1 citations
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October 2018 in “The American journal of gastroenterology” Relapsing hepatitis A can cause prolonged abnormal liver tests even without symptoms.
Defective nuclear transport may cause gene expression changes in Progeria.
6 citations
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January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” VHL disease can cause early paragangliomas, needing lifelong monitoring.
October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Herpes simplex virus infections should be considered in pemphigus patients to avoid unnecessary changes in treatment.
1 citations
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November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
April 2023 in “Journal of Investigative Dermatology” Interface dermatitis is the most common skin change in drug-induced hypersensitivity syndrome.
69 citations
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December 2015 in “BMC plant biology” Three genes in Arabidopsis are important for plant growth and development by affecting sugar attachment to proteins.
January 2011 in “Journal of Human Genetics” A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
13 citations
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August 1985 in “The Journal of Dermatology” HKN-2 antibody targets specific skin and hair cells, showing keratin complexity.
10 citations
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January 2003 in “Dermatology” The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
February 2023 in “Journal of dermatology” The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
5 citations
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July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
November 2024 in “JAAD Case Reports” A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases” Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
9 citations
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November 2007 in “Blood” TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.
12 citations
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January 2012 in “Dermatology” Finasteride helped treat a 28-year-old's facial skin condition.
18 citations
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February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
52 citations
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June 1991 in “Journal of Virology” The hamster polyomavirus middle T antigen is linked to tumors in hamsters and associates with a specific tyrosine kinase.
April 2019 in “Journal of the Endocrine Society” Sex hormones may be linked to inflammation in Hidradenitis Suppurativa.
June 2022 in “Dermatologic Therapy” Oral minoxidil and growth factors improved hair density and thickness in a girl with hereditary hair loss.
28 citations
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December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
December 2009 in “Cancer Research” Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” HPV8 E6 gene causes growth of certain skin stem cells.
11 citations
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January 2015 in “Journal of cellular physiology” HR protein causes abnormal hair cycles by increasing Tgf-β2 and reducing miR-31.
August 2025 in “Cermin Dunia Kedokteran” HMPV causes respiratory infections, mainly managed with supportive care, and lacks a vaccine or specific treatment.
April 2020 in “Journal of the Endocrine Society” Non-classic congenital adrenal hyperplasia (NCCAH) can mimic PCOS and requires genetic testing for proper diagnosis and treatment.
January 2021 in “Elsevier eBooks” hiPSCs can help regenerate hair follicles and treat hair loss.
November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
January 2023 in “BOĞAZİÇİ TIP DERGİSİ” High insulin levels may increase the risk of pilonidal sinus disease in female teens.