6 citations
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May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
30 citations
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December 2011 in “Journal of biological chemistry/The Journal of biological chemistry” Keratin 17 is modified by RSK1 in response to growth and stress, affecting skin growth and stress response.
March 2026 in “World Rabbit Science” DKK4 can be used to improve wool quality in Zhexi Angora rabbits.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” HPV8 causes hair follicle stem cells to grow, leading to skin lesions.
Understanding genetics is crucial for treating heart and skin diseases.
1 citations
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September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
October 2025 in “Cell Death and Disease” CD271 is crucial for maintaining healthy skin and preventing inflammation.
4 citations
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December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
74 citations
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October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
7 citations
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
35 citations
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June 2012 in “PloS one” Keratin 15 expression in skin cells is regulated by two mechanisms involving PKC/AP-1 and FOXM1.
44 citations
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January 2017 in “Journal of Investigative Dermatology” Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
13 citations
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July 1994 in “PubMed” Keratins K6 and K16 are expressed more freely in regenerating mouse skin than K1 and K10.
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” GRK2 is essential for healthy hair follicle function, and its absence can lead to hair loss and cysts.
25 citations
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September 1995 in “Biochemistry and Cell Biology” High levels of human keratin 16 in mice cause skin lesions and abnormal skin development.
79 citations
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August 1998 in “The Journal of Cell Biology” Keratin 16 delays skin maturation and affects skin and hair development in mice.
72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
July 2024 in “Journal of Investigative Dermatology” A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
January 2024 in “Journal of camel practice and research/Journal of Camel Practice and Research” Certain genetic variations in camels affect hair coarseness.
234 citations
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November 2009 in “American journal of human genetics” Common variants in the Trichohyalin gene are linked to straight hair in Europeans.
3 citations
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May 2018 in “The Indian Journal of Animal Sciences” The KAP 7 gene affects wool traits in Rambouillet sheep, with the BB genotype showing the best wool characteristics.
175 citations
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September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
26 citations
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February 1998 in “Chemico-Biological Interactions” Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.
22 citations
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August 1999 in “Mechanisms of Development” Pmg-1 and Pmg-2 are new genes important for skin and mammary gland development.
January 2017 in “Clinical & medical biochemistry” Certain gene variations in AKT2 are more common in women with PCOS and are linked to higher levels of specific hormones and symptoms.
8 citations
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June 2001 in “Journal of Biological Chemistry” A truncated protein linked to breast cancer may change cell adhesion.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
38 citations
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November 1991 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” Keratins 8 and 14 can help identify and diagnose benign skin tumors.
76 citations
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February 1993 in “Journal of Biological Chemistry” KAP6 genes are conserved across species and active in hair follicles.
January 2017 in “Murdoch Research Repository (Murdoch University)” A new genetic variant in the EEF2K gene may contribute to polycystic ovary syndrome.