PTPN4 germline variants result in aberrant neurodevelopment and growth

Autor: Joanna J. Chmielewska, Deepika Burkardt, Jorge Luis Granadillo, Rachel Slaugh, Shamile Morgan, Joshua Rotenberg, Boris Keren, Cyril Mignot, Luis Escobar, Peter Turnpenny, Melissa Zuteck, Laurie H. Seaver, Rafal Ploski, Magdalena Dziembowska, Anthony Wynshaw-Boris, Abidemi Adegbola

Publikováno v: HGG Advances, Vol 2, Iss 3, Pp 100033- (2021)

Summary: Protein-tyrosine phosphatases (PTPs) are pleomorphic regulators of eukaryotic cellular responses to extracellular signals that function by modulating the phosphotyrosine of specific proteins. A handful of PTPs have been implicated in germlin

Externí odkaz: https://doaj.org/article/5c1338c329174b3086e0712d58725396

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

Autor: Jonathan A. Bernstein, Leah J. Rowe, Kimberly Foss, Samin A. Sajan, Kun Xia, Juliane Hoyer, Anita E. Beck, Shayna Svihovec, Vincent Gatinois, Lance H. Rodan, Roksana Sasanfar, Christiane Zweier, Alban Ziegler, Sonal Mahida, Kristin G. Monaghan, Charlotte W. Ockeloen, André Reis, Milen Velinov, Janson White, Evan E. Eichler, Nasim Vasli, Jennifer Friedman, Constance Smith-Hicks, Gilles Morin, Rachel Westman, Sandra Yang, Joshua Scheck, Christian Thiel, John B. Vincent, Deborah A. Nickerson, Michelle E. Ernst, Jacqueline Harris, Natasha Zeid, Bernt Popp, Francesca Mattioli, Zehra Agha, Ellen van Binsbergen, Julian A. Martinez-Agosto, Karen W. Gripp, Gwenaël Le Guyader, Catherine Vincent-Delorme, Lori-Anne Schillaci, Jennefer N. Kohler, Kimberly A. Aldinger, Laurence J. Walsh, Jessica X. Chong, David Geneviève, Rami Abou Jamra, Amy Yang, Cigdem I. Akman, Sha Tang, Ricardo Harripaul, Rick Person, Marleen Simon, Hui Guo, Muhammad Ayub, Laura S. Farach, Patricia Blanchet, Austin Larson, Marie Vincent, Luis Rohena, Michael J. Bamshad, Raheel Qamar, Gregory M. Enns, Joshua Rotenberg, Katelyn Payne, William J. Sunderland, Anne C.-H. Tsai, Annika M. Dries, Michèle Mathieu-Dramard, Dominique Bonneau, Ghayda M. Mirzaa, Bénédicte Gérard, Elise Schaefer, Amélie Piton, Patricia G Wheeler

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine
Genetics in Medicine, 2020, 22 (3), pp.538-546. ⟨10.1038/s41436-019-0693-9⟩
Genetics in Medicine, Nature Publishing Group, 2020, 22 (3), pp.538-546. ⟨10.1038/s41436-019-0693-9⟩
Genetics in Medicine, 22, 538-546
Genetics in Medicine, 22, 3, pp. 538-546

Contains fulltext : 218267.pdf (Publisher’s version ) (Closed access) PURPOSE: Intellectual disability (ID) and autism spectrum disorder (ASD) are genetically heterogeneous neurodevelopmental disorders. We sought to delineate the clinical, molecula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9f3e30c4e22e927d1381e056b7dcbef
http://europepmc.org/articles/PMC7060121

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.

Autor: Liu, Zhigang, Xin, Baozhong, Smith, Iris N, Sency, Valerie, Szekely, Julia, Alkelai, Anna, Shuldiner, Alan, Efthymiou, Stephanie, Rajabi, Farrah, Coury, Stephanie, Brownstein, Catherine A, Rudnik-Schöneborn, Sabine, Bruel, Ange-Line, Thevenon, Julien, Zeidler, Shimriet, Jayakar, Parul, Schmidt, Axel, Cremer, Kirsten, Engels, Hartmut, Peters, Sophia O

Publikováno v: Human Molecular Genetics; 10/15/2023, Vol. 32 Issue 20, p2981-2995, 15p

New Pediatric Neurologist to Serve Houston and Suburbs

Autor: PR Newswire

Publikováno v: PR Newswire US. 07/08/2011.

Findings from Cleveland Clinic Broaden Understanding of Molecular Genetics [Hemizygous Variants In Protein Phosphatase 1 Regulatory Subunit 3f (Ppp1r3f) Are Associated With a Neurodevelopmental Disorder Characterized By Developmental Delay,...].

Publikováno v: Genomics & Genetics Weekly; 9/22/2023, p384-384, 1p