals of Oncology” In this study, the researchers observed that the severity of capecitabine-induced hand-foot syndrome in advanced gastric cancer patients was not linked to the IVS14+1G→A mutation in the DPYD gene.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
2 citations
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December 2019 in “Cureus” This report describes a case of secondary cutis verticis gyrata due to a cerebriform intradermal nevus, highlighting clinical management and screening guidelines.
April 2016 in “Journal of Investigative Dermatology” This study provides a comprehensive platform to explore stem cell interactions regulating hair follicle growth, revealing key signaling pathways in epithelial-mesenchymal interactions using advanced RNA sequencing and transgenic reporters.
September 2025 in “Cureus” This study found that dermatologists in an urban academic setting most frequently use topical corticosteroids, intralesional corticosteroids, and topical minoxidil for treating central centrifugal cicatricial alopecia, aligning with current literature recommendations on reducing inflammation.
This study found that the novel alcohol-free topical foam CG2001, combining minoxidil and finasteride, was safe and well-tolerated in Chinese males with androgenetic alopecia, with significantly lower systemic exposure to finasteride compared to oral administration, potentially reducing sexual side effects.
26 citations
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August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” This study reports that gastrointestinal problems, such as intractable diarrhea and enterocolitis, can dominate the clinical course of patients with Hoyeraal-Hreidarsson syndrome and may occur before hematological and immunological symptoms.
January 2010 in “Chinese Journal of Aesthetic Medicine” This study found that EGCG may promote hair growth by inducing and prolonging the anagen phase and delaying the catagen phase in an alopecia model of C57BL6 mice.