35 citations
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August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
124 citations
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October 2019 in “Frontiers in Immunology” Janus kinase inhibitors are promising treatments for autoimmune skin diseases like eczema and psoriasis.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
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April 2018 in “Journal of Investigative Dermatology” The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
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July 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Zebrafish regenerate sensory hair cells through three phases, offering insights for potential mammal applications.
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July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.
April 2023 in “Journal of Investigative Dermatology” Using DNase enzymes to break down harmful NETs could be a new treatment for Stevens-Johnson syndrome and toxic epidermal necrolysis.
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August 2024 in “The Journal of Cell Biology” Actin filaments help stabilize and reshape cell membranes.
May 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Topical immunotherapy for alopecia areata may work by creating immune cell clusters in the skin.
May 2006 in “The Journal of Cell Biology” Keratin 17 is crucial for cell growth in wound healing by aiding protein synthesis.
March 2026 in “Journal of Investigative Dermatology” Genetic factors, especially PADI3 gene variants, contribute to CCCA in women of African descent.
November 2022 in “Journal of Investigative Dermatology” Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
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August 1998 in “Carcinogenesis” High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
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June 2019 in “International Journal of Dermatology” Frontal fibrosing alopecia has occurred in two related male families.
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February 2025 in “Journal of Dairy Science” The SLICK1 allele in Holstein heifers affects hair and immune traits without altering prolactin signaling.
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April 2005 in “Journal of dermatological science” The study found nine new hair protein genes in human hair follicles.
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May 1998 in “PubMed” The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
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January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
Shikimic acid can promote hair growth and may help treat hair loss.
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June 2022 in “Experimental dermatology” The SHJH hr mice with a mutated Hr gene show signs of faster skin aging due to poor antioxidative protection.
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January 2006 in “International review of cytology” Keratin-associated proteins are crucial for hair strength and structure.
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September 2022 in “Cellular and Molecular Life Sciences” SOX9 is essential for the development of various organs and hair follicles.
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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.
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October 2017 in “Stem Cell Reports” Alkaline Ceramidase 1 prevents early hair loss in mice by keeping hair follicle stem cells balanced.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
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March 2023 in “International Wound Journal” IGF2BP3 and other m6A-related genes are linked to keloid formation and could be potential treatment targets.
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October 2007 in “The FASEB Journal” Phospholipase C-δ1 is crucial for normal hair development.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The ALADIN score can predict how well patients with alopecia areata will respond to JAK inhibitor treatments.
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August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.