Literature DB >> 28972664

An extremely severe phenotype attributed to WDR81 nonsense mutations.

Gerarda Cappuccio1,2, Michele Pinelli1,2, Annalaura Torella2,3, Giuseppina Vitiello1, Alessandra D'Amico4, Marianna Alagia1,2, Ennio Del Giudice1, Vincenzo Nigro2,3, Nicola Brunetti-Pierri1,2.   

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Year:  2017        PMID： 28972664     DOI： 10.1002/ana.25058

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


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  5 in total

Review 1.  Diagnostic Approach to Cerebellar Hypoplasia.

Authors:  Andrea Accogli; Nassima Addour-Boudrahem; Myriam Srour
Journal:  Cerebellum       Date:  2021-02-03       Impact factor: 3.847

2.  A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia.

Authors:  Tibor Kalmár; Katalin Szakszon; Zoltán Maróti; Alíz Zimmermann; Adrienn Máté; Melinda Zombor; Csaba Bereczki; László Sztriha
Journal:  J Pediatr Genet       Date:  2020-05-28

3.  Reduction of WDR81 impairs autophagic clearance of aggregated proteins and cell viability in neurodegenerative phenotypes.

Authors:  Xuezhao Liu; Limin Yin; Tianyou Li; Lingxi Lin; Jie Zhang; Yang Li
Journal:  PLoS Genet       Date:  2021-03-17       Impact factor: 5.917

4.  Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations.

Authors:  Mohamed S Abdel-Hamid; Sahar Sabry; Sherif F Abdel-Ghafar; Sara H El-Dessouky; Ghada M H Abdel-Salam
Journal:  Neurogenetics       Date:  2021-08-02       Impact factor: 2.660

5.  Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement.

Authors:  Jiasun Su; Weiliang Lu; Mengting Li; Qiang Zhang; Fei Chen; Shang Yi; Qi Yang; Sheng Yi; Xunzhao Zhou; Limei Huang; Yiping Shen; Jingsi Luo; Zailong Qin
Journal:  Mol Genet Genomic Med       Date:  2021-03-16       Impact factor: 2.183
  5 in total

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