Literature DB >> 28725024

A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features.

Joanne Trinh1, Irina Hüning2, Nadja Budler2, Volker Hingst3, Katja Lohmann1, Gabriele Gillessen-Kaesbach2.   

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Year:  2017        PMID： 28725024     DOI： 10.1038/jhg.2017.73

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


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  11 in total

1.  Are CSNK2A1 gene mutations associated with retinal dystrophy? Report of a patient carrier of a novel de novo splice site mutation.

Authors:  Davide Colavito; Elda Del Giudice; Chiara Ceccato; Maurizio Dalle Carbonare; Alberta Leon; Agnese Suppiej
Journal:  J Hum Genet       Date:  2018-03-22       Impact factor: 3.172

2.  Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome.

Authors:  Hiroaki Murakami; Tomoko Uehara; Yumi Enomoto; Naoto Nishimura; Tatsuro Kumaki; Yukiko Kuroda; Mizuki Asano; Noriko Aida; Kenjiro Kosaki; Kenji Kurosawa
Journal:  Mol Syndromol       Date:  2021-09-22

Review 3.  Protein kinase CK2: a potential therapeutic target for diverse human diseases.

Authors:  Christian Borgo; Claudio D'Amore; Stefania Sarno; Mauro Salvi; Maria Ruzzene
Journal:  Signal Transduct Target Ther       Date:  2021-05-17

4.  Identification of novel CSNK2A1 variants and the genotype-phenotype relationship in patients with Okur-Chung neurodevelopmental syndrome: a case report and systematic literature review.

Authors:  Ruo-Hao Wu; Wen-Ting Tang; Kun-Yin Qiu; Xiao-Juan Li; Dan-Xia Tang; Zhe Meng; Zhan-Wen He
Journal:  J Int Med Res       Date:  2021-05       Impact factor: 1.671

5.  Structural and Enzymological Evidence for an Altered Substrate Specificity in Okur-Chung Neurodevelopmental Syndrome Mutant CK2αLys198Arg.

Authors:  Christian Werner; Alexander Gast; Dirk Lindenblatt; Anna Nickelsen; Karsten Niefind; Joachim Jose; Jennifer Hochscherf
Journal:  Front Mol Biosci       Date:  2022-04-04

6.  Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders.

Authors:  Joanne Trinh; Krishna Kumar Kandaswamy; Martin Werber; Maximilian E R Weiss; Gabriela Oprea; Shivendra Kishore; Katja Lohmann; Arndt Rolfs
Journal:  J Neurodev Disord       Date:  2019-06-25       Impact factor: 4.025

7.  Protein Kinase CK2 Subunits Differentially Perturb the Adhesion and Migration of GN11 Cells: A Model of Immature Migrating Neurons.

Authors:  Antonella Lettieri; Christian Borgo; Luca Zanieri; Claudio D'Amore; Roberto Oleari; Alyssa Paganoni; Lorenzo A Pinna; Anna Cariboni; Mauro Salvi
Journal:  Int J Mol Sci       Date:  2019-11-26       Impact factor: 5.923

8.  A complex of distal appendage-associated kinases linked to human disease regulates ciliary trafficking and stability.

Authors:  Abdelhalim Loukil; Chloe Barrington; Sarah C Goetz
Journal:  Proc Natl Acad Sci U S A       Date:  2021-04-20       Impact factor: 11.205

9.  Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome.

Authors:  Moe Akahira-Azuma; Yoshinori Tsurusaki; Yumi Enomoto; Jun Mitsui; Kenji Kurosawa
Journal:  Hum Genome Var       Date:  2018-03-29

10.  Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.

Authors:  Zhenwei Liu; Na Zhang; Yu Zhang; Yaoqiang Du; Tao Zhang; Zhongshan Li; Jinyu Wu; Xiaobing Wang
Journal:  Front Genet       Date:  2018-09-18       Impact factor: 4.599
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