30 citations
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January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
February 2025 in “Journal of Paediatrics and Child Health” Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
1 citations
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July 2017 in “Cancer Research” Overexpressing NSD3 in mice causes breast cancer-like tumors and gland abnormalities.
201 citations
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May 2001 in “Proceedings of the National Academy of Sciences” Overexpression of COX-2 in mice skin causes abnormal skin and hair development.
32 citations
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December 1969 in “The Lancet” Children with marasmus have more resting hair follicles and thinner, less pigmented hair, showing long-term malnutrition.
20 citations
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November 1968 in “The Lancet” Potassium levels affect blood sugar and insulin during dialysis, and malnutrition changes children's hair roots.
18 citations
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November 2016 in “Neuromuscular Disorders” Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
16 citations
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August 1989 in “PubMed” Retinol and L-cystine improve diffuse hair loss without side effects.
9 citations
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May 2019 in “Experimental Cell Research” HPV genes and estradiol increase a cancer-related signaling pathway, which may be targeted for cervical cancer treatment.
6 citations
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May 1987 in “Acta dermato-venereologica” Syphilis patients showed abnormal hair root changes, with no difference between primary and secondary stages.
Tretinoin is used topically to treat acne, skin aging, and various skin conditions.
July 2019 in “Cancer Research” Bone marrow and hair follicle cells help form skin tumors, suggesting new treatment targets.
July 2019 in “Tumor Biology” Bone marrow-derived cells contribute to skin tumors, suggesting new treatment targets for non-melanoma skin cancers.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.
56 citations
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March 2015 in “Cell death and differentiation” Older skin has higher cancer risk due to inflammation and stem cell issues.
31 citations
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February 2007 in “Molecular Carcinogenesis” Overexpressing ATF3 in mice's epithelial cells may lead to oral cancer.
5 citations
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October 2013 in “Veterinary Clinics of North America: Equine Practice” Some horses lose hair without inflammation or itching due to various conditions, and while mainly a cosmetic issue, diagnosis requires examination and biopsies, and breeding is not advised if it's hereditary.
1 citations
,
January 2018 in “Indian dermatology online journal” Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
January 2023 in “Pesquisa Veterinária Brasileira” A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
May 1961 in “Tumori Journal” Vitamin A treatment reduced abnormal cell growth and improved skin conditions in rats with tumors.
175 citations
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December 1980 in “Archives of Dermatology” Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
49 citations
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April 2007 in “Pediatric Dermatology” Biotin improved hair appearance in uncombable hair syndrome but didn't change hair structure.
32 citations
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May 1986 in “Archives of Dermatology” The condition is likely inherited in an autosomal-dominant pattern.
27 citations
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June 1989 in “Journal of Medical Genetics” Hairy elbows may be linked to short stature, but the exact cause is unclear.
26 citations
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January 1983 in “PubMed” Trichothiodystrophy involves brittle hair due to low sulfur amino acids, not a transport defect.
25 citations
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September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.