111 citations
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April 2006 in “Annals of the New York Academy of Sciences” Vitamin D receptor is essential for healthy bones and skin.
30 citations
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October 2009 in “Journal of Veterinary Internal Medicine” A Pomeranian dog had rickets due to a new gene mutation, leading to severe symptoms and euthanasia.
April 2026 in “Frontiers in Medicine” Farudodstat may help prevent hair loss in alopecia areata by stopping immune attacks on hair follicles.
March 2021 in “Research Square (Research Square)” Patients with RASopathies have a higher risk of autoimmune disorders and should be routinely screened.
7 citations
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January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
1 citations
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October 2025 in “Journal of Allergy and Clinical Immunology” A JAK1 variant causes hair loss, skin issues, and thyroid disease, but treatment with a specific inhibitor can help.
73 citations
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June 2010 in “PLoS Genetics” A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
15 citations
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March 2000 in “The journal of investigative dermatology/Journal of investigative dermatology” As skin cells mature, vitamin D receptor levels decrease while retinoid X receptor α levels increase.
12 citations
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August 2015 in “Experimental Dermatology” The mineralocorticoid receptor temporarily affects mouse skin development, but the glucocorticoid receptor has a more lasting impact.
19 citations
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May 2018 in “Molecular Medicine Reports” miR‑339‑5p can slow down hair follicle stem cell differentiation by targeting DLX5.
546 citations
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February 2008 in “PLANT PHYSIOLOGY” OsPHR2 gene causes excessive phosphate in rice shoots, affecting plant growth and root development.
23 citations
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October 2024 in “British Journal of Dermatology” Ritlecitinib effectively treats alopecia areata and is safe for long-term use in people 12 and older.
December 2023 in “Journal of Ayub Medical College Abbottabad” Ritlecitinib effectively treats alopecia areata in patients 12 and older with fewer side effects.
208 citations
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November 2000 in “Development” Edar and Eda proteins are crucial for proper tooth development.
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May 2011 in “DOAJ (DOAJ: Directory of Open Access Journals)” The study found genetic diversity in coat color dilution among Czech pointers in Slovakia.
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April 2022 in “Research Square (Research Square)” PBX1 reduces aging and cell death in stem cells by boosting SIRT1 and lowering PARP1.
4 citations
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January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
60 citations
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March 2011 in “Proceedings of the National Academy of Sciences of the United States of America” RANK-RANKL signaling is essential for hair growth and skin health.
September 2025 in “PeerJ” FCER1A and RGS1 may help diagnose and treat systemic lupus erythematosus.
88 citations
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October 1983 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” Patients with this syndrome can have different responses and worsening resistance to treatment over time.
1 citations
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September 2023 in “Journal of the American Academy of Dermatology” Continued ritlecitinib treatment can lead to hair regrowth in some patients with alopecia areata who initially don't respond.
12 citations
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February 1998 in “Gene” The B2 genes are crucial for hair growth in rats.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Elf5 is important for skin stem cell growth and could help treat skin and hair problems.
4 citations
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July 2024 in “Pharmacology Research & Perspectives” Ritlecitinib is safe and may effectively treat alopecia areata.
September 2022 in “Annals of medicine and surgery” Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
5 citations
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December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
January 2008 in “The Year book of endocrinology” Gene variant linked to prostate cancer, hormone levels, and hair loss.
November 2025 in “Indian Journal of Dermatology” Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
16 citations
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March 2019 in “Experimental dermatology” Injury changes how hair follicle stem cells behave, depending on the hair growth stage.
September 2024 in “Annals of Dermatology” A new diagnostic model can help better diagnose and understand Alopecia Areata.