29 citations
,
December 2004 in “Developmental biology” In this study, forced expression of the transcription factor cDermo-1 in chicken dermis led to the formation of ectopic feather buds and enhanced feather growth, demonstrating its role in initiating skin appendage development.
1 citations
,
November 2023 in “iScience” In this study, researchers found that disrupting desmoglein 3 signaling in a mouse model of pemphigus vulgaris activates normally quiescent hair follicle stem cells, compromising their multipotency but prompting a regenerative response that restores stem cell function and structures.
13 citations
,
November 2013 in “Journal of Endocrinology/Journal of endocrinology” This study found that the vitamin D receptor, but not its ligand, regulates genes involved in hair cycle progression, suggesting a role in integrating hormone signaling pathways for hair and epidermal functions.
October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that mechanical disruption of the desmosomal cadherin Dsg3 in hair follicle stem cells activates them from quiescence, highlighting its role as a key regulator of stem cell quiescence and epithelial niche integrity.
4 citations
,
May 2006 in “médecine/sciences” This study suggests that the hairless gene encodes a nuclear factor important for hair follicle integrity, and its absence leads to hair follicle loss and defects in tissue development.
28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.
78 citations
,
October 2007 in “Journal of Investigative Dermatology” Delta1 is crucial for controlling skin cell growth and preventing tumors in mice.
17 citations
,
May 2021 in “Journal of Cell Science” In this study, the researchers discovered that specific polyamine depletion enhances stemness in hair follicle stem cells through a mechanism independent of mRNA translation.
11 citations
,
December 2009 in “Cell stem cell” This study demonstrates that Sox2+ dermal papilla fibroblasts exhibit properties of adult stem cells, including the ability to induce hair follicle formation and contribute to dermal regeneration.
11 citations
,
January 1997 in “Journal of Dermatological Science” This study identified a human sequence likely coding for a new ultra-high sulphur protein, which may aid in understanding hair differentiation and the molecular basis of human trichothiodystrophy.
118 citations
,
October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
January 2016 in “Texas ScholarWorks (Texas Digital Library)” This study suggests that the DORN1 receptor may play a role in eATP-induced changes in stomatal aperture in Arabidopsis thaliana, but not in the eADP signaling pathway.
9 citations
,
November 2013 in “Journal of Investigative Dermatology” This study found that transgenic mice with keratinocyte-specific overexpression of CtBP1 exhibited abnormal hair follicle development, suggesting CtBP1 may play a pathogenic role in hair morphogenesis.
6 citations
,
June 2021 in “Developmental biology” This study found that dermal EZH2 plays a crucial role in controlling fibroblast differentiation by regulating Wnt/β-catenin and retinoic acid signaling during skin development.
4 citations
,
May 2025 in “Cells” This study found that miR-370-3p targets SMAD4 to inhibit cell proliferation, promote apoptosis, and affect the cell cycle in follicular papilla cells, demonstrating differences in their expression in sheep tissues, which may impact hair follicle development.
13 citations
,
August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” This study describes a genetic mutation in the desmoglein 4 gene linked to localized autosomal recessive hypotrichosis in Pakistani families, showing similarities to animal models with similar hair loss conditions.
July 2025 in “Journal of Investigative Dermatology” Secreted inhibitors of Wnt and IGF signaling control hair and tooth development, creating species-specific patterns.
5 citations
,
December 2014 in “Molecular cytogenetics” This study identified a 290 Kb microduplication in chromosome 1q22 in a family with members exhibiting neurodevelopmental disorders, suggesting a link between this genetic alteration and the observed neurological symptoms.
11 citations
,
March 2021 in “Molecular Carcinogenesis” This study found that deleting the transcription factor Twist1 in keratinocytes significantly reduced UVB-induced skin carcinogenesis in mice, suggesting a potential target for preventing cutaneous squamous cell carcinoma.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
15 citations
,
January 1991 in “Mammalian Genome”
February 2025 in “Journal of Investigative Dermatology” The ZIP13 variant is linked to abnormal hair quality.
9 citations
,
November 2007 in “Blood” This study found that a mutation in the Tmprss6 gene disrupts hepcidin regulation, leading to iron deficiency and alopecia in mice, highlighting TMPRSS6's vital role in iron absorption.
2 citations
,
July 2017 in “Oncology Letters” This study found that ablating cyclin D3 in a Ras-dependent skin carcinogenesis model increased apoptosis in hair follicles, reducing papilloma development but potentially facilitating malignant progression when CDK6 is overexpressed.
15 citations
,
June 2019 in “Biochemical Journal” This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.
117 citations
,
August 1999 in “Nature Genetics” 44 citations
,
August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
July 2022 in “Journal of Investigative Dermatology” This study found that Dkk4-knockout mice exhibited disrupted hair follicle patterning, including a lack of the first wave of hair follicles in the lateral back skin.
4 citations
,
December 2021 in “Journal of clinical laboratory analysis” This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.