Expansins and expansin-like proteins influence cell wall properties across diverse organisms, with recent discoveries revealing catalytic activity in some members of the superfamily.
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Connective tissue disorders research
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Non-coding regulatory variants contribute to adolescent idiopathic scoliosis risk, with dozens of loci and hundreds of variants identified in recent studies.
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Loss of FAP-1 causes defective megakaryocyte membrane development, impaired platelet function, and myelofibrosis-like features in mice, with 50% developing severe symptoms.
In children with achondroplasia, 52 weeks of oral infigratinib increased annualized height velocity by 1.74 cm compared to placebo, showing significant growth benefits.
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Duchenne muscular dystrophy carrier frequency is 0.11% in Yueyang, China, with a high prevalence of exon 45-55 deletions and significant regional variation.
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