144 citations
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March 2013 in “Circulation Research” K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
65 citations
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September 2010 in “Journal of the Neurological Sciences” Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
49 citations
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November 2021 in “Annual review of pathology” Lysophospholipids like LPA and S1P are important for hair growth, immune responses, and vascular development, and could be targeted for treating diseases.
41 citations
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May 2020 in “Frontiers in immunology” Hidradenitis suppurativa might be a type of autoinflammatory skin disease.
25 citations
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June 2012 in “Endocrine” PCOS may start before birth, involves metabolic issues, and can be treated with drugs like metformin and lifestyle changes.
18 citations
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April 2013 in “PLOS ONE” Mice with autoimmune hair loss showed signs of heart problems.
4 citations
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October 2013 in “Springer eBooks” Melatonin receptors, found in many body parts, can help treat various diseases like depression and diabetes due to their effects on inflammation, tumor progression, sleep disorders, and body mass regulation.
3 citations
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March 2017 in “International journal of women’s dermatology” Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
1 citations
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January 2022 in “Open Journal of Endocrine and Metabolic Diseases” The woman was misdiagnosed with Graves Disease, leading to incorrect treatment, while she actually had Pituitary Resistance to Thyroid Hormone.
May 2015 in “Endocrinología y nutrición” The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
228 citations
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January 1997 in “Birkhäuser Basel eBooks” Keratin proteins and their genes are crucial for hair growth and structure.
26 citations
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September 2020 in “Journal of the European Academy of Dermatology and Venereology” A certain genetic variant in the androgen receptor may predict the severity of COVID-19 in men.
8 citations
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October 2006 in “Current Pharmaceutical Design” Common gene patterns may cause skin autoimmune diseases.
September 2023 in “International Journal of Community Medicine and Public Health” Different sebaceous gland diseases can be treated with medications, hormone therapy, or surgical methods.
February 2010 in “Journal of The American Academy of Dermatology” A woman with thymoma developed a rare chronic condition similar to graft versus host disease after surgery.
70 citations
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September 2008 in “PubMed” MicroRNAs are important for skin development and diseases and could be used for treatment and diagnosis.
September 2025 in “Radboud University Press eBooks” AHR ligands could treat inflammatory skin diseases.
iEdgePathDDA effectively finds new drug-disease links, outperforming other methods.
26 citations
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May 2014 in “BioEssays” Using neurohormones to control keratin can lead to new skin disease treatments.
4 citations
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September 2004 in “Experimental Dermatology” Mutations in certain skin proteins cause severe skin issues, while others have limited effects, highlighting the need to understand these proteins for better treatments.
2 citations
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May 2022 in “Ukraïnsʹkij žurnal medicini bìologìï ta sportu” Disruptions in skin microbiome can lead to seborrheic dermatitis.
2 citations
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October 2018 in “Skin appendage disorders” A boy's hair that was frizzy and hard to comb returned to normal after 9 months, possibly due to genetic factors.
March 2025 in “FEBS Journal” Epiprofin suppresses parathyroid hormone gene activity, helping regulate calcium levels and could be a treatment target for hyperparathyroidism.
January 2022 in “Function” Studying rare genetic disorders can help us understand and treat common diseases better.
November 2024 in “Journal of Investigative Dermatology” Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.
44 citations
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January 1999 in “Advances in pharmacology” The document concludes that the androgen receptor's structure and function are complex, affecting how it regulates genes and is involved in diseases like prostate cancer.
25 citations
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December 2018 in “Human Molecular Genetics” The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
5 citations
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February 2019 in “PloS one” Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
124 citations
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September 1992 in “Endocrinology” The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
7 citations
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July 2020 in “Immunological Investigations” The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.