8 citations
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December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
39 citations
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October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
1 citations
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February 2025 in “Scientific Reports” CD4 is crucial for maintaining skin stem cell balance and aiding wound healing.
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.
April 2016 in “Journal of Investigative Dermatology” Mice without the p21 gene can fully regenerate injured ears due to reduced Sdf1 increase and leukocyte recruitment, suggesting new ways to induce tissue regeneration in mammals.
19 citations
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May 2018 in “Molecular Medicine Reports” miR‑339‑5p can slow down hair follicle stem cell differentiation by targeting DLX5.
9 citations
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April 2020 in “Journal of dermatology” A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
20 citations
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January 2017 in “Experimental Dermatology” Igf1r helps regulate hair growth cycles.
1 citations
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August 2025 in “Epigenetics & Chromatin” H3K4me3 helps control RSPO3 to influence hair growth and development.
7 citations
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July 2020 in “Immunological Investigations” The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
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.
1 citations
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October 2010 in “2010 3rd International Conference on Biomedical Engineering and Informatics” The LEF-1 gene in cashmere goats was successfully cloned and analyzed, showing potential for improving cashmere production.
12 citations
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August 2015 in “Experimental Dermatology” The mineralocorticoid receptor temporarily affects mouse skin development, but the glucocorticoid receptor has a more lasting impact.
23 citations
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July 2016 in “JAMA Ophthalmology” CDH3-related disease causes worsening eye and hair issues.
49 citations
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October 1989 in “Genomics” Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
57 citations
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April 2009 in “Differentiation” SDF-1/CXCL12 and its receptor CXCR4 are crucial for melanocyte movement in mouse hair follicles.
3 citations
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July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
January 2025 in “Open Life Sciences” Overexpression of the HE4 gene in mice causes eye inflammation and cloudiness.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
75 citations
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September 2016 in “EMBO journal” PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.
May 2023 in “Frontiers in Endocrinology” Blocking CRF1 receptors improved male hormone levels and reduced testicular tumor size in men with a specific adrenal condition.
8 citations
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October 2020 in “Stem cell research & therapy” DNMT1 helps turn hair follicle stem cells into fat cells by blocking a specific microRNA.
60 citations
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October 2020 in “Nature Communications” AP-1 and TGFß work together to drive resistance in basal cell carcinoma, suggesting new treatment options.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
10 citations
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September 1997 in “Molecular carcinogenesis” Mirex seems to promote a unique group of skin cells different from those affected by another tumor promoter, TPA.
5 citations
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August 2023 in “G3 Genes Genomes Genetics” The improved genome of the African spiny mouse will help understand its tissue regeneration abilities.
5 citations
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November 2005 in “Journal of Investigative Dermatology”
1 citations
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September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
August 2015 in “Han'gug dongmul jawon gwahag hoeji/Han-guk dongmul jawon gwahak hoeji/Journal of animal science and technology” TRα and CRABPII genes change their activity levels during goat fetal skin development.
32 citations
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November 2020 in “UNC Libraries” A point mutation in the androgen receptor gene causes complete androgen insensitivity.