Connective tissue disorders research

Moving in bioRxiv, Stem cell research, Biotechnology advances, Blood, Communications Biology, Frontiers in Genetics, medRxiv and New England Journal of Medicine.

Moved, week to 23 Oct 2026: 0
Papers in 60 days: 12

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Practice-Based Insights into Adult Genetic Medicine: High Diagnostic Yield, Indication-Specific Results, and Patterns of Test Utilization across 10,000 Patient Encounters
medRxiv · 15 Oct 2026 · Preprint
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https://jclub.com.au/a/10.1101/2025.10.09.25337579
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Expansins and expansin-like proteins revisited: Untangling the 'Gordian' knots.
Biotechnology advances · 1 Oct 2026 · Review
Expansins and expansin-like proteins are diverse cell wall-loosening proteins present across multiple organisms, with recent discoveries revealing catalytic activity in some ESPs.
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https://jclub.com.au/a/42202952
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APOA1 links a late fetal epithelial program to colonic maturation and injury responses
bioRxiv · 25 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.09.24.754040
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Nanoscale Structural and Functional Impacts of Disease-Associated Collagen Mutations
bioRxiv · 25 Sept 2026 · Preprint
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https://jclub.com.au/a/10.1101/2025.09.03.673992
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Dysregulated Platelet GPIb alpha - VWF Signalling in Abdominal Aortic Aneurysm formation and Progression
bioRxiv · 25 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.09.21.751373
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Non-coding regulatory variants in adolescent idiopathic scoliosis risk and pathogenesis.
Communications Biology · 16 Sept 2026 · Review
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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https://jclub.com.au/a/42749817
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FAP-1 loss impairs megakaryocyte demarcation membrane system and platelet function with myelofibrosis-like features.
Blood · 10 Sept 2026 · Journal Article
Loss of FAP-1 causes defective megakaryocyte membrane development, impaired platelet function, and myelofibrosis-like features in mice, with 50% developing severe symptoms.
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https://jclub.com.au/a/42296014
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Spectrum and carrier frequency of DMD in Yueyang, China: a population-based analysis using NGS and MLPA.
Frontiers in Genetics · 3 Sept 2026 · Journal Article
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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https://jclub.com.au/a/42751392
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Phase 3 Trial of Oral Infigratinib in Children with Achondroplasia.
New England Journal of Medicine · 3 Sept 2026 · Randomized Controlled Trial
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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https://jclub.com.au/a/42370681
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Generation of induced pluripotent stem cell (JHUi009-A) and isogenic control (JHUi009-A-1) lines from a patient with vascular Ehlers-Danlos syndrome (vEDS) harboring a pathogenic c.2456G > A in COL3A1.
Stem cell research · 1 Sept 2026 · Journal Article
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https://jclub.com.au/a/42269214
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Generation of two induced pluripotent stem cell lines from Marfan syndrome patients carrying FBN1 mutations.
Stem cell research · 1 Sept 2026 · Journal Article
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https://jclub.com.au/a/42648118
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Generation of induced pluripotent stem cell lines from three Marfan syndrome patients carrying mutations in the fibrillin-1 gene.
Stem cell research · 1 Sept 2026 · Journal Article
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https://jclub.com.au/a/42263533
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