151 citations
,
August 2011 in “The EMBO Journal” The enzyme PA-PLA1α is important for proper hair follicle development.
July 2025 in “Journal of Investigative Dermatology” Nelfb is essential for dermal fat development and survival.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
372 citations
,
December 2004 in “Nature Genetics” 25 citations
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November 2020 in “Proceedings of the National Academy of Sciences” HoxC genes are crucial for normal hair and nail development.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
5 citations
,
July 2022 in “Genes” Increasing EGR1 levels makes hair root cells grow faster.
9 citations
,
August 2021 in “Biomedicines” 17β-estradiol boosts APE1/Ref-1 secretion in cells and mice via a calcium-dependent pathway.
September 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” FOL-026 peptide can help repair blood vessels and promote growth, offering potential treatment for vascular diseases.
2 citations
,
April 2014 in “PubMed” Epidermal neural crest stem cells from hair follicles can help repair nerve injuries.
18 citations
,
February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Dopaminergic neurons in the gut have distinct subtypes, some releasing both dopamine and acetylcholine.
87 citations
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March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.
30 citations
,
January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
77 citations
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December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” Human skin cells produce proenkephalin, which changes with environmental factors and skin diseases.
98 citations
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June 2008 in “Human mutation” A genetic change in the EDAR gene causes the unique hair traits found in East Asians.
12 citations
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September 2021 in “PLoS ONE” WNT10A and EBF1 interaction affects hair growth in male-pattern baldness.
February 2009 in “Journal of Investigative Dermatology” EGFR is essential for organized skin nerve growth and branching.
1 citations
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April 2018 in “Journal of Investigative Dermatology” PRC1 is essential for proper skin development and stem cell formation by controlling gene activity.
April 2019 in “Journal of Investigative Dermatology” Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
117 citations
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April 2008 in “Developmental biology” Ectodysplasin inhibits Wnt signaling to help form hair follicles.
January 2022 in “Mammalian Genome” The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.
January 2016 in “Texas ScholarWorks (Texas Digital Library)” DORN1 receptor affects eATP-induced stomatal changes but not eADP in Arabidopsis thaliana.
10 citations
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May 2012 in “PloS one” Low ERCC3 gene activity is linked to non-pigmented hair growth.
January 2024 in “Frontiers research topics” Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
18 citations
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September 2003 in “International Journal of Cancer” EBV infection increases a specific keratin variant in carcinoma cells, possibly affecting cell structure and cancer progression.
1 citations
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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.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.