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Functional and structural characterization of POR splicing variants reveals pathogenic mechanisms in PORD.

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Title: Functional and structural characterization of POR splicing variants reveals pathogenic mechanisms in PORD.
Authors: Zhang XJ; Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China., Zhou FY; Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, China.; Graduate College of Tianjin Medical University, Tianjin, China., Xu XW; Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China., Wang C; Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China., Qian Y; Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China.; Department of Endocrinology, Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China., Gong CY; Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China., Sheng WC; Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China., Shu JB; Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China., Cai CQ; Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China., Zhang MY; Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China.; Department of Endocrinology, Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China.
Source: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2026 Apr 27; Vol. 17, pp. 1807069. Date of Electronic Publication: 2026 Apr 27 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Functional and structural characterization of POR splicing variants reveals pathogenic mechanisms in PORD.
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  Data: <searchLink fieldCode="AU" term="%22Zhang+XJ%22">Zhang XJ</searchLink>; Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China.<br /><searchLink fieldCode="AU" term="%22Zhou+FY%22">Zhou FY</searchLink>; Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, China.; Graduate College of Tianjin Medical University, Tianjin, China.<br /><searchLink fieldCode="AU" term="%22Xu+XW%22">Xu XW</searchLink>; Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China.<br /><searchLink fieldCode="AU" term="%22Wang+C%22">Wang C</searchLink>; Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China.<br /><searchLink fieldCode="AU" term="%22Qian+Y%22">Qian Y</searchLink>; Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China.; Department of Endocrinology, Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China.<br /><searchLink fieldCode="AU" term="%22Gong+CY%22">Gong CY</searchLink>; Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China.<br /><searchLink fieldCode="AU" term="%22Sheng+WC%22">Sheng WC</searchLink>; Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China.<br /><searchLink fieldCode="AU" term="%22Shu+JB%22">Shu JB</searchLink>; Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China.<br /><searchLink fieldCode="AU" term="%22Cai+CQ%22">Cai CQ</searchLink>; Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China.<br /><searchLink fieldCode="AU" term="%22Zhang+MY%22">Zhang MY</searchLink>; Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China.; Department of Endocrinology, Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China.
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  Data: <searchLink fieldCode="JN" term="%22101555782%22">Frontiers in endocrinology</searchLink> [Front Endocrinol (Lausanne)] 2026 Apr 27; Vol. 17, pp. 1807069. <i>Date of Electronic Publication: </i>2026 Apr 27 (<i>Print Publication: </i>2026).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation]%22">Frontiers Research Foundation] </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101555782 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-2392 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216642392%22">16642392 </searchLink><i>NLM ISO Abbreviation: </i>Front Endocrinol (Lausanne) <i>Subsets: </i>MEDLINE
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        Value: 10.3389/fendo.2026.1807069
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        Text: English
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            – D: 27
              M: 04
              Text: 2026 Apr 27
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