11 citations
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October 2017 in “Oncotarget” Gsdma3 affects hair growth by controlling Wnt5a, which influences hair cell development.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
33 citations
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July 2007 in “Journal of cell science” Miz1 is essential for proper hair structure and growth.
56 citations
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November 2007 in “Molecular and cellular endocrinology” Two enzymes regulate androgen receptor activity, affecting treatments for androgen insufficiency and benign prostatic hyperplasia.
43 citations
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September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
59 citations
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April 2016 in “Cell Reports” EdnrB signaling helps melanocyte stem cells regenerate and could be targeted to treat pigmentation issues.
1 citations
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April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
66 citations
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October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Robertsonian translocation can cause recurrent miscarriages.
28 citations
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January 2012 in “Biological & pharmaceutical bulletin” Hairless protein can both repress and activate vitamin D receptor functions, affecting gene regulation.
January 2005 in “Enlighten: Publications (The University of Glasgow)” Melanocyte pathology requires keratinocyte hyperplasia and regulation dysfunction.
3 citations
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August 2024 in “The Journal of Cell Biology” Actin filaments help stabilize and reshape cell membranes.
12 citations
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January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
14 citations
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September 1999 in “Mammalian genome” The scraggly mutation causes hair loss and skin defects in mice.
6 citations
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July 2018 in “Scientific Reports” Methamphetamine affects gene expression in rat whisker follicles, with key genes linked to addiction.
October 2014 in “Cancer research” Blocking mTORC1 reduces skin tumor growth in mice.
January 2024 in “Wiadomości Lekarskie” The ABI1 gene contributes to prostate cancer progression and treatment resistance.
14 citations
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May 2019 in “Human gene therapy” MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
149 citations
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June 2010 in “The FASEB journal” miR-31 regulates hair growth by controlling gene expression in hair follicles.
5 citations
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January 1998 in “Clinical and experimental dermatology” Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
1 citations
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December 2023 in “International journal of molecular sciences” miR-199a-3p controls hair growth and is linked to alopecia areata.
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.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
123 citations
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November 2012 in “Stem cells” MicroRNA-302 helps improve the conversion of body cells into stem cells by blocking NR2F2.
24 citations
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February 2011 in “The American journal of pathology” AIRE protein, defective in APECED patients, is found in skin and hair cells and interacts with cytokeratin 17.
21 citations
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May 2024 in “American Journal of Medical Genetics Part A” Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
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November 2022 in “Skin research and technology” 5% topical minoxidil improves hair density and quality in monilethrix patients.
91 citations
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May 2005 in “The Journal of Clinical Endocrinology & Metabolism” A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
5 citations
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June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
1 citations
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June 2022 in “Experimental dermatology” The SHJH hr mice with a mutated Hr gene show signs of faster skin aging due to poor antioxidative protection.