22 citations
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January 2018 in “Experimental Dermatology” The meeting focused on understanding, diagnosing, and finding treatments for irreversible hair loss diseases.
June 2025 in “Albus Scientia” MC1R gene variations affect skin, hair color, UV sensitivity, and melanoma risk.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
11 citations
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September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
November 2025 in “BMC Genomics” Wrinkled skin in Xiang pigs is linked to gene changes related to oxidative stress and the extracellular matrix.
130 citations
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January 2000 in “Nature biotechnology” BLTP1 and KIF27 gene mutations can help breed better wool sheep.
98 citations
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March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
20 citations
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November 2003 in “American Journal Of Pathology” Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.
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.
March 2024 in “Research Square (Research Square)” The TT genotype of a specific SNP in sheep is linked to better wool quality.
9 citations
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May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
27 citations
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May 2002 in “The Journal of Clinical Endocrinology & Metabolism” Brothers of women with PCOS tend to have higher levels of a hormone called DHEAS, indicating a possible genetic link.
51 citations
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August 2013 in “The Journal of experimental medicine/The journal of experimental medicine” Loss of a specific protein in skin cells causes symptoms similar to psoriasis.
21 citations
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March 2018 in “American Journal Of Pathology” Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
4 citations
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June 2024 in “Animals” Genes like MC1R, TYR, MITF, ASIP, and KIT determine horse and donkey coat colors and affect breeding and health.
February 2024 in “BMC genomics” The TRPV3 gene variant may cause the long-haired suri alpaca coat.
62 citations
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October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
6 citations
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November 2021 in “Oncology Research and Treatment” Low Vitamin D receptor levels in breast cancer are linked to worse outcomes and more bone metastases, and could be a marker for prognosis.
January 2026 in “Burns & Trauma” NLRP3 helps control inflammation and repair in wound healing, making it a potential target for treatment.
88 citations
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June 2000 in “Journal of Investigative Dermatology” Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
69 citations
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May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
27 citations
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January 2010 in “Animal” South American camelids should be sheared early, fleece type affects fiber quality, and the S/P follicle ratio doesn't distinguish between Bolivian llama genotypes.
October 2023 in “Cell & bioscience” A special gene region controls the re-emergence of a primitive wool type in Merino sheep, improving their wool yield and adaptability.
5 citations
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November 2022 in “Genetics selection evolution” Low-coverage sequencing is a cost-effective way to find genetic factors affecting rabbit wool traits.
November 2023 in “Journal of animal science/Journal of animal science ... and ASAS reference compendium” Pig hair cortisol levels are inheritable and linked to stress responses, which could help select for more resilient pigs.
February 2026 in “Small Ruminant Research” The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.
January 2025 in “Nutrients” Genetic factors and diet significantly increase the risk of male pattern baldness.
September 2024 in “Journal of Investigative Dermatology” A new tool can analyze hair to detect changes due to hormones, genetics, and aging.
November 2023 in “Scientific Reports” A gene mutation in Lama3 is linked to a common type of hair loss.