89 citations
,
March 1996 in “Proceedings of the National Academy of Sciences” This study found that homozygous mutant mice with a hypomorphic CD18 mutation developed a chronic inflammatory skin disease resembling human psoriasis, potentially implicating additional genetic factors in disease susceptibility.
19 citations
,
May 2016 in “Biology Direct” This study presents iSiMPRe, a method identifying protein regions enriched in mutations, revealing potential cancer-related genes and enhancing understanding of mutation effects across a wide range of cancer types.
124 citations
,
November 2000 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that human peptidylarginine deiminase type III is the predominant isoform in hair follicles and may modulate structural proteins during hair and hair follicle formation.
May 2023 in “Pharmaceuticals” In this in silico study, researchers analyzed nonsynonymous SNPs in the LIPH gene linked to hypotrichosis and identified three potentially harmful variants (W108R, C246S, and H248N) out of 215 total, using sequence- and architecture-based bioinformatics techniques to differentiate between harmful and benign SNPs.
52 citations
,
July 2011 in “PubMed” This review discusses the diverse roles of the TRPS1 gene in regulating cartilage, kidney, and hair follicle development, highlighting its functions and interactions, but provides no new experimental results.
1 citations
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May 2011 in “Molecular Medicine Reports” This study found no association between the -866G/A polymorphism in the UCP2 gene and the development of polycystic ovary syndrome.
10 citations
,
December 2021 in “Frontiers in Cell and Developmental Biology” This study suggests that BBS7 is crucial for maintaining Sonic hedgehog signaling activity, which is essential for periodontal ligament homeostasis under occlusal hypofunction conditions.
45 citations
,
July 2009 in “Journal of Investigative Dermatology” This study reported significant upregulation and release of S100A4 in psoriatic skin, which may actively contribute to psoriasis pathogenesis.
63 citations
,
November 2009 in “British journal of dermatology/British journal of dermatology, Supplement” This study found that the subtilisin protease Sub3 from Microsporum canis is essential for adherence to the feline epidermis but is not necessary for invading epidermal structures.
38 citations
,
October 2011 in “Analytical biochemistry” This study used proteomic techniques to analyze human hair proteins, revealing keratin heterogeneity and identifying posttranslational modifications, such as cysteine trioxidation and methylation.
36 citations
,
November 2005 in “Forensic Science International” This study developed a new STR typing strategy for forensic casework, enabling the simultaneous analysis of 11 polymorphic systems, particularly useful for limited or degraded DNA samples such as telogen hair roots.
16 citations
,
September 2006 in “Journal of Cutaneous Pathology” This study found that the p63 transcription factor is expressed during rat epidermal development and may serve as a specific marker for keratinocyte progenitor cells.
175 citations
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September 1998 in “British Journal of Dermatology” This study found that mutations in the K17 gene underlie both pachyonychia congenita type 2 and steatocystoma multiplex phenotypes, regardless of the specific mutation involved.
188 citations
,
June 1998 in “Molecular cell” This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.
11 citations
,
January 1992 in “PubMed” In this study, the researchers found distinct patterns of TGF-beta 1 and IGF-II expression in pig fetal subcutaneous tissue, suggesting specific regulatory roles in developing adipocytes and muscle tissue.
1 citations
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October 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that targeting HSP70 can suppress basal cell carcinoma growth, underscoring the importance of tumor microenvironment interactions in cancer progression.
March 2025 in “FEBS Journal” This study found that Epiprofin acts as a negative regulator of parathyroid hormone transcription, with potential implications for controlling PTH production in hyperparathyroidism.
April 2011 in “Cancer Research” In this study, ginsenoside 20(S)-protopanaxadiol-aglycone (PPD) was shown to downregulate androgen receptor expression and inhibit tumor growth in prostate cancer cells.
July 2024 in “Journal of Investigative Dermatology” Substance P helps restore skin thickness and cell renewal when sensory nerves are reduced.
December 2021 in “Figshare” This study found that BBS7 expression is crucial for maintaining Sonic hedgehog signaling and periodontal ligament homeostasis in occlusal hypofunctional conditions.
14 citations
,
January 2005 in “Cell Stress and Chaperones”
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.
December 2013 in “Appetite” This study identified a nonfunctional Itpr3 gene in BTBR mice, attributed to a 12-bp deletion, which likely causes their simultaneous hair loss and taste perception deficits.
July 2026 in “Pediatric Allergy and Immunology”
April 2026 in “Frontiers in Cell and Developmental Biology” This study found that PGRP-S expression in mouse epidermis is specific to certain hair follicle epithelia, depending on the skin region, and can be transiently induced in flank skin hair follicle epithelium after exposure to Staphylococcus aureus, suggesting a role in environmental surveillance.
25 citations
,
June 2017 in “Neuropharmacology” This study observed that overexpressing TSPO in the hippocampal dentate gyrus of mice led to significant anxiolytic and antidepressant-like effects, potentially mediated by increased allopregnanolone synthesis.
April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study examines how conditions like PSSD, Long COVID, and ME/CFS form a "Post-Exposure Syndromes" family, initiated by transient exposures but persisting due to complex state-space dynamics, and suggests improving pharmacovigilance to better address and understand these persistent syndromes.
42 citations
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May 1997 in “The Journal of Biochemistry” In this study, researchers purified and cloned rat peptidylarginine deiminase type III, demonstrating its activity and specific expression in the epidermis and hair follicles.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified novel genetic variants in APOE ε4 non-carriers associated with Alzheimer's disease age-of-onset, linking them to regulatory mechanisms like the unfolded protein response in the pathology of Alzheimer's and other degenerative diseases.
2 citations
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May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.