January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
11 citations
,
July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
68 citations
,
December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” HOXC13 is essential for hair and nail development by regulating Foxn1.
3 citations
,
October 2019 in “EMBO molecular medicine” Targeting NCoR1 can help treat heart enlargement and dysfunction.
14 citations
,
December 1998 in “British Journal of Cancer” Truncated hHb1 keratin may play a role in breast cancer cell transformation.
January 2002 in “Agritrop (Cirad)” The hr gene is linked to hair loss in Valle del Belice sheep.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
15 citations
,
May 2017 in “Journal of Cellular Biochemistry” The hairless protein is important for skin, hair, and may influence cancer development.
72 citations
,
November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
1 citations
,
September 2025 in “Frontiers in Immunology” HuR is essential for Treg function and preventing autoimmunity.
3 citations
,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
24 citations
,
May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
47 citations
,
September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
7 citations
,
December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
1 citations
,
December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
1 citations
,
June 2022 in “JCRPE” Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
27 citations
,
January 2000 in “Developmental Dynamics” Mutations in the Whn gene affect hair keratin gene expression differently.
8 citations
,
April 1997 in “Experimental Dermatology” hHbl gene is active in hair shaft cells and some pilomatricomas.
15 citations
,
December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
November 2005 in “PubMed” The hairless gene in Kunming mice is important for hair and skin, and shows genetic variations.
February 2024 in “Journal of Investigative Dermatology” Deleting NIPP1 in mouse skin cells causes early aging and chronic skin issues.
21 citations
,
April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
10 citations
,
August 2013 in “Experimental Dermatology” Hairless protein and putrescine regulate each other, affecting hair growth and skin balance.
1 citations
,
September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
27 citations
,
September 1999 in “Journal of Investigative Dermatology” Human skin cells contain Protease Nexin-1, and male hormones can decrease its levels, potentially affecting hair growth.
137 citations
,
September 2005 in “Proceedings of the National Academy of Sciences of the United States of America” The HR protein helps hair grow by blocking a hair growth inhibitor, aiding in hair follicle regeneration.
9 citations
,
July 2011 in “Scientific Reports” Changes in the HR gene have influenced hair growth and may lead to hair loss conditions in humans.
3 citations
,
July 2021 in “Life science alliance” PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
199 citations
,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.