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October 2016 in “Cell death and differentiation” ΔNp63α stops TAp73β from working in skin cancer by blocking its access to specific genes, not by directly interacting with it.
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November 2009 in “British journal of dermatology/British journal of dermatology, Supplement” Sub3 is essential for fungus adherence but not for skin invasion.
65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
49 citations
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June 2019 in “eLife” Ancient DNA blocks are still present in human genomes, possibly due to advantages they provide.
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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.
2 citations
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December 2013 in “Journal of dermatology” A specific gene mutation causes a rare hair loss condition in a Chinese patient.
11 citations
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October 2007 in “Journal of Investigative Dermatology” Mutations in the Sgk3 gene cause fuzzy hair in mice.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
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September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
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January 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” P-cadherin is crucial for hair follicle pigmentation but not skin pigmentation.
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October 2001 in “Mycoses” A young cat had a rare fungal infection caused by Microsporum gypseum.
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November 2024 in “Human Genetics and Genomics Advances” Nociplastic pain is a complex, heritable trait with genetic links to chronic and neuropathic pain.
11 citations
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January 2018 in “Jaypee's international journal of clinical pediatric dentistry” Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
September 2025 in “Journal of Investigative Dermatology” SLC3A2 is crucial for hair follicle stem cell function and hair growth.
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September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
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February 2015 in “Cell & tissue research/Cell and tissue research” P-cadherin is important for hair growth and health, and its problems can cause hair and skin disorders.
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June 1999 in “The Pediatric Infectious Disease Journal” A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.
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November 1997 in “Australasian Journal of Dermatology” A combination of oral cyclosporin and PUVA treatment worked well for a severe skin condition called generalized pustular psoriasis.
NCBP3, SDHA, and PTPRA are the best genes for normalizing goat skin experiments.
Par3–mInsc and Gαi3 work together to ensure proper cell division orientation in skin development.
January 2024 in “Biomarker Insights” Certain genetic variants may increase the risk of developing PCOS.
49 citations
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November 2019 in “Egyptian Journal of Medical Human Genetics” Certain gene variants may contribute to high androgen levels in women with polycystic ovary syndrome.
May 2005 in “Molecular Carcinogenesis” mrp/plf-mRNA can indicate tumor-promoting effects in skin.
July 2024 in “Experimental Dermatology” AP collagen peptides help hair grow and improve hair health.
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May 2012 in “Arthritis & Rheumatism” The new SLICC criteria for diagnosing lupus are more sensitive and accurate than the old criteria.
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December 2020 in “Endocrinology, diabetes & metabolism case reports” A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
Pygo2 is important for early growth and progression of intestinal tumors, and could be a target for treating cancers with certain mutations.
5 citations
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August 2012 in “Experimental Dermatology” Artemis phosphorylation at Ser516 may help regulate skin and hair structures.
January 2026 in “Applied Sciences” Cyclic ADP-ribose helps regulate calcium and signals that promote hair growth in hair follicle cells.
4 citations
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December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.