1 citations
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November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
17 citations
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August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT82 gene is significantly associated with Alopecia Areata.
5 citations
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January 2016 in “Open Journal of Regenerative Medicine” Myoblast transplantation shows promise for treating various muscle and heart conditions.
5 citations
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July 1996 in “Journal of Cutaneous Medicine and Surgery” TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
June 2025 in “British Journal of Dermatology” Nail abnormalities in children can indicate deeper health issues.
October 2023 in “Indian Journal of Ophthalmology - Case Reports” Kallmann syndrome can cause eye issues and other health problems, requiring various treatments.
June 2025 in “Journal of Endocrinological Investigation” Adrenal disorders often cause high blood pressure in young people.
January 2014 in “International Journal of Clinical Medicine” Premature aging increases the risk of immune problems and autoimmune diseases.
309 citations
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June 2001 in “Molecular and Cellular Endocrinology” Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.
22 citations
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April 2012 in “The American journal of pathology” Loss of Msx2 function causes eye development issues similar to Peters anomaly.
18 citations
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February 2010 in “Odontology” The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
13 citations
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November 2012 in “PLoS ONE” A gene mutation in mice causes severe skin disorder similar to a human condition.
1 citations
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February 2013 in “InTech eBooks” LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.
3 citations
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May 2013 in “PubMed” Research on Hutchinson-Gilford progeria syndrome could help understand normal aging and heart disease.
71 citations
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November 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Edar signaling is crucial for proper hair follicle development and function.
34 citations
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November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
22 citations
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October 1996 in “Dermatologic clinics” Understanding intermediate filaments helps explain hair health and related diseases.
20 citations
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February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
17 citations
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March 2012 in “Journal of biological chemistry/The Journal of biological chemistry” Hairless protein affects hair follicle structure by regulating the Dlx3 gene.
August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
July 2021 in “Journal of medical pharmaceutical and allied sciences” Amenorrhea, or missing periods, is caused by various factors and is treated based on the specific cause.
April 2002 in “Annals of Internal Medicine” Isotretinoin may increase the risk of high triglycerides and metabolic syndrome, especially in those genetically prone.
December 2016 in “Journal of Evolution of Medical and Dental Sciences” Chronic Acrodermatitis Enteropathica can persist into adulthood and requires careful zinc treatment.
April 1981 in “Pediatric research” Copper treatments increase copper in all tissues, but brindled female mice accumulate much more copper in their kidneys without clinical effects, unlike brindled male mice where brain copper deficiency is clinically significant.
425 citations
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August 2002 in “BioEssays” The cornified cell envelope forms a protective barrier in skin and hair, using specific proteins and lipids to maintain effectiveness.
253 citations
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April 2009 in “Journal of Biological Chemistry” p2y5, now called LPA6, is a receptor important for human hair growth.
49 citations
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November 2021 in “Annual review of pathology” Lysophospholipids like LPA and S1P are important for hair growth, immune responses, and vascular development, and could be targeted for treating diseases.
89 citations
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January 2020 in “PubMed” Early detection and biotin treatment improve outcomes for biotinidase deficiency.
84 citations
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April 2002 in “Archives of Dermatology” Loose anagen hair syndrome may be caused by keratin gene mutations.