Literature DB >> 28969376

PRUNE1: a disease-causing gene for secondary microcephaly.

Mert Karakaya1, Sanem Yilmaz2, Markus Storbeck1, Irmgard Hoelker1, Raoul Heller1, Gül Serdaroglu2, Sarenur Gökben2, Uluc Yis3, Brunhilde Wirth1.   

Abstract

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Year:  2017        PMID： 28969376     DOI： 10.1093/brain/awx197

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  2 in total

1.  Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene.

Authors:  Mehdi Agha Gholizadeh; Mina Mohammadi-Sarband; Fatemeh Fardanesh; Masoud Garshasbi
Journal:  BMC Med Genomics       Date:  2022-04-04       Impact factor: 3.063

2.  NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.

Authors:  Harikiran Nistala; John Dronzek; Claudia Gonzaga-Jauregui; Shek Man Chim; Saathyaki Rajamani; Samer Nuwayhid; Dennis Delgado; Elizabeth Burke; Ender Karaca; Matthew C Franklin; Prasad Sarangapani; Michael Podgorski; Yajun Tang; Melissa G Dominguez; Marjorie Withers; Ron A Deckelbaum; Christopher J Scheonherr; William A Gahl; May C Malicdan; Brian Zambrowicz; Nicholas W Gale; Richard A Gibbs; Wendy K Chung; James R Lupski; Aris N Economides
Journal:  Hum Mol Genet       Date:  2021-01-06       Impact factor: 6.150
  2 in total

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