January 2026 in “MDPI (MDPI AG)” The hairy ear mutation in mice is linked to changes in gene expression affecting hair growth.
January 2026 in “Current Issues in Molecular Biology” miR-5110 affects alpaca pigmentation by altering specific gene expressions.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
1 citations
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August 2023 in “Journal of cutaneous pathology” The analysis of a large pilomatricoma revealed five distinct areas with different gene activity related to hair growth and tumor development.
September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
41 citations
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November 2011 in “The Journal of Dermatology” Some hair loss disorders are caused by genetic mutations affecting hair growth.
1 citations
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September 2023 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A gene mutations cause short anagen hair syndrome.
The AMHR2-482A>G gene change is linked to higher PCOS risk.
80 citations
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June 2000 in “Modern Pathology” Long-standing benign tumors can become cancerous, especially in people with weakened immune systems.
58 citations
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June 2018 in “Scientific reports” Researchers found 15 new genetic links to skin traits in Japanese women.
38 citations
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April 2017 in “PLOS Genetics” GRHL3 is important for controlling gene activity in skin cells during different stages of their development.
19 citations
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February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
99 citations
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August 2009 in “Nature Genetics” Removing both Atr and Trp53 genes in adult mice causes severe tissue damage and death due to DNA damage.
18 citations
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January 2013 in “PLoS ONE” HLA-DRB5 and other genes may be linked to alopecia universalis.
80 citations
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June 1997 in “The American Journal of Human Genetics”
7 citations
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May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
3 citations
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May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
The number of CAG repeats in the androgen receptor gene doesn't significantly affect female pattern hair loss in the Han Chinese population.
12 citations
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January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
5 citations
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August 2019 in “iScience” Deleting the Trf1 protein in mice is safe and may help prevent cancer without major side effects.
29 citations
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October 2019 in “Journal of dermatological science” Studying premature aging syndromes helps understand human aging and suggests potential treatments.
48 citations
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October 2004 in “Molecular and Cellular Biology” Mice with a specific BRCA1 mutation have a higher risk of tumors, especially in the uterus and ovaries.
182 citations
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August 2016 in “Development” ATP-dependent chromatin-remodeling complexes are crucial for gene regulation, cell differentiation, and organ development in mammals.
January 2008 in “Memorial University Research Repository (Memorial University)” Pygopus 2 helps ovarian cancer cells grow by aiding ribosomal RNA production, independent of Wnt signaling.
46 citations
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December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
April 2023 in “Journal of Investigative Dermatology” ALRN-6924 can protect hair follicles from chemotherapy damage by temporarily stopping cell division.
7 citations
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October 1985 in “Genetics Research” Beige and leaden pigment genes act within melanocytes, affecting pigment patterns.
January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
1 citations
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October 2023 in “Heliyon” An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
165 citations
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September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.