MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
100 citations
,
November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
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.
62 citations
,
October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
18 citations
,
February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
11 citations
,
January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
8 citations
,
January 2012 in “JIMD reports” A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
January 2004 in “Chinese Journal of Dermatology” Injecting specific oligonucleotides can change hair growth and structure by altering a gene.
5 citations
,
July 2014 in “Acta Crystallographica Section D-biological Crystallography” Mutations in the enzyme don't significantly change how it binds to its specific substances.
87 citations
,
July 2009 in “Journal of Cell Science” Deleting the CDSN gene causes severe skin and hair problems, leading to death.
74 citations
,
October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
1 citations
,
May 2024 in “Communications Biology” Dab2 protein is crucial for hair follicle stem cell renewal and preventing early aging.
11 citations
,
October 2002 in “Genetics” A new mouse hair mutation, called hague, is semidominant and unstable, but the exact cause is unknown.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
41 citations
,
July 2016 in “Journal of Investigative Dermatology” Dysplastic nevi have unique gene expressions, making them distinct from common melanocytic nevi.
36 citations
,
July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.
21 citations
,
June 2009 in “Mammalian genome” A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
2 citations
,
May 2024 in “BMC Genomics” Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.
17 citations
,
October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
9 citations
,
January 1988 May 2017 in “The journal of immunology/The Journal of immunology” Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.
87 citations
,
January 2017 in “PLoS Genetics” Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
6 citations
,
May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
46 citations
,
September 2007 in “Journal of Investigative Dermatology”
15 citations
,
December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.