5 citations
,
January 2021 in “Animal Production Science” In this study, 467 genes with differential expression between fine-wool and coarse-wool sheep, particularly those related to lipid metabolism, were identified as potentially influencing wool fibre diameter.
22 citations
,
July 2015 in “PloS one” This study found that Foxp1, a transcriptional factor, plays a key role in regulating hair follicle stem cell proliferation by modulating oxidative stress and the cell cycle during hair growth phases.
July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” This case report describes a patient with a rare combination of imperfect osteogenesis and Escobar syndrome, highlighting the genetic complexity and clinical manifestations of these conditions.
September 2024 in “Journal of the American Academy of Dermatology” PRO-C22 can help diagnose and monitor the severity of hidradenitis suppurativa.
December 2023 in “Scientific reports” This study assessed three lactic acid bacteria-fermented proteins and found that F-WPI and F-SPI could normalize osteoclastogenesis markers in vitro, while F-SPI enhanced osteoblastogenesis markers, suggesting potential as dietary supplements for osteoporosis prevention, though further research into mechanisms is needed.
May 2018 in “The journal of immunology/The Journal of immunology” This study identified that patients with compound heterozygous mutations in FOXN1 exhibited severe T-cell lymphopenia but retained normal hair and nail development, indicating a distinct clinical phenotype from classic FOXN1 cases.
75 citations
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October 1999 in “Differentiation” This study suggests that mouse keratin 6 isoforms, K6a and K6b, have overlapping but distinct expression profiles, differing notably in their expression in suprabasal cells and response to phorbol esters.
February 1989 in “PubMed” This study found a genetic electrophoretic variant in high-sulfur proteins from human hair, which was more prevalent in the Japanese samples compared to Caucasian samples, suggesting an autosomal inheritance pattern.
1 citations
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September 2023 in “Applied sciences (Basel)” This study found that Ishige sinicola ethanol extract and its butanol fraction can protect against lipopolysaccharide-induced muscle atrophy in C2C12 myotubes through antioxidant and anti-inflammatory activities.
April 2023 in “Journal of Investigative Dermatology” This study found that patients with Stevens-Johnson syndrome and toxic epidermal necrolysis exhibit lower levels and activity of DNase1, impairing NET degradation, and suggests DNase1 administration as a potential treatment.
14 citations
,
January 1984 in “Nutrition reports international”
January 2026 in “Frontiers in Medicine” This study suggests that coexisting LSS and TSPEAR variants might contribute to a complex phenotype of congenital hypotrichosis and ectodermal abnormalities in a child, and highlights the need for cautious interpretation of genotype-phenotype links and the potential value of broader genetic testing.
17 citations
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June 2017 in “Gene” This is the first report of the FOXN1 p.R255X mutation from India, demonstrating the global spread of this genetic mutation previously found only in an Italian community.
44 citations
,
April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” This study found a significant association between reduced FGF13 levels and X-linked congenital generalized hypertrichosis, suggesting FGF13's potential role in hair follicle growth and the hair cycle.
9 citations
,
November 2022 in “Biology” This study identified key genes and pathways related to wool follicle development in coarse wool lambs, suggesting epigenetic factors may influence wool sheep domestication and breeding.
22 citations
,
March 2019 in “The Journal of Cell Biology” This study identified that the Wave complex proteins ABI1 and Wave2 play a crucial role in regulating epidermal shape and growth during skin development, notably influencing SOX9 expression and Wnt signaling pathways.
3 citations
,
August 2022 in “Biochemical Genetics”
June 2026 in “Communications Biology” In this study, researchers found that the cornification process in the nuptial pads of Xenopus frogs involves the expression of the type II hair keratin homolog, krt59, and is regulated by the transcription factor hoxc13, showing similarities to mammalian hair evolution.
13 citations
,
September 2011 in “Archives of dermatology” This case report describes a 3-year-old male with X-linked ichthyosis and associated neurologic abnormalities, identifying an unusual cortical development malformation and suggesting that abnormal hair banding may assist diagnosis.
112 citations
,
August 2012 in “The American Journal of Human Genetics” In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.
2 citations
,
August 2020 in “Scientific reports” This study identified genes potentially involved in the development and differentiation of skin appendages in Atelerix albiventris, noting significant enrichment of immune-related genes in hair-type tissues.
January 2010 in “China Animal Husbandry & Veterinary Medicine” This study suggests that RORα, RORβ, and RORγ mRNA expression in cashmere goat skin is related to different stages of hair follicle development, indicating a possible role in cycled cashmere growth.
87 citations
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March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” This paper discusses X-linked ichthyosis and its genetic causes, focusing on biochemical pathways and their role in epidermal differentiation and barrier function, but it presents no new clinical findings.
28 citations
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December 2020 in “Journal of Ginseng Research” This study found that ginsenoside Rf from Panax ginseng may serve as an effective anti-pigmentation agent by inhibiting the CREB/MITF pathway, reducing melanogenesis in melanocytes and UV-irradiated human skin.
3 citations
,
October 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study introduces scINSIGHT, a method to analyze single-cell RNA sequencing data that outperforms existing techniques in identifying gene expression patterns across different biological conditions.
23 citations
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April 2010 in “Comparative Biochemistry and Physiology Part C Toxicology & Pharmacology” This study found that exposure to sex steroid biosynthesis inhibitors increases the expression of piRNA pathway genes in frog larvae, suggesting these genes play a role in gonadal sex differentiation.
4 citations
,
June 2021 in “Dermatology” This study validated the HS 3D-SeboSkin model as a reliable tool for preclinical research, effectively preserving the structure and biomarker expression of lesional and perilesional HS skin ex vivo.
March 2023 in “Authorea (Authorea)” This case report describes a 5-year-old Sudanese boy with systemic-onset juvenile idiopathic arthritis who also exhibited unique cutaneous manifestations and peripheral eosinophilia alongside tinea capitis.
70 citations
,
April 2014 in “Annales d'endocrinologie” This review discusses the pathways of androgen biosynthesis and reports no new findings, highlighting the need to understand the interplay between the classic and backdoor pathways.
April 2005 in “Journal of Investigative Dermatology” This compilation reviews multiple dermatologic studies, reporting findings such as the lack of a psoriasis-susceptibility allele in cluster 17, and highlighting a mouse model for studying hair follicle formation, among others.