146 citations
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May 2002 in “The American journal of pathology” Cathepsin L is essential for normal hair growth and development.
33 citations
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August 2013 in “Lupus” SLE patients in eastern Saudi Arabia have a generally good prognosis despite multi-organ involvement.
November 2009 in “Journal of Pediatric Nursing” Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
March 2014 in “Journal of the American Academy of Dermatology” Alopecia areata is relatively common in children, has a variable course, and shows different responses to treatment; thyroid testing is recommended for those affected.
1 citations
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August 2021 in “Journal of Investigative Dermatology” ASLAN004 was safe and well-tolerated, supporting further development for treating certain diseases.
1 citations
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August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
March 2014 in “Journal of The American Academy of Dermatology” Azathioprine may be an effective treatment for severe hair loss.
May 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” A potential treatment for atopic dermatitis could be to increase PADI1 expression to improve skin barrier function.
94 citations
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July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
8 citations
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December 2019 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
The enzyme Dgat1 is essential for healthy hair and skin by controlling retinoid levels.
A 29-year-old woman with symptoms of both lupus and rheumatoid arthritis improved with specific medications.
49 citations
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May 1974 in “Biochimica et Biophysica Acta (BBA) - Protein Structure” Transamidases are present in the epidermis but their exact role is unclear.
October 2025 in “Indian Journal of Paediatric Dermatology” Zinc treatment improved skin and hair issues in a boy with a zinc-related condition.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
39 citations
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February 2011 in “The Prostate/The prostate” Some men's prostate tissues have low enzyme levels due to genetic changes, possibly affecting treatment for prostate enlargement.
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.
December 2019 in “Saintika Medika” A woman with lupus also developed a severe skin condition linked to a genetic factor.
2 citations
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August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
23 citations
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September 1957 in “Archives of Dermatology” Alkaline phosphatase activity decreases in early alopecia areata.
157 citations
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May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
57 citations
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August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
March 2021 in “Annals of King Edward Medical University” Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.
7 citations
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January 2011 in “Veterinary Pathology” A horse with severe hair loss was diagnosed with alopecia areata and a yeast infection.
4 citations
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October 2006 in “Anais Brasileiros de Dermatologia” Contact dermatitis treatment for alopecia areata can lead to temporary hair loss.
1 citations
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January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
July 2024 in “Journal of Investigative Dermatology” INTASYL is a promising, adaptable RNAi technology for treating skin cancers.
3 citations
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July 2021 in “International journal of environmental research and public health/International journal of environmental research and public health” Two patients developed complete hair loss after Alemtuzumab treatment for MS, with no regrowth after two years.
November 2025 in “Contact Dermatitis” Avoiding salicylates improved skin issues and stabilized hair loss in a woman with frontal fibrosing alopecia.
10 citations
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July 2002 in “Australasian Journal of Dermatology” Careful management of blood thinners is crucial for lupus patients with APS.