{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T22:48:47Z","timestamp":1779317327552,"version":"3.51.4"},"reference-count":32,"publisher":"Wiley","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Natural Science Fund","award":["81430022"],"award-info":[{"award-number":["81430022"]}]},{"name":"National Natural Science Fund","award":["91332107"],"award-info":[{"award-number":["91332107"]}]},{"name":"National Natural Science Fund","award":["81371407"],"award-info":[{"award-number":["81371407"]}]},{"name":"National Natural Science Fund","award":["81430022"],"award-info":[{"award-number":["81430022"]}]},{"name":"National Natural Science Fund","award":["91332107"],"award-info":[{"award-number":["91332107"]}]},{"name":"National Natural Science Fund","award":["81371407"],"award-info":[{"award-number":["81371407"]}]},{"name":"National Natural Science Fund","award":["81430022"],"award-info":[{"award-number":["81430022"]}]},{"name":"National Natural Science Fund","award":["91332107"],"award-info":[{"award-number":["91332107"]}]},{"name":"National Natural Science Fund","award":["81371407"],"award-info":[{"award-number":["81371407"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Parkinson's Disease"],"published-print":{"date-parts":[[2017]]},"abstract":"<jats:p><jats:italic>Background<\/jats:italic>.<jats:italic>HTRA2<\/jats:italic>has already been nominated as PARK13 which may cause Parkinson\u2019s disease, though there are still discrepancies among these results. Recently, Gulsuner et al.\u2019s study found that<jats:italic>HTRA2<\/jats:italic>p.G399S is responsible for hereditary essential tremor and homozygotes of this allele develop Parkinson\u2019s disease by examining a six-generation family segregating essential tremor and essential tremor coexisting with Parkinson\u2019s disease. We performed this study to validate the condition of<jats:italic>HTRA2<\/jats:italic>gene in Chinese familial essential tremor and familial Parkinson\u2019s disease patients, especially essential tremor.<jats:italic>Methods<\/jats:italic>. We directly sequenced all eight exons, exon-intron boundaries, and part of the introns in 101 familial essential tremor patients, 105 familial Parkinson\u2019s disease patients, and 100 healthy controls.<jats:italic>Results<\/jats:italic>. No exonic variant was identified, while one exon-intron boundary variant (rs2241028) and one intron variant (rs2241027) were detected, both with no clinical significance and uncertain function. There was no difference in allele, genotype, and haplotype between groups.<jats:italic>Conclusions<\/jats:italic>.<jats:italic>HTRA2<\/jats:italic>exonic variant might be rare among Chinese Parkinson\u2019s disease and essential tremor patients with family history, and<jats:italic>HTRA2<\/jats:italic>may not be the cause of familial Parkinson\u2019s disease and essential tremor in China.<\/jats:p>","DOI":"10.1155\/2017\/3217474","type":"journal-article","created":{"date-parts":[[2017,1,24]],"date-time":"2017-01-24T16:03:02Z","timestamp":1485273782000},"page":"1-6","source":"Crossref","is-referenced-by-count":8,"title":["Mutation Analysis of<i>HTRA2<\/i>Gene in Chinese Familial Essential Tremor and Familial Parkinson\u2019s Disease"],"prefix":"10.1155","volume":"2017","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4390-7617","authenticated-orcid":true,"given":"Ya-Chao","family":"He","sequence":"first","affiliation":[{"name":"Department of Neurology and Collaborative Innovation 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