1 citations
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February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” A peptide from hair follicle stem cells promotes hair growth by activating specific skin cells.
3 citations
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January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
102 citations
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August 2008 in “Genes & Development” Laminin-511 is crucial for early hair growth and maintaining important hair development signals.
5 citations
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February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
34 citations
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July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
3 citations
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March 2017 in “Pediatric Dermatology” FOXN1 duplication can cause excessive hair growth.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
10 citations
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November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
Pygo2 is important for early growth and progression of intestinal tumors, and could be a target for treating cancers with certain mutations.
16 citations
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March 2013 in “The Journal of Dermatology” Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
14 citations
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May 2016 in “International Journal of Molecular Sciences” PP2Acα is essential for proper hair and skin development.
15 citations
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June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
24 citations
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December 2016 in “Stem Cell Research & Therapy” P311 helps skin stem cells become myofibroblast-like cells, aiding wound healing.
September 2016 in “Journal of Dermatological Science” Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
47 citations
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April 2000 in “Experimental Dermatology” A new gene mutation causes a rare type of hair loss.
15 citations
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October 1976 in “Biochemical Journal” Naked-mouse hair lacks certain proteins and has less soluble fibril.
July 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” FAKΔe4 helps cells sense and respond to different stiffness levels in their environment.
9 citations
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November 2007 in “Blood” TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
4 citations
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May 2023 in “Cells” Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
15 citations
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December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
May 2005 in “Molecular Carcinogenesis” mrp/plf-mRNA can indicate tumor-promoting effects in skin.
53 citations
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August 2019 in “American journal of human genetics” FOXN1 gene variants cause low T cells and immune issues from birth.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
37 citations
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January 1993 in “Journal of Investigative Dermatology”
8 citations
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December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
January 2015 in “Journal of Neuromuscular Diseases” Danon disease can be hard to diagnose due to non-specific symptoms.
37 citations
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June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.