260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
20 citations
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February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
24 citations
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January 2000 in “Dermatology” Gene linked to common hair loss found, may lead to new treatments.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
17 citations
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July 2022 in “BMC Genomics” The FA2H gene improves cashmere fineness by enhancing hair growth in goats.
October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Desmoglein 3 is important for keeping hair follicle stem cells inactive and maintaining their special properties.
1 citations
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November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
25 citations
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November 2015 in “Journal of Dermatological Science” Sebum helps protect human skin from microbes.
2 citations
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August 2023 in “Experimental Dermatology” HEY2+ cells help regenerate skin during wound healing.
Understanding genetics is crucial for treating heart and skin diseases.
37 citations
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January 1993 in “Journal of Investigative Dermatology”
17 citations
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August 2018 in “BMC Genomics” The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.
January 2025 in “eScholarship@McGill (McGill)” Jag2 is essential for proper skin cell differentiation and organization.
January 2000 in “Medical Entomology and Zoology”
8 citations
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September 2017 in “Scientific Reports” MAD2B slows down the growth of skin cells that are important for hair development by interacting with TCF4.
March 2024 in “Plant physiology” GLABRA 2 controls ethylene production to help root hair growth during nutrient deficiency.
July 2025 in “Journal of Investigative Dermatology” Secreted inhibitors of Wnt and IGF signaling control hair and tooth development, creating species-specific patterns.
Blocking CXCR4 may help treat hidradenitis suppurativa.
Suppressing ODC activity reduces tumor growth in hair follicles.
1 citations
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June 2025 in “Pigment Cell & Melanoma Research” SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
April 2023 in “Journal of Investigative Dermatology” CD206+ macrophages are crucial for hair growth in alopecia areata treatment.
48 citations
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February 2013 in “Molecular and Cellular Endocrinology” The protein StAR is found in 17 different organs and can affect hair loss and brain functions, but its full role is not yet fully understood.
33 citations
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October 1996 in “Journal of Investigative Dermatology” 46 citations
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December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
48 citations
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August 1998 in “Developmental Biology” Deleting part of a gene in mice causes wavy hair and high pup loss.
November 2014 in “Elsevier eBooks” Gene mutations can cause problems in male genital development.
September 2025 in “Journal of Medicinal Chemistry” AR-27 E-Chol siRNA can effectively regrow hair by reducing androgen receptor gene activity.
88 citations
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August 1998 in “Carcinogenesis” High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
July 2025 in “Journal of Investigative Dermatology” Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
109 citations
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February 2018 in “CB/Current biology” ERULUS controls root hair growth by regulating cell wall composition and pectin activity.