7 citations
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August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
277 citations
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July 2002 in “Molecular Endocrinology” Removing part of the vitamin D receptor stops vitamin D from working properly.
35 citations
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June 2011 in “British Journal of Dermatology” The DQB1*03 allele is linked to higher alopecia areata risk in Italians.
The vitamin D receptor has many roles in the body beyond managing calcium, affecting the immune system, hair growth, muscles, fat, bone marrow, and cancer cells.
22 citations
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August 2020 in “Health and Quality of Life Outcomes” The DLQI is reliable but may not fully capture the impact of skin conditions on quality of life, especially in emotional and psychological areas.
5 citations
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May 2001 in “Proceedings of SPIE, the International Society for Optical Engineering/Proceedings of SPIE” The DWLSM provides detailed imaging of hair shafts and follicles with high accuracy.
25 citations
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August 2014 in “Endocrinology” Researchers created a mouse model of a type of rickets that does not cause hair loss.
4 citations
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November 2022 in “Frontiers in endocrinology” The enzyme 5α-reductase type 1 is important for blood vessel development and fertility in the uterus.
142 citations
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December 1991 in “Antimicrobial Agents and Chemotherapy” Dextran sulfate was found to be toxic and ineffective for treating HIV.
30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
13 citations
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February 2016 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” Mice without active or present vitamin D receptors maintain normal blood sugar control and islet gene expression when calcium levels are normal.
January 2025 in “International Journal of Molecular Sciences” Non-liganded Vitamin D Receptor is crucial for healthy skin and hair.
5 citations
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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.
53 citations
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May 2010 in “Journal of Cellular Physiology” Mice without Vitamin D receptors have hair growth problems because of issues in the hedgehog signaling pathway.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
22 citations
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March 2017 in “Transplant Infectious Disease” Leflunomide successfully treated a rare skin condition in a liver transplant patient.
January 2018 in “Journal of Investigative Dermatology” Blocking certain pathways with kinase inhibitors may help treat cutaneous lupus erythematosus.
52 citations
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November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
34 citations
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July 2009 in “Journal of Cell Science” ΔNp63α helps control a protein that stops cancer cells from spreading.
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
July 2024 in “Journal of Investigative Dermatology” Targeting TCR-Vβ2 in cutaneous T cell lymphoma shows promise for safer, more specific treatment.
October 2023 in “Scientific Reports” Gene therapy helped rats with a specific type of rickets grow hair without severe inflammation.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
53 citations
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December 2012 in “Revista da Sociedade Brasileira de Medicina Tropical” Dengue symptoms and liver issues can persist for over two months, especially in men.
8 citations
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November 2024 in “Acta Dermato Venereologica” The Dermatology Life Quality Index is reliable and consistent but needs more diverse participant studies.
May 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Cannabidivarin (CBDV) helps new brain cells grow and develop in a specific brain area through a certain receptor.
12 citations
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September 2017 in “JDR Clinical & Translational Research” Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.
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November 2014 in “Journal of Cutaneous Medicine and Surgery” Antiviral medication valganciclovir may improve skin and hair in Trichodysplasia Spinulosa patients.
60 citations
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September 2023 in “Science” BTNL proteins help control inflammatory bowel disease by maintaining specific immune cells.