153 citations
,
June 2015 in “GenomeBiology.com” The environment around the time of conception can change the VTRNA2-1 gene in a way that lasts for years and may affect disease risk.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
2 citations
,
January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
7 citations
,
April 2000 in “Mammalian Genome” A new mutation in mice causes crooked whiskers and messy hair.
December 2015 in “PLOS Genetics” 5 citations
,
August 2021 in “Experimental dermatology” Overexpressing Merkel cell virus proteins in human hair follicles can create clusters of cells that resemble Merkel cell cancer.
175 citations
,
September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
11 citations
,
April 2019 in “Bioscience Reports” Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
4 citations
,
September 2010 in “Journal of Dermatological Science” A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
3 citations
,
December 2014 in “Annals of Laboratory Medicine” A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.
7 citations
,
August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
37 citations
,
June 2004 in “Human molecular genetics online/Human molecular genetics” The HCR gene contributes to psoriasis risk.
37 citations
,
August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
34 citations
,
September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
May 2024 in “LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas)” Certain gene combinations may affect prostate cancer risk, and GSTP1 methylation is linked to tumor aggressiveness.
10 citations
,
January 2010 in “Veterinary pathology” A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.
23 citations
,
May 2013 in “Virology” HPV16 oncogenes disrupt the normal activity of hair follicle stem cells.
5 citations
,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
11 citations
,
February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
The naked mutation in mice causes hair loss and helps identify keratin genes.
40 citations
,
September 2004 in “Biomacromolecules” The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.
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.
February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
June 2023 in “GSC Advanced Research and Reviews” Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
19 citations
,
July 2020 in “EBioMedicine” A gene variant increases the risk of a type of hair loss by affecting hair protein production.
September 2006 in “Experimental Dermatology” Targeting multiple pathways and understanding genetic mutations are crucial for effective melanoma therapy.
January 2026 in “BMC Veterinary Research” A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.