19 citations
,
February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
81 citations
,
July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
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.
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.
1 citations
,
October 2022 in “JCI insight” Deleting the BRD4 protein in certain skin cells causes hair loss and skin inflammation.
April 2017 in “Journal of Dermatological Science” B cells can both help and hinder the body's defense against melanoma.
65 citations
,
March 2004 in “Journal of Clinical Investigation” Inhibiting ornithine decarboxylase may help prevent certain skin cancers.
26 citations
,
October 1998 in “Experimental Dermatology” A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
9 citations
,
September 2022 in “Journal of Clinical Investigation” Replacing defective mesenchymal cells with normal ones fixes thymic growth issues in 22q11.2DS mouse models.