7 citations
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May 2019 in “European Journal of Human Genetics” This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.
18 citations
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July 2016 in “Genetica” This study found that in Liaoning cashmere goats, the BMP4 gene shows increased transcription from the anagen stage to telogen, and higher gene methylation correlates with reduced expression in skin tissue.
7 citations
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August 2020 in “Genes” This study mapped gene expression in different skin structures of dogs, finding similarities to humans that support using dogs as models for human skin diseases.
June 2023 in “Livestock studies” This review highlights the significance of animal fibers, examining the molecular mechanisms influencing hair follicle development and their impact on fiber quality and quantity, with a focus on studies involving Angora and cashmere goats.
1 citations
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November 2022 in “Diagnostics” This case report identifies a 32-year-old woman with undiagnosed PHPT-1a who exhibited complete pseudo-anodontia and persistent patchy alopecia areata, suggesting these may be new nonclassical features of a GNAS pathogenic variant.