143 citations
,
September 2008 in “Experimental gerontology” This review discusses the diverse roles and characteristics of epidermal and dermal stem cells in skin regeneration and aging, highlighting their potential applications in regenerative medicine and reports no new clinical results.
107 citations
,
August 2012 in “Seminars in Cell & Developmental Biology” This review discusses the role of signaling networks in sebaceous gland development and disorders, highlighting recent insights from mouse models and cell line studies, but reports no new experimental results.
81 citations
,
January 2006 in “Journal of cellular physiology” This study found that the absence of the vitamin D receptor disrupts hair follicle structure during the first catagen in mice, linked to increased expression of the hairless gene.
50 citations
,
February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
50 citations
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March 2001 in “Clinics in Dermatology” Genes and hormones cause hair loss, with four genes contributing equally.
47 citations
,
February 2015 in “European Journal of Clinical Investigation” This review discusses Chrousos syndrome, a rare condition caused by NR 3C1 gene mutations leading to glucocorticoid resistance, and reports no new clinical results; early identification and genetic testing are recommended for diagnosis.
42 citations
,
July 2007 in “Journal of Biological Chemistry” This study found that most pathogenic HR mutants associated with atrichia with papular lesions had abolished corepressor activity due to defective interactions with histone deacetylases.
31 citations
,
April 2004 in “Journal of Investigative Dermatology” This study found that a newly identified gene, mK17n, may explain the lack of nail issues in mK17 null mice by compensating for mK17's function in the nail bed.
25 citations
,
September 2018 in “Molecular Biology of the Cell” This study found that in mice lacking EGFR, elevated Wnt signaling disrupts hair follicle development by affecting cell proliferation and differentiation, revealing a critical role for EGFR in regulating these processes.
23 citations
,
January 2024 in “Journal of Investigative Dermatology” In this study, researchers used advanced RNA sequencing techniques to discover that communication between specific fibroblast and myeloid cell populations may play a role in acne keloidalis, and found that corticosteroid injections could significantly reduce disease activity and gene expression related to these cells.
14 citations
,
April 2011 in “Journal of the American Academy of Dermatology” Researchers found a gene mutation responsible for a rare hair loss condition.
11 citations
,
March 2001 in “Clinics in Dermatology” This article discusses the complexities in diagnosing hair shaft disorders and the potential insights hair microscopy can provide, without reporting new clinical findings.
10 citations
,
April 2019 in “Environmental Science and Pollution Research” In this study, selenium-rich diets enhanced antioxidant activity in aged mice, suggesting potential biological benefits, although further trials are needed to fully understand long-term risks and benefits.
10 citations
,
September 2015 in “PLoS ONE” This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.
8 citations
,
December 2003 in “Experimental Dermatology” In this study, injecting chimeric RNA–DNA oligonucleotides into mice skin caused a temporary mutation in keratin 17, altering hair morphology, but the mutation was transient due to genetic compensation or cell replacement.
3 citations
,
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified loss of function variants in the HR gene as likely causes of the distinct roaning hair coat seen in lykoi cats.
2 citations
,
January 2022 in “The Application of Clinical Genetics” This case report presents the first Russian patient with Meier-Gorlin syndrome 5, expanding clinical understanding through the identification of two novel CDC6 gene variants.
In this study, researchers performed a genome-wide characterization of the Wnt gene family in domestic donkeys, identifying 19 genes and highlighting their evolutionary conservation among mammals, along with tissue-specific expression patterns potentially linked to reproductive regulation and tissue homeostasis.
April 2026 in “Cellular and Molecular Immunology” In a conditional knockout mouse model, this study found that loss of the transcription elongation factor SPT6 in basal keratinocytes led to psoriasis-like skin inflammation and delayed wound healing, suggesting SPT6 plays a crucial role in maintaining epidermal immune quiescence by suppressing proinflammatory NF-κB signaling.
In this study using a mouse model, researchers utilized single-cell RNA sequencing to create a comprehensive cellular atlas of infected versus uninfected wounds, revealing that Enterococcus faecalis infections lead to immunosuppressive changes in skin cells and disrupt normal wound healing processes.
March 2024 in “Agriculture” The researchers reviewed the status, challenges, and future prospects of CRISPR/Cas9-mediated gene-editing technology in livestock breeding, noting its benefits and highlighting concerns about low efficiency in inserting foreign genes and off-target effects.
April 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identifies key transcriptomic features and a necessary dermal niche for eccrine gland development, advancing potential regenerative approaches for these vital skin appendages.
July 2017 in “Contemporary Endocrinology” This article discusses the ongoing care needs for individuals with 21-hydroxylase deficiency due to mutations in the CYP21A2 gene but does not present new clinical findings.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
May 2023 in “Sučasna pedìatrìâ. Ukraïna” In a clinical observation study, researchers documented a case of total alopecia in an 11-year-old child, highlighting a potential link to genetic conditions such as autoimmune polyendocrinopathy candidiasis-ectodermal dystrophy (APECED syndrome) requiring further genetic and serological testing to verify the diagnosis.
16 citations
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July 2021 in “American Journal of Medical Genetics Part A” This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.
5 citations
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November 2021 in “Saudi medical journal” This report describes three Saudi sisters with Woodhouse-Sakati syndrome, who exhibited typical features of the condition along with unusual gynecological anomalies.
1 citations
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July 2022 in “Вопросы современной педиатрии” This review discusses progeria, focusing on its pathogenesis, major symptoms, and management strategies, and includes a clinical case of a girl with the disease confirmed by genetic testing; it reports no new clinical results.
April 2023 in “Journal of Investigative Dermatology” This research reexamined transcriptomic data to study stem and progenitor cell proliferation in psoriasis, finding that the number of committed progenitor cells increased eight-fold in psoriatic skin without altering stem cell numbers, potentially identifying new therapeutic targets.
September 2021 in “International Journal of Biomedicine” This study found that SNPs in the MVK, ARPC1B, and CA2 genes may indicate a genetic predisposition for severe acne related to steroidogenesis.