9 citations
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February 2018 in “The Journal of Dermatology” This study identified a novel splice site mutation in the LIPH gene associated with autosomal recessive woolly hair, contributing to understanding the genetic basis of this condition.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that BBS7 is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, with changes in gene expression observed in occlusal hypofunctional PDL.
This study found that individuals with homozygous loss-of-function mutations in PLAAT3 experience a novel type of partial lipodystrophy linked to defects in white adipose tissue differentiation and function.
January 2020 in “Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)” This study found that Polycomb Repressive Complex 1 is crucial for maintaining stem cell identity across different lineages, but its loss results in varied transcriptional outcomes depending on the tissue context.
18 citations
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May 2006 in “Journal of Cutaneous Medicine and Surgery” This study reports the first known case of linear lichen planopilaris following Blaschko's lines in a nonfacial region.
November 2020 in “Journal of animal science/Journal of animal science ... and ASAS reference compendium” This study identified several genetic variants associated with cattle hair coat length, which may help breed more heat-tolerant animals by facilitating efficient heat loss.
72 citations
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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.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this case study, a 26-year-old female with PLEC mutations and features of muscular dystrophy and myasthenia gravis showed significant improvement in symptoms following steroid treatment.
March 2025 in “American Journal of Medical Genetics Part A” In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.
December 2021 in “Figshare” This study found that BBS7 downregulation in occlusal hypofunctional PDL affects Sonic hedgehog signaling activity, impacting PDL homeostasis.
11 citations
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January 2018 in “Jaypee's international journal of clinical pediatric dentistry” This report describes the clinical presentation of Papillon-Lefèvre syndrome in two brothers and reviews the related literature, without providing new clinical outcomes.
12 citations
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June 2020 in “Frontiers in Cell and Developmental Biology” This study found that the PP2A-B55α regulatory subunit is crucial for ectodermal development in mice, with knockout embryos displaying severe neural and epidermal defects and failing to survive to birth.
101 citations
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November 2019 in “The Plant Cell” This study found that the zinc finger protein AtZP1 inhibits root hair initiation and elongation in Arabidopsis by suppressing key transcription factors involved in root hair development.
July 2026 in “Frontiers in Endocrinology” This study observed that beef cattle with certain prolactin receptor gene mutations, known as slick mutations, demonstrated improved post-weaning growth and temperature regulation in a hot, humid climate compared to other genotypes, suggesting genotype influences growth efficiency and heat tolerance.
March 2024 in “Journal of cosmetic dermatology” This study found that platelet-rich plasma may be more effective and satisfactory than topical clobetasol for treating lichen planopilaris over six months.
This study found that Plakophilin 1 regulates innate immune responses in keratinocytes by controlling RNA helicase activity, balancing inflammation during epidermal immune challenges.
25 citations
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November 2017 in “Molecular Medicine Reports” This study found that PlncRNA‑1 may enhance the proliferation and differentiation of hair follicle stem cells by upregulating the TGF‑β1-mediated Wnt/β-catenin signaling pathway.
146 citations
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June 2012 in “PLoS ONE” This study observed that quiescent label-retaining cells in the intestine, identified by Paneth cell markers, can switch to a proliferative state and activate Bmi1 expression during tissue injury, contributing to tissue regeneration.
10 citations
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December 2008 in “Molecular Carcinogenesis” This study found that overexpressing the PML protein in transgenic mice decreased skin tumor occurrence and delayed their progression, highlighting PML's potential role in influencing keratinocyte growth and differentiation.
31 citations
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October 2010 in “Progress in lipid research” This review discusses the role of LPA(3) in embryo implantation and its genetic connection with prostaglandin signaling, but reports no new clinical results.
March 2025 in “International Journal of Molecular Sciences” This study analyzed proteomic changes in Jiangnan cashmere goats' secondary hair follicles and found that the PLIN2 gene significantly impacts hair follicle growth cycles by affecting dermal papilla cell proliferation, offering insights into breeding strategies to enhance cashmere yield.
1 citations
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September 2020 in “Journal of dermatology” This study identified a novel mutation and confirmed a previous mutation in the LIPH gene in a woman with autosomal recessive woolly hair, expanding the mutation spectrum for this condition.
December 2021 in “Figshare” This study found that downregulation of BBS7 in periodontal ligament cells was associated with reduced Sonic hedgehog signaling, which plays a crucial role in maintaining PDL homeostasis.
September 2024 in “Genes” This study found that overexpressing CRABP1 in dermal papilla cells promotes their proliferation and influences key genes in the Wnt/β-catenin signaling pathway, which may offer insights into mechanisms controlling hair follicle development.
1 citations
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April 2016 in “Journal of lipid research” This study suggests that lipin-1 plays a crucial role in keratinocyte differentiation by modulating protein kinase C activity through diacylglycerol levels, with implications for skin biology.
3 citations
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February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” This study suggests that hair loss disorders like Marie Unna hereditary hypotrichosis may result from mutations that disrupt post-transcriptional regulation of HR protein expression by PCPB2 interacting with Hr mRNA.
April 2016 in “Journal of Investigative Dermatology” This study reported that the absence of Lsh in skin led to significant epidermal hyperplasia and altered gene expression, suggesting its crucial role in regulating epidermal proliferation, differentiation, and wound healing.
31 citations
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September 2011 in “European journal of pharmaceutics and biopharmaceutics” This study found that biodegradable PLA particles released fluorochromes in a time-dependent manner on human skin, with BP-PLA particles releasing rapidly and DiAsp-PLA particles providing sustained release and accumulation in hair follicles.
1 citations
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February 2025 in “Journal of Dairy Science” In this study, researchers found that the SLICK1 allele in cattle may alter local immune regulation, hair growth, and tissue remodeling, as indicated by differential gene expression pathways associated with immune and inflammatory responses in slick vs. nonslick Holsteins.
July 2025 in “Frontiers in Medicine” This study identified compound heterozygous mutations, c.1101del and c.736 T > A, in the LIPH gene responsible for causing autosomal recessive woolly hair in a child, with c.1101del being a novel frameshift mutation.