1 citations
,
November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
2 citations
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January 2000 in “Journal of Toxicologic Pathology” A single recessive gene causes sparse hair in certain Japanese White rabbits.
2 citations
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October 2016 in “OPAL (Open@LaTrobe) (La Trobe University)” The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
61 citations
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March 1966 in “Archives of Dermatology” Nevoid basal cell carcinomas start in the skin and hair follicles.
April 2018 in “Journal of Investigative Dermatology” The study found that p63 needs signals from morphogens to help skin cells differentiate properly.
15 citations
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December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
5 citations
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November 2021 in “Saudi medical journal” The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
July 2016 in “Cancer research” Mutant cells in hair follicles are influenced by their location and interactions with surrounding cells.
44 citations
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August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
August 2020 in “DOAJ (DOAJ: Directory of Open Access Journals)” Finasteride, at doses of 5mg or higher, may negatively affect male fertility by reducing the expression of certain genes involved in sperm production.
3 citations
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May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
27 citations
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July 2017 in “Scientific Reports” N-WASP is essential for healthy skin and preventing inflammation.
17 citations
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May 2021 in “Journal of Cell Science” N1-acetylspermidine promotes hair follicle stem cell self-renewal.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
13 citations
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April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
January 2007 in “Revista del Centro Dermatológico Pascua” A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
September 2025 in “Jurnal Penelitian Pendidikan IPA” Two genetic variations in Moa buffalo help them adapt to heat.
March 2026 in “JID Innovations” Aire mutation reduces alopecia areata, while Notch4 mutation prevents it in mice.
13 citations
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May 2023 in “Journal of Dermatological Science” Reduced SIRT1 in hair cells may cause alopecia areata by triggering immune responses.
9 citations
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January 1975 in “PubMed” Nude mice are hairless due to a shared defect affecting both skin and thymus, not just thymic issues.
48 citations
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June 2014 in “Neurobiology of Disease” The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.
January 2024 in “Wiadomości Lekarskie” A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
2 citations
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July 2011 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” Seven genetic variations in sheep's DSG4 gene are linked and affect wool traits.
27 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
54 citations
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April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
June 2023 in “International Journal of Research in Dermatology” Certain gene variations are linked to severe acne in Egyptian patients and could guide treatment choices.
2 citations
,
August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
12 citations
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February 1998 in “Gene” The B2 genes are crucial for hair growth in rats.
Mdm2 is crucial for controlling p53 to maintain healthy cells and prevent tumors.