21 citations
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January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
November 2023 in “Scientific reports” The research identified and described a gene important for hormone conversion in endangered catfish, which varies in activity during different reproductive stages and after hormone treatment.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The reconstructed skin model from hair follicles functions like human skin in processing chemicals and can be used to test ingredient safety.
13 citations
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July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
70 citations
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May 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” Notch/RBP-J signaling is crucial for proper placement and timing of melanocyte development in hair follicles.
14 citations
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October 2017 in “Gene Expression Patterns” A new mouse model helps study melanocyte cells using GFP expression.
4 citations
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April 2019 in “JAAD Case Reports” DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Different types of human skin cells respond uniquely to various colors and doses of light, which could lead to specialized light treatments for skin conditions.
17 citations
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October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
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.
September 2019 in “Journal of Investigative Dermatology” CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
3 citations
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September 2023 in “Journal of Photochemistry and Photobiology A Chemistry” 9 citations
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August 1980 in “Journal of Cutaneous Pathology” Rhodamin B stain is inconsistent for keratin in skin samples.
June 2025 in “British Journal of Dermatology” Segmented hair color changes can indicate active alopecia areata.
3 citations
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January 2017 in “Acta Dermato Venereologica” Lipid-antigen stimulation may play a role in folliculotropic mycosis fungoides.
December 2022 in “Gastroenterology” A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
31 citations
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July 2004 in “Molecular Medicine” Certain defective glucocorticoid receptor mutants move faster inside cell nuclei and work less effectively.
11 citations
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November 1991 in “Journal of Neuropathology & Experimental Neurology” Brindled mice show abnormal catecholamine neuron development due to copper deficiency.
8 citations
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January 2013 in “Medicinal chemistry” The compound 4c showed strong potential as an anticancer agent.
6 citations
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September 2019 in “Skin pharmacology and physiology” RCS-01 therapy is safe and may improve skin structure by affecting gene expression.
41 citations
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April 2019 in “PLOS genetics” CD34+ and CD34- melanocyte stem cells have different regenerative abilities.
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.
6 citations
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September 2015 in “Journal of Medicinal Chemistry” The document confirms the structures of major metabolites of the CRTh2 antagonist Setipiprant and identifies minor metabolites.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
21 citations
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January 2018 in “Anticancer Research” NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
August 2024 in “Journal of Dermatology & Cosmetology” Acitretin effectively prevented skin cancer in a patient with late-onset Rothmund-Thomson syndrome.
29 citations
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January 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” P-cadherin is crucial for hair follicle pigmentation but not skin pigmentation.
3 citations
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May 2020 in “Acta pharmaceutica” Protocatechuic acid can reduce melanin production and boost antioxidant activity in hair follicles.