88 citations
,
December 2003 in “Journal of Biological Chemistry” This study identified epiprofin as a highly tissue-specific nuclear protein that promotes cell proliferation, mainly expressed in the developing teeth, hair follicles, and limbs of embryonic mice.
53 citations
,
October 2003 in “Genetics” This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.
November 2009 in “Medical & surgical dermatology” This study found that haploinsufficiency of SPINK5 can lead to Netherton syndrome when a single null mutation combines with homozygous G1258A polymorphisms, suggesting it acts as a genuine mutation affecting LEKTI function.
4 citations
,
October 2021 in “Scientific Reports” This study found that NKIRAS2 expression affects skin tumor suppression and HRAS-driven transformation in mice, indicating its role in carcinogenesis depends on expression level and cellular context.
40 citations
,
December 2010 in “Human Genetics” 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.
10 citations
,
January 2013 in “Journal of skin cancer” In this study, PKC ε transgenic mice exposed to ultraviolet radiation showed increased hair follicle stem cell frequency and altered gene expression compared to wild-type mice, suggesting a potential role in skin cancer susceptibility.
11 citations
,
April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
79 citations
,
January 2002 in “Nucleic Acids Research” This study found that BMP-2 activates Dlx3 gene transcription in murine keratinocytes by binding with Smad1/Smad4, suggesting a mechanism for BMP signaling's role in skin and hair follicle regulation.
184 citations
,
September 2006 in “PLoS Genetics” This study found that loss of Apc due to K14-cre-mediated gene recombination in mice led to aberrant growth in ectodermally derived squamous epithelia, implicating its critical role in specifying epithelial cell fates during embryonic development.
2 citations
,
August 2023 in “Development Genes and Evolution” 2 citations
,
June 2013 in “Journal of Clinical Pathology” This article reviews the role of LMNA gene mutations, particularly in Hutchinson–Gilford progeria syndrome, but does not report new experimental findings.
27 citations
,
February 2020 in “EMBO Reports” This study concluded that MEX3A is critical for maintaining Lgr5+ intestinal stem cells by regulating the PPARγ pathway, impacting intestinal homeostasis during postnatal development in mice.
1 citations
,
April 2012 in “Cancer Research” This study found that overexpression of antizyme in MEK-activated transgenic mice reduced skin tumor development and restored normal differentiation of keratinocyte progenitor cells, highlighting the role of polyamines in keratinocyte biology.
July 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers observed that spontaneously mutated mice with a hair loss phenotype exhibited significant differential expression of genes related to keratinization and hair follicle formation, suggesting these mice could model human alopecia for future research and treatment development.
1 citations
,
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.
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.
92 citations
,
April 2009 in “Journal of Investigative Dermatology” The Celsr1 gene is crucial for normal hair patterning in mice.
141 citations
,
February 1988 in “Molecular and Cellular Biology” This study found that despite strong homology between two K16 genes, only one encoded a functional protein that assembled into keratin filaments in epithelial cells, possibly due to promoter strength differences.
1 citations
,
May 2004 in “Biochemical and Biophysical Research Communications” This study identified nine novel KRTAP5 family genes associated with human hair formation, demonstrating preferential expression in hair roots and suggesting their role in hair development.
57 citations
,
May 2016 in “Matrix Biology” This study found that the absence of laminin α5 in adult mice's epidermal basement membrane led to keratinocyte hyperproliferation and immune cell changes, affecting hair follicle development through altered growth factor expression.
53 citations
,
September 1999 in “The journal of cell biology/The Journal of cell biology” In this study, expressing human K16 in the epidermis of K14 null mice prevented early skin blistering but led to age-related anomalies, indicating K16 and K14 have distinct roles despite their sequence similarity.
September 2025 in “Journal of the American Academy of Dermatology” Reducing SFRP1 can promote hair growth and may help treat hair loss.
1 citations
,
May 2011 in “DOAJ (DOAJ: Directory of Open Access Journals)” In this study, researchers detected all three genotypes associated with the MLPH gene's R199H polymorphism in a population of Czech pointer dogs, which is linked to coat color dilution.
5 citations
,
July 2022 in “Orphanet journal of rare diseases” This study found that RSPO1 mutations in patients with a 46XX disorder of sexual development contribute to impaired skin integrity and increased risk of squamous cell carcinoma in areas subject to friction.
32 citations
,
July 2003 in “Histochemistry and Cell Biology”
February 2020 in “Definitions” This abstract reviews the role of the human KRT 16 wild-type allele in skin and hair development and its association with certain genetic skin disorders, without presenting new findings.
This study found that in early retinal neurogenesis in mice, the transcription factor Lhx2 regulates Sonic Hedgehog signaling by controlling expression of pathway genes like the co-receptors Gas1 and Cdon.
4 citations
,
July 2012 in “Genesis” This study reported that a Megsin-Cre transgene enables genetic manipulation primarily in skin, forestomach, and esophagus tissues, offering a new tool for studying development and diseases in these areas.
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.