September 2013 in “Helda (University of Helsinki)” Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
March 2021 in “Arrow - TU Dublin (Technological University Dublin)” The folate-cyclodextrin conjugate targets cancer cells more precisely, potentially reducing chemotherapy side effects.
May 2010 in “OPAL (Open@LaTrobe) (La Trobe University)” Vaccines and targeting TrxR variants can help prevent cancer and reduce metastasis.
2 citations
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April 2010 in “The Open Dermatology Journal” Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
26 citations
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April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
October 2018 in “Journal of Clinical Research in Pediatric Endocrinology” Children with classic congenital adrenal hyperplasia have thicker heart fat and more heart and blood vessel risk factors, especially if their condition is not well-controlled.
June 2023 in “International Journal of Research in Medical Sciences” Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
29 citations
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June 2017 in “Journal of Inherited Metabolic Disease” High-content screening is useful for finding new treatments for rare diseases and has led to FDA-approved drugs.
29 citations
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January 2021 in “G3 Genes Genomes Genetics” A 195 bp duplication in the HOXC10 gene causes crests in domestic chickens.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
3 citations
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April 2020 in “Clinical endocrinology and metabolism journal” Imaging helps detect adrenal gland issues and monitor treatment in congenital adrenal hyperplasia, and can identify tumors affecting fertility.
November 2024 in “Journal of Investigative Dermatology” ATP-sensitive potassium channels are important for hair growth.
July 2025 in “Genome biology” HT-scCAT-seq helps understand gene regulation in embryonic skin development.
249 citations
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May 2003 in “Developmental Biology” Ectodysplasin-A1 is crucial for developing hair, teeth, and glands.
April 2023 in “Journal of Investigative Dermatology” The improved EczemaNet more reliably and clearly identifies and assesses the severity of atopic dermatitis from photos.
245 citations
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January 1998 in “Genes & Development” Hoxc13 gene is essential for hair, nail, and papilla development.
94 citations
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July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
1 citations
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August 2022 in “Pigment Cell & Melanoma Research” New mouse models help study melanocytic cells for melanoma research.
January 2026 in “Pediatrics International” Live vaccines can be safely given to infants with a FOXN1 variant if their immune function improves over time.
March 2026 in “Dermatopathology” Different types of skin gland tumors have unique genetic traits, which can guide personalized treatments.
January 2023 in “Pediatrics International” Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
45 citations
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March 1997 in “Journal of Investigative Dermatology” 25 citations
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February 2021 in “Diabetes” Dock5 is important for skin healing and could help treat diabetic wounds.
15 citations
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June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
87 citations
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July 2009 in “Journal of Cell Science” Deleting the CDSN gene causes severe skin and hair problems, leading to death.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
8 citations
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August 2016 in “Journal of pathology and translational medicine” CD99 is highly present in certain skin cells and could help treat skin conditions.
3 citations
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March 2019 in “Case Reports” A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
6 citations
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September 2009 in “European journal of histochemistry” CD90 is present on specific cells in dog hair follicles.