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March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
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.
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September 2001 in “Journal of Investigative Dermatology” BSSP may help skin tumors grow and could be a marker or target for skin cancer treatment.
September 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Three genes linked to the development of trichilemmal cysts were found.
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January 2019 in “Aging” Lack of functional CYLD in mice leads to early aging and cancer.
March 2026 in “World Rabbit Science” DKK4 can be used to improve wool quality in Zhexi Angora rabbits.
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April 2024 in “Nature Cell Biology” August 2019 in “International journal of dermatology and venereology” The calcineurin/NFAT pathway plays a significant role in the development and growth of a type of skin cancer called cutaneous squamous cell carcinoma.
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March 2022 in “Plant Cell & Environment” The protein AtRXR3 limits root hair growth in Arabidopsis, affecting phosphorus uptake.
April 2021 in “Journal of Investigative Dermatology” Cyclooxygenase-2 overexpression in mice skin causes hair loss like human androgenetic alopecia.
Keratinocytes can reverse the effects of the GNAQ oncogene, inhibiting melanoma cell growth.
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January 2017 in “Genes” The gene KAP22-1 affects wool yield and fiber shape in sheep.
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September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
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February 2023 in “Genes” CUX1 boosts sheep hair cell growth and affects curl patterns.
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August 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” Modulating Cytochrome P450 activity could help develop new skin disease treatments.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
November 2025 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
October 2024 in “Frontiers in Veterinary Science” FKBP10 and FBN2 are key proteins for hair growth in cashmere goats.
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March 2010 in “Journal of Dermatological Science” Wnt3a activates certain genes in hair follicle cells, including a newly discovered one, EP2, which may affect hair growth.
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November 2022 in “Journal of Investigative Dermatology” ALRN-6924 may prevent hair loss caused by chemotherapy.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The study suggests that changes in immune system receptors and their interaction with a cell component may be important in the development of a type of hair loss condition.
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January 2021 in “Indian Journal of Pharmacology” Nilotinib can cause generalized keratosis pilaris.
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May 2001 in “Development” Overexpression of Hoxc13 in hair cells causes hair loss and skin issues.
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November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.
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September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
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February 2021 in “Translational Psychiatry” Researchers found two new genetic variants linked to Alzheimer's disease.