Marie Pequignot
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Explore the profile of Marie Pequignot including associated specialties, affiliations and a list of published articles.
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Articles
12
Citations
246
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Recent Articles
1.
Damodar K, Dubois G, Guillou L, Mamaeva D, Pequignot M, Erkilic N, et al.
Mol Ther
. 2024 Oct;
32(12):4319-4336.
PMID: 39385467
Inherited retinal diseases (IRDs) are characterized by progressive vision loss. There are over 270 causative IRD genes, and variants within the same gene can cause clinically distinct disorders. One example...
2.
Olivier G, Brabet P, Pirot N, Broyon M, Guillou L, Cazevieille C, et al.
Genes (Basel)
. 2022 Sep;
13(9).
PMID: 36140676
Several pathogenic variants have been reported in the gene associated with the inherited retinal disorders vitelliform macular dystrophy (VMD) and retinitis pigmentosa (RP). and its paralog encode for two proteoglycans,...
3.
Willems M, Wells C, Coubes C, Pequignot M, Kuony A, Michon F
Invest Ophthalmol Vis Sci
. 2022 Aug;
63(9):3.
PMID: 35925585
As part of the lacrimal apparatus, the lacrimal gland participates in the maintenance of a healthy eye surface by producing the aqueous part of the tear film. Alacrimia and hypolacrimia,...
4.
Piro-Megy C, Sarzi E, Tarres-Sole A, Pequignot M, Hensen F, Quiles M, et al.
J Clin Invest
. 2019 Sep;
130(1):143-156.
PMID: 31550237
Mutations in genes encoding components of the mitochondrial DNA (mtDNA) replication machinery cause mtDNA depletion syndromes (MDSs), which associate ocular features with severe neurological syndromes. Here, we identified heterozygous missense...
5.
Sarzi E, Seveno M, Piro-Megy C, Elziere L, Quiles M, Pequignot M, et al.
Sci Rep
. 2018 Feb;
8(1):2468.
PMID: 29410463
Dominant optic atrophy (DOA) is a rare progressive and irreversible blinding disease which is one of the most frequent forms of hereditary optic neuropathy. DOA is mainly caused by dominant...
6.
Jagodzinska J, Sarzi E, Cavalier M, Seveno M, Baecker V, Hamel C, et al.
J Vis Exp
. 2017 Oct;
(127).
PMID: 28994761
Structural changes in the retina are common manifestations of ophthalmic diseases. Optical coherence tomography (OCT) enables their identification in vivo-rapidly, repetitively, and at a high resolution. This protocol describes OCT...
7.
Meunier I, Lenaers G, Bocquet B, Baudoin C, Piro-Megy C, Cubizolle A, et al.
Hum Mol Genet
. 2016 Jan;
25(5):916-26.
PMID: 26744326
Inherited retinal dystrophies are clinically and genetically heterogeneous with significant number of cases remaining genetically unresolved. We studied a large family from the West Indies islands with a peculiar retinal...
8.
Assou S, Pourret E, Pequignot M, Rigau V, Kalatzis V, Ait-Ahmed O, et al.
Stem Cells Dev
. 2015 Jul;
24(19):2317-27.
PMID: 26153797
Pluripotency is at the crossroads of stem cell research and biology of reproduction. The mature metaphase II oocyte contains the key factors for pluripotency induction and maintenance as assessed by...
9.
Ramirez J, Bai Q, Pequignot M, Becker F, Kassambara A, Bouin A, et al.
Stem Cells Dev
. 2013 Jan;
22(12):1851-60.
PMID: 23360234
In culture, human pluripotent stem cells (PSCs) are phenotypically (for instance, the SSEA3 expression level) and functionally (capacity to survive after single-cell dissociation) heterogeneous. We report here that the side...
10.
Tesniere A, Abermil N, Schlemmer F, Casares N, Kepp O, Pequignot M, et al.
Cell Cycle
. 2010 Jul;
9(14):2830-5.
PMID: 20647758
The generation of specific T lymphocyte subsets is under the strict control of specific transcription factors, as this has been shown by knockout experiments in mice. Here, we show that...