4 citations
,
March 2018 in “Animal biotechnology” This study suggests that the LAMTOR3 gene may play a role in the development of hair follicles and cashmere growth in Liaoning cashmere goats by influencing the MAPK signaling pathway.
5 citations
,
October 2021 in “American Journal of Medical Genetics Part A” This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.
18 citations
,
July 2016 in “Genetica” This study found that in Liaoning cashmere goats, the BMP4 gene shows increased transcription from the anagen stage to telogen, and higher gene methylation correlates with reduced expression in skin tissue.
April 2012 in “The FASEB Journal” In this study, researchers observed that knocking down the LPA 4 receptor in zebrafish embryos led to vascular and lymph vessel development abnormalities, including edema and decreased heartbeats.
55 citations
,
November 2018 in “American journal of human genetics” This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.
72 citations
,
November 2012 in “PloS one” This study found that dysregulation of the folliculin-p0071 interaction may lead to changes in cell adhesion and signaling, contributing to conditions like emphysema and renal cell carcinoma.
2 citations
,
February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers found that correcting the HGPS mutation with Adenine base editing partially rescued accelerated skin cell differentiation and reduced cell death in patient-derived stem cells.
58 citations
,
February 2013 in “Journal of Biological Chemistry” This study identifies specific molecular components involved in the intracellular trafficking of LGR5, revealing mechanisms that differ from typical GPCR recycling processes.
April 2023 in “Journal of Investigative Dermatology” In this study, a mouse model of scarring alopecia demonstrated significantly reduced CD200R expression in affected skin, which may contribute to immune attacks on hair follicles.
December 2021 in “Figshare” This study found that BBS7 is crucial for maintaining Shh signaling and periodontal ligament homeostasis, with occlusal hypofunction leading to its downregulation and impacting cell migration and angiogenesis.
December 2021 in “Figshare” This study found that BBS7 expression is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, suggesting its downregulation in occlusal hypofunction affects cell migration and angiogenesis.
April 2026 in “Human Genome Variation” This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.
36 citations
,
September 1999 in “Journal of Cell Science” This study suggests that basonuclin may act as a tissue-specific transcription factor for ribosomal RNA genes by interacting with the promoter region necessary for high transcription levels in human keratinocytes.
10 citations
,
June 2021 in “Journal of Investigative Dermatology” GNPTAB gene is crucial for normal hair color in humans and mice.
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
December 2021 in “Figshare” This study suggests that the downregulation of BBS7 in occlusal hypofunctional periodontal ligament impairs Shh signaling, which is essential for maintaining periodontal ligament homeostasis.
September 2025 in “Science Advances” This study reports that PADI4, an enzyme involved in posttranslational protein modifications, regulates progenitor cell transitions in hair follicle development by repressing transcription and interacting with translational and ribosomal processes.
32 citations
,
May 1999 in “Biochemical and Biophysical Research Communications” This study found that the gene BSSP, a serine protease, is predominantly expressed in sebaceous glands and is overexpressed in nude mouse skin.
November 2025 in “The Journal of Immunology” This study observed that in human scalp hair follicles, BTNL2 expression is lower in stressed conditions, which correlates with increased cytotoxic activity by gamma/delta and CD8+ T cells, suggesting a possible role for BTNL2 in controlling immune responses relevant to alopecia areata.
November 2025 in “Journal of Investigative Dermatology” BTNL2 helps protect hair follicles from immune attacks.
32 citations
,
August 1982 in “Journal of the American Academy of Dermatology” This study reports two cases of follicular lichen planus, suggesting that GLPLS and LPP may be variants of this condition based on clinical and immunofluorescent findings.
5 citations
,
May 2023 in “European Journal of Human Genetics” This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.
2 citations
,
September 2025 in “Future Journal of Pharmaceutical Sciences” This study reviewed the potential of Lupeol, a natural triterpenoid, in promoting hair growth and reducing inflammation related to alopecia, revealing promising molecular pathways and favorable pharmacokinetics while suggesting further research to validate these findings.
February 2023 in “Journal of dermatology” This letter reports the first known Japanese case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene.
April 2018 in “Journal of Investigative Dermatology” This study suggests that the Leptin receptor may serve as a novel cell surface marker for dermal papilla cells, potentially aiding future isolation and research efforts in hair follicle regeneration studies.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” This study identified complex regulatory elements and interactions involving the Hr gene and HR protein that are crucial for hair follicle formation and cycling in mammals.
May 2005 in “Molecular Carcinogenesis” This study found that mrp/plf-mRNA expression in murine skin increases in response to different tumor promoters, suggesting its potential as a short-term biomarker for chemical carcinogenesis.
May 2025 in “Acta Dermato Venereologica” The Paxbp1 gene is crucial for healthy hair follicles.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The researchers reported that disrupting the RPGRIP1L gene in mice impaired desmosome function, causing skin blistering, and their findings suggest that PKCβII inhibition could help treat pemphigus.