Laurence Colleaux
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Explore the profile of Laurence Colleaux including associated specialties, affiliations and a list of published articles.
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72
Citations
2739
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Recent Articles
1.
Cardoso D, Guilbert S, Guigue P, Carabalona A, Harhouri K, Peccate C, et al.
Cell Death Dis
. 2024 Oct;
15(10):723.
PMID: 39353941
Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disorder associated with features of accelerated aging. HGPS is an autosomal dominant disease caused by a de novo mutation of LMNA...
2.
Baylot V, Le T, Taieb D, Rocchi P, Colleaux L
Commun Biol
. 2024 Apr;
7(1):489.
PMID: 38653753
Rare diseases (RD) affect a small number of people compared to the general population and are mostly genetic in origin. The first clinical signs often appear at birth or in...
3.
Le T, Duong Q, Baylot V, Fargette C, Baboudjian M, Colleaux L, et al.
Cancers (Basel)
. 2023 Oct;
15(20).
PMID: 37894414
Prostate cancer (PC) is the second most common cancer in men worldwide. Despite recent advances in diagnosis and treatment, castration-resistant prostate cancer (CRPC) remains a significant medical challenge. Prostate cancer...
4.
Mascibroda L, Shboul M, Elrod N, Colleaux L, Hamamy H, Huang K, et al.
Nat Commun
. 2022 Oct;
13(1):6054.
PMID: 36229431
Oral-facial-digital (OFD) syndromes are a heterogeneous group of congenital disorders characterized by malformations of the face and oral cavity, and digit anomalies. Mutations within 12 cilia-related genes have been identified...
5.
Coursimault J, Guerrot A, Morrow M, Schramm C, Zamora F, Shanmugham A, et al.
Hum Genet
. 2021 Nov;
141(1):65-80.
PMID: 34748075
Pathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include heterozygous missense, truncating variants and 2p25.3 microdeletions and cause a syndromic neurodevelopmental disorder (OMIM#616,521). Despite enrichment in de novo...
6.
Ucuncu E, Rajamani K, Wilson M, Medina-Cano D, Altin N, David P, et al.
Nat Commun
. 2020 Dec;
11(1):6087.
PMID: 33257696
Inositol polyphosphates are vital metabolic and secondary messengers, involved in diverse cellular functions. Therefore, tight regulation of inositol polyphosphate metabolism is essential for proper cell physiology. Here, we describe an...
7.
Husain R, Grimmel M, Wagner M, Hennings J, Marx C, Feichtinger R, et al.
Am J Hum Genet
. 2020 Jul;
107(2):364-373.
PMID: 32707086
We report bi-allelic pathogenic HPDL variants as a cause of a progressive, pediatric-onset spastic movement disorder with variable clinical presentation. The single-exon gene HPDL encodes a protein of unknown function...
8.
Fregeac J, Moriceau S, Poli A, Nguyen L, Oury F, Colleaux L
Mol Autism
. 2020 Apr;
11(1):22.
PMID: 32228681
Background: Formation and maintenance of appropriate neural networks require tight regulation of neural stem cell proliferation, differentiation, and neurogenesis. microRNAs (miRNAs) play an important role in brain development and plasticity,...
9.
Routier L, Verny F, Barcia G, Chemaly N, Desguerre I, Colleaux L, et al.
Clin Genet
. 2019 Jun;
96(3):254-260.
PMID: 31170314
Myoclonic-atonic epilepsy (MAE) is thought to have a genetic etiology. Mutations in CHD2, SLC2A1 and SLC6A1 genes have been reported in few patients showing often intellectual disability prior to MAE...
10.
Pant D, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, et al.
J Clin Invest
. 2019 Jan;
129(3):1240-1256.
PMID: 30620337
Sphingolipid imbalance is the culprit in a variety of neurological diseases, some affecting the myelin sheath. We have used whole-exome sequencing in patients with undetermined leukoencephalopathies to uncover the endoplasmic...