15 citations
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April 2011 in “Biological Chemistry” Cathepsin E is crucial for normal skin cell differentiation and development.
24 citations
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March 2017 in “Archives of Gynecology and Obstetrics” The study found that women with hyperandrogenic PCOS have higher levels of AKT1 and AKT2 proteins in their cells, which may lead to cell dysfunction.
February 2026 in “Biophysical Journal”
Alopecia areata patients show increased inflammation and OX40 activation, suggesting a new treatment target.
August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
64 citations
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March 2004 in “Journal of Clinical Investigation” Targeting ornithine decarboxylase can help prevent skin cancer.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” AP-2α and AP-2β proteins are essential for healthy adult skin and hair.
18 citations
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April 2013 in “PLOS ONE” Mice with autoimmune hair loss showed signs of heart problems.
21 citations
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March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
1 citations
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July 2022 in “Journal of dermatology” Disrupted citric acid metabolism stops hair growth.
612 citations
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February 2004 in “Nature” OXI1 kinase is essential for plant defense and root hair growth in Arabidopsis.
February 2024 in “International journal of medical science and clinical research studies” CCCA is a scarring hair disorder mainly affecting people of African descent, needing better awareness and treatment.
11 citations
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January 2022 in “Experimental Dermatology” Severe CCCA may be biologically and clinically different from milder forms.
16 citations
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April 2024 in “Proceedings of the National Academy of Sciences” HDAC4 and HDAC7 are crucial for Th17 cell development and could be targeted to treat inflammatory diseases.
7 citations
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
July 1995 in “Journal of Dermatological Science” 28 citations
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November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
2 citations
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August 2004 Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
April 2017 in “Journal of Investigative Dermatology” Removing the Crif1 gene in mouse skin disrupts skin balance and hair growth.
184 citations
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September 2006 in “PLoS Genetics” The Apc gene is crucial for normal skin and thymus development.
May 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” EAAT4 decreases with age, harming skin function and calcium balance.
Adipocytes in atopic dermatitis skin change and worsen inflammation and fibrosis.
July 2024 in “Journal of Investigative Dermatology” CD8+ T cells expand significantly in alopecia areata, suggesting new treatment targets.
January 1999 in “Proceedings of the British Society of Animal Science” Biotin deficiency may harm hair follicle health and growth in Angora goats.
1 citations
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October 2010 in “2010 3rd International Conference on Biomedical Engineering and Informatics” The LEF-1 gene in cashmere goats was successfully cloned and analyzed, showing potential for improving cashmere production.
January 2017 in “IMC Journal of Medical Science” A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
8 citations
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June 2023 in “European Journal of Endocrinology” The inhibitor affects androgen metabolism but not ovarian function.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
January 2024 in “The journal of investigative dermatology/Journal of investigative dermatology” AP-2α and AP-2β are crucial for healthy skin and hair.