April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” In a keratinocyte-specific knockout mouse model, this study found that deleting GRK2 disrupted hair follicle homeostasis, causing cyst-like structures, abnormal growth patterns, and eventual hair loss, suggesting potential links to immune-mediated alopecias.
3 citations
,
April 2012 in “Cancer research” This study reports that side-population stem cells, distinct from hair follicle stem cells, may play a significant role in the malignant progression of squamous cell carcinomas in mice.
6 citations
,
January 2004 in “DNA Research” This study identified a nonsense mutation in the Sgkl gene as the cause of defective hair growth in a mutant mouse strain, implicating the SGKL signaling pathway in hair development.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
July 2014 in “European Journal of Cancer” p14ARF and p16Ink4a cause hair follicle stem cell aging and dysfunction.
26 citations
,
July 2007 in “Biochemical Pharmacology” This study found that phenyl-imidazole sulfonamide derivatives, particularly ISCK03, inhibited c-kit signaling and promoted depigmentation in various experimental settings, suggesting potential use as skin-whitening agents.
29 citations
,
October 2010 in “Journal of Investigative Dermatology” This research found that activating a KrasG12D mutation in mice led to skin thickening, papillomas, and hair growth issues, suggesting that even rare KRAS mutations can mimic human RAS/MAPK syndrome symptoms.
This study found that selectively inactivating ribonucleotide excision repair in mouse epidermis leads to DNA damage, keratinocyte intraepithelial neoplasia, and squamous cell carcinoma, indicating a potential tumor-promoting mechanism related to compromised genome maintenance.
30 citations
,
December 2011 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that serine 44 in the N-terminal head domain of keratin 17 is phosphorylated in response to various stimuli affecting skin keratinocyte growth, linking K17 up-regulation with growth and stress responses in skin epithelium.
40 citations
,
March 1991 in “Journal of Investigative Dermatology” 59 citations
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March 2003 in “The Lancet” Imatinib can repigment grey hair, while SU11428 can cause temporary hair depigmentation.
30 citations
,
April 2017 in “European Journal of Cell Biology” This study observed that CIP/KIP proteins play a significant role in regulating cell cycle arrest and differentiation in human hair follicles, supporting hair growth and formation in the anagen phase.
50 citations
,
February 2007 in “The Journal of Pathology” This study found a rare germline mutation in the Birt–Hogg–Dubé gene in a Japanese patient with renal cell carcinoma, suggesting distinct biological features and challenging current renal tumor classifications.
44 citations
,
May 1997 in “Journal of Biological Chemistry” This study found that regulatory sequences crucial for inducing K6a expression in response to epidermal injury are located in specific upstream regions of the K6a gene in transgenic mice.
1 citations
,
June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
11 citations
,
March 2014 in “Journal of Investigative Dermatology” In this study, basal cell carcinoma developed in Ptch-deficient mice only after chemical treatment, not skin wounding, suggesting a second unknown event is necessary for tumor formation.
8 citations
,
March 2023 in “International Wound Journal” The researchers reported that several m6A-related genes, particularly IGF2BP3, were differentially expressed in keloid tissue compared to normal skin, indicating potential targets for understanding keloid pathogenesis and treatment.
November 2023 in “Cell Proliferation” This study found that adipose-derived stem cells with DKK1 knocked out using CRISPR/Cas9 promoted hair growth in an alopecia areata model more effectively than untreated stem cells, suggesting DKK1 is a potential therapeutic target for this condition.
In this study, the deletion of Smad4 and PTEN genes in mice was associated with rapid and invasive squamous cell carcinoma formation in the forestomach, modeling human esophageal cancer progression.
79 citations
,
August 1998 in “The Journal of Cell Biology” In a transgenic mouse model, this study found that overexpression of keratin 16 in skin keratinocytes led to hyperkeratosis and increased EGF receptor signaling, altering skin cell behavior and structure.
January 2023 in “Frontiers in bioscience” This study suggests that Artemis, particularly phosphorylated at serine 516, may have roles in hair follicle growth by influencing differentiation, proliferation, apoptosis, and cell cycling.
18 citations
,
August 2015 in “Biochemical and Biophysical Research Communications” This study found that the XEDAR receptor can activate the non-canonical NF-kB pathway involving p100 processing, which is regulated by interactions with TRAF proteins and specific kinases.
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.
March 2025 in “OncoTargets and Therapy” This study found that in circulating tumor cells from non-invasive liquid biopsies, the GG genotype of the CYP3A5 A6986G affects longer disease-free survival in DLBCL patients, highlighting the significance of circulating biomarkers for prognostic evaluation.
June 2023 in “British Journal of Dermatology” This study reports a unique case of coinheritance of BRCA2 and CYLD pathogenic variants in a man with metastatic malignant cylindroma, suggesting that recognizing such genetic profiles in rare conditions can provide new treatment options, including the potential use of therapies targeting BRCA deficiency.
6 citations
,
July 2021 in “Frontiers in Genetics” This study identified a new heterozygous missense variant in CST6 associated with autosomal dominant keratosis follicularis spinulosa decalvans in an Austrian family, affecting epidermal differentiation and hair formation.
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” The researchers reported increased ubiquitination of proteins such as the insulin receptor in CYLD cutaneous syndrome skin tumors, suggesting that CYLD dysfunction may affect protein secretion and signaling processes.
27 citations
,
April 2004 in “Biochemical and Biophysical Research Communications” In this study, two novel clusters of keratin-associated protein genes on human chromosome 11 were analyzed, suggesting their products are crucial for hair formation due to preferential expression in hair roots.
80 citations
,
June 2002 in “Molecular Biology of the Cell” This study found that type II keratins in proliferating epithelial tissues are phosphorylated at a conserved motif during mitosis and stress, impacting keratin solubilization and reorganization.
1 citations
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April 2010 in “Cancer Research” In preclinical studies, a B-Raf inhibitor called WYE-130600 caused dose-related skin effects in dogs and rats, suggesting potential similar responses might occur in humans.