91 citations,
May 2005 in “The Journal of Clinical Endocrinology & Metabolism” A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
[object Object] 33 citations,
September 2017 in “Journal of clinical immunology” New treatments for immune disorders caused by FOXN1 deficiency are promising.
21 citations,
November 2009 in “Dermatologic Clinics” The document suggests that certain protein deficiencies and scalp blistering in Epidermolysis Bullosa may cause hair loss.
19 citations,
May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
10 citations,
June 2011 in “Archives of Dermatology” Finasteride caused blisters on hands and feet.
13 citations,
August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
[object Object] 8 citations,
January 2023 in “International journal of molecular sciences” Transglutaminase activity is important for skin and is found in both mammals and birds.
5 citations,
July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
10 citations,
April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
28 citations,
February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
32 citations,
May 2012 in “PloS one” Thymic transplantation normalized some T-cells but not others, maintaining immune function.
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.
1 citations,
February 2013 in “Clinical pediatrics” The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
September 2016 in “Journal of Dermatological Science” Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
18 citations,
November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
August 2020 in “Pakistan Journal of Zoology” A new mutation in the Hairless gene causes hair loss in two Pakistani families.
7 citations,
March 2015 in “British Journal of Dermatology” Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.
14 citations,
May 2013 in “American Journal of Physiology-endocrinology and Metabolism” Removing myelin protein zero-like 3 in mice leads to better metabolism and resistance to obesity.
1 citations,
May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.
86 citations,
October 2005 in “Experimental Dermatology” The Foxn1 gene mutation causes hairlessness and immune system issues, and understanding it could lead to hair growth disorder treatments.
74 citations,
September 2006 in “Cell Cycle” The HR protein's role as a repressor is essential for controlling hair growth.
74 citations,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
69 citations,
January 2013 in “Frontiers in Immunology” The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
47 citations,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
38 citations,
October 2014 in “Current Opinion in Endocrinology, Diabetes and Obesity” 5-alpha reductase deficiency leads to male sexual development issues and treatments like finasteride help with prostate enlargement and hair loss.
30 citations,
September 2017 in “Clinics in Dermatology” Acanthosis nigricans is a skin condition that may indicate a higher risk for insulin resistance and type 2 diabetes, and more research is needed to understand and treat it.
28 citations,
October 2004 in “Differentiation” A gene deletion causes the "hairless" trait in Iffa Credo rats.
24 citations,
November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
19 citations,
July 2015 in “Journal of inherited metabolic disease” Methionine restriction works better than betaine for treating CBS deficiency symptoms in mice.
18 citations,
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.