260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
2 citations
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December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The SYP123-VAMP727 complex is important for transporting materials that harden the root hair shank in Arabidopsis.
22 citations
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August 2013 in “Experimental Dermatology” EGFR hyperactivation increases sebaceous gland size and sebum production in mice.
2 citations
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April 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” The conclusion is that analyzing RNA from skin oils is a promising way to understand skin diseases.
March 2026 in “Experimental Dermatology” The new model helps understand and develop treatments for genetic skin disorders like AEC.
225 citations
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April 2018 in “Journal of Investigative Dermatology” Two main types of fibroblasts with unique functions and additional subtypes were identified in human skin.
KRTAP6 genes affect wool quality in sheep.
Parry Romberg syndrome requires awareness and teamwork in primary care for proper diagnosis and management.
June 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Researchers found a specific T cell receptor linked to severe drug reactions like Stevens-Johnson syndrome when patients take carbamazepine.
2 citations
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March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
15 citations
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February 2020 in “Journal of Investigative Dermatology” Ceramide Synthase 4 is crucial for healthy skin barrier function.
January 2025 in “International Journal of Dermatology Research” Higher MPV and CRP levels may indicate more severe alopecia areata.
July 2024 in “Journal of Investigative Dermatology” 1 citations
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November 2024 in “EMBO Reports” Deleting Gpr54 speeds up hair growth and regeneration.
January 2023 in “Journal of cosmetic dermatology” The synthetic retinoid EC23 thickens skin and promotes hair growth more effectively and with a lower dose than natural retinoids.
October 2023 in “IBRO neuroscience reports” Rat hair follicle stem cells have functional oxytocin receptors, useful for studying neuropsychiatric disorders.
April 2023 in “Cancer research” KRTAP2-3 could help predict cancer recurrence by identifying specific cancer cells.
1 citations
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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.
Genetic analysis of rabbits identified key genes for traits like coat color, body size, and fertility.
35 citations
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March 2013 in “American Journal of Medical Genetics Part B Neuropsychiatric Genetics” SRD5A2 gene variations affect PTSD symptoms differently in males and females.
4 citations
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January 2020 in “Genes” The KRTAP21-2 gene affects wool length and quality in sheep.
79 citations
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October 2003 in “PubMed” Overexpression of PKCepsilon leads to increased TNFalpha, promoting metastatic squamous cell carcinoma in mice.
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July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
34 citations
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August 2018 in “Cancer research” Fixing DNA errors is crucial to prevent skin cancer.
RCS-01 cell therapy is safe and improves skin gene expression.
2 citations
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August 2023 in “Development” Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.
January 2025 in “JCEM Case Reports” Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
Meis2 is essential for touch sensation and nerve function in mice.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
3 citations
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July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.