October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
6 citations
,
June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Not having enough cystatin M/E protein causes less hair growth and dry skin.
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
15 citations
,
January 1991 in “Mammalian Genome” 101 citations
,
October 2007 in “Journal of Biological Chemistry” Reduced matriptase activity causes skin and hair issues in both humans and mice.
17 citations
,
June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” The G60S Connexin43 mutation causes hair growth issues and poor hair quality in mice, similar to human ODDD patients.
4 citations
,
December 2016 in “Blood” A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
March 2026 in “Journal of Investigative Dermatology”
1 citations
,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
11 citations
,
February 1982 in “Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis” A new method can detect mutations in mice by observing changes in hair follicle cells.
November 2022 in “Journal of Investigative Dermatology” Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
6 citations
,
January 2022 in “BMC Medical Genomics” Different gene mutations cause different types of ichthyosis, with some new mutations found.
4 citations
,
January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
125 citations
,
August 2003 in “Development” Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.
15 citations
,
June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
20 citations
,
October 2005 in “Archives of Dermatological Research” 7 citations
,
August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
97 citations
,
March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
97 citations
,
March 2010 in “The American Journal of Human Genetics” A mutation in the KRT74 gene causes tightly curled hair.
80 citations
,
June 1997 in “The American Journal of Human Genetics” 1 citations
,
January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
33 citations
,
February 2012 in “British Journal of Dermatology” Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
3 citations
,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
August 2015 in “International Journal of Genetics and Molecular Biology” Certain genetic markers may increase or decrease prostate cancer risk.
13 citations
,
February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
37 citations
,
April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.