50 citations
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February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
48 citations
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November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
44 citations
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December 2005 in “Journal of Investigative Dermatology” Certain genetic markers, especially the MICA gene, are linked to alopecia areata.
44 citations
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August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
41 citations
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November 2011 in “The Journal of Dermatology” Some hair loss disorders are caused by genetic mutations affecting hair growth.
37 citations
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April 2017 in “npj Regenerative Medicine” PDGF signaling is crucial for maintaining and renewing hair follicle stem cells, which could help treat hair loss.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
36 citations
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October 1996 in “Dermatologic Clinics” Mice are useful for researching human hair loss and testing treatments, despite some differences between species.
31 citations
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May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
30 citations
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June 2014 in “Seminars in Immunology” Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
29 citations
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February 2001 in “Proceedings of the National Academy of Sciences” A specific DNA region controls skin cell gene expression by working with certain proteins.
29 citations
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March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
28 citations
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March 2010 in “British Journal of Dermatology” Genetic marker rs12558842 strongly linked to male hair loss.
28 citations
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February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
26 citations
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February 2020 in “Frontiers in genetics” The CORT, FGF5, and CD36 genes are crucial for the cold weather adaptation of Yanbian cattle.
26 citations
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May 2019 in “PLOS ONE” Hair loss patients have different microbes in hair follicles, possibly affecting hair loss.
26 citations
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September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
25 citations
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September 2018 in “Molecular Biology of the Cell” Blocking Wnt/β-catenin signaling with EGF receptor is necessary for proper hair growth.
25 citations
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August 2014 in “Endocrinology” Researchers created a mouse model of a type of rickets that does not cause hair loss.
25 citations
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January 2000 in “Hormone Research in Paediatrics” Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
22 citations
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August 2021 in “Frontiers in medicine” Immune cells in Hidradenitis suppurativa become more inflammatory and may be important for treatment targets.
22 citations
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December 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” A mouse gene mutation increases the risk of skin cancer.
18 citations
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June 2017 in “Proceedings of the National Academy of Sciences of the United States of America” A gene called Gk5 controls lipid production in the skin and affects hair growth.
18 citations
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February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
17 citations
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August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
16 citations
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July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
16 citations
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March 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The Notch signaling pathway helps in mouse hair development through a noncanonical mechanism that does not rely on RBPj or transcription.
14 citations
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January 2018 in “Endocrine” Cantú syndrome may be linked to pituitary adenomas.
13 citations
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July 2020 in “Stem Cell Research & Therapy” Young donor, early passage stem cells have the highest stemness.
13 citations
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January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.