A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
September 2002 in “Research Repository (Kingston University London)” Mimicking the steroid A-ring may help create effective enzyme inhibitors for prostate disease treatment.
July 2025 in “Malaria Journal” Resolving malaria-related lung issues doesn't rely on Alox12 and leaves some inflammation.
18 citations
,
June 2001 in “Journal of Investigative Dermatology” Adding a specific gene to skin cells can help treat skin disorders like psoriasis.
5 citations
,
September 2021 in “Journal of Medical Biochemistry” wAMD patients have higher oxidative stress, suggesting antioxidant treatment may help.
April 2024 in “Communications biology” Enzymes involved in Vitamin A metabolism affect hair growth and type in mice.
28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
140 citations
,
April 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzyme 25 Hydroxyvitamin D 1 α-Hydroxylase is essential for healthy skin and recovery after skin damage.
5 citations
,
January 2021 in “Daru” A woman had severe reactions to methotrexate, including skin issues and organ problems, but improved after 38 days in the hospital.
48 citations
,
March 2003 in “International Journal of Cancer” DMBT1 and galectin-3 may help suppress epithelial skin cancer.
232 citations
,
January 2002 in “Mechanisms of development” Different enzymes are active in different parts of developing mouse organs.
1 citations
,
April 2018 in “Journal of Investigative Dermatology” Oleoylethanolamide (OEA) safely boosts fat production in skin cells and may help treat dry skin and reduce inflammation.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
467 citations
,
May 1999 in “Molecular Cell” Activating c-Myc in skin causes rapid cell growth and changes, but these effects are reversible.
April 2023 in “Journal of Investigative Dermatology” Acne patients have higher skin mTORC1 activity, which is reduced by isotretinoin treatment.
2 citations
,
August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
100 citations
,
May 2006 in “American Journal Of Pathology” Matriptase is crucial for skin barrier, hair growth, and may contribute to skin cancer.
218 citations
,
October 2013 in “Proceedings of the National Academy of Sciences of the United States of America” Mice lacking the PPARγ gene in their fat cells had almost no fat tissue, severe metabolic problems, and abnormal development of other fat-related tissues.
6 citations
,
December 2022 in “Anais Brasileiros de Dermatologia” 6 citations
,
June 2012 in “PloS one” A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
50 citations
,
September 2023 in “Biomarker Research” S100A6 is important for cell functions and can help diagnose and treat diseases.
April 2017 in “Journal of Investigative Dermatology” Deleting Crif1 in mouse skin disrupts skin balance and hair growth.
27 citations
,
July 2017 in “European Journal of Dermatology” Certain microRNAs are linked to various skin diseases and could be used to diagnose and treat these conditions.
1 citations
,
December 2023 in “Indian Dermatology Online Journal” Steatocystoma multiplex causes recurring skin cysts and needs early recognition for better management.
48 citations
,
September 2011 in “British Journal of Dermatology” Epigenetic changes in blood cells may contribute to alopecia areata.
5 citations
,
December 1978 in “PubMed” Malabsorption can cause skin issues like pigmentation changes and hair loss, which improve with treatment.
35 citations
,
October 2017 in “Trends in Molecular Medicine” Mice with enhanced regeneration abilities may help develop new regenerative medicine therapies.
May 2004 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” Vitamin D affects Msx1 protein expression and may influence mineralized tissue health.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
3 citations
,
April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.