26 citations,
June 2018 in “The journal of immunology/The Journal of immunology” AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
82 citations,
March 2016 in “Autoimmunity reviews” Animal models have helped understand hair loss from alopecia areata and find new treatments.
62 citations,
January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
56 citations,
January 2021 in “Clinical and Experimental Medicine” The document concludes that while there are various treatments for Alopecia Areata, there is no cure, and individualized treatment plans are essential due to varying effectiveness.
31 citations,
May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
8 citations,
October 2019 in “Immunological investigations” The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.
6 citations,
November 2021 in “Frontiers in immunology” STAT3 signaling is important for healthy skin and hair follicles, and its disruption can lead to skin conditions like atopic dermatitis.
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.
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,
December 2023 in “Journal of clinical immunology” Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.
24 citations,
March 2011 in “The American journal of pathology” AIRE protein, defective in APECED patients, is found in skin and hair cells and interacts with cytokeratin 17.
98 citations,
March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
2 citations,
October 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” AIRE deficiency causes hair loss similar to alopecia areata in mice.
1 citations,
December 2022 in “Frontiers in Immunology” Tissue environment greatly affects the unique epigenetic makeup of regulatory T cells, which could impact autoimmune disease treatment.
April 2010 in “The journal of immunology/The Journal of immunology” FoxN1 gene is crucial for proper thymus structure and normal skin appearance.
32 citations,
May 2012 in “PloS one” Thymic transplantation normalized some T-cells but not others, maintaining immune function.
47 citations,
June 2013 in “Biology of blood and marrow transplantation” Mice with human fetal thymic tissue and stem cells developed symptoms similar to chronic graft-versus-host disease.
42 citations,
March 2008 in “Molecular and Cellular Endocrinology” Hormones and neuroendocrine factors control hair growth and color, and more research could lead to new hair treatment options.
9 citations,
March 2015 in “International reviews of immunology” Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
3 citations,
June 2018 in “The New England Journal of Medicine” A woman with Cushing's syndrome improved after surgery to remove a tumor causing the condition.
67 citations,
December 2008 in “Developmental Biology” Msx2 and Foxn1 are both crucial for hair growth and health.
688 citations,
June 2007 in “Cell Stem Cell” Removing the ATR gene in adult mice causes rapid aging and stem cell loss.
111 citations,
June 2002 in “The EMBO Journal” Too much Smad7 can cause serious changes in skin tissues, including problems with hair growth, thymus shrinkage, and eye development issues.
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.
48 citations,
May 1991 in “The journal of investigative dermatology/Journal of investigative dermatology” Trichohyalin is also found in the outer layers of normal human skin.
December 2009 in “Saengmyeong gwahag hoeji/Saengmyeong gwahak hoeji” Thymosin β4 and VEGF are important for blood vessel formation in many organs.
42 citations,
December 2016 in “Cell Death & Differentiation” Damaging mitochondrial DNA in mice speeds up aging due to increased reactive oxygen species, not through the p53/p21 pathway.
32 citations,
February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.
3 citations,
March 2020 in “International Journal of Molecular Sciences” Thymosin β4 helps increase hair growth in Cashmere goats.
April 2003 in “Experimental Dermatology” The workshop highlighted the genetic links and psychological impacts of hair loss and skin disorders.