34 citations
,
January 2004 in “Genomics” In this study, researchers identified a cluster of hair-specific keratin-associated protein genes within the 21q22.3 region, revealing a novel transcription mechanism involving TSPEAR/C21orf29 that may bypass typical transcriptional termination sites.
1 citations
,
May 2024 in “Journal of Dermatological Science” In this study, KC-AD-MSCs were found to increase COL7 deposition and anchoring fibril formation at the dermal-epidermal junction in a RDEB mouse model, suggesting potential for improving skin integrity in recessive dystrophic epidermolysis bullosa patients.
22 citations
,
July 1998 in “Journal of Investigative Dermatology” This study identified and characterized a gene called 4C32, which is expressed in the periderm of embryonic mouse skin and has a structure similar to keratin-associated proteins.
1 citations
,
April 2017 in “Journal of Investigative Dermatology” This proof-of-concept study reported that a new, ultra-fast, one-step immunohistochemistry method improved the interpretation of Mohs surgery slides, particularly for poorly differentiated tumors.
25 citations
,
August 2020 in “Experimental eye research/Experimental Eye Research” This review discusses cornea-specific keratin expression patterns in human and mouse development and reports no new experimental results; it highlights the need for investigating keratin mutations' role in pathology.
51 citations
,
December 2006 in “Mammalian Genome”
February 2020 in “Biophysical journal” This study confirms that zebrafish engineered with Cantú Syndrome mutations in ABCC9 and KCNJ8 genes exhibit gain-of-function characteristics in their cardiovascular KATP channels, similar to mammalian counterparts.
October 2021 in “Journal of Investigative Dermatology” This study reported that Dkk4-knockout mice showed disrupted hair follicle patterning, suggesting a WNT-DKK axis may influence regional specificities in hair follicle induction related to androgenetic alopecia.
56 citations
,
July 2004 in “Mechanisms of Development” Pax9 is crucial for proper tongue surface development and preventing skin-like changes.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that overexpression of β-catenin in bipotent Schwann-cell precursors promotes melanocyte development in limb areas by inducing MITF and repressing FoxD3, especially during a specific developmental timeframe.
April 2019 in “Journal of Investigative Dermatology” This study demonstrated that gene-corrected 3D skin constructs from RDEB patient-derived iPSCs, grafted onto immunocompetent mice, showed normal collagen VII expression after two months.
2 citations
,
January 2017 in “Folia biologica” This study identified two single-nucleotide polymorphisms and three haplotypes in the KRTAP7-1 gene across yak, taurine, and zebu cattle, with the BOVIN-KRTAP7-1*A haplotype most prevalent.
April 2023 in “Cancer research” This study suggests that KRTAP2-3 may serve as a novel biomarker to identify cells in the polyaneuploid cancer cell state, which is linked to therapy resistance and poor prognosis in prostate cancer.
114 citations
,
May 2001 in “Development” This study found that overexpressing the Hoxc13 gene in mice causes hair loss and a skin condition similar to ichthyosis, identifying several gene targets that may regulate hair growth.
35 citations
,
January 2013 in “The Journal of experimental medicine/The journal of experimental medicine” This study found that deleting the CD98hc protein in mouse skin impairs wound healing and homeostasis, resembling aging effects, due to disrupted integrin signaling pathways.
43 citations
,
October 2006 in “Journal of Cell Science” In this study, researchers found that contrary to expectations, keratin 10 domains did not reduce cell proliferation and instead increased tumor development in genetically modified mice.
152 citations
,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.
13 citations
,
March 1997 in “Research in Veterinary Science/Research in veterinary science” This study found that epithelial keratin K 6 is associated with hyperkeratotic and ulcerated changes in the gastric pars oesophagea of pigs, suggesting epithelial proliferation plays a role in ulcer development.
5 citations
,
February 2003 in “American Journal of Medical Genetics Part A” This case report describes a 6.5-year-old girl with a balanced chromosome translocation involving chromosomes 1 and 6, linked to developmental speech delay and features suggestive of ectodermal dysplasia.
January 2005 in “Australian viticulture” This study found that different bovine epithelial tissues express varying types of cytokeratins, with hair follicle and nasolabial gland expressing both acidic and basic types, while others express only one or the other.
13 citations
,
August 2021 in “Frontiers in Aging Neuroscience” This study found that in SAMP8 mice, phenotypic changes in outer hair cells or the stria vascularis, possibly due to oxidative deficiencies, may predict variability in age-related hearing loss before outer hair cell loss occurs.
April 2017 in “Journal of Investigative Dermatology” This study suggests that mutation-targeted siRNA therapy could potentially treat keratitis-ichthyosis-deafness syndrome by selectively reducing harmful GJB2 mutant gene expression in patient-derived keratinocytes.
66 citations
,
February 2013 in “PeerJ” This study found that CB1 activation by a specific agonist led to decreased expression of keratins K6 and K16 in human skin and inhibited keratinocyte proliferation, suggesting potential for cannabinoid receptors in psoriasis management.
June 2026 in “Communications Biology” In this study, researchers found that the cornification process in the nuptial pads of Xenopus frogs involves the expression of the type II hair keratin homolog, krt59, and is regulated by the transcription factor hoxc13, showing similarities to mammalian hair evolution.
11 citations
,
May 2013 in “Journal of Investigative Dermatology” KRTAP10 proteins help form the hair shaft's tough outer layer by interacting with specific hair keratins.
July 2025 in “Journal of Investigative Dermatology” Secreted inhibitors of Wnt and IGF signaling control hair and tooth development, creating species-specific patterns.
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
,
February 2021 in “Animal biotechnology” This study found that specific variants of the KAP6-1 gene in cashmere-producing goats were associated with changes in fiber diameter and length, suggesting potential as genetic markers for fiber improvement.
July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
6 citations
,
November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers found that the gene Dkk4 influences color pattern formation in domestic cat fetuses, and its mutation is linked to the Ticked pattern type.