11 citations
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September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
9 citations
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November 2019 in “Cell calcium” The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
8 citations
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October 2012 in “Transgenic Research” Overexpressing the human H-ferritin gene in mice causes mild growth delay and temporary hair loss.
December 2022 in “Frontiers in plant science” CCDC22 and CCDC93 are essential for root and root hair growth in Arabidopsis.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Lef1 helps adult skin cells maintain their ability to heal wounds and regenerate hair, but the study's methods and conclusions have been questioned.
27 citations
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July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
19 citations
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November 1993 in “Mammalian Genome” A gene mutation in mice causes permanent hair loss and skin issues.
January 2026 in “MDPI (MDPI AG)” The hairy ear mutation in mice is linked to changes in gene expression affecting hair growth.
Ritlecitinib can reduce inflammation and help hair regrow in Alopecia Areata.
April 2024 in “Journal of Investigative Dermatology” Using quantitative traits in genetics can improve understanding and management of skin health and conditions.
2 citations
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May 2011 in “Pigment Cell & Melanoma Research” Collagen XVII is crucial for preventing hair and pigmentation loss by maintaining melanocyte stem cells.
1 citations
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October 2022 in “PubMed” Gender affects wool traits in sheep, with males and females showing differences in skin proteins related to wool growth.
1 citations
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August 2019 Anti-Desmocollin 3 antibodies can cause atypical pemphigus symptoms.
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.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” p120-catenin helps control skin inflammation by regulating cadherin levels.
8 citations
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January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
June 2008 in “The Knowledge Bank (The Ohio State University)” Smad2 and Smad3 are essential for normal skin development, and their absence causes severe skin issues and cancer.
68 citations
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December 2011 in “Journal of Investigative Dermatology” Sox2-positive dermal papilla cells have unique characteristics and contribute more to skin and hair follicle formation than Sox2-negative cells.
28 citations
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February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
March 2021 in “AACE clinical case reports” A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
April 2019 in “Journal of the Endocrine Society” Mosaic Klinefelter syndrome can affect male fertility and may be missed in routine tests.
May 2012 in “Reactions Weekly” A man developed hair loss from testosterone treatment but improved with additional medication.
1 citations
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October 1990 in “The Lancet” Using minoxidil for hair growth may cause skin lesions in some people, and taking breaks from nitrate patches for angina might worsen symptoms.
9 citations
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March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
1 citations
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August 2015 in “AACE Clinical Case Reports” A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
October 2023 in “IJEM case reports” A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
August 2024 in “International Journal of Women’s Dermatology” Alopecia is common in severe cases of autosomal recessive congenital ichthyosis.
April 2013 in “Cancer Research” SKH1 hairless mice have identifiable epidermal stem cells with specific markers.
1 citations
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December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
8 citations
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December 2020 in “Scientific reports” Selective breeding caused the unique curly hair in Mangalitza pigs.