15 citations
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April 2017 in “Hormones” Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
15 citations
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August 2019 in “F1000Research” CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
13 citations
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August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
11 citations
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July 2022 in “International Journal of Molecular Sciences” Tight junctions help control skin shedding and may be targets for treating certain skin conditions.
11 citations
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July 2021 in “Genetics selection evolution” Researchers found genes and genetic variants linked to sheep wool and skin wrinkles.
11 citations
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January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
10 citations
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November 2024 in “Animals” More research is needed to improve wool and cashmere quality through genetics.
10 citations
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August 2023 in “Animals” SLC45A2 and GPNMB genes help control chicken feather color by promoting melanin.
10 citations
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November 2021 in “International journal of molecular sciences” Sheep and goat hair fibers are complex due to keratin-associated proteins, which are important for fiber properties and growth.
10 citations
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September 2021 in “American Journal of Medical Genetics Part A” Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
6 citations
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August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
5 citations
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August 2023 in “G3 Genes Genomes Genetics” The improved genome of the African spiny mouse will help understand its tissue regeneration abilities.
4 citations
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January 2020 in “Genes” The KRTAP21-2 gene affects wool length and quality in sheep.
2 citations
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January 2025 in “Development” BMP5 is essential for ear cartilage cell growth in rodents.
2 citations
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May 2023 in “International Journal of Molecular Sciences” The TRPV3 ion channel is important for skin and hair health and could be a target for treating skin conditions.
2 citations
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August 2021 in “Animal Cells and Systems” Egfl6 is not needed for zebrafish face development.
1 citations
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November 2025 in “Aging Cell” EDA2R is a key gene linked to ageing and diseases, and targeting it may help treat conditions like hair loss and chronic diseases.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
November 2025 in “BMC Genomics” Genetic differences in sheep affect wool type, with fat and immune genes influencing hair traits.
July 2025 in “Frontiers in Medicine” Baricitinib successfully regrew hair in an 8-year-old boy with alopecia totalis linked to a KRT74 gene variant.
January 2025 in “PLoS ONE” ING5 is crucial for stem cell maintenance and preventing certain cancers.
Variant G of the KRTAP20-1 gene improves wool curliness in Chinese Tan sheep.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
40 citations
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September 2010 in “Journal of Biological Chemistry” Keratin K80 is an ancient protein found in various tissues, important for cell structure and tissue differentiation.
305 citations
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March 2008 in “AJP Endocrinology and Metabolism” SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
151 citations
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June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
132 citations
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February 2002 in “Journal of Biological Chemistry” HOXC13 is crucial for regulating hair keratin genes in hair follicles.
130 citations
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April 2001 in “Journal of Investigative Dermatology” The keratin tail is crucial for skin structure and function.
107 citations
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March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
87 citations
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March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.