11 citations
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August 2010 in “Developmental neurobiology” Ptprq has multiple forms that change during inner ear development.
45 citations
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March 1997 in “Journal of Investigative Dermatology”
May 2025 in “The FASEB Journal” Targeting the TNFRSF1B gene may help treat hair loss.
56 citations
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September 2010 in “Veterinary pathology” Certain mouse strains develop a skin condition similar to a human hair loss disease due to genetic defects.
11 citations
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March 2014 in “Journal of The European Academy of Dermatology and Venereology” Hair loss gene linked to prostate issues.
64 citations
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March 2004 in “Journal of Clinical Investigation” Targeting ornithine decarboxylase can help prevent skin cancer.
122 citations
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July 1994 in “Journal of Investigative Dermatology”
October 2022 in “Medičnì perspektivi” Darier-White disease causes skin and nail issues, starts around age 20, worsens until 40-50, and has poor treatment options.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
7 citations
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March 2022 in “Molecules” 5-Bromo-3,4-dihydroxybenzaldehyde could potentially help hair growth by activating certain cell pathways and inhibiting others.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
July 2025 in “Journal of Investigative Dermatology”
30 citations
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October 2014 in “PLOS ONE” BAF200 is essential for proper heart and coronary artery formation.
23 citations
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June 1992 in “PubMed” RAR-gamma 1 is important for normal skin maintenance and differentiation.
18 citations
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September 2003 in “International Journal of Cancer” EBV infection increases a specific keratin variant in carcinoma cells, possibly affecting cell structure and cancer progression.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
4 citations
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January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
28 citations
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February 2010 in “Experimental Dermatology” The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
10 citations
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July 2021 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” LRIG1 is linked to better survival in Merkel cell carcinoma.
13 citations
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February 2016 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” Mice without active or present vitamin D receptors maintain normal blood sugar control and islet gene expression when calcium levels are normal.
65 citations
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March 2004 in “Journal of Clinical Investigation” Inhibiting ornithine decarboxylase may help prevent certain skin cancers.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Double stranded RNA helps skin wounds heal by coordinating specific proteins and signaling pathways.
1 citations
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March 2004 in “Journal of the American Academy of Dermatology” Certain genes are linked to the risk of developing Alopecia Areata.
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.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
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.
September 2013 in “Helda (University of Helsinki)” Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.