May 2022 in “Frontiers in Cell and Developmental Biology” miR-29a-5p prevents the formation of early hair structures by targeting a gene important for hair growth and is regulated by a complex network involving lncRNA627.1.
11 citations
,
April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
41 citations
,
October 2001 in “Experimental Dermatology” The nude gene is important for skin and hair development.
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
1 citations
,
April 2016 in “Journal of Investigative Dermatology” NLRP1 helps melanoma tumors grow by boosting inflammasome activation and reducing caspase-3 activity.
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
17 citations
,
June 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
7 citations
,
January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” NIPP1 is important for healthy skin and could help treat skin inflammation.
2 citations
,
September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
3 citations
,
April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
23 citations
,
July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
37 citations
,
October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
10 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” FP-1 is a key protein in rat hair growth, active only during the growth phase.
86 citations
,
June 1998 in “Journal of Investigative Dermatology” The hairless gene mutation causes baldness by disrupting hair follicle structure.
52 citations
,
April 2013 in “Developmental Cell” Brg1 is crucial for hair growth and skin repair by maintaining stem cells and promoting regeneration.
1 citations
,
December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
9 citations
,
November 2007 in “Blood” TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.
July 2025 in “Frontiers in Medicine” Mutations in the LIPH gene cause woolly hair in a child.
37 citations
,
August 1999 in “Journal of Investigative Dermatology” A specific gene mutation causes complete hair loss without other health issues.
21 citations
,
April 1982 in “Genetics Research” Mice with the naked gene have missing or abnormal hair cells.
43 citations
,
January 2016 in “Development” LHX2 is essential for hair follicle development, controlled by NF-κB and TGFβ2 signaling.
37 citations
,
August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
14 citations
,
April 2011 in “Journal of the American Academy of Dermatology” Researchers found a gene mutation responsible for a rare hair loss condition.
13 citations
,
June 2020 in “International Journal of Molecular Sciences” HNG helps hair grow by keeping hair in the growth phase longer.
3 citations
,
January 2019 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.
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.