7 citations
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January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
60 citations
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March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
May 2025 in “Acta Dermato Venereologica” The Paxbp1 gene is crucial for healthy hair follicles.
16 citations
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September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
August 2016 in “Journal of Investigative Dermatology” EZH2 is essential for hair growth and skin cell development.
January 2008 in “Memorial University Research Repository (Memorial University)” Pygopus 2 helps ovarian cancer cells grow by aiding ribosomal RNA production, independent of Wnt signaling.
May 2017 in “The journal of immunology/The Journal of immunology” Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.
October 2024 in “Developmental Dynamics” The document highlights recent advances in developmental biology, focusing on three studies. The first study establishes a zebrafish model for Diamond-Blackfan anemia like (DBAL), showing that epoa-deficient zebrafish can be used to screen treatments for anemia, with recombinant human EPO improving erythrocyte numbers. The second study investigates the role of Alx4 in craniofacial and hair development, using Alx4fx/fx conditional mice to explore the mechanisms of ALX4-related disorders and alopecia, finding that Alx4 loss leads to developmental defects and hair loss. The third study examines the mTORC1 signaling pathway's role in retinal development, demonstrating that its disruption in retinal progenitor cells causes lamination deficits and visual behavior loss, highlighting mTORC1's importance in CNS histogenesis.
9 citations
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July 2018 in “Current Pharmaceutical Design” HO-1 helps skin health and healing but can worsen melanoma; it's a potential treatment target for skin diseases.
April 2026 in “Apollo (University of Cambridge)” SOX9 is crucial for cell development and repair but can cause fibrosis and cancer if misregulated.
37 citations
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January 1993 in “Journal of Investigative Dermatology” 201 citations
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May 2001 in “Proceedings of the National Academy of Sciences” Overexpression of COX-2 in mice skin causes abnormal skin and hair development.
72 citations
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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.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” DNA methylation controls hair follicle gene expression in cashmere goats.
20 citations
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July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Elf5 is important for skin stem cell growth and could help treat skin and hair problems.
11 citations
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June 2010 in “Medical Molecular Morphology” 117 citations
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August 1999 in “Nature Genetics” 
April 2016 in “Journal of Investigative Dermatology” Lymphoid-specific helicase (Lsh) is crucial for skin growth, change, and healing after injury.
January 2026 in “Animals” TBX3 gene affects pigmentation and marking formation in Dun Mongolian horses.
6 citations
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December 2022 in “International Journal of Molecular Sciences” EZH2 is crucial for uterine gland development and female fertility.
30 citations
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October 2014 in “PLOS ONE” BAF200 is essential for proper heart and coronary artery formation.
50 citations
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February 2013 in “BMC evolutionary biology” Cetaceans lost hair due to changes in the Hr and FGF5 genes.
8 citations
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June 2022 in “Scientific Reports” LGR5 is a common marker of hair follicle stem cells in different animals and is important for hair growth and regeneration.
68 citations
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November 2011 in “The American journal of pathology” Abnormal Hedgehog signaling in blood cancers may help tumors grow and resist chemotherapy, suggesting potential for targeted treatments.
22 citations
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March 2019 in “The Journal of Cell Biology” The Wave complex controls skin growth by suppressing certain signals.
76 citations
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June 2018 in “EMBO Reports” YAP and TAZ proteins are necessary for the development of two types of skin cancer.
137 citations
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September 2005 in “Proceedings of the National Academy of Sciences of the United States of America” The HR protein helps hair grow by blocking a hair growth inhibitor, aiding in hair follicle regeneration.
January 2019 in “Publisher” Human basal cell carcinomas and squamous cell carcinomas have unique gene expression patterns not fully mirrored in mouse models.