31 citations,
February 1997 in “The Journal of Clinical Endocrinology and Metabolism” People who carry the 21-Hydroxylase Deficiency gene are not more likely to have excessive male hormone levels.
29 citations,
July 2013 in “Journal of Investigative Dermatology” UV radiation causes skin cancer, but sunscreens and certain drugs can help prevent it.
26 citations,
March 2012 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
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.
22 citations,
August 2020 in “Cells” TGM3 is important for skin and hair structure and may help diagnose cancer.
21 citations,
July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
21 citations,
January 2020 in “General and Comparative Endocrinology” Lack or blocking of SRD5a, a key component in hormone creation, can lead to conditions like pseudohermaphrodism and affect hair growth, bone mass, muscle strength, and reproductive health. More research is needed on its regulation from fertilization to adulthood.
21 citations,
January 2010 in “Dermatologic Clinics” The document suggests that certain protein deficiencies and scalp blistering in Epidermolysis Bullosa may cause hair loss.
20 citations,
May 2016 in “Journal of Cosmetic Dermatology” Low vitamin D receptor levels found in hair loss patients; topical vitamin D treatment suggested.
18 citations,
January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
16 citations,
May 2011 in “The Journal of clinical investigation/The journal of clinical investigation” Some skin tumors may start from hair follicle stem cells.
13 citations,
April 2007 in “British Journal of Dermatology” EF and PXE not closely related.
13 citations,
May 2001 in “Current problems in dermatology” Keratin proteins in epithelial cells are dynamic and crucial for cell processes and disease understanding.
12 citations,
July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
9 citations,
April 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” The symposium concluded that understanding the molecular mechanisms of skin aging could lead to better clinical practices and treatments.
9 citations,
March 2015 in “International reviews of immunology” Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
9 citations,
January 2015 in “Current problems in dermatology” Scientists have found specific genes linked to different hair loss conditions, which could lead to new treatments.
9 citations,
July 2011 in “Scientific Reports” Changes in the HR gene have influenced hair growth and may lead to hair loss conditions in humans.
6 citations,
January 2016 in “Journal of Investigative Dermatology” Using special RNA to target a mutant gene fixed hair problems in mice.
5 citations,
December 2021 in “Frontiers in Cell and Developmental Biology” Enzymes called PADIs play a key role in hair growth and loss.
5 citations,
May 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The gene therapy showed significant wound healing and was safe for treating severe RDEB.
4 citations,
January 2014 in “International Journal of Trichology” A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
3 citations,
March 2018 in “Human Reproduction” A man with testotoxicosis was fertile despite low FSH levels, suggesting high testosterone may allow sperm production without FSH.
3 citations,
September 2017 in “Archives of dermatological research” Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
2 citations,
December 2021 in “Case reports in endocrinology” The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
2 citations,
July 2021 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” Hair shaft disorders are diagnosed through examination and history, with general care and some treatments offering improvement.
2 citations,
May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
2 citations,
November 2015 in “Actas Dermo-Sifiliográficas” Epidermal stem cells show promise for future dermatology treatments due to ongoing advancements.
2 citations,
November 2011 in “InTech eBooks” Most adrenal cortex tumors are benign and non-secreting, but proper diagnosis and treatment are important due to the rare possibility of cancer.
2 citations,
November 2004 in “Hormone Research in Paediatrics” Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.