12 citations
,
January 2014 in “Cell structure and function” This study suggests that specific combinations of human type I and II hair keratins, particularly K35-K85 and K36-K81, have distinct in vitro assembly properties that are significant for macrofibril formation.
3 citations
,
December 2021 in “Proteins” This study found that straight crimp mutant wool differs from crimpy wool in the layout of cortical cells and the relative proportions of keratin and keratin-associated proteins.
1 citations
,
November 2025 in “Science Advances” This research identified two genetic variants that influence the white-spotted coat patterns in Holstein-Friesian cattle, involving regulatory changes in the MITF and KIT genes, confirmed through mouse models, along with possible effects on coat patterns in other cattle breeds.
5 citations
,
June 2008 in “British Journal of Dermatology”
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that conditional deletion of CD271 in mouse epidermis led to significant disorganization and increased thickness, suggesting CD271's crucial role in regulating skin differentiation and structure.
19 citations
,
February 2016 in “Journal of Biological Chemistry” In this study, researchers observed that knocking out KCNQ3 in mice increased firing frequencies in response to stimuli, particularly at slow mechanical indentation velocities, indicating a role in mechanosensory neuron sensitivity.
29 citations
,
November 2011 in “Veterinary pathology” This study reports that eccrine sweat glands in mice predominantly develop on the footpads, offering a reference for skin research involving genetically engineered mice.
89 citations
,
May 2005 in “Stem Cells” This study found that keratinocyte stem cells in mouse skin are closely related to side population or BCRP1-positive cells based on their localization and marker expression.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, the researchers observed significant metabolic dysregulation in central centrifugal cicatricial alopecia, particularly involving lipid metabolism and the downregulation of AMPK-related genes.
March 2026 in “World Rabbit Science” This study found that overexpression and knockdown of DKK4 influence genes involved in hair follicle growth and development in Angora rabbits and identified specific SNPs in DKK4 associated with wool quality, notably showing that the TT/GG haplotype combination relates to higher fibre diameters.
January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases” In this study, researchers observed distinct morphological differences in hair follicles of mutant mouse genotypes, influenced by the expression levels of keratin2-6g, which is essential for proper hair follicle development.
36 citations
,
October 2000 in “British Journal of Dermatology” This study identified a distinct gene near the hairless locus on chromosome 8p that is responsible for hereditary Marie Unna type hypotrichosis in a German family.
1 citations
,
October 2023 in “PROTOPLASMA” December 2021 in “Figshare” This study suggests that BBS7 is crucial for maintaining PDL homeostasis by supporting Sonic hedgehog signaling activity, with occlusal hypofunction leading to its downregulation and associated tissue changes.
28 citations
,
November 2018 in “Journal of Cellular and Molecular Medicine” This review discusses the role of the CXXC5 protein as a transcription factor and signaling coordinator, noting its involvement in embryonic development, tissue homeostasis, and diseases such as tumorigenesis, but reports no new experimental findings.
14 citations
,
July 1994 in “Journal of Dermatological Science” In this study, transgenic mice expressing a mutant K6 gene developed progressive scarring alopecia and keratosis, suggesting they may model a new keratin disorder.
January 2025 in “Cell Communication and Signaling” This study reviews the role of the zinc finger protein CXXC5 in cellular signaling and its implications for cancer, discussing how its dysregulation is linked to various physiological and pathological processes, as well as potential therapies targeting CXXC5.
4 citations
,
May 1998 in “PubMed” This study found that the Bsk phenotype in mice did not result from a recombination event between specific keratin genes, leaving the gene linked to this mutation unidentified.
30 citations
,
October 1999 in “Differentiation” This study found that expression of certain mutant keratin genes in mice led to severe alopecia, suggesting a similar mechanism could cause hair loss in humans.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified that disrupting Mef2c in dermal papilla cells delays the early stages of hair cycle catagen in mice, revealing potential interactions with Sox18 in regulating hair growth.
98 citations
,
June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified a cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.
28 citations
,
August 1992 in “Differentiation” This study identified a new 65 kD and 48 kD keratin pair expressed in specific mouse epithelial sites, suggesting a unique evolutionary branch of hair-related keratins.
January 2025 in “eScholarship@McGill (McGill)” In this study, loss of the Notch ligand Jag2 in mouse epidermal cells disrupted early differentiation and affected the structure and behavior of adjacent melanocytes, highlighting Jag2's role in epidermal differentiation and tissue homeostasis.
22 citations
,
August 1999 in “Mechanisms of Development” This study identified two novel genes, pmg-1 and pmg-2, expressed in various skin and gland tissues and potentially involved in the differentiation of epithelial cells in epidermal appendages.
January 2019 in “Advances in stem cells and their niches” Krox20 is important for cell differentiation in the brain and hair follicles.
7 citations
,
February 2011 in “Journal of dermatology” This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.
3 citations
,
November 2021 in “Frontiers in Genetics” This study suggests that the CXCL8 gene may regulate cashmere fineness in Liaoning cashmere goats, providing new insights into the cellular mechanisms of cashmere growth and quality.
August 1994 in “Molecular Endocrinology” This study found that AtT-20 pituitary cells with higher cAMP-dependent kinase activity had larger calcium currents and significantly increased beta-endorphin release compared to cells with lower kinase activity.
130 citations
,
April 2003 in “Journal of Investigative Dermatology” This study reports the cloning and expression details of two new human type II keratins, K6irs3 and K6irs4, in the hair follicle's inner root sheath, suggesting a distinct functional role related to hair structure.
November 1997 in “Open Archive (Karolinska Institutet)” This research observed that mutations in the PTCH gene are common in both sporadic and hereditary basal cell cancers, suggesting a critical role of the PTCH signaling pathway in skin tumor development.