Paul Gueguen
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Explore the profile of Paul Gueguen including associated specialties, affiliations and a list of published articles.
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55
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1038
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Recent Articles
1.
Sabeh P, Dumas S, Maios C, Daghar H, Korzeniowski M, Rousseau J, et al.
Am J Hum Genet
. 2024 Dec;
112(1):75-86.
PMID: 39721588
E3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase UBR5 in 29...
2.
Civit A, Ronce N, Cogne B, Besnard T, Laurenceau D, Hubert C, et al.
Clin Genet
. 2024 Nov;
107(2):231-233.
PMID: 39523020
Identification of the first pathogenic branch point variant in the SMS gene in a large French non-consanguineous family with a phenotype retrospectively consistent with Snyder-Robinson syndrome. RT-PCR analysis followed by...
3.
Stehr A, Lenberg J, Friedman J, Dobbelaere D, Imbard A, Levy J, et al.
Clin Genet
. 2024 Oct;
107(1):91-97.
PMID: 39367743
Plasma membrane calcium ATPases (PMCAs) encoded by ATP2B genes have been implicated in Mendelian diseases with ataxia, dystonia, and intellectual disability. Work to date has shown that ATP2B2 (encoding PMCA2)...
4.
Layo-Carris D, Lubin E, Sangree A, Clark K, Durham E, Gonzalez E, et al.
Eur J Hum Genet
. 2024 Jul;
32(8):1032.
PMID: 39060653
No abstract available.
5.
Layo-Carris D, Lubin E, Sangree A, Clark K, Durham E, Gonzalez E, et al.
Eur J Hum Genet
. 2024 Apr;
32(8):928-937.
PMID: 38678163
Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1-4]. This syndrome...
6.
Dohrn M, Bademci G, Rebelo A, Jeanne M, Borja N, Beijer D, et al.
Ann Clin Transl Neurol
. 2024 Mar;
11(4):1075-1079.
PMID: 38504481
ATP1A1 encodes a sodium-potassium ATPase that has been linked to several neurological diseases. Using exome and genome sequencing, we identified the heterozygous ATP1A1 variant NM_000701.8: c.2707G>A;p.(Gly903Arg) in two unrelated children...
7.
Civit A, Gueguen P, Blasco H, Benz-de-Bretagne I, Lebredonchel E, Dingeo G, et al.
Clin Chim Acta
. 2024 Feb;
551:117620.
PMID: 38375626
Herein, we described the case of a newborn male, from consanguineous parents, who developed, at day 11 of life, an obstructive hydrocephalus resulting from bilateral cerebellar hemorrhage without evident cause....
8.
Andreatta M, Herault L, Gueguen P, Gfeller D, Berenstein A, Carmona S
Nat Commun
. 2024 Jan;
15(1):872.
PMID: 38287014
Batch effects in single-cell RNA-seq data pose a significant challenge for comparative analyses across samples, individuals, and conditions. Although batch effect correction methods are routinely applied, data integration often leads...
9.
Lopez-Cobo S, Fuentealba J, Gueguen P, Bonte P, Tsalkitzi K, Chacon I, et al.
Cancer Discov
. 2023 Nov;
14(1):120-141.
PMID: 37934001
Significance: Limited CAR T-cell expansion and persistence hinders therapeutic responses in solid cancer patients. We show that targeting SUV39H1 histone methyltransferase enhances 41BB-based CAR T-cell long-term protection against tumor relapses...
10.
Andreatta M, Gueguen P, Borcherding N, Carmona S
Bio Protoc
. 2023 Aug;
13(16):e4735.
PMID: 37638293
T cells are endowed with T-cell antigen receptors (TCR) that give them the capacity to recognize specific antigens and mount antigen-specific adaptive immune responses. Because TCR sequences are distinct in...