{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:36:08Z","timestamp":1786977368588,"version":"build-2736575974"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,11,10]],"date-time":"2020-11-10T00:00:00Z","timestamp":1604966400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81871131"],"award-info":[{"award-number":["81871131"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cell Biology International"],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Kallmann syndrome (KS) is a rare human genetic disorder characterized by hypogonadotropic hypogonadism with the reduction or absence of olfactory sense. Mutations in multiple genes, including chemokine prokineticin\u20102 (PROK2), are considered to contribute to the abnormal migration of gonadotropin\u2010releasing hormone neurons in the embryonic stage. However, the mechanisms of the different inheritance modes of KS have not been comprehensively determined. In this article, we present the case of one KS patient with the same mutation in PROK2 (c.223\u20104C&gt;A) as his mother. RNA sequencing analysis of his leukocytes showed a new transcript of PROK2, which contained a partial intron (192\u2009bp) compared to those of his parents. Furthermore, we observed that hsa\u2010miR\u20103195 was expressed at low levels in his and his father's sera compared to his mother's. Unexpectedly, hsa\u2010miR\u20103195 was also identified to specifically target the 192\u2009bp intron of the aberrant PROK2 transcript of this patient. We determined that high expression of hsa\u2010miR\u20103195 could efficiently target aberrant PROK2 and stabilize the normal function of PROK2 in vitro, which provided a probable explanation for the different phenotypes of the patient and his mother with the same genotype.<\/jats:p>","DOI":"10.1002\/cbin.11496","type":"journal-article","created":{"date-parts":[[2020,11,3]],"date-time":"2020-11-03T07:57:34Z","timestamp":1604390254000},"page":"404-410","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["The novel function of miR\u20103195 for mutant PROK2 (c.223\u20104C&gt;A) degradation"],"prefix":"10.1002","volume":"45","author":[{"given":"Shasha","family":"Zhou","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Shanghai Children's Hospital Shanghai Jiaotong University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1639-7386","authenticated-orcid":false,"given":"Pin","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Shanghai Children's Hospital Shanghai Jiaotong University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,11,10]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/me.2012-1102"},{"key":"e_1_2_10_3_1","article-title":"Kallmann syndrome","volume":"139","author":"Aln\u00e6s M.","year":"2019","journal-title":"Tidsskr Nor Laegeforen"},{"key":"e_1_2_10_4_1","unstructured":"Andrews S.FastQC: A quality control tool for high throughput sequence 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