28 citations
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May 2000 in “Proceedings of the National Academy of Sciences” The Walleye dermal sarcoma virus cyclin causes excessive skin cell growth in mice.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
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.
July 2021 in “Scholars Journal of Medical Case Reports” Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
9 citations
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November 2021 in “Current Opinion in Genetics & Development” Wounds can cause new hair growth in adult mice, influenced by Wnt signaling.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
4 citations
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September 2019 in “Biomedical Papers/Biomedical Papers of the Faculty of Medicine of Palacký University, Olomouc Czech Republic” CD2 might be a new treatment target for patchy alopecia areata.
2 citations
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September 2022 in “World Rabbit Science” The WIF1 gene is crucial for hair growth in Angora rabbits.
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
1 citations
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September 2011 in “Journal of the American Geriatrics Society” A potential genetic link between Werner syndrome and kidney disease was suggested.
April 2024 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A new change in the WNT10A gene caused a condition leading to short hair growth in a Chinese family.
112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
9 citations
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May 2019 in “Medicine” The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.
July 2024 in “Journal of Investigative Dermatology” A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
75 citations
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April 2000 in “Developmental Dynamics” Whn is essential for hair growth, and its malfunction causes hair loss.
7 citations
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January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
1 citations
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November 2022 in “Journal of Investigative Dermatology” ALRN-6924 may prevent hair loss caused by chemotherapy.
July 2024 in “Journal of Rare Diseases” Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
74 citations
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September 2006 in “Cell Cycle” The HR protein's role as a repressor is essential for controlling hair growth.
717 citations
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June 2010 in “Nature” Alopecia areata involves both innate and adaptive immunity, with specific genes linked to the disease.
1 citations
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April 2025 in “Pediatria i Medycyna Rodzinna” Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
September 2024 in “PubMed” Certain RNAs may help diagnose alopecia areata by affecting keratin genes.
12 citations
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September 2021 in “PLoS ONE” WNT10A and EBF1 interaction affects hair growth in male-pattern baldness.
Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.
September 2024 in “Clinical Case Reports” Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
2 citations
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February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
July 2025 in “Journal of Investigative Dermatology”
January 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” The gene Ascl4 is not necessary for the development of hair, teeth, or mammary glands.