10 citations
,
January 2013 in “Journal of skin cancer” PKC ε increases hair follicle stem cell turnover and may raise skin cancer risk.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Esrp1 is important for skin health by helping form and maintain the skin barrier.
November 2022 in “Annals of Translational Medicine” Immune activities and specific genes are important in male pattern baldness.
5 citations
,
January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
33 citations
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October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
4 citations
,
July 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” BLMP-1 is important for regular molting and gene expression cycles in worms.
18 citations
,
June 2016 in “Clinical and Experimental Dermatology” Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
2 citations
,
June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
37 citations
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January 2010 in “Human Molecular Genetics” FTase and GGTase-I are essential for skin keratinocyte health.
November 2025 in “Frontiers in Immunology” SQSTM1 gene issues may increase the risk of alopecia areata.
18 citations
,
August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
52 citations
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April 2012 in “Journal of Investigative Dermatology” KRTAP2 genes are crucial for hair structure and may impact hair disorders and treatments.
40 citations
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May 2005 in “Journal of Cell Science” Truncated LTBP-1 disrupts TGF-β signaling, affecting hair growth.
11 citations
,
March 2014 in “Journal of Investigative Dermatology” Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.
December 2024 in “Journal of Cosmetic Dermatology” ME1 and PPAR signaling may influence hair loss in androgenetic alopecia.
75 citations
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January 2004 in “Molecular and Cellular Biology” XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
12 citations
,
January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
38 citations
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January 2014 in “Journal of Dermatological Science” Krtap11-1 is important for hair strength and structure.
23 citations
,
March 2017 in “Journal of Investigative Dermatology” An artificial lipid barrier can restore hair growth in cases of SCD1 deficiency.
38 citations
,
September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
5 citations
,
February 1981 in “Experientia” A new gene causes hairlessness and skin cysts in rats.
1 citations
,
April 2017 in “Journal of Investigative Dermatology” Abatacept may help some people with alopecia areata regrow hair.
14 citations
,
December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
1 citations
,
October 2022 in “JCI insight” Deleting the BRD4 protein in certain skin cells causes hair loss and skin inflammation.
27 citations
,
January 2000 in “Developmental Dynamics” Mutations in the Whn gene affect hair keratin gene expression differently.
April 2010 in “The Journal of Urology” Human prostate cells produce more WISP1/CCN4 when there's not enough oxygen.
April 2020 in “International journal of research in dermatology” An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
14 citations
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July 2001 in “American Journal of Human Genetics” Haplogroup X found in Altaian population supports Amerindian origin.
July 2022 in “Journal of Investigative Dermatology” Arg1+ macrophages may play a role in Alopecia Areata, offering new treatment targets.