4 citations
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August 2013 in “Chinese Medical Journal” A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
65 citations
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June 2003 in “EMBO journal” Noggin overexpression delays eyelid opening by affecting cell death and skin cell development.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
November 2016 in “The Molecular Biology Society of Japan”
September 2021 in “Research Square (Research Square)” Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
52 citations
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November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
16 citations
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July 1996 in “Journal of Investigative Dermatology” 46 citations
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August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
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.
June 2025 in “International Journal of Molecular Sciences” LncRNAs play a crucial role in muscle regulation and could help develop treatments for Duchenne muscular dystrophy.
30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
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.
3 citations
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July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
October 2022 in “Research Square (Research Square)” Key genes linked to immune response are highly active in lupus-affected hair follicles.
July 2025 in “Journal of Investigative Dermatology” Nelfb is essential for dermal fat development and survival.
April 2017 in “Journal of Investigative Dermatology” The BMP/Smads pathway and Id2 gene control hair follicle stem cells, affecting their rest and growth phases.
7 citations
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January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
91 citations
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June 2011 in “The EMBO Journal” TCF/Lef1 activity is essential for proper skin cell development and renewal.
May 2017 in “Journal of The American Academy of Dermatology” PLAU and SerpinB2 affect cell death differently in various forms of leprosy and could be targets for new treatments.
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
6 citations
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March 2007 in “BioTechniques” PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
37 citations
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April 2011 in “Journal of Biological Chemistry” LEF1 interacts with Vitamin D Receptor, affecting hair follicle regeneration and this could be linked to hair loss conditions.
September 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Different fish use the same genes to regrow teeth.
May 2022 in “Frontiers in Cell and Developmental Biology” miR-29a-5p prevents the formation of early hair structures by targeting a gene important for hair growth and is regulated by a complex network involving lncRNA627.1.
6 citations
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January 2010 in “Journal of Biochemical and Molecular Toxicology” The ID2 gene can help distinguish between sensitizers and irritants in skin cells.
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.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
10 citations
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May 2012 in “PloS one” Low ERCC3 gene activity is linked to non-pigmented hair growth.
June 2008 in “The Knowledge Bank (The Ohio State University)” Smad2 and Smad3 are essential for normal skin development, and their absence causes severe skin issues and cancer.
5 citations
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December 2023 in “Current Biology” A feedback loop between LRH and RSL4 controls root hair growth in Arabidopsis.