9 citations
,
January 2011 in “Journal of X-ray science and technology” Perming and bleaching damage hair differently, with bleached hair having more cysteic acid in the cuticle.
12 citations
,
January 1994 in “Dermatology” The patient's hair had unique damage and a lower sulfur-to-nitrogen ratio compared to relatives, but not compared to healthy controls.
21 citations
,
March 2003 in “Clinical and Experimental Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
3 citations
,
March 2014 in “Journal of Industrial Microbiology & Biotechnology” Scientists found a new gene in a bacterium that can modify an immunosuppressant drug, potentially helping to treat hair loss.
6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
3 citations
,
January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
September 2013 in “Helda (University of Helsinki)” Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
3 citations
,
April 2019 in “Journal of the Endocrine Society” Satoyoshi syndrome can occur without causing premature ovarian failure.
49 citations
,
April 2007 in “Pediatric Dermatology” Biotin improved hair appearance in uncombable hair syndrome but didn't change hair structure.
12 citations
,
July 2015 in “Tissue Antigens” The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
126 citations
,
November 1987 in “The Journal of Pediatrics” Selenium deficiency can cause skin and hair color loss, muscle weakness, and blood cell changes, but these improve with selenium supplements.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
January 2025 in “JCEM Case Reports” Ketoconazole improved symptoms of ACTH-independent Cushing syndrome despite inconclusive initial scans.
January 1995 in “Adolescent and pediatric gynecology” Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
23 citations
,
December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
Controlling Tslp can improve health in AEC syndrome patients.
42 citations
,
May 2013 in “Oral Diseases” Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
March 2021 in “Juniper Online Journal Material Science” Energy healing treatment improved L-cysteine's stability, solubility, bioavailability, and shelf-life.
January 2019 in “Journal of cosmetology & trichology” L-Cystine and L-Cystine with Kera-Diet® safely improved hair and nail quality in healthy women.
1 citations
,
October 2024 in “JCEM Case Reports” 5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
January 2024 in “Frontiers research topics” Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
Early diagnosis and treatment of myositis in SLE patients lead to positive outcomes.
1 citations
,
July 2022 in “Clinical and Experimental Dermatology” Amino acid supplements may not be necessary for all women with chronic hair loss.
40 citations
,
February 2005 in “Fertility and Sterility” Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
2 citations
,
July 2016 in “Pharmacopsychiatry” A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.
33 citations
,
October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
July 2025 in “Pediatric Transplantation” A rare skin infection in a 10-year-old kidney transplant patient was successfully managed by adjusting medication.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
December 2025 in “Meditsinskiy sovet = Medical Council” Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
5 citations
,
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” Rapamycin may help treat Leigh syndrome by targeting protein kinase C.