47 citations
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December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
475 citations
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October 2006 in “Proceedings of the National Academy of Sciences” Folliculin helps regulate energy and nutrient sensing, impacting Birt–Hogg–Dubé syndrome.
181 citations
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January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
sFRP4 partially inhibits hair regeneration, but the study needs clearer data analysis and better explanation of the process.
48 citations
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April 2008 in “Human Molecular Genetics” Progerin affects cell shape but not hair or skin in mice.
26 citations
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October 2002 in “Journal of Investigative Dermatology” A specific gene mutation causes congenital hair loss.
12 citations
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September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
2 citations
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June 2025 in “Preprints.org” Targeting amphiregulin may improve treatment for fibrotic diseases and cancer.
41 citations
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December 2019 in “Science Translational Medicine” Anti-EGFR therapy can cause skin issues, but FGF7 treatment might help.
11 citations
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February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
April 2023 in “Journal of Investigative Dermatology” Radiation treatment causes skin fibrosis by increasing certain fibroblast subpopulations, but using a c-Jun inhibitor or fat grafting can reduce this effect.
April 2023 in “Journal of Investigative Dermatology” Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
39 citations
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January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
1 citations
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May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The fer-ts mutation in plants prevents root hair growth at high temperatures.
7 citations
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February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
3 citations
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January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
57 citations
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August 2006 in “Journal of the American Academy of Dermatology” Gefitinib can cause hair loss without scarring.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
7 citations
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January 2015 in “Dermatology” Two gene variations, rs6493497 and rs7176005, may be linked to female hair loss in Chinese people.
85 citations
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March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
79 citations
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March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
March 2026 in “Animal Models and Experimental Medicine” Gorab deficiency speeds up skin aging by disrupting protein regulation and reducing collagen.
3 citations
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January 2011 in “生物医学研究杂志:英文版” A new mutation in the KRT86 gene causes monilethrix in a Han family.
21 citations
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March 2003 in “Clinical and Experimental Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
1 citations
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September 2023 in “Acta dermato-venereologica” Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
October 2024 in “Developmental Dynamics” Recent advances show zebrafish can model anemia, Alx4 affects craniofacial and hair development, and mTORC1 is crucial for retinal development.
60 citations
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March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.