May 2014 in “JAMA Dermatology” Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
28 citations
,
December 1997 in “Journal of Biological Chemistry” This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.
25 citations
,
February 2019 in “Genomics” This study reports that milk goats exhibit significantly more differentially expressed genes related to hair follicle cycling across different months compared to cashmere goats, especially in December.
20 citations
,
January 2013 in “Cell & Bioscience” This review discusses recent findings on the epigenetic regulation of adult stem cells and cancer stem cells, highlighting shared and distinct features, and reports no new clinical results.
101 citations
,
December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports the successful differentiation of mouse induced pluripotent stem cells into keratinocytes that can regenerate skin and its structures in an in vivo environment.
66 citations
,
May 2002 in “The Plant Journal” This study identified a mutant in Arabidopsis with shorter root hairs due to early growth cessation, implicating the IRE gene in regulating root hair growth duration.
47 citations
,
August 2000 in “Endocrine Reviews” This review discusses idiopathic hirsutism, potential underlying mechanisms, and various therapeutic approaches without providing new clinical results, and emphasizes the need for further research on well-defined patient groups.
17 citations
,
June 2019 in “The journal of immunology/The Journal of immunology” This study identified a regulatory element necessary for Foxn1 expression specifically in mouse thymic epithelial cells, crucial for thymus development but not affecting hair follicles.
12 citations
,
December 2003 in “Gene” This study characterized the Hoxc-13 gene from sheep wool follicles, noting its potential autoregulatory role and potential influence on skin function beyond hair keratin regulation.
11 citations
,
November 1998 in “Journal of dermatological science” This review summarizes studies on knockout mouse models revealing abnormalities in skin and hair follicle development but reports no new experimental results; the authors highlight the utility of these models for understanding hereditary skin disorders.
7 citations
,
August 2017 in “PloS one” This study found that NIH hairless mice exhibit abnormalities in hair growth and immune-related pathways, with Pik3r1 and Pik3r3 identified as key genes for further investigation.
May 2025 in “Journal of Inflammation Research” This study found that NK and CD8+ T cell infiltration may drive inflammation in androgenetic alopecia, suggesting that targeting IL-15 signaling could offer a new therapeutic approach for hair regeneration.
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.
February 2015 in “American journal of medical and biological research” This study found that molecular differences in paracrine factors between balding and non-balding hair follicles may enhance understanding of androgen action in hair disorders and potentially inform better treatments.
19 citations
,
July 2022 in “PNAS Nexus” This study identified a shared gene signature in scarring alopecia subtypes, with increased mast cell presence, suggesting similar treatment approaches may be effective across these hair loss disorders.
4 citations
,
May 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reported that ELL is crucial for maintaining the proliferative capacity of the basal layer in human epidermal keratinocytes by stabilizing RNA polymerase II at the transcription start site.
138 citations
,
June 2004 in “Journal of Investigative Dermatology” This review discusses the regulation of involucrin gene expression, focusing on transcription factors and signaling pathways, and reports no new experimental findings.
129 citations
,
May 2015 in “Cell Stem Cell” This review discusses recent findings on the plasticity and regulation of epithelial stem cells and reports no new experimental results.
7 citations
,
September 2024 in “BMC Genomics” In this study, whole-genome sequencing of Lanping black-boned sheep identified ERBB4 and ROR1 genes as potentially important in their distinctive hyperpigmentation, enhancing understanding of their genetic evolution from Lanping normal sheep.
7 citations
,
July 2008 in “Experimental Dermatology” This study identified molecular elements controlling the expression and stabilization of THH protein in hair follicle cells, revealing key mechanisms that support hair shaft development in mice.
4 citations
,
January 1994 in “Current Opinion in Endocrinology & Diabetes” This review discusses multiple physiological roles of parathyroid hormone-related protein, such as cartilage mineralization and hair follicle regulation, and reports no new experimental results.
3 citations
,
July 2021 in “Life science alliance” This study observed that disrupting the Pnkp gene in adult mice resulted in a premature aging-like phenotype, suggesting PNKP's vital role in maintaining normal growth and survival of certain progenitor cell populations.
May 2017 in “The journal of immunology/The Journal of immunology” This study reported that patients with specific Foxn1 mutations exhibited severe T-cell lymphopenia without the hair and nail abnormalities usually associated with these mutations.
49 citations
,
March 2004 in “Journal of Investigative Dermatology” This study found that the hHa7 gene in hair follicle trichocytes is the first identified to have its expression directly regulated by androgens, suggesting it as a marker for androgen action on hair follicles.
June 2022 in “Authorea (Authorea)” This review discusses various methods for delivering CRISPR/Cas9 for gene editing in vitro and in vivo, highlighting delivery as a major challenge but reports no new experimental results.
5 citations
,
June 2023 in “BMC genomics” This study found that a specific genetic mutation in the Fgf5 gene may contribute to the long-hair trait in Angora rabbits by reducing the binding capacity of the FGF5 protein.
11 citations
,
July 2010 in “European Journal of Dermatology” In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
23 citations
,
June 2010 in “Journal of Investigative Dermatology” This study found that the hair interior defect in AKR/J mice is linked to a mutation in the Soat1 gene, which disrupts SOAT1 protein expression and affects lipid metabolism critical for normal hair formation.
74 citations
,
October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” This study discovered nine human type I hair keratin genes, including a transcribed pseudogene, in a 190 kbp genomic region, revealing three gene subclusters based on sequence homologies.