11 citations
,
December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
97 citations
,
March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
3 citations
,
March 2019 in “Case Reports” A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
26 citations
,
June 2003 in “PubMed” Alpha-difluoromethylornithine prevents cancer in mice but causes hair loss.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
10 citations
,
April 2020 in “Clinics in Dermatology” Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
2 citations
,
November 2022 in “Skin research and technology” 5% topical minoxidil improves hair density and quality in monilethrix patients.
January 2013 in “International Journal of Trichology” Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
75 citations
,
January 2004 in “Molecular and Cellular Biology” XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
March 2005 in “Journal of the American Academy of Dermatology” Recognizing minor skin lesions can help identify serious cancer syndromes.
16 citations
,
January 2010 in “American Journal of Neuroradiology” Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
14 citations
,
October 2020 in “Scientific reports” Hair greying is linked to reduced ATM protein in hair cells, which protects against stress and damage.
7 citations
,
August 2021 in “Open Access Macedonian Journal of Medical Sciences” The VDR gene polymorphism does not affect BDNF levels in autoimmune thyroiditis and hypothyroidism patients.
April 2015 in “Journal of Nutritional Therapeutics” Looser dietary restrictions can improve growth and reduce illness in methylmalonic acidemia patients.
4 citations
,
July 2022 in “The Journal of Clinical Endocrinology & Metabolism” A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.
13 citations
,
June 2012 in “European journal of medical genetics” Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
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.
4 citations
,
March 2020 in “JAAD Case Reports” Vitamin B12 deficiency can cause darkening of all nails.
4 citations
,
January 2023 in “Frontiers in Immunology” Shorter telomeres in white blood cells may increase the risk of a common type of hair loss.
32 citations
,
January 2000 in “Human Heredity” Monilethrix severity varies and may be influenced by other genetic or environmental factors.
5 citations
,
February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific group of early-stage melanocytes is reduced in vitiligo-affected skin, which may explain treatment resistance.
5 citations
,
January 2016 in “Open Journal of Regenerative Medicine” Myoblast transplantation shows promise for treating various muscle and heart conditions.
June 2017 in “Journal of clinical and investigative dermatology” Red blood cell folate levels are reliable indicators of long-term folate status in alopecia areata patients.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Damaged hair follicle stem cells may leave the skin to help maintain youthfulness.
277 citations
,
July 2002 in “Molecular Endocrinology” Removing part of the vitamin D receptor stops vitamin D from working properly.
December 2023 in “Forensic science international. Genetics” The RapidHIT ID system can effectively get DNA profiles from hair roots with enough cells.
10 citations
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May 2012 in “PloS one” Low ERCC3 gene activity is linked to non-pigmented hair growth.