10 citations
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April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
41 citations
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December 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting MED1 in skin cells causes hair loss and skin changes.
45 citations
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March 1997 in “Journal of Investigative Dermatology” 46 citations
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December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
4 citations
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November 2024 in “Journal of Advanced Research” Targeting NMMHC IIA may help treat blood-brain barrier damage.
7 citations
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September 2003 in “Journal of Investigative Dermatology” PAR-1 may play a role in hair growth regulation in human hair follicles.
22 citations
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July 1998 in “Journal of Investigative Dermatology” The 4C32 gene may help in mouse skin development and differentiation.
17 citations
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February 2019 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” AKR1D1 controls glucocorticoid levels and receptor activity in liver cells.
4 citations
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May 2025 in “Cells” miR-370-3p slows sheep hair cell growth by blocking SMAD4.
April 2016 in “Journal of Investigative Dermatology” Double-stranded RNA activates a pathway that causes a skin protein to be expressed in the wrong place.
3 citations
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April 2024 in “Molecular Human Reproduction” Paxillin may help manage androgen-related disorders like PCOS by stabilizing androgen receptor proteins.
4 citations
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May 2023 in “Pigment Cell & Melanoma Research” BMI1 is essential for preventing hair greying and maintaining hair color.
5 citations
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January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” YAP1 is important for skin regeneration and may affect skin disorder treatments.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
9 citations
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August 2021 in “International journal of molecular sciences” PPARγ is essential for maintaining healthy skin, controlling inflammation, and ensuring proper skin barrier function.
April 2018 in “Journal of Investigative Dermatology” Dsg1 is essential for maintaining a healthy skin barrier in mice.
3 citations
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August 2017 in “International journal of reproduction, contraception, obstetrics and gynecology” People with PCOS have higher levels of PAI-1, which may increase their risk of heart disease and fertility issues.
14 citations
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December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
April 2018 in “Journal of Investigative Dermatology” The study found that p63 needs signals from morphogens to help skin cells differentiate properly.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.
9 citations
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February 2024 in “mBio” Biliverdin IXβ and IXδ help Pseudomonas aeruginosa adapt to chronic infections.
May 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” The enzyme 5α-reductase is important for proper blood vessel development during the fertility-related transformation of the uterus lining.
Polydopamine is promising for personalized medicine and biomedical technology due to its strong adhesion and biocompatibility.
September 2023 in “Plant journal” A protein called GIS3 is important for the growth of root hairs in Arabidopsis by controlling two genes with the help of certain growth signals.
28 citations
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December 2015 in “Journal of biological chemistry/The Journal of biological chemistry” Prostasin has two roles in skin: one for normal skin development without needing activation, and another for proper hair growth that requires activation.
9 citations
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July 2007 in “Journal of Investigative Dermatology” Claudin expression changes help the skin respond to injury.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
November 2025 in “Journal of Investigative Dermatology” TEDAR is crucial for skin cell differentiation and barrier formation.