28 citations
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November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
75 citations
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January 2004 in “Molecular and Cellular Biology” XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
July 2024 in “Journal of Investigative Dermatology” Squaric acid dibutylester helps hair growth by increasing certain immune cells in the skin.
Arabidopsis Formin 2 stabilizes actin filaments to aid cell-to-cell trafficking.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
VDAC2 promotes cell death in cashmere goat hair follicles through the P53 pathway.
5 citations
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December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
September 2025 in “JID Innovations” Squaric acid dibutylester promotes hair growth by activating immune cells, especially macrophages.
Lhx2 helps retinal cells respond to signals for eye development.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
33 citations
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November 2006 in “Survey of Ophthalmology” Madarosis is the loss of eyelashes and eyebrows due to various health issues and requires thorough examination to diagnose and treat the underlying cause.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Astrotactin2 affects hair follicle orientation and skin cell polarity.
18 citations
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June 2018 in “Journal of Dental Research” Msx2 is essential for proper enamel formation by preventing abnormal cell transformation.
Lhx2 is essential for effective Sonic Hedgehog signaling in early retinal development.
128 citations
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December 2006 in “Journal of Biological Chemistry” Altering SSAT affects fat metabolism and body fat in mice.
21 citations
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October 2017 in “Cell death and disease” Sesn2 protects inner ear hair cells from damage by regulating certain cell survival pathways.
Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.
December 2025 in “Molecular Pain” Targeting the MC-5-HT-HTR2A axis may help treat chronic itching.
SH-SY5Y cell lysate is effective for diagnosing Satoyoshi syndrome.
14 citations
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September 1999 in “Mammalian genome” The scraggly mutation causes hair loss and skin defects in mice.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
December 2021 in “Molecular genetics and genomics” Cats with abnormal hair had DSG4 gene changes causing hair problems.
3 citations
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April 2022 in “Research Square (Research Square)” PBX1 reduces aging and cell death in stem cells by boosting SIRT1 and lowering PARP1.
38 citations
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September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
8 citations
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January 2017 in “Journal of Biological Chemistry” Astrotactin-2 is cleaved in a specific way that helps understand its maturation.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
75 citations
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June 2007 in “Journal of Biological Chemistry” MT-DADMe-ImmA can selectively kill head and neck cancer cells without harming normal cells.
30 citations
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October 2010 in “Biochemical and biophysical research communications” The Gsdma3 gene is essential for normal hair development in mice.
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.
Sox13 is a marker for early hair follicle development but not essential for skin and hair growth.