July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
December 2024 in “Journal of Applied Toxicology” High doses of dihydroartemisinin caused reversible liver toxicity in rats, with females more affected than males.
46 citations
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October 2012 in “Seminars in reproductive medicine” Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
April 2025 in “Molecular Biology Reports” DNMT1 may help treat hypospadias by improving cell function and preventing unwanted cell changes.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
10 citations
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July 2014 in “Annals of Saudi Medicine” A 30-year-old man with rare skin conditions improved with antibiotics and surgery, hinting at a link to rosacea.
2 citations
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November 2023 in “Indian Dermatology Online Journal” A 4-year-old girl with a rare lupus condition was successfully treated with oral corticosteroids, leading to full recovery and hair regrowth.
1 citations
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February 2009 in “Journal of Investigative Dermatology” Lipase H is important for hair follicle function and shaping hair fibers.
11 citations
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January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
July 2025 in “Zenodo (CERN European Organization for Nuclear Research)” Ritlecitinib helps regrow hair in alopecia areata and is safe for long-term use.
23 citations
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June 1992 in “PubMed” RAR-gamma 1 is important for normal skin maintenance and differentiation.
January 2026 in “International Journal of Dermatology” Ritlecitinib helps hair regrowth and reduces emotional and functional burdens in alopecia areata.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.
November 2006 in “評価・診断に関するシンポジウム講演論文集” KSR1 is crucial for certain skin tumor formation and could be a cancer therapy target.
August 2022 in “F1000Research” Digital gangrene can be a rare first sign of late-onset systemic lupus erythematosus.
2 citations
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March 2010 in “Acta Biochimica Polonica” Raltitrexed conjugates are less potent than the free drug but more effective at high concentrations.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Children with frequent severe infections and low antibodies should be checked for immune deficiencies.
2 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
76 citations
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September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
April 2021 in “Journal of Investigative Dermatology” People with atopic dermatitis have more CD4+ T cells that respond to a certain bacterial lipid, which may play a role in the skin condition's inflammation.
6 citations
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July 2020 in “Photodermatology Photoimmunology & Photomedicine” Early diagnosis of skin conditions linked to rickets is crucial to prevent growth and bone issues.
1 citations
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July 2021 in “Acta dermatovenerologica Croatica” Adalimumab significantly improved symptoms and quality of life in two patients with Hidradenitis Suppurativa.
4 citations
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October 2018 in “JAMA Dermatology” Ruxolitinib may help treat hair loss and symptoms in patients with chronic graft-versus-host disease.
2 citations
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August 2022 in “Federal Practitioner” A severe medication reaction required long treatment and led to hair loss and thyroid issues.
July 2025 in “Zenodo (CERN European Organization for Nuclear Research)” Ritlecitinib helps regrow hair in alopecia areata and is safe for long-term use.
A rare skin condition in a 17-year-old was diagnosed late, stressing the need for careful evaluation and genetic testing.
5 citations
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February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
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.
RNase L hinders hair follicle regeneration by altering immune signals.
3 citations
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October 1979 in “Laboratory animals” Hairless rats are good for testing anti-inflammatory drugs, similar to haired rats, without needing to remove fur.