April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that the loss of SETDB1 in epidermal keratinocytes led to altered chromatin states, increased ERV expression, and activation of immune responses, while inhibiting these effects with certain antiviral drugs reduced skin inflammation and hair loss in a mouse model.
2 citations
,
May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study describes a family where a TP63 mutation was linked with prominent alopecia and mild ectodermal dysplasia features.
39 citations
,
December 2012 in “The American Journal of Human Genetics” This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.
12 citations
,
May 2003 in “Journal of dermatological science” This study found that the heat shock cognate protein Hsc70 was differentially expressed by dihydrotestosterone treatment in SV40-transformed dermal papilla cells, suggesting its involvement in androgen action on these cells.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the mutant hairless rhino bald protein in mice interacts with the vitamin D receptor but cannot repress its transactivation and shows abnormal cellular localization.
This study found that the proteins Par3, mInsc, and Gαi3 cooperate to regulate LGN polarization and promote perpendicular cell divisions during murine epidermal morphogenesis.
April 2018 in “Journal of Investigative Dermatology” This study found that deleting all three Desmoglein 1 genes in mice led to impaired skin barrier function, disorganized epidermis, and postnatal lethality, highlighting Dsg1's essential role in epidermal development and maintenance.
September 2022 in “European Journal of Dermatology” This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.
56 citations
,
July 2004 in “Mechanisms of Development” Pax9 is crucial for proper tongue surface development and preventing skin-like changes.
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.
15 citations
,
November 2012 in “Archives of Ophthalmology” This description of dystrophy hypotrichosis associated with juvenile macular dystrophy provides an overview of this rare disorder characterized by short hair from birth and progressive loss of central vision but reports no new findings.
November 2023 in “Вопросы современной педиатрии” This study reported that genetic testing is crucial for accurately diagnosing hypotrichosis, especially in cases with subtle symptoms or coexisting severe atopic dermatitis, as demonstrated in a young girl with a DSG4 gene mutation.
June 1967 in “Journal of Cellular Physiology” This study developed an in vitro 3D organoid model using dermal papilla spheroids and found that it enhances growth factor expression and extracellular matrix production, which could aid drug screening for hair regeneration.
April 2017 in “Journal of Investigative Dermatology” This study identified the dermal sheath as a key component of the hair follicle niche, essential for outer root sheath regression during the hair cycle, highlighting its importance in hair follicle support and regulation.
9 citations
,
July 2022 in “Cell reports” This study found that Sox2 within dermal papilla cells in the hair follicle regulates hair pigmentation, influencing the type and production of melanin.
1 citations
,
October 2023 in “BMC Genomics” This study identified miRNAs within the Dlk1-Gtl2 region on chromosome 18 as potential epigenetic regulators of lamb fur traits, with possible implications for the PI3K-AKT signaling pathway.
January 2013 in “Tampere University Institutional Repository (Tampere University)” This study observed that Tudor-SN protein may play a significant role in the immune system and that polyamines can influence hair growth in a mouse model.
January 2009 in “China Practical Medicine” This study found that several genes, including capping protein, palladin, VEGF, and HSPC-related clones, might cooperatively influence the aggregation, proliferation, and cycle control of dermal papilla cells, potentially affecting hair follicle behavior.
117 citations
,
April 2008 in “Developmental biology” This study identified that Eda-A1 unexpectedly induces placode inhibitors dkk4 and lrp4, indicating the importance of tightly regulated signaling for proper ectodermal organ development.
76 citations
,
January 1998 in “Mammalian Genome” 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.
November 1997 in “Open Archive (Karolinska Institutet)” This research observed that mutations in the PTCH gene are common in both sporadic and hereditary basal cell cancers, suggesting a critical role of the PTCH signaling pathway in skin tumor development.
24 citations
,
December 2013 in “Archives of Dermatological Research” 1 citations
,
July 2025 in “Scientific Reports” This study found that CD133-positive dermal papilla cells significantly enhanced hair growth in mice compared to CD133-negative cells, suggesting their potential for improving human hair follicle engineering.
28 citations
,
July 2008 in “Developmental Biology” This study found that the loss of Smad4 in keratinocytes reduces Dsg4 expression via disrupted BMP signaling, contributing to hair follicle degeneration and alopecia.
7 citations
,
August 2020 in “Animal biotechnology” This study found that lncRNA-599547 positively regulates the expression of the Wnt10b gene by interacting with miR-15b-5p, enhancing the inductive property of dermal papilla cells in cashmere goats.
119 citations
,
November 2016 in “American journal of human genetics” This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Prss53-mutated rabbits exhibited curved hair and skeletal dyskinesia, suggesting a link between Prss53 loss and these traits, potentially involving disrupted calcium metabolism.
This study found that the NuMA protein's microtubule-binding domain is essential for proper spindle orientation and differentiation in keratinocytes, affecting skin and hair development in mice.
6 citations
,
January 2019 in “Biochemical and Biophysical Research Communications” This study suggests that Sox13, although dispensable for epidermal development, serves as a marker for early hair follicle development in Sox13-LacZ knock-in mice.