11 citations
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April 2021 in “Advanced synthesis & catalysis” PXX is an effective and affordable photocatalyst for creating new chemical bonds in organic synthesis.
May 2026 in “Research Square” The polyG fragment in Hoxc13 protein helps evolve mammalian skin and hair by enhancing gene interactions.
178 citations
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October 2001 in “Genes & Development” The mutated hairless gene causes hair loss by acting as a new type of corepressor affecting thyroid hormone receptors.
January 2022 in “Revista Dermatológica Centro Uraga” Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.
September 2022 in “Research Square (Research Square)” Increasing Rps14 helps grow more inner ear cells and repair hearing cells in baby mice.
3 citations
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December 2019 in “Lupus” Hydroxychloroquine effectively treated a woman's lupus skin issues and hair loss.
17 citations
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January 2015 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
October 2013 in “Journal of Investigative Dermatology” Collagen VII helps skin heal and stay strong, sirolimus may lower skin cancer risk in kidney transplant patients, high-molecular-mass hyaluronan helps naked mole rats resist cancer, dermal γδ T cells aid in hair growth in rodents, and overexpression of IL-33 in mouse skin causes itchiness, offering a model for studying allergic inflammation treatments.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Skin tumors with CYLD cutaneous syndrome show more NF-κB activity and less organized collagen.
5 citations
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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.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
25 citations
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December 2008 in “Journal of Dermatological Case Reports” In vivo reflectance confocal microscopy is useful for evaluating hair shaft diseases but needs improvement for deeper hair follicle issues.
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December 1977 in “Virchows Archiv B Cell Pathology”
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October 1986 in “European journal of pediatrics” A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.
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February 2023 in “Pediatric Dermatology” Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
RCS-01 cell therapy is safe and improves skin gene expression.
75 citations
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September 2016 in “EMBO journal” PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.
3 citations
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February 2022 in “Frontiers in cell and developmental biology” A specific RNA molecule, circCOL1A1, affects the growth and quality of goat hair by interacting with miR-149-5p and influencing cell growth pathways.
January 2015 in “Elsevier eBooks” CA VI helps maintain pH balance and is important for various bodily functions.
109 citations
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June 2011 in “Molecular and Cellular Endocrinology” Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.
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April 1995 in “Clinical Genetics” Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
14 citations
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March 2022 in “Plant Cell & Environment” The protein AtRXR3 limits root hair growth in Arabidopsis, affecting phosphorus uptake.
April 2018 in “Journal of Investigative Dermatology” Resveratrol activates the Nrf2 pathway in human skin, significantly increasing the production and distribution of the antioxidant glutathione.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
5 citations
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September 2017 in “Medicine” A patient with Cronkhite-Canada Syndrome developed colon cancer that spread to the liver, showing the need for regular cancer checks in such patients.
January 2025 in “JCEM Case Reports” Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
8 citations
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April 2017 in “Journal of Dermatological Science” Hair loss is caused by the breakdown of a protein called COL17A1 in hair follicle stem cells.
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.
September 2019 in “Journal of Investigative Dermatology” Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.