1 citations
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March 2022 in “Journal of biological chemistry/The Journal of biological chemistry” Removing a specific gene in certain skin cells causes hair loss in mice by disrupting hair follicle development.
10 citations
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December 1990 in “Archives of Dermatological Research”
72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
May 2015 in “European Journal of Paediatric Neurology” ECCL should be considered in patients with specific skin and eye lesions.
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.
27 citations
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February 2020 in “EMBO Reports” MEX3A is crucial for maintaining intestinal stem cells in mice.
232 citations
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January 2002 in “Mechanisms of development” Different enzymes are active in different parts of developing mouse organs.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Elf5 is important for skin stem cell growth and could help treat skin and hair problems.
65 citations
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June 2003 in “EMBO journal” Noggin overexpression delays eyelid opening by affecting cell death and skin cell development.
June 2009 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Lrig1 marks a unique group of stem cells in mouse skin that can become different skin cell types.
1 citations
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September 2020 in “Journal of Dermatological Science” The gene LRRC15 is more active in balding areas of the scalp compared to non-balding areas.
Proper niche formation in Drosophila requires Slit-Robo signaling for cell migration.
60 citations
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July 2014 in “Autophagy” The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
10 citations
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March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
2 citations
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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
1 citations
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April 2008 in “Pigment Cell & Melanoma Research” Foxn1 is essential for hair pigmentation by directing pigment transfer to hair cells.
November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
14 citations
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January 2020 in “Korean Journal of Family Medicine” Early diagnosis of leprosy is crucial to prevent disabilities and spread, even in non-endemic areas.
April 2023 in “Journal of Investigative Dermatology” CD8+ T cells attack hair follicle stem cells, causing scarring and hair loss.
2 citations
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June 2012 in “Journal of Dermatological Science” The gene HDC is important for the development of hair follicles in newborn mice.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” The gene Tfap2b is essential for creating a type of stem cell in zebrafish that can become different pigment cells.
73 citations
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April 2013 in “Stem cells” LGR5 helps maintain corneal cell characteristics and prevents unwanted changes by controlling specific cell signaling pathways.
20 citations
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October 2021 in “PLoS ONE” Newborn skin is uniquely prepared to adapt to new environments compared to adult skin.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
11 citations
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May 1998 in “Child's nervous system” A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.
February 2022 in “Research Square (Research Square)” LGR5 is a marker found in hair follicle stem cells in various species and is important for hair growth and skin repair.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
15 citations
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June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
30 citations
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January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
29 citations
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December 2004 in “Developmental biology” cDermo-1 causes dense skin, feathers, and scales in chickens.