3 citations
,
January 2021 in “Journal of The American Academy of Dermatology” Different types of atopic dermatitis were linked to specific genetic and immune changes, suggesting that severe cases might need stronger immune-targeting treatments.
94 citations
,
April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
The KRTAP36-2 gene in sheep affects wool yield.
1 citations
,
July 2023 in “Journal of Animal Science and Biotechnology” The SOSTDC1 gene is crucial for determining sheep wool type.
91 citations
,
May 2005 in “The Journal of Clinical Endocrinology & Metabolism” A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
3 citations
,
June 2017 in “Reproductive biomedicine online” A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
April 2025 in “International Journal of General Medicine” The G allele of IFITM3 rs12252 is linked to more severe COVID-19.
3 citations
,
March 2016 in “Experimental Dermatology” A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
17 citations
,
October 2003 in “Brazilian Journal of Medical and Biological Research” The gene SDR5A1 is found in scalp hair of both hirsute and normal individuals, but it does not explain differences in hair growth.
July 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” ACA2 is crucial for root hair growth by controlling calcium levels in cells.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” TYK2 inhibition may help treat alopecia areata by promoting hair growth and reducing immune response.
23 citations
,
January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
17 citations
,
April 2007 in “Kidney international” Vitamin D boosts a specific gene activity in kidney cells that could improve heart and kidney function.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
43 citations
,
April 2011 in “AJP Endocrinology and Metabolism” Androgens increase muscle mass by promoting myoblast growth through ornithine decarboxylase.
5 citations
,
May 2014 in “Clinical and Experimental Dermatology” Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
12 citations
,
January 2018 in “Journal of Clinical Laboratory Analysis” Certain IL-18 gene variations may increase the risk of alopecia areata.
June 2007 in “Journal of Investigative Dermatology” 22 citations
,
July 1998 in “Journal of Investigative Dermatology” The 4C32 gene may help in mouse skin development and differentiation.
43 citations
,
September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
September 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Three genes linked to the development of trichilemmal cysts were found.
Understanding genetics is crucial for treating heart and skin diseases.
20 citations
,
April 2014 in “Autoimmunity” A specific gene variant (rs4833095) is linked to a higher risk of alopecia areata in Koreans.
253 citations
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April 2009 in “Journal of Biological Chemistry” p2y5, now called LPA6, is a receptor important for human hair growth.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
83 citations
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October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
5 citations
,
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The gene therapy showed significant wound healing and was safe for treating severe RDEB.
ETS2 drives cancer progression in squamous cell carcinoma and is linked to poor patient outcomes.