5 citations
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July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
February 2023 in “Cosmoderma” An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
May 2021 in “Journal of the Endocrine Society” A woman's hair loss and other symptoms were due to a rare hormone deficiency treatable with steroids.
February 2023 in “Benha Journal of Applied Sciences” R-Spondin-1 is important for skin health and could help diagnose and treat various skin conditions.
27 citations
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November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
38 citations
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September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
24 citations
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July 1994 in “Molecular Endocrinology” Researchers found an RNA transcript that might help control a growth factor linked to tumor development.
January 2025 in “Scholarly Commons (University of Pennsylvania)” UTX is important for skin health and its loss can lead to skin issues, especially in females.
September 2014 in “Archives of disease in childhood” A 12-year-old boy had severe shingles and skin damage after a stem-cell transplant.
21 citations
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February 2017 in “PLoS ONE” RhoA helps skin stem cells grow, aiding wound healing.
42 citations
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August 1995 in “British journal of dermatology/British journal of dermatology, Supplement” RXR-alpha is strongly expressed in both normal and psoriatic skin and may help in skin cell differentiation and hair growth.
January 2022 in “SSRN Electronic Journal” LncRNA RP11-818024.3 helps hair growth and recovery in hair loss by boosting cell survival and reducing cell death.
January 2024 in “Wiadomości Lekarskie” A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
33 citations
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August 2000 in “Experimental Cell Research” 1 citations
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July 2020 in “The Egyptian Journal of Hospital Medicine” The MDR1 C3435T polymorphism does not significantly affect methotrexate response in rheumatoid arthritis patients.
26 citations
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June 2018 in “The journal of immunology/The Journal of immunology” AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
4 citations
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May 2025 in “Cells” miR-370-3p slows sheep hair cell growth by blocking SMAD4.
7 citations
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January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
January 2004 in “Pharmaceutical biotechnology” Finasteride effectively inhibits the enzyme steroid 5 alpha-reductase II.
June 2023 in “Journal of biological chemistry/The Journal of biological chemistry” Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.
1 citations
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May 2011 in “DOAJ (DOAJ: Directory of Open Access Journals)” The study found genetic diversity in coat color dilution among Czech pointers in Slovakia.
115 citations
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March 2019 in “Nature Communications” Frontal fibrosing alopecia is linked to four genetic areas, especially the HLA-B*07:02 allele.
4 citations
,
August 2025 in “Plant Cell & Environment” Azospirillum brasilense promotes root hair growth in Arabidopsis by increasing auxin and activating specific genes.
234 citations
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April 2000 in “Gene” Msx and Dlx genes are crucial for development, controlling cell behaviors like growth and differentiation through their roles as gene regulators.
July 2023 in “The Keio Journal of Medicine” Certain gene variants can cause inherited hair diseases, which are important to diagnose and understand for patient care.
15 citations
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October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
15 citations
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January 2015 in “Stem cells international” Human hair follicle stem cells can be turned into red blood cells.