3 citations
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April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
185 citations
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December 2010 in “Archives of Biochemistry and Biophysics” Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
139 citations
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September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
166 citations
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July 1999 in “American Journal Of Pathology” The hairless (hr) gene is essential for normal hair follicle function and its mutation leads to hair loss.
70 citations
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April 2014 in “Annales d'endocrinologie” New genes and pathways are important for testosterone production and male sexual development.
1 citations
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October 2024 in “Canine Medicine and Genetics” The MLPH gene is not linked to seasonal hair loss in Rhodesian Ridgeback dogs.
The FGF5 gene variant causes long hair in Akitas, and genetic testing is advised to manage coat length and welfare.
January 2024 in “International journal of molecular sciences” Hoxc13 gene affects wool length in Gansu alpine fine-wool sheep.
May 2023 in “International journal of molecular sciences” The ABCA4 gene protects hair follicle stem cells from toxic vitamin A byproducts.
3 citations
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January 2023 in “Science advances” The enzymes Tet2 and Tet3 are important for skin cell development and hair growth.
September 2025 in “Genes” Certain gene variations in Jiangnan cashmere goats are linked to important traits like birth weight and fiber quality, useful for breeding.
July 2025 in “Human Genomics” New LSS gene variants help understand congenital hypotrichosis 14 better.
The GG genotype of the KRT71 gene leads to longer wool in Gansu alpine fine-wool sheep.
10 citations
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May 2020 in “International Journal of Molecular Sciences” Hair follicles can be used to study gene mutations in Stargardt disease.
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
1 citations
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September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
January 2025 in “Kuwait Journal of Science” KRT71 gene variants may influence camel hair shape but don't fully explain it.
May 2023 in “Pharmaceuticals” Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
26 citations
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July 2020 in “Fertility and Sterility” Male infertility and genitourinary birth defects are often linked to genetic issues.
18 citations
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February 2010 in “Odontology” The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
14 citations
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June 2022 in “BMC genomics” Key genes crucial for sheep hair follicle development were identified, aiding fine wool breeding and human hair loss research.
7 citations
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August 2020 in “Genes” Different genes are active in dogs' hair growth and skin, similar to humans, which helps understand dog skin and hair diseases and can relate to human conditions.
1 citations
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May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.
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.
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.
December 2016 in “Journal of Evolution of Medical and Dental Sciences” Chronic Acrodermatitis Enteropathica can persist into adulthood and requires careful zinc treatment.
24 citations
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December 2018 in “Inflammation and Regeneration” Phospholipase A2 enzymes play key roles in skin health and disease.
20 citations
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October 2005 in “Archives of Dermatological Research”
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.