Further delineation of putative ACTB loss‐of‐function variants: A 4‐patient series-Reference-Cited by-同舟云学术

Further delineation of putative ACTB loss‐of‐function variants: A 4‐patient series

Published:2020-01-16 Issue:4 Volume:41 Page:753-758
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Baumann Matthias¹,Beaver Erin M.²,Palomares‐Bralo María³,Santos‐Simarro Fernando³,Holzer Peter⁴,Povysil Gundula⁵,Müller Thomas¹,Valovka Taras¹,Janecke Andreas R.¹⁶^ORCID

Affiliation:

1. Department of Pediatrics I Medical University of Innsbruck Innsbruck Austria

2. Mercy Kids Genetics Mercy Children's Hospital St. Louis St. Louis Missouri

3. Institute of Medical and Molecular Genetics University Hospital La Paz Madrid Spain

4. Intelligent Predictive Networks GmbH Vienna Austria

5. Institute of Bioinformatics Johannes Kepler University Linz Austria

6. Division of Human Genetics Medical University of Innsbruck Innsbruck Austria

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23970

Reference19 articles.

1. A method and server for predicting damaging missense mutations

2. A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants

3. Predicting the Functional Effect of Amino Acid Substitutions and Indels

4. ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

5. Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations

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1. The current understanding of germline predisposition in non-syndromic sagittal craniosynostosis: a systematic review;Child's Nervous System;2022-11-19

2. Frameshift mutation S368fs in the gene encoding cytoskeletal β-actin leads to ACTB-associated syndromic thrombocytopenia by impairing actin dynamics;European Journal of Cell Biology;2022-04

3. Identification of a De Novo Heterozygous Missense ACTB Variant in Baraitser–Winter Cerebrofrontofacial Syndrome;Frontiers in Genetics;2022-03-24