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Chenxin Ying

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Articles

Brain calcification-associated JAM2 pathogenic mutations impair JAM2–JAM3 tight junction structure and the blood–brain barrier integrity

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By Dehao Yang, Chenxin Ying, Lebo Wang
| Wiley Online Library Verified
1 INTRODUCTION Primary brain calcification (PBC) is a hereditary neurodegenerative disorder characterized by bilateral brain calcification, a prominent imaging feature [1]. Patients with PBC exhibit high clinical heterogeneity, including motor disorders, cognitive dysfunction, and psychiatric disorders, and there are currently no effective therapeutic drugs available for PBC [2].
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Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum

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By Nan Jin, Jinghong Ma, Xiaosheng Zheng, Chenxin Ying
| Wiley Online Library Verified
1 Introduction Dopa-responsive dystonia (DRD) encompasses a spectrum of rare, genetically and clinically diverse monogenic dystonias caused by variants in GCH1, TH, SPR, PTS, and QDPR genes. According to the DRD MDSGene review, clinical characteristics such as an early age of onset, robust response to levodopa, the presence of dystonia, and diurnal symptom fluctuations are indicative of DRD [1].
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