41 citations
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June 2010 in “Journal of Investigative Dermatology” This study suggests that new cells are incorporated into the dermal papilla during the early anagen phase of the hair cycle, which may influence hair growth consistency and follicle size changes.
2 citations
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February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study provides the first draft of the male Asiatic lion's whole genome, revealing low genomic diversity and highlighting conservation concerns.
April 2018 in “Journal of Investigative Dermatology” In this study, the authors identified a role for hair follicles in regulating the formation and sympathetic innervation of arrector pili muscles, influencing hair follicle stem cell activity and potentially explaining hair loss associated with beta-blockers and androgenic alopecia.
256 citations
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October 2013 in “Proceedings of the National Academy of Sciences of the United States of America” This study found that altering cell culture conditions to form three-dimensional papilla spheroids can restore the ability of human dermal papilla cells to induce hair growth in adult skin.
31 citations
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March 2013 in “Gene” This study sequenced and analyzed the goat skin transcriptome, revealing genes involved in signal transduction and cell communication that are differentially expressed during hair growth phases, providing insights for Cashmere goat breeding.
3 citations
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May 2024 in “BMC Medical Genomics” This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.
9 citations
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May 2014 in “BMC medical genetics” In this case report, the authors suggest that a novel enhancer element's translocation near the TRPS1 gene may contribute to the TRPS phenotype, expanding understanding of the syndrome's genetic basis.
April 2018 in “Journal of Investigative Dermatology” This study found that arrector pili muscles formed by Sonic Hedgehog signaling play a critical role in maintaining sympathetic nerve connections to hair follicle stem cells, influencing hair regeneration, with implications for hair loss treatments.
7 citations
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February 2022 in “Stem cell reviews and reports” This review discusses the heterogeneity and plasticity of epithelial stem cells in skin homeostasis, wound healing, and tumorigenesis, reporting no new results but emphasizing the need for further exploration of key regulatory mechanisms.
16 citations
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July 2016 in “Journal of Dermatological Science” This study found that stable regeneration of pigmented hairs in mice after severe wounding can occur when the wound is made during the anagen stage, influenced by Wnt and Kit signaling pathways.
In this study, researchers developed de novo designed hetero-bifunctional proteins as an alternative approach for targeted protein degradation, successfully targeting BCL-xL for degradation in cells and inducing apoptosis, which may expand the range of addressable E3 ligases and disease targets.
30 citations
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January 2009 in “Nuclear Receptor Signaling” This study identified the Hairless (Hr) gene-encoded protein as a corepressor that plays a crucial role in maintaining skin and hair by regulating epithelial stem cell differentiation and gene expression via chromatin remodeling, which may impact both development and disease.
January 2006 in “Advances in developmental biology” This review discusses the roles of the hairless (HR) protein as a corepressor, particularly its impact on RORα-mediated transcriptional repression, and reports no new experimental findings.
October 2023 in “Psychiatry research. Case reports” In this study, researchers observed that twins with a novel de novo nonsense variant in HRAS exhibited distinctive features, including neuropsychiatric symptoms, potentially indicating a wider clinical spectrum for conditions known as RASopathies.
5 citations
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December 2021 in “Journal of Investigative Dermatology” This study observed that Hedgehog signaling in reticular and papillary fibroblast lineages plays different roles in wound repair and de novo hair follicle formation.
2 citations
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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.
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that hair-type tissues in hedgehogs show higher enrichment of immune-related genes compared to spine-type tissues, suggesting that spines evolved to protect against injuries and infections.
This study introduced ElixirSeeker2, a computational framework for designing anti-aging peptides, and found that some newly identified peptides significantly delayed cellular senescence and enhanced cellular and locomotor functions in aged Caenorhabditis elegans.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” This case report describes a 15-year-old girl with features of Becker naevus syndrome, highlighting the importance of DNA analysis from skin to confirm the diagnosis after 9 years of symptoms.
10 citations
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October 2017 in “Pediatric neurology” This case report suggests that poor hair and nail growth in children with autism spectrum disorder and developmental delay may indicate a biotin-responsive condition, as biotin and acetazolamide therapy improved symptoms and school performance in the reported patient.
47 citations
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September 2016 in “Reviews in endocrine and metabolic disorders” This review discusses the steroidogenic properties of human skin and suggests that impaired steroidogenesis may be linked to conditions like acne, rosacea, atopic dermatitis, and androgenic alopecia, but reports no new clinical results.
32 citations
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November 1998 in “Journal of Biological Chemistry” This study found that the unique functions of keratin 16 are likely determined by its tail domain, challenging the previous hypothesis about the role of the helix 1B subdomain.
2 citations
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January 2024 in “Revista Paulista de Pediatria” In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.
94 citations
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April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” This study describes the first case of female pseudohermaphroditism due to a novel homozygous glucocorticoid receptor gene mutation, indicating possible pre- and postnatal virilization in affected females.
181 citations
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January 2009 in “Nature Genetics” In this study, researchers linked defects in U2HR, an inhibitory region in the HR gene, to Marie Unna hereditary hypotrichosis, suggesting a mechanism for controlling hair growth and addressing hair loss.
148 citations
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May 2012 in “The American Journal of Human Genetics” This study identified heterozygous mutations in the ABCC9 gene as the genetic basis of Cantú syndrome, suggesting the syndrome as a new member of potassium channelopathies.
January 2023 in “Revista Paulista de Pediatria” This case study reported the first diagnosis of IFAP syndrome in Brazil with molecular investigation, identifying a rare MBTPS2 gene variant and expanding the known mutational spectrum associated with the condition.
9 citations
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April 2020 in “Journal of dermatology” This case report describes a Thai male with TRPS1 who exhibited unique and unreported features such as hypoplastic mandibular condyles, double mental foramina, and distinctive hair abnormalities.
3 citations
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February 2011 in “Journal of Biomedical Research/Journal of biomedical research” This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.
January 2022 in “Revista Dermatológica Centro Uraga” This article reviews two cases of monilethrix in siblings, detailing their clinical and dermatoscopic characteristics, but reports no new findings.