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SHP2 genetic variants in NSML-associated RASopathies disrupt the PZR-IRX transcription factor signaling axis.

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Title: SHP2 genetic variants in NSML-associated RASopathies disrupt the PZR-IRX transcription factor signaling axis.
Authors: Perla S; Department of Pharmacology, Yale University School of Medicine, New Haven, CT 06520., Stiegler AL; Department of Pharmacology, Yale University School of Medicine, New Haven, CT 06520., Yi JS; Department of Pharmacology, Yale University School of Medicine, New Haven, CT 06520., Enyenihi L; Department of Pharmacology, Yale University School of Medicine, New Haven, CT 06520.; Division of Genetics and Genomics and Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215., Zhang L; Department of Pharmacology, Yale University School of Medicine, New Haven, CT 06520., Riaz M; Yale Cardiovascular Research Center, Section of Cardiovascular Medicine, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06511., An E; Department of Pharmacology, Yale University School of Medicine, New Haven, CT 06520., Qyang Y; Yale Cardiovascular Research Center, Section of Cardiovascular Medicine, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06511., Boggon TJ; Department of Pharmacology, Yale University School of Medicine, New Haven, CT 06520.; Department of Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, CT 06520., Bennett AM; Department of Pharmacology, Yale University School of Medicine, New Haven, CT 06520.; Yale Center for Molecular and Systems Metabolism, Yale University School of Medicine, New Haven, CT 06520.
Source: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2025 Sep 02; Vol. 122 (35), pp. e2503631122. Date of Electronic Publication: 2025 Aug 25.
Publication Type: Journal Article
Journal Info: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE
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  Data: SHP2 genetic variants in NSML-associated RASopathies disrupt the PZR-IRX transcription factor signaling axis.
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  Data: <searchLink fieldCode="AU" term="%22Perla+S%22">Perla S</searchLink>; Department of Pharmacology, Yale University School of Medicine, New Haven, CT 06520.<br /><searchLink fieldCode="AU" term="%22Stiegler+AL%22">Stiegler AL</searchLink>; Department of Pharmacology, Yale University School of Medicine, New Haven, CT 06520.<br /><searchLink fieldCode="AU" term="%22Yi+JS%22">Yi JS</searchLink>; Department of Pharmacology, Yale University School of Medicine, New Haven, CT 06520.<br /><searchLink fieldCode="AU" term="%22Enyenihi+L%22">Enyenihi L</searchLink>; Department of Pharmacology, Yale University School of Medicine, New Haven, CT 06520.; Division of Genetics and Genomics and Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215.<br /><searchLink fieldCode="AU" term="%22Zhang+L%22">Zhang L</searchLink>; Department of Pharmacology, Yale University School of Medicine, New Haven, CT 06520.<br /><searchLink fieldCode="AU" term="%22Riaz+M%22">Riaz M</searchLink>; Yale Cardiovascular Research Center, Section of Cardiovascular Medicine, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06511.<br /><searchLink fieldCode="AU" term="%22An+E%22">An E</searchLink>; Department of Pharmacology, Yale University School of Medicine, New Haven, CT 06520.<br /><searchLink fieldCode="AU" term="%22Qyang+Y%22">Qyang Y</searchLink>; Yale Cardiovascular Research Center, Section of Cardiovascular Medicine, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06511.<br /><searchLink fieldCode="AU" term="%22Boggon+TJ%22">Boggon TJ</searchLink>; Department of Pharmacology, Yale University School of Medicine, New Haven, CT 06520.; Department of Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, CT 06520.<br /><searchLink fieldCode="AU" term="%22Bennett+AM%22">Bennett AM</searchLink>; Department of Pharmacology, Yale University School of Medicine, New Haven, CT 06520.; Yale Center for Molecular and Systems Metabolism, Yale University School of Medicine, New Haven, CT 06520.
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  Data: <searchLink fieldCode="JN" term="%227505876%22">Proceedings of the National Academy of Sciences of the United States of America</searchLink> [Proc Natl Acad Sci U S A] 2025 Sep 02; Vol. 122 (35), pp. e2503631122. <i>Date of Electronic Publication: </i>2025 Aug 25.
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              Text: 2025 Sep 02
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