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Evaluation of rare NR1D2 variants in MODY-X: clinical, genetic, and in silico insights.

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Title: Evaluation of rare NR1D2 variants in MODY-X: clinical, genetic, and in silico insights.
Authors: Aydogan C; Department of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey., Kanca-Demirci D; Department of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.; Department of Molecular Biology and Genetics, Faculty of Arts and Sciences, Halic University, Istanbul, Turkey., Gul N; Istanbul Faculty of Medicine, Division of Endocrinology and Metabolism, Department of Internal Medicine, Istanbul University, Istanbul, Turkey., Poyrazoglu S; Pediatric Endocrinology Unit, Department of Pediatrics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Tokat B; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA., Mutlu U; Istanbul Faculty of Medicine, Division of Endocrinology and Metabolism, Department of Internal Medicine, Istanbul University, Istanbul, Turkey., Ozturk O; Department of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey., Yilmaz-Aydogan H; Department of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey., Satman I; Istanbul Faculty of Medicine, Division of Endocrinology and Metabolism, Department of Internal Medicine, Istanbul University, Istanbul, Turkey. satman@istanbul.edu.tr.
Source: Journal of endocrinological investigation [J Endocrinol Invest] 2026 Jun; Vol. 49 (6), pp. 1421-1431. Date of Electronic Publication: 2026 Feb 06.
Publication Type: Journal Article
Journal Info: Publisher: Springer Country of Publication: Italy NLM ID: 7806594 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1720-8386 (Electronic) Linking ISSN: 03914097 NLM ISO Abbreviation: J Endocrinol Invest Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Evaluation of rare NR1D2 variants in MODY-X: clinical, genetic, and in silico insights.
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  Data: <searchLink fieldCode="AU" term="%22Aydogan+C%22">Aydogan C</searchLink>; Department of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Kanca-Demirci+D%22">Kanca-Demirci D</searchLink>; Department of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.; Department of Molecular Biology and Genetics, Faculty of Arts and Sciences, Halic University, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Gul+N%22">Gul N</searchLink>; Istanbul Faculty of Medicine, Division of Endocrinology and Metabolism, Department of Internal Medicine, Istanbul University, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Poyrazoglu+S%22">Poyrazoglu S</searchLink>; Pediatric Endocrinology Unit, Department of Pediatrics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Tokat+B%22">Tokat B</searchLink>; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA.<br /><searchLink fieldCode="AU" term="%22Mutlu+U%22">Mutlu U</searchLink>; Istanbul Faculty of Medicine, Division of Endocrinology and Metabolism, Department of Internal Medicine, Istanbul University, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Ozturk+O%22">Ozturk O</searchLink>; Department of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Yilmaz-Aydogan+H%22">Yilmaz-Aydogan H</searchLink>; Department of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Satman+I%22">Satman I</searchLink>; Istanbul Faculty of Medicine, Division of Endocrinology and Metabolism, Department of Internal Medicine, Istanbul University, Istanbul, Turkey. satman@istanbul.edu.tr.
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  Data: <searchLink fieldCode="JN" term="%227806594%22">Journal of endocrinological investigation</searchLink> [J Endocrinol Invest] 2026 Jun; Vol. 49 (6), pp. 1421-1431. <i>Date of Electronic Publication: </i>2026 Feb 06.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer%22">Springer </searchLink><i>Country of Publication: </i>Italy <i>NLM ID: </i>7806594 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1720-8386 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203914097%22">03914097 </searchLink><i>NLM ISO Abbreviation: </i>J Endocrinol Invest <i>Subsets: </i>MEDLINE
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        Value: 10.1007/s40618-026-02821-7
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        Text: English
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              Text: 2026 Jun
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