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October 16, 2025Journal of Biomolecular Structure and Dynamics

Novel Filamin genes variants implicated in skeletal dysplasias: integrated structural modeling and in silico functional characterization

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Authors

MYMaha YousafAZAyesha ZakaSSShaheen Shahzad

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Overview

Research identifies mutations in Filamin genes affecting skeletal growth in families, suggesting new insights.

Key Points

  • Two novel mutations in Filamin genes were identified, impacting skeletal dysplasias with diverse clinical features.
  • Families from Pakistan showed distinct mutations in FLNA and FLNB proteins, indicating their crucial roles in skeletal disorders.
  • In silico structural analysis demonstrated mutations dramatically affected protein structure and functional domains.
  • These findings highlight the integration of genetic and computational approaches in understanding skeletal dysplasias.

Cite This Study

Yousaf et al. (2025) studied this question.

synapsesocial.com/papers/68f10ecee6a12fd042899772https://doi.org/10.1080/07391102.2025.2572304
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