354 citations
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August 1991 in “Molecular Endocrinology” Human adrenals and gonads have a unique enzyme for steroid hormone production.
22 citations
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May 2007 in “Molecular Biotechnology”
19 citations
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March 2017 in “Scientific Reports” HAT-L4 is crucial for preventing body fluid loss by maintaining skin barrier integrity.
17 citations
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February 2015 in “Cell Death and Disease” Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.
25 citations
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February 2021 in “Diabetes” Dock5 is important for skin healing and could help treat diabetic wounds.
1 citations
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May 2024 in “Communications Biology” Dab2 protein is crucial for hair follicle stem cell renewal and preventing early aging.
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
4 citations
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October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
April 2025 in “Molecular Biology Reports” DNMT1 may help treat hypospadias by improving cell function and preventing unwanted cell changes.
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February 2001 in “The Journal of Clinical Endocrinology & Metabolism” The enzyme for activating vitamin D is found in many body tissues, not just the kidneys.
5 citations
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March 2012 in “Journal of Investigative Dermatology” Vitamin D receptor and mediator 1 are crucial for healthy skin and hair growth.
1 citations
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July 2006 in “Journal of Investigative Dermatology” A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
March 2025 in “FEBS Journal” Epiprofin suppresses parathyroid hormone gene activity, helping regulate calcium levels and could be a treatment target for hyperparathyroidism.
April 2026 in “Proceedings of the National Academy of Sciences” Tmem30b is essential for hearing by maintaining hair cell structure in the ear.
April 2018 in “Journal of Investigative Dermatology” Dsg1 is essential for maintaining a healthy skin barrier in mice.
2 citations
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October 2023 in “Philosophical Transactions of the Royal Society B Biological Sciences” Different PADI isoforms help cells develop diverse functions.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
87 citations
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March 2007 in “Biological Chemistry” Deleting the scd1 gene in mice prevents obesity by disrupting skin lipids and improving heat regulation.
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June 2022 in “Chinese medical journal/Chinese Medical Journal” Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
63 citations
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April 2005 in “Mechanisms of development” Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.
The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.
8 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
2 citations
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September 2004 in “Experimental Dermatology” Desmosomal adhesion is essential for healthy skin structure and function.
15 citations
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November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
April 2018 in “Journal of Investigative Dermatology” Desmoglein 3 organization in cell connections changes without calcium, affecting cell adhesion.
11 citations
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June 2017 in “Journal of cell science” AGD1's PH domain is essential for its role in root hair growth and polarity.
4 citations
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April 2022 in “Evidence-based Complementary and Alternative Medicine” Dracorhodin perchlorate helps heal wounds in diabetic rats by reducing inflammation.
July 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” TCDD exposure causes sebaceous glands to differentiate and produce more lipids before shrinking.
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June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.
124 citations
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November 2000 in “The journal of investigative dermatology/Journal of investigative dermatology” PAD3 plays a key role in hair and skin protein structure and may be linked to skin diseases.