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May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
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January 2013 in “Clinical Endoscopy” First Korean case of Cronkhite-Canada syndrome with colon cancer and serrated adenoma.
May 2025 in “BMC Genomics” Circ 0020938 slows down hair growth in cashmere goats.
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April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
December 2019 in “The American Journal of Gastroenterology” Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.
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January 2011 in “Intestinal Research” Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
January 2025 in “Iraqi Journal of Science” PDCD4 protein levels, affected by genetics and breastfeeding, may predict breast cancer treatment response.
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September 2020 in “Animals” circRNA-1926 helps goat stem cells turn into hair follicles by affecting miR-148a/b-3p and CDK19.
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January 2022 in “Research Square (Research Square)” CRISPR/Cas9 editing in spinach affects root hair growth by altering specific genes.
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September 2019 in “Steroids” Two new mutations in the AR gene linked to severe androgen insensitivity were found.
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November 2023 in “International Journal of Molecular Sciences” SOX18 helps sheep hair cells grow by activating a specific cell growth pathway.
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October 2012 in “Seminars in reproductive medicine” Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
Ca²⁺-mediated protein citrullination controls cell growth in the CNS and may help treat brain tumors.
April 2023 in “Journal of Investigative Dermatology” Cyclosporin A, a drug, reduces TGF-β2 expression in skin cells, potentially causing excessive hair growth through a process involving the calcineurin/NFAT pathway.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
April 2023 in “Research Square (Research Square)” A specific RNA helps increase the growth of skin cells in Liaoning cashmere goats by working with a protein to boost a growth-related gene.
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November 2015 in “Annals of the New York Academy of Sciences” Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
December 2022 in “Research Square (Research Square)” Key genes linked to immune response are upregulated in hair follicles and skin tissues in chronic discoid lupus erythematosus.
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July 2020 in “International Journal of Molecular Sciences” SCDSFs from zebrafish embryos are beneficial for treating cancer, regenerating tissues, and improving conditions like psoriasis and alopecia.
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January 2020 in “Cell Transplantation” Targeting ACE2 and TMPRSS2 may help prevent or treat COVID-19 in cancer patients.
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June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
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June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
August 2023 in “Gastroenterology” A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.