150 citations
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August 1992 in “Genes & Development” TNF alpha in skin cells causes weight loss, hair and fat issues, and skin inflammation in mice.
7 citations
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September 2006 in “Molecular Carcinogenesis” Homozygous K5Cre transgenic mice have wavy hair and faster cancer progression.
July 2025 in “Journal of Investigative Dermatology” Acitretin improved monilethrix symptoms temporarily, but they returned after stopping treatment.
2 citations
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January 2021 in “American Journal of Case Reports” A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.
44 citations
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August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
87 citations
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March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
5 citations
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January 2021 in “Indian Journal of Pharmacology” Nilotinib can cause generalized keratosis pilaris.
16 citations
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March 2013 in “JAMA Dermatology” A cancer drug called nilotinib might cause hair loss due to inflammation around hair follicles.
43 citations
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September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
24 citations
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February 2015 in “Experimental Cell Research” NFIC helps human dental stem cells grow and become tooth-like cells.
8 citations
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December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
14 citations
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December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
7 citations
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May 2010 in “Journal of Cutaneous Pathology” A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
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.
25 citations
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May 2004 in “Prenatal Diagnosis” Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
81 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
11 citations
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July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
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.
January 2024 in “Pediatric Dermatology” Minoxidil improved hair growth in a child with a rare genetic disorder.
September 2024 in “The Journal of Dermatology” Nevus comedonicus can sometimes grow terminal hair, challenging previous beliefs.
4 citations
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March 2024 in “Developmental Dynamics” ALX4 is crucial for normal craniofacial and hair development, with specific roles in different cell types.
April 2010 in “Cancer Research” Mcl-1 can activate Wnt signaling in skin cells, promoting growth and possibly cancer.
5 citations
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October 2014 in “Scottish medical journal” Nitrofurantoin may cause sub-acute cutaneous lupus erythematosus.
13 citations
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August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
March 2025 in “The Open Dermatology Journal” Trichorrhexis nodosa is common hair breakage, often due to styling, and new treatments are being explored.
November 2025 in “Clinical and Translational Medicine” DNAJB9 cfRNA could help diagnose and treat female hair loss.
14 citations
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March 1995 in “Journal of cell science” SV40 T antigen in hair follicles causes abnormal hair and health issues in mice.