1 citations
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April 2012 in “Cancer Research” Antizyme reduces tumor growth and normalizes skin cell development affected by MEK.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
8 citations
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January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
November 2018 in “Atlas of genetics and cytogenetics in oncology and haematology” WNT10B is linked to cancer development and affects survival and disease progression in various cancers.
30 citations
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June 1993 in “The Journal of Cell Biology” The oncoprotein causes abnormal hair growth without increasing skin cancer risk.
15 citations
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April 2007 in “Journal of child neurology” An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
11 citations
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January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
14 citations
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November 2011 in “Journal of The American Academy of Dermatology” Alopecia Areata Incognita causes widespread hair thinning, and treatment with systemic corticosteroids and psychiatric support can lead to remission.
May 2020 in “Archives of Medical Science” Men with androgenetic alopecia have lower levels of certain proteins and more cell damage.
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.
May 2018 in “White Rose eTheses Online (University of Leeds, The University of Sheffield, University of York)” Alopecia areata may be treated by using EGCG to balance immune cells and reduce inflammation.
2 citations
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January 2020 in “Einstein (São Paulo)” Topical tofacitinib shows promise as a future treatment for alopecia areata.
6 citations
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December 2004 in “Anais Brasileiros de Dermatologia” Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
January 2023 in “Annals of dermatology/Annals of Dermatology” A substance called miR-1246 may help treat severe hair loss by reducing certain immune cell activities.
12 citations
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July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
22 citations
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August 2020 in “Cells” TGM3 is important for skin and hair structure and may help diagnose cancer.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
March 2014 in “Journal of The American Academy of Dermatology” TNF-a may not be as involved in certain types of hair loss as previously thought.
65 citations
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November 2013 in “The EMBO Journal” HDAC1 is crucial for skin development and preventing tumors.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
176 citations
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February 2006 in “Cancer Research” Patched1 helps prevent tumors by controlling cell growth.
March 2026 in “Voprosy dermatologii i venerologii/Dermatologiâ ža̋ne veneralogiâ ma̋selelerì” Early diagnosis, genetic testing, and personalized care are essential for managing tuberous sclerosis.
14 citations
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May 2016 in “International Journal of Molecular Sciences” PP2Acα is essential for proper hair and skin development.
6 citations
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March 2016 in “Scandinavian journal of immunology” Janus kinase inhibitors show promise in treating alopecia areata but need more safety research.
37 citations
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June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
11 citations
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June 2012 in “Acta histochemica” Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.
July 2024 in “Indian Journal of Dermatology Venereology and Leprology” Certain gene variations in PITX2 are linked to a higher risk of male pattern baldness in Indians.