86 citations
,
November 2015 in “Journal of Gastroenterology” The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
December 2023 in “International Journal of Dermatology”
31 citations
,
May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
April 2018 in “Journal of Investigative Dermatology” Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
62 citations
,
January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
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.
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
,
December 2023 in “Journal of clinical immunology” Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.
759 citations
,
February 2009 in “Current Biology” Hair follicles are complex, dynamic mini-organs that help us understand cell growth, death, migration, and differentiation, as well as tissue regeneration and tumor biology.
40 citations
,
January 2017 in “Intestinal Research” Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
34 citations
,
July 2020 in “Frontiers in immunology” Androgens may influence T cells, contributing to higher autoimmune liver disease risk in women.
April 2024 in “Research Square” IBD patients treated with TNF antagonists may develop autoimmune alopecia areata, with severe cases less likely to improve.
August 2023 in “Research Square (Research Square)” Personalized thiopurine dosing based on NUDT15 genotyping can improve long-term outcomes for ulcerative colitis and Crohn's disease patients.
April 2017 in “Childhood Kidney Diseases” Azathioprine can cause severe blood issues and hair loss, needing careful monitoring and possible discontinuation.
76 citations
,
January 1998 in “Mammalian Genome” 23 citations
,
October 2015 in “Plastic and reconstructive surgery/PSEF CD journals” Radiesse is a versatile facial injectable used for cosmetic improvements and long-term collagen production, with careful dosing needed to prevent complications.
50 citations
,
December 2005 in “European Journal of Immunology” RXRα is crucial for proper immune response and links diet to immune function.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
11 citations
,
April 2021 in “Advanced synthesis & catalysis” PXX is an effective and affordable photocatalyst for creating new chemical bonds in organic synthesis.
143 citations
,
May 2002 in “PubMed” LGD1069 effectively prevents breast tumors in mice without toxicity.
8 citations
,
March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
1 citations
,
September 2021 in “Cureus” The rs1128977 gene variant may affect cholesterol and body measurements.
2 citations
,
November 2004 in “Blood” RXRa is crucial for Th2 immune cell development and may link nutrition to immune health.
34 citations
,
July 2011 in “International journal of pharmaceutics” Ion-paired risedronate significantly increases skin penetration without irritation compared to risedronate alone.
11 citations
,
February 2023 in “British Journal of Pharmacology” Isoxazole 9 (ISX9) may help regrow hair by activating certain cell signals.
2 citations
,
September 2017 in “Journal of Zoo and Wildlife Medicine” An addax had skin cancer that spread to lymph nodes and was euthanized.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
September 2022 in “Research Square (Research Square)” Increasing Rps14 helps grow more inner ear cells and repair hearing cells in baby mice.
RXR and RAR proteins in skin may help with cell growth, hair growth, and gland function.
35 citations
,
October 2015 in “International Journal of Pharmaceutics” Tiny particles carrying roxithromycin can effectively target and deliver the drug to hair follicles without irritation.