Literature DB >> 29568000

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

Davide Colavito1, Elda Del Giudice2, Chiara Ceccato3, Maurizio Dalle Carbonare2, Alberta Leon2, Agnese Suppiej3,4.   

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Year:  2018        PMID： 29568000     DOI： 10.1038/s10038-018-0434-y

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


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  8 in total

1.  The 3'-untranslated region of the dystrophin gene - conservation and consequences of loss.

Authors:  Marc J Greener; Caroline A Sewry; Francesco Muntoni; Roland G Roberts
Journal:  Eur J Hum Genet       Date:  2002-07       Impact factor: 4.246

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

Authors:  Joanne Trinh; Irina Hüning; Nadja Budler; Volker Hingst; Katja Lohmann; Gabriele Gillessen-Kaesbach
Journal:  J Hum Genet       Date:  2017-07-20       Impact factor: 3.172

3.  Drosophila CK2 regulates eye morphogenesis via phosphorylation of E(spl)M8.

Authors:  Umesh C Karandikar; Regina L Trott; Jerry Yin; Clifton P Bishop; Ashok P Bidwai
Journal:  Mech Dev       Date:  2004-03       Impact factor: 1.882

4.  Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.

Authors:  A T G Chiu; S L C Pei; C C Y Mak; G K C Leung; M H C Yu; S L Lee; M Vreeburg; R Pfundt; I van der Burgt; T Kleefstra; T M-T Frederic; S Nambot; L Faivre; A-L Bruel; M Rossi; B Isidor; S Küry; B Cogne; T Besnard; M Willems; M R F Reijnders; B H Y Chung
Journal:  Clin Genet       Date:  2018-02-13       Impact factor: 4.438

5.  De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.

Authors:  Volkan Okur; Megan T Cho; Lindsay Henderson; Kyle Retterer; Michael Schneider; Shannon Sattler; Dmitriy Niyazov; Meron Azage; Sharon Smith; Jonathan Picker; Sharyn Lincoln; Mark Tarnopolsky; Lauren Brady; Hans T Bjornsson; Carolyn Applegate; Amy Dameron; Rebecca Willaert; Berivan Baskin; Jane Juusola; Wendy K Chung
Journal:  Hum Genet       Date:  2016-04-05       Impact factor: 4.132

6.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

Review 7.  Phenotype-driven strategies for exome prioritization of human Mendelian disease genes.

Authors:  Damian Smedley; Peter N Robinson
Journal:  Genome Med       Date:  2015-07-30       Impact factor: 11.117

8.  The Conserved MAPK Site in E(spl)-M8, an Effector of Drosophila Notch Signaling, Controls Repressor Activity during Eye Development.

Authors:  Mohna Bandyopadhyay; Clifton P Bishop; Ashok P Bidwai
Journal:  PLoS One       Date:  2016-07-18       Impact factor: 3.240
  8 in total
  6 in total

1.  Protein kinase CK2 phosphorylates a conserved motif in the Notch effector E(spl)-Mγ.

Authors:  Lucas M Jozwick; Ashok P Bidwai
Journal:  Mol Cell Biochem       Date:  2022-09-10       Impact factor: 3.842

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.  Comparing Two Neurodevelopmental Disorders Linked to CK2: Okur-Chung Neurodevelopmental Syndrome and Poirier-Bienvenu Neurodevelopmental Syndrome-Two Sides of the Same Coin?

Authors:  Demetra Ballardin; Jose M Cruz-Gamero; Thierry Bienvenu; Heike Rebholz
Journal:  Front Mol Biosci       Date:  2022-05-26

Review 4.  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

5.  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

6.  The Okur-Chung Neurodevelopmental Syndrome Mutation CK2K198R Leads to a Rewiring of Kinase Specificity.

Authors:  Danielle M Caefer; Nhat Q Phan; Jennifer C Liddle; Jeremy L Balsbaugh; Joseph P O'Shea; Anastasios V Tzingounis; Daniel Schwartz
Journal:  Front Mol Biosci       Date:  2022-04-19
  6 in total

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