Charles Van Goethem
Overview
Explore the profile of Charles Van Goethem including associated specialties, affiliations and a list of published articles.
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18
Citations
111
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Recent Articles
1.
Perrin A, Garcia-Uzquiano R, Stojkovic T, Tard C, Metay C, Bergougnoux A, et al.
Int J Mol Sci
. 2024 Dec;
25(23).
PMID: 39684706
Congenital titinopathies reported to date show autosomal recessive inheritance and are caused by a variety of genomic variants, most of them located in metatranscript (MTT)-only exons. The aim of this...
2.
Store-operated calcium entry dysfunction in CRAC channelopathy: Insights from a novel STIM1 mutation
Alary B, Cintas P, Claude C, Dellis O, Theze C, Van Goethem C, et al.
Clin Immunol
. 2024 Jul;
265:110306.
PMID: 38977117
Store-operated calcium entry (SOCE) plays a crucial role in maintaining cellular calcium homeostasis. This mechanism involves proteins, such as stromal interaction molecule 1 (STIM1) and ORAI1. Mutations in the genes...
3.
Vache C, Faugere V, Baux D, Mansard L, Van Goethem C, Dhaenens C, et al.
Eur J Hum Genet
. 2024 Jul;
33(1):80-88.
PMID: 38969740
X-linked retinitis pigmentosa (XLRP) is characterized by progressive vision loss leading to legal blindness in males and a broad severity spectrum in carrier females. Pathogenic alterations of the retinitis pigmentosa...
4.
Benkirane M, Bonhomme M, Morsy H, Safgren S, Marelli C, Chaussenot A, et al.
Brain
. 2024 Jun;
147(11):3681-3689.
PMID: 38884572
Alpha-tubulin 4A encoding gene (TUBA4A) has been associated with familial amyotrophic lateral sclerosis and frontotemporal dementia, based on identification of likely pathogenic variants in patients from distinct amyotrophic lateral sclerosis...
5.
Da Cunha D, Miro J, Van Goethem C, Notarnicola C, Hugon G, Carnac G, et al.
Cell Mol Life Sci
. 2024 Mar;
81(1):150.
PMID: 38512499
Deposition of the exon junction complex (EJC) upstream of exon-exon junctions helps maintain transcriptome integrity by preventing spurious re-splicing events in already spliced mRNAs. Here we investigate the importance of...
6.
Perrin A, Metay C, Savarese M, Ben Yaou R, Demidov G, Nelson I, et al.
J Med Genet
. 2023 Nov;
61(4):369-377.
PMID: 37935568
Background: Titinopathies are caused by mutations in the titin gene (). Titin is the largest known human protein; its gene has the longest coding phase with 364 exons. Titinopathies are...
7.
Yauy K, Van Goethem C, Pegeot H, Baux D, Guignard T, Theze C, et al.
Int J Mol Sci
. 2023 Apr;
24(8).
PMID: 37108493
The transition from targeted to exome or genome sequencing in clinical contexts requires quality standards, such as targeted sequencing, in order to be fully adopted. However, no clear recommendations or...
8.
de Sainte Agathe J, Filser M, Isidor B, Besnard T, Gueguen P, Perrin A, et al.
Hum Genomics
. 2023 Feb;
17(1):7.
PMID: 36765386
SpliceAI is an open-source deep learning splicing prediction algorithm that has demonstrated in the past few years its high ability to predict splicing defects caused by DNA variations. However, its...
9.
Cabello-Aguilar S, Vendrell J, Van Goethem C, Brousse M, Goze C, Frantz L, et al.
Mol Ther Nucleic Acids
. 2022 Oct;
30:174-183.
PMID: 36250203
Copy-number variations (CNVs) are an essential component of genetic variation distributed across large parts of the human genome. CNV detection from next-generation sequencing data and artificial intelligence algorithms have progressed...
10.
Perrin A, Van Goethem C, Theze C, Puechberty J, Guignard T, Lecardonnel B, et al.
J Mol Diagn
. 2022 May;
24(7):719-726.
PMID: 35580751
Titin protein is responsible for muscle elasticity. The TTN gene, composed of 364 exons, is subjected to extensive alternative splicing and leads to different isoforms expressed in skeletal and cardiac...