62 citations
,
January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.
December 2022 in “Biochemical and Biophysical Research Communications” HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
4 citations
,
August 2006 in “The Journal of Dermatology” HLA can be linked to autoimmune hepatitis.
44 citations
,
December 2005 in “Journal of Investigative Dermatology” Certain genetic markers, especially the MICA gene, are linked to alopecia areata.
26 citations
,
March 2006 in “Endocrine, metabolic & immune disorders. Drug targets” This enzyme helps metabolize fatty acids and isoleucine, and could be key in treating neurological diseases and certain cancers.
22 citations
,
January 1990
February 2025 in “Journal of Investigative Dermatology” The ZIP13 variant is linked to abnormal hair quality.
November 2011 in “Molecular Cancer Therapeutics” The Hedgehog signaling pathway is linked to cancer development, and targeting it with inhibitors shows promise but faces challenges like resistance.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
32 citations
,
August 2016 in “Science Signaling” Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
July 2025 in “Journal of Investigative Dermatology” Reduced AhR signaling in HS tunnels leads to persistent inflammation and microbial imbalance.
9 citations
,
July 2014 in “PubMed” Different S100 proteins have specific roles in various parts of the hair follicle.
January 2006 in “OpenCommons at University of Connecticut (University of Connecticut)” Overexpressing AVP1 and AtNHX1 in plants improves salt tolerance and root hair development.
52 citations
,
October 1999 in “Developmental Dynamics” Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
37 citations
,
April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
26 citations
,
August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
April 2010 in “The Journal of Urology” Human prostate cells produce more WISP1/CCN4 when there's not enough oxygen.
4 citations
,
January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
2 citations
,
August 2020 in “Scientific reports” Genes related to keratin, skin cell differentiation, and immune functions are key in hedgehog skin and spine development.
60 citations
,
October 2020 in “Nature Communications” AP-1 and TGFß work together to drive resistance in basal cell carcinoma, suggesting new treatment options.
67 citations
,
August 2004 in “Endocrinology” A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
22 citations
,
December 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” A mouse gene mutation increases the risk of skin cancer.
21 citations
,
January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
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.
November 2025 in “Clinical Cosmetic and Investigational Dermatology” LIPH mutations cause woolly hair in some Chinese people.
26 citations
,
August 2019 in “Stem Cell Research & Therapy” PBX1 helps hair stem cells grow and change by turning on certain cell signals and preventing cell death, which may be useful for hair regrowth treatments.
10 citations
,
October 2014 in “Journal of Ovarian Research” The IRS-2 Asp/Asp genotype may increase the risk of PCOS in Chinese women, especially if they are not obese.
December 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Hidradenitis suppurativa may be a type of autoinflammatory skin disease linked to gene mutations and immune system issues.