79 citations
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March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
5 citations
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January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
32 citations
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January 2000 in “International Journal of Cancer” Transglutaminase-3 is often reduced in esophageal cancer.
76 citations
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June 2015 in “Journal of biomedical science” Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
January 2006 in “Dianzi xianwei xuebao” Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
68 citations
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December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” HOXC13 is essential for hair and nail development by regulating Foxn1.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
May 2022 in “Research Square (Research Square)” Nestin marks cells that can become a specific type of skin cell in hair follicles of both developing and adult mice.
2 citations
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September 2017 in “Journal of Investigative Dermatology” Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
13 citations
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February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
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.
38 citations
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April 2017 in “PLOS Genetics” GRHL3 is important for controlling gene activity in skin cells during different stages of their development.
The gene Endothelin 3 makes mice's fur darker by increasing pigment cells and pigment levels.
April 2010 in “The FASEB Journal” Knockout mice showed anemia and hair loss, suggesting other ways exist for iron absorption.
12 citations
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August 1984 in “Genetics Research” The N gene affects the protein makeup of mouse hair.
Lnc056 helps hair follicle stem cells grow by increasing TRIP6 expression.
NuMA-microtubule interactions are vital for proper skin structure formation and function.
24 citations
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September 2023 in “Science Advances” Mettl3 is essential for normal tissue development and self-renewal by regulating gene expression.
11 citations
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July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
2 citations
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March 2019 in “Journal of Histochemistry and Cytochemistry” Neuronatin is found in specific cells within rat testis, hair follicles, tongue, and pancreas, suggesting it has various roles in tissue development and function.
21 citations
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September 2013 in “Pediatric Dermatology” Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
14 citations
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September 1999 in “Journal of Investigative Dermatology” Lack of TrkC receptor delays hair follicle development.
14 citations
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February 2009 in “PLoS ONE” Keratinocytes help manage skin nitrogen metabolism, varying by age and skin area.
April 2023 in “Journal of Investigative Dermatology” CD8+ T cells attack hair follicle stem cells, causing scarring and hair loss.
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.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
January 2016 in “Methods in molecular biology” HAP stem cells in hair follicles could help repair nerves and spinal cords.
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19 citations
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August 2013 in “Journal of Molecular Neuroscience” July 2025 in “Journal of Investigative Dermatology” Nelfb is essential for dermal fat development and survival.