4 citations,
May 2023 in “Cells” Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
188 citations,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
15 citations,
October 2014 in “Journal of Investigative Dermatology” New treatments targeting the Hedgehog pathway can help treat advanced skin cancer but may have side effects and their effectiveness in early stages is unknown.
260 citations,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
144 citations,
March 2013 in “Circulation Research” K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
101 citations,
December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” Scientists turned mouse stem cells into skin cells that can grow into skin layers and structures.
68 citations,
March 1965 in “The BMJ” Hormones and genetics affect hair growth and patterns, with some changes reversible and others not.
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.
28 citations,
October 2004 in “Differentiation” A gene deletion causes the "hairless" trait in Iffa Credo rats.
24 citations,
January 2011 in “International Journal of Trichology” Light microscopy is useful for diagnosing different hair disorders.
21 citations,
January 2006 in “Pediatrics” Some diseases can improve the outcomes of other diseases, leading to new treatment possibilities.
11 citations,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
11 citations,
September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
10 citations,
July 2015 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
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February 2019 in “International Journal of Dermatology” Gray hair is caused by reduced melanin production or transfer issues, linked to aging and possibly health conditions, with treatments focusing on color camouflage.
1 citations,
February 2009 in “Journal of Investigative Dermatology” Lipase H is important for hair follicle function and shaping hair fibers.
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.
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
July 2018 in “Elsevier eBooks” Discoid Lupus Erythematosus often causes scarring hair loss, is influenced by genetics and environment, and requires early treatment to prevent worsening.
117 citations,
May 2017 in “Human Reproduction Update” The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
95 citations,
February 2019 in “The New England Journal of Medicine” Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
92 citations,
September 2019 in “ACS nano” A wearable device using electric stimulation can significantly improve hair growth.
84 citations,
July 2003 in “European journal of biochemistry” Mouse skin can produce and process serotonin, with variations depending on hair cycle, body location, and mouse strain.
60 citations,
September 2001 in “Journal of the American Academy of Dermatology” Insulin resistance contributes to hormone imbalances in many women with polycystic ovary syndrome.
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June 2022 in “Frontiers in medicine” There are still challenges in diagnosing and treating chronic skin diseases, but there is hope for future improvements.
55 citations,
November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
38 citations,
January 2014 in “International Journal of Endocrinology” Adrenal disorders can cause lasting brain and behavior issues in children.
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September 2012 in “Dermatologic Clinics” Hair disorders are caused by a complex mix of biology, genetics, hormones, and environmental factors, affecting hair growth and leading to conditions like alopecia.
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May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
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July 2003 in “The Nurse practitioner” New treatments for PCOS focus on managing symptoms and improving fertility.