the-causal-effects-plasma-metabolites-on-achilles-tendon-injury

The Causal Effects of Plasma Metabolites on Achilles Tendon Injury: A Mendelian Randomization Study

To investigate the causal effects of plasma metabolites on the progression and recovery of Achilles tendon injury (ATI), Mendelian randomization (MR) was ...

Ningxia medical university

Ocular coloboma is a developmental structural defect of the eye that often occurs as complex ocular anomalies. However, its genetic etiology remains largely unexplored. Here we report the identification of mutation (c.331C>T, p.R111C) in the IPO13 gene in a consanguineous family with ocular coloboma, microphthalmia, and cataract by a combination of whole-exome sequencing and homozygosity mapping. IPO13 encodes an importin-B family protein and has been proven to be associated with the pathogenesis of coloboma and microphthalmia. We found that Ipo13 was expressed in the cornea, sclera, lens, and retina in mice. Additionally, the mRNA expression level of Ipo13 decreased significantly in the patient compared with its expression in a healthy individual. Morpholino-oligonucleotide-induced knockdown of ipo13 in zebrafish caused dose-dependent microphthalmia and coloboma, which is highly similar to the ocular phenotypes in the patient. Moreover, both visual motor response and optokinetic response were impaired severely. Notably, these ocular phenotypes in ipo13-deficient zebrafish could be rescued remarkably by full-length ipo13 mRNA, suggesting that the phenotypes observed in zebrafish were due to insufficient ipo13 function. Altogether, our findings demonstrate, for the first time, a new role of IPO13 in eye morphogenesis and that loss of function of IPO13 could lead to ocular coloboma, microphthalmia, and cataract in humans and zebrafish.

Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract.

To compare the effect of three different surgical methods on rabbit Achilles tendon rupture.

Comparison of the Effects of Open Surgery and Minimally Invasive Surgery on the Achilles Tendon Rupture Healing Based on Angiogenesis.

Poor adherence among patients with chronic diseases including inflammatory rheumatic diseases (IRDs) is a complex and serious global health care problem. This study aimed to develop an intelligent nomogram using retrospectively collected patient clinical data for predicting nonadherence to biologic treatment in rheumatoid arthritis (RA) patients.

Development of a nomogram to predict medication nonadherence risk in patients with rheumatoid arthritis.

Low-molecular-weight heparin (LMWH) and fondaparinux sodium (FPX) are routinely used to prevent deep vein thrombosis (DVT) after total knee arthroplasty (TKA). In this study, we compared the effects of these agents in preventing post-TKA DVT.

Comparison of the efficacy of low-molecular-weight heparin and fondaparinux sodium after total knee arthroplasty: a retrospective cohort study.

SLCO2A1 is a member of the organic anion transporting polypeptide (OATP) family, which preferentially transports prostaglandins (PGs) into cells and plays a vital role in regulating PGs inactivation and distribution. Dysregulation or genetic mutation of SLCO2A1 is associated with primary hypertrophic osteoarthropathy (PHO) and chronic enteropathy associated with the SLCO2A1 gene (CEAS). Although the biophysical and biochemical properties of SLCO2A1 have been characterized, the precise mechanism by which SLCO2A1 recognizes and transports PGs remains unclear. Here, we present the cryo-electron microscopy structures of human SLCO2A1 in apo and PGE-bound forms, revealing the detailed structural features and structural basis for PGs transport. Fatty acid-like PGE binds in the central cavity, engaging in specific interactions with W565 and two serine residues, which are not conserved in other OATPs. Combined with functional assays and structural comparisons, this study offers mechanistic insights into PGE recognition, substrate selectivity, conformational changes, and pathology of SLCO2A1.

Article	Year
Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract. Experimental & molecular medicine\| PubMed ID: 29700284	2018
Comparison of the Effects of Open Surgery and Minimally Invasive Surgery on the Achilles Tendon Rupture Healing Based on Angiogenesis. Computational intelligence and neuroscience\| PubMed ID: 36093506	2022
Development of a nomogram to predict medication nonadherence risk in patients with rheumatoid arthritis. American journal of translational research\| PubMed ID: 36628221	2022
Comparison of the efficacy of low-molecular-weight heparin and fondaparinux sodium after total knee arthroplasty: a retrospective cohort study. BMC musculoskeletal disorders\| PubMed ID: 37403062	2023
Structure and transport mechanism of the human prostaglandin transporter SLCO2A1. Nature communications\| PubMed ID: 40885756	2025

Bowen Zhang

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