47 citations,
December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
35 citations,
August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
32 citations,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
[object Object] 30 citations,
January 2009 in “Nuclear Receptor Signaling” Hairless protein is crucial for healthy skin and hair, and its malfunction can cause hair loss.
27 citations,
April 2020 in “Molecular Biology and Evolution” Ancient Chinese goats evolved cashmere-producing traits due to selective breeding, particularly in genes affecting hair growth.
26 citations,
December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
25 citations,
September 2015 in “Clinical Endocrinology” Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
25 citations,
August 2006 in “Human Reproduction” Oral contraceptives lower testosterone levels in women, especially those with certain genetic traits, and may be linked to increased breast cancer risk.
24 citations,
June 2018 in “Reviews in endocrine and metabolic disorders” Thyroid diseases may contribute to autoimmune skin diseases, and more research is needed on their relationship.
24 citations,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
24 citations,
December 2013 in “Sexual medicine reviews” Finasteride can cause sexual problems and depression in young men.
20 citations,
January 2017 in “Scientific reports” Whale genes show changes that help them live in water, like less hair and better flippers.
12 citations,
February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
11 citations,
July 2001 in “APMIS. Acta pathologica, microbiologica et immunologica Scandinavica./APMIS” Estrogens are key for bone growth spurts in both boys and girls and affect growth into adulthood.
9 citations,
March 2015 in “International reviews of immunology” Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
9 citations,
June 2000 in “Journal of The American Academy of Dermatology” Mutation in hairless gene may increase hair loss risk.
5 citations,
January 2017 in “Endocrinology” Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.
5 citations,
August 2003 in “British Journal of Dermatology” Iron deficiency might contribute to hair loss in women.
[object Object] 3 citations,
March 2017 in “International journal of women’s dermatology” Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
2 citations,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
2 citations,
January 2002 in “Hormone Research in Paediatrics” Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
2 citations,
June 2000 in “Journal of The American Academy of Dermatology” Mutation in hairless gene may increase hair loss risk.
1 citations,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
1 citations,
May 2018 in “Clinical chemistry” The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
Wild African goats have genetic adaptations for surviving harsh desert conditions.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
January 2019 in “Springer eBooks” Acne is linked to inflammation and insulin resistance, and is associated with various syndromes that require different treatments.
November 2009 in “Medical & surgical dermatology” The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.