16 citations
,
July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
13 citations
,
August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
4 citations
,
December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
1 citations
,
October 2025 in “International Journal of Molecular Sciences” Mutating the gmds gene in zebrafish increases hair cell numbers and regeneration.
1 citations
,
September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
July 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” A mother and daughter have a rare genetic hair loss disorder with no effective treatment.
19 citations
,
May 2016 in “Biology Direct” A new method, iSiMPRe, effectively identifies key protein regions in cancer genes, highlighting potential drug targets.
20 citations
,
October 2005 in “Archives of Dermatological Research” 10 citations
,
January 2014 in “Journal of Pediatric Endocrinology and Metabolism” Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
4 citations
,
October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
30 citations
,
October 2009 in “Journal of Veterinary Internal Medicine” A Pomeranian dog had rickets due to a new gene mutation, leading to severe symptoms and euthanasia.
Researchers made a mouse model with curly hair and hair loss by editing a gene.
January 2022 in “Mammalian Genome” The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.
69 citations
,
May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
5 citations
,
June 2014 in “Der Hautarzt” Genetic testing can identify causes of rare hair loss disorders in children, but no treatments exist.
46 citations
,
May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” Significant progress was made in understanding PXE, but effective treatments are still needed.
43 citations
,
December 2013 in “Seminars in Cell & Developmental Biology” Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
1 citations
,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
January 2024 in “Circulation” Certain genetic mutations can lower bad cholesterol and reduce heart disease risk, leading to effective cholesterol-lowering drugs.
Keratinocytes can reverse the effects of the GNAQ oncogene, inhibiting melanoma cell growth.
22 citations
,
August 2020 in “Cells” TGM3 is important for skin and hair structure and may help diagnose cancer.
2 citations
,
July 2021 in “Genes” A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
August 2020 in “Pakistan Journal of Zoology” A new mutation in the Hairless gene causes hair loss in two Pakistani families.
13 citations
,
July 2012 in “Pigment Cell & Melanoma Research” A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
30 citations
,
June 2021 in “British Journal of Dermatology” Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
260 citations
,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
95 citations
,
February 2019 in “The New England Journal of Medicine” Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
76 citations
,
June 2015 in “Journal of biomedical science” Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
44 citations
,
February 2012 in “The journal of neuroscience/The Journal of neuroscience” Mutations in the PTPRQ gene cause significant balance issues in mice due to hair bundle defects in the inner ear.