2 citations
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August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
9 citations
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January 1997 in “Horticultura: Revista de industria, distribución y socioeconomía hortícola: frutas, hortalizas, flores, plantas, árboles ornamentales y viveros” PRC2 is not essential for hair follicle stem cell maintenance or hair growth.
49 citations
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October 1989 in “Genomics” Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
July 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The structure of SRD5A reveals how it reduces steroids, aiding drug design for related health conditions.
Mutations in the hairless protein gene cause hair loss.
25 citations
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May 1994 in “Journal of Investigative Dermatology” Researchers found a new gene, hacl-1, that is active in mouse hair follicles during hair growth and may be important for hair biology.
30 citations
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February 1996 in “Journal of Investigative Dermatology” 2 citations
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November 2004 in “Blood” RXRa is crucial for Th2 immune cell development and may link nutrition to immune health.
RXR and RAR proteins in skin may help with cell growth, hair growth, and gland function.
February 2025 in “International Journal of Molecular Sciences” RORA plays a key role in controlling seasonal hair molting by affecting hair follicle cell activity.
1 citations
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January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Skin tumors with CYLD cutaneous syndrome show more NF-κB activity and less organized collagen.
November 2023 in “Frontiers in pharmacology” Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
3 citations
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July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
54 citations
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January 1995 in “Human Molecular Genetics” Monilethrix is linked to a gene cluster on chromosome 12.
42 citations
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September 2003 in “Journal of Investigative Dermatology” A missing mK6irs1 gene causes hair loss in mice.
75 citations
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September 2016 in “EMBO journal” PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.
RNase L hinders hair follicle regeneration by altering immune signals.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
13 citations
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April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
4 citations
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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.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
8 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” The near-naked hairless mutation causes hair loss but is not due to a mutation in the hairless gene itself.
January 2024 in “Wiadomości Lekarskie” Low-penetration genes might help personalize colorectal cancer prevention.
546 citations
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February 2008 in “PLANT PHYSIOLOGY” OsPHR2 gene causes excessive phosphate in rice shoots, affecting plant growth and root development.
October 2007 in “Journal of Investigative Dermatology” The meeting highlighted the genetic basis of female pattern hair loss and various skin health insights.
16 citations
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September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin organoids with NCSTN mutation show changes in hair follicle development and higher inflammation, key features of Hidradenitis Suppurativa.
13 citations
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March 2021 in “Frontiers in oncology” Reflectance confocal microscopy reliably identifies skin cancer features like horizontal skin tissue sections.