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Updated: Sep 10, 2025

Quantification of Orofacial Phenotypes in Xenopus
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Quantification of Orofacial Phenotypes in Xenopus

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AIベースの顔面フェノタイピングは,PACS1-,PACS2-,およびWDR37関連シンドロームの共有分子軸をサポートします

Julia Del Rincón1, Marta Gil-Salvador1, Cristina Lucia-Campos1

  • 1Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV2 and IIS-Aragon-GIIS062, 50009 Zaragoza, Spain.

International journal of molecular sciences
|August 28, 2025
PubMed
まとめ

人工知能による顔面分析により,シュアーズ・ホイイメイカー症候群 (SHMS) と関連する疾患の共通した顔面特徴が明らかになり,共通の分子メカニズムが示唆されました. このアプローチは 極めて稀な遺伝的疾患の理解に役立ちます

キーワード:
AIベースの顔分析Face2Gene (フェイス2遺伝子)パックス1パックス2SHMSシュアーズ・ホイイマッカーズ症候群WDR37 について変形性ゲシュタルト珍しい遺伝疾患

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

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Pleiotropy01:33

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In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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