94 citations
,
April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
70 citations
,
March 2019 in “The journal of immunology/The Journal of immunology” Short-chain fatty acids from *Cutibacterium acnes* cause skin inflammation, contributing to acne.
66 citations
,
May 2021 in “Science Advances” Different scaffold patterns improve wound healing and immune response in mouse skin, with aligned patterns being particularly effective.
61 citations
,
December 2016 in “The EMBO Journal” The study showed that hair follicle stem cells can maintain and organize themselves in a lab setting, keeping their ability to renew and form hair and skin.
59 citations
,
June 2022 in “Frontiers in medicine” There are still challenges in diagnosing and treating chronic skin diseases, but there is hope for future improvements.
58 citations
,
February 2021 in “Mayo Clinic Proceedings” The conclusion is that individual differences in COVID-19 severity are influenced by factors like age, sex, race, and genetics, which are important for personalized medicine.
53 citations
,
September 2019 in “American journal of human genetics” FOXN1 gene variants cause low T cells and immune issues from birth.
53 citations
,
June 2012 in “Annales d'Endocrinologie” The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
49 citations
,
January 2003 in “American Journal of Clinical Dermatology” Effective management of children's hair loss involves accurate diagnosis, various treatments, and supportive care.
48 citations
,
June 2020 in “Current Rheumatology Reports” Different types of fibroblasts play various roles in both healthy and diseased tissues, and understanding them better could improve treatments for fibrotic diseases.
44 citations
,
November 2009 in “Archives of Dermatology” CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
42 citations
,
January 2018 in “Expert review of precision medicine and drug development” Drug repositioning is becoming more targeted and efficient with new technologies, offering personalized treatment options and growing interest in the field.
40 citations
,
April 2014 in “Genes & Development” Hormones during pregnancy and lactation keep skin stem cells inactive, preventing hair growth.
33 citations
,
June 2016 in “Pediatric Dermatology” Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.
32 citations
,
August 2020 in “Cytokine” Type I interferons play a key role in the development of various skin diseases.
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
,
February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
25 citations
,
December 2018 in “Human Molecular Genetics” The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
25 citations
,
October 2015 in “Clinical Endocrinology” Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
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.
23 citations
,
January 2014 in “International Journal of Biological Sciences” African American men with prostate cancer have more androgen receptor mutations, which may lead to more aggressive cancer compared to Caucasian American men.
22 citations
,
March 2018 in “Experimental Dermatology” The meeting focused on understanding, diagnosing, and finding treatments for irreversible hair loss diseases.
21 citations
,
June 2016 in “Genesis” Researchers identified specific genes that are important for mouse skin cell development and healing.
20 citations
,
September 2020 in “Journal of Translational Medicine” Mesenchymal stromal cells may help treat severe COVID-19, but more research is needed to confirm their effectiveness.
20 citations
,
January 2017 in “Scientific reports” Whale genes show changes that help them live in water, like less hair and better flippers.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
19 citations
,
July 2015 in “Developmental Dynamics” The conclusion is that skin and hair patterns are formed by a mix of cell activities, molecular signals, and environmental factors.
19 citations
,
September 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
17 citations
,
August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.