2 citations
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June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
7 citations
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August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
Defective nuclear transport may cause gene expression changes in Progeria.
112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
January 2026 in “Animals” TBX3 gene affects pigmentation and marking formation in Dun Mongolian horses.
30 citations
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January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
1 citations
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June 2022 in “Experimental dermatology” The SHJH hr mice with a mutated Hr gene show signs of faster skin aging due to poor antioxidative protection.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
37 citations
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August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
4 citations
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July 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” BLMP-1 is important for regular molting and gene expression cycles in worms.
1 citations
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September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
1 citations
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October 2023 in “BMC Genomics” miRNAs in the Dlk1-Gtl2 region may improve lamb fur quality.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
April 2016 in “Journal of Investigative Dermatology” SOX4 is crucial for the development of melanoma.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
January 2002 in “Agritrop (Cirad)” The hr gene is linked to hair loss in Valle del Belice sheep.
2 citations
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January 2014 in “Journal of Cytology & Histology” Rapamycin and anti-EGFR antibody reduce LAM/TSC cell migration and blood vessel growth in the uterus.
87 citations
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September 2019 in “Nature Communications” SOX11 and SOX4 help skin cells act like embryonic cells to heal wounds in mice.
2 citations
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August 2020 in “CRC Press eBooks” Tabby mutations in mice affect hair follicle development and help study genetic mapping and certain medical conditions.
28 citations
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November 2018 in “Journal of Cellular and Molecular Medicine” CXXC5 is a protein that controls cell growth and healing processes, and changes in its activity can lead to diseases like cancer and hair loss.
1 citations
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April 2015 in “InTech eBooks” RAGE is a potential target for melanoma treatment, but its effectiveness is uncertain due to variable expression levels.
1 citations
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February 1991 in “Journal of Biological Chemistry” 17 citations
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September 2018 in “Matrix Biology” Laminin-511 is essential for proper melanocyte movement and development in mice.
30 citations
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January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
10 citations
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December 2008 in “Molecular Carcinogenesis” The PML protein helps prevent skin cancer in mice.
7 citations
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May 2022 in “Cancers” UC.145 may be a new biomarker for predicting gastric cancer.
75 citations
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October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
May 2005 in “Molecular Carcinogenesis” mrp/plf-mRNA can indicate tumor-promoting effects in skin.