1 citations
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July 2023 in “Nature communications” MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.
September 2022 in “Research Square (Research Square)” 5% topical minoxidil improves hair density and quality in monilethrix patients.
218 citations
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September 2012 in “Gastroenterology” Colorectal cancer development involves both genetic changes and epigenetic alterations like DNA methylation and microRNA changes.
August 2022 in “International Journal of Molecular Sciences” DNA methylation controls lncRNA2919, which negatively affects hair growth.
97 citations
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March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
72 citations
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July 2012 in “Journal of Investigative Dermatology” Mice lacking a key DNA methylation enzyme in skin cells have a lower chance of activating stem cells necessary for hair growth, leading to progressive hair loss.
35 citations
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August 2009 in “Differentiation” Desmoglein 4 is controlled by specific proteins that affect hair growth.
A specific gene mutation causes monilethrix in this family, and minoxidil treatment improves hair condition.
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January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
2 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
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January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
20 citations
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December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
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February 2022 in “Biomedicines” Testosterone treatment may change estrogen receptor methylation in AFAB individuals.
54 citations
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January 1995 in “Human Molecular Genetics” Monilethrix is linked to a gene cluster on chromosome 12.
21 citations
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March 2003 in “Clinical and Experimental Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
158 citations
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December 2002 in “Development” Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.
46 citations
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May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” Significant progress was made in understanding PXE, but effective treatments are still needed.
Finasteride may help treat childhood brain tumors by activating certain genes.
175 citations
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August 1997 in “Nature Genetics”
13 citations
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June 2006 in “Pituitary” A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
December 2024 in “Pediatrics in Review” Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
April 2019 in “Journal of Investigative Dermatology” Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
1 citations
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September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
3 citations
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January 2017 in “Dermatology online journal” Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.
4 citations
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February 2022 in “International Journal of Molecular Sciences” Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
18 citations
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September 2018 in “Experimental physiology” Electro-acupuncture may help treat PCOS in rats by changing brain DNA methylation.
September 2013 in “Helda (University of Helsinki)” Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
3 citations
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January 2011 in “生物医学研究杂志:英文版” A new mutation in the KRT86 gene causes monilethrix in a Han family.