40 citations
,
February 2005 in “Fertility and Sterility” Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
22 citations
,
January 1999 in “Dermatology” The condition might be caused by genetic changes after birth.
34 citations
,
November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
September 2023 in “Journal of the American Academy of Dermatology” 3 citations
,
May 1994 in “Journal of Pharmacology and Experimental Therapeutics” Minoxidil sulfate affects Cl channels, while minoxidil affects K channels in cells.
April 2016 in “Journal of The American Academy of Dermatology” People with Down syndrome are more likely to experience hair loss, and using dermoscopy can help diagnose it.
April 2026 in “Frontiers in Pharmacology” Many medications may be linked to cognitive disorders, but most lack warnings on labels.
13 citations
,
September 2019 in “Clinical, Cosmetic and Investigational Dermatology” Early treatment of EPDS can improve outcomes and reduce recurrence risk.
April 2024 in “African Journal of Biological Sciences” The patient with lupus and Degos' disease showed significant improvement with treatment.
5 citations
,
June 2024 in “Phenomics” 77 citations
,
September 1983 in “Acta Paediatrica” Dexamethasone effectively normalizes elevated steroid levels in girls with premature adrenarche.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
1 citations
,
November 2024 in “European Journal of Endocrinology” Higher childhood DHEAS levels are linked to advanced puberty and DNA changes.
195 citations
,
November 2001 in “The Journal of Cell Biology” Desmocollin 1 is essential for strong skin and proper skin function.
76 citations
,
January 1998 in “Mammalian Genome”
May 2025 in “The Journal of Rheumatology” Early recognition and a team approach are crucial for managing diffuse alveolar hemorrhage in antiphospholipid syndrome.
25 citations
,
June 2019 in “Endocrine Related Cancer” Mutations in certain receptors can cause diseases and offer new treatment options.
January 2026 in “Biomaterials”
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
9 citations
,
August 2021 in “Biomedicines” 17β-estradiol boosts APE1/Ref-1 secretion in cells and mice via a calcium-dependent pathway.
92 citations
,
May 2004 in “Journal of Investigative Dermatology”
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
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.
January 2016 in “The Korean Journal of Internal Medicine” Doxazosin may cause breast enlargement and pain in men.
6 citations
,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
17 citations
,
September 2000 in “Journal of dermatology” A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
1 citations
,
September 2024 in “Journal of Clinical & Translational Endocrinology” PCOS women have more severe metabolic issues and higher androgen levels than hyperandrogenic women without PCOS.
Scalp lesions in discoid lupus are more common in women and linked to other autoimmune diseases.
2 citations
,
May 2023 in “Journal of Advanced Research” Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
81 citations
,
July 2012 in “Translational Psychiatry” Memantine may slightly improve memory in people with Down syndrome, but more research is needed.