1 citations
,
May 2024 in “Applied Sciences” This review analyzed current studies on metabolite production from the medicinal fungus Cordyceps militaris, focusing on its fermentation modes and biological functions, and emphasizes the need for modern fermentation processes to enhance industrial production.
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.
44 citations
,
February 2012 in “The journal of neuroscience/The Journal of neuroscience” This study observed that Ptprq mutant mice exhibit significant abnormalities in hair bundle structure and vestibular dysfunction, suggesting similar issues may contribute to hearing loss and vestibular problems in humans with PTPRQ mutations.
24 citations
,
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.
17 citations
,
May 2013 in “Journal of Investigative Dermatology” Mutations in β1 integrins cause embryonic death but have milder effects on skin.
11 citations
,
March 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that hair loss in an Olmsted syndrome mouse model with a Trpv3 mutation was linked to premature keratinocyte maturation, affecting hair follicle structure and function.
1 citations
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April 2025 in “American Journal of Medical Genetics Part C Seminars in Medical Genetics” The researchers reported that repurposing the drug eflornithine may offer a treatment option for Bachmann-Bupp Syndrome, highlighting a potential model for other rare diseases.
August 2025 in “Journal of Cosmetic Dermatology” This study reported significant short-term scalp hair regrowth and increased density in a 4-year-old with Marie Unna hereditary hypotrichosis following topical 5% minoxidil treatment, suggesting its potential benefit in this condition.
January 2018 in “Journal of Investigative Dermatology” This quiz article provides a series of dermatological diagnosis questions based on a Journal of Investigative Dermatology article and includes explanations but reports no original research findings.
March 2005 in “Journal of the American Academy of Dermatology” Recognizing minor skin lesions can help identify serious cancer syndromes.
165 citations
,
December 2004 in “Differentiation” This review discusses the critical role of BMP signaling in the development and regulation of skin and hair follicles and notes that further research could aid therapeutic advances; it presents no new clinical results.
3 citations
,
September 2014 in “SpringerPlus” This study suggests that hair loss was a metabolic adaptation allowing hominids to evolve larger brains by alleviating dietary restrictions on essential amino acids for hair and brain development.
1 citations
,
October 2025 in “Journal of Dermatological Treatment” This case study reported that Dupilumab treatment improved eczema, itch, and hair condition in a girl with Netherton Syndrome, as shown by over 40% improvement in various dermatological scores; however, significant flares of ichthyosis linearis circumflexa persisted.
This study suggests that the growth arrest of nevus melanocytes is not due to oncogene-induced senescence but rather to collective cell interactions, similar to those in normal tissue size regulation.
16 citations
,
July 2021 in “Histopathology” This review discusses recent findings on molecular changes in cutaneous adnexal tumours and reports novel markers and pathways involved, highlighting the diverse oncogenic drivers and tumour suppressor alterations.
245 citations
,
January 1998 in “Genes & Development” This study found that Hoxc13 mutations in mice cause defects in hair, nail, and tongue structures, with the most noticeable issue being brittle hair leading to alopecia.
144 citations
,
March 2013 in “Circulation Research” This study reports that mutations in the SUR2 gene are linked to Cantu syndrome, highlighting the role of KATP channels in cardiovascular health and potential new therapies.
76 citations
,
June 2015 in “Journal of biomedical science” This study demonstrated that dominant mutations in mouse gasdermin A3 disrupt mitochondrial oxidative stress regulation, suggesting a gain-of-function effect on epidermal differentiation.
75 citations
,
April 2000 in “Developmental Dynamics” This study suggests that the structural integrity and physical proximity of Whn's DNA binding and activation domains are crucial for hair keratin gene activation and may explain the nude phenotype.
47 citations
,
April 2012 in “The Plant Journal” This study found that mutations in phosphorylation sites on the PIN3 protein disrupt its phosphorylation and subcellular trafficking, affecting auxin transport and root growth in a cell-type-specific manner.
25 citations
,
April 2015 in “Journal of Investigative Dermatology” This study found that Gsdma3 mutation in mice allows hair follicles to bypass a typical telogen phase and directly enter the anagen phase, suggesting Gsdma3's role in hair cycle transitions by regulating Wnt signaling.
11 citations
,
June 2012 in “Acta histochemica” This study found that Gsdma3 mutations in mice led to thicker skin and longer hair infundibula, possibly by negatively regulating β-catenin expression in the epidermis.
9 citations
,
November 2019 in “Cell calcium” This study found that a mutation causing Stormorken syndrome in mice led to skeletal abnormalities and unusual hair growth, showcasing the STIM1 R304W protein’s role in bone development and cell fate.
5 citations
,
May 2023 in “European Journal of Human Genetics” This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.
6 citations
,
July 2015 in “Journal of Investigative Dermatology” Chicken feather gene mutation helps understand human hair disorders.
67 citations
,
November 2019 in “Nature Communications” This study demonstrated that a c-Kit-CreER-driven mouse model confirms melanocyte stem cells as a genuine source of melanoma, paralleling human melanoma in heterogeneity and gene signatures.
24 citations
,
May 2019 in “PLOS genetics” This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.
21 citations
,
January 2018 in “PLoS Genetics” This study found that certain keratin gene mutations associated with pachyonychia congenita are linked to altered enamel structure and increased risk of dental caries.
8 citations
,
March 2014 in “American Journal of Pathology” This study found that hairless mice with homozygous mutations developed significantly more aggressive basal cell carcinomas and a heightened inflammatory response to UVB exposure compared to their haired littermates.
8 citations
,
June 2012 in “PloS one” This study found that the Plcd3(mNab) mutation in mice worsens the alopecia caused by Plcd1 loss, suggesting synergistic effects between Plcd1 and Plcd3 on hair follicle health.