6 citations
,
September 2015 in “Journal of Investigative Dermatology” This study demonstrated that RNA interference targeting mutant keratin genes can effectively correct hair shaft structural defects in a mouse model by reducing mutant gene expression.
In this study, researchers created a mouse model using CRISPR/Cas9 technology to investigate hypotrichosis simplex and woolly hair, finding that Krt71-knockout mice exhibited curly hair and developed complete hair shedding without immune deficiencies, mimicking conditions seen in humans and potentially aiding future hair disorder research.
17 citations
,
March 2012 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, researchers found that overexpression of the hairless protein in Hr mutant mice disrupts inner root sheath formation by downregulating Dlx3 and associated keratins in hair follicle development.
2 citations
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July 2021 in “Genes” This study identified a new genetic variant in the KRT71 gene responsible for a breed-specific form of hypotrichosis in Hereford cattle, potentially serving as a model for similar human conditions.
This study explored a mother and daughter with loose anagen hair syndrome linked to wooly hair, identifying an intronic variant in the KRT71 gene that affects hair keratin splicing, thus broadening the spectrum of KRT71-related disorders.
99 citations
,
July 2012 in “PLoS Genetics” This study identified a 69 bp deletion in the KRT75 gene as the cause of the frizzle feather trait in chickens, affecting feather curling.
4 citations
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December 2020 in “Mammalian genome” This study found that pelage abnormalities in Harlequin mutant mice are linked to severe AIF deficiency and associated with altered expression of genes related to hair structure.
45 citations
,
January 2010 in “Journal of Veterinary Medical Science” This study identified a mutation in the keratin 71 gene that causes curly hair in certain rats, advancing our understanding of hair formation.
40 citations
,
June 2013 in “Scientific Reports” This study found an association between a splice site variant in the KRT71 gene and curly hair in Selkirk Rex cats, identifying a significant locus on chromosome B4.
75 citations
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October 2010 in “Mammalian genome” In this study, specific genetic polymorphisms in the KRT71 gene were associated with hairless and curly phenotypes in Sphynx and Devon Rex cats.
14 citations
,
April 2022 in “Functional & Integrative Genomics” This study identified specific miRNAs and mRNAs involved in the development of secondary hair follicles in cashmere goats, particularly noting a targeted relationship between chi-miR-30e-5p and DLL4.
8 citations
,
June 2012 in “PloS one” This study found that the Plcd3(mNab) mutation in mice worsens the alopecia caused by Plcd1 loss, suggesting synergistic effects between Plcd1 and Plcd3 on hair follicle health.
February 2023 in “Research Square (Research Square)” This study reports that a new mouse model with a CARD14 mutation successfully mimics key human PRP symptoms, and anti-IL-17A antibody significantly reduces these symptoms.
6 citations
,
July 2015 in “Journal of Investigative Dermatology” Chicken feather gene mutation helps understand human hair disorders.
7 citations
,
September 2017 in “Scientific Reports” This study found that overexpression of sPLA2-IIA in homozygous mice resulted in cyclic alopecia, a halt in hair follicle cycling, and impaired wound healing due to complete loss of hair follicle stem cells.
2 citations
,
May 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that sebaceous glands in the skin are primarily renewed by their own stem cells during normal conditions, but after injury, they regenerate through stem cells from hair follicles, highlighting stem cell plasticity and regeneration capabilities.
2 citations
,
May 2023 in “Journal of Advanced Research” In this study, researchers identified two genetic mutations associated with producing finer and denser wool in fine-wool sheep, involving the genes KRT74 and EDAR, which may guide future breeding efforts to enhance wool quality.
17 citations
,
May 2018 in “BMC genomics” This study found that miR-432 inhibits KRT83 expression, revealing potential molecular mechanisms for the formation of curly fleece in Tan sheep and suggesting implications for understanding curly hair formation in humans.
68 citations
,
December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests a regulatory model where HOXC13 activates Foxn1, affecting hair and nail differentiation, supported by similarities in Hoxc13(tm1Mrc) and Foxn1(nu) mice phenotypes and gene expression patterns.
37 citations
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May 2018 in “Frontiers in physiology” This study identified key long non-coding RNAs and mRNAs involved in primary wool follicle induction in carpet wool sheep, emphasizing their roles in hair follicle development and skin processes.
15 citations
,
May 2014 in “Journal of Biological Chemistry” In this study, targeting the expression of a keratin KRT5/KRT8 chimeric cDNA in keratin-deficient mice partially restored structural defects in epidermal cells, but did not fully normalize skin health.
78 citations
,
May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
74 citations
,
October 2012 in “The American Journal of Human Genetics” This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.
9 citations
,
August 2024 in “International Journal of Molecular Sciences” This review explores epidermolysis bullosa simplex subtypes caused by mutations in KRT5 or KRT14 and summarizes gene expression patterns and molecular mechanisms, without presenting new experimental results.
January 2024 in “International journal of molecular sciences” This study found that higher expression of the Hoxc13 gene in specific areas of hair follicles is associated with longer wool length in Gansu alpine fine-wool sheep.
September 2025 in “Science Advances” This study reports that PADI4, an enzyme involved in posttranslational protein modifications, regulates progenitor cell transitions in hair follicle development by repressing transcription and interacting with translational and ribosomal processes.
56 citations
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March 2015 in “Cell death and differentiation” This study found that H-Ras activation in aged mouse skin leads to increased dysplasia and progression to in situ squamous cell carcinoma, highlighting an age-linked connection between immune changes, senescence, and cancer risk.
7 citations
,
September 2022 in “International journal of molecular sciences” This study identified and analyzed numerous lncRNAs, miRNAs, and mRNAs involved in hair follicle development in cashmere goats, highlighting key regulatory pathways and suggesting roles for specific RNAs in enhancing hair follicle cell proliferation.
September 2025 in “Animals” This study analyzed circular RNA expression in the developing skin of foetal Gansu Alpine fine-wool sheep, identifying key circRNAs potentially involved in secondary follicle development through regulatory networks, providing insights for wool trait improvement.
23 citations
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May 2020 in “Cell Death and Disease” This study generated FGF5-knockout Dorper sheep using the CRISPR/Cas9 system, resulting in significantly increased fine-wool and active hair-follicle density, and explored downstream signaling pathways for potential applications in androgen alopecia treatment.