Alpha 2.0
Login Register
» Authors » C Marcais

C Marcais

Explore the profile of C Marcais including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 15
Citations 300
Followers 0
Related Specialties
Genetics
Oncology
Biology
Top 10 Co-Authors
P Moulin
M Ozturk
G Millat
F Berthezene
M T Vanier
D A Wenger
S Charriere
V Pruneta
K Ohno
F Ponchel
Published In
Int J Cancer
Am J Hum Genet
Proc Natl Acad Sci U S A
J Lipid Res
Ann Dermatol Venereol
Affiliations
Soon will be listed here.
Recent Articles
1.
Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy
Marmontel O, Charriere S, Simonet T, Bonnet V, Dumont S, Mahl M, et al.
Clin Genet . 2018 Mar; 94(1):132-140. PMID: 29572815
Optimal molecular diagnosis of primary dyslipidemia is challenging to confirm the diagnosis, test and identify at risk relatives. The aim of this study was to test the application of a...
2.
Modulation of phenotypic expression of APOA5 Q97X and L242P mutations
Charriere S, Cugnet C, Guitard M, Bernard S, Groisne L, Charcosset M, et al.
Atherosclerosis . 2009 May; 207(1):150-6. PMID: 19447388
Objective: To provide phenotypic and functional data in new patients with APOA5 mutations and to identify genetic and metabolic factors influencing their phenotypic expression. Methods And Results: By sequencing APOA5...
3.
Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon
Pittis M, Ricci V, Guerci V, Marcais C, Ciana G, Dardis A, et al.
Hum Mutat . 2004 Jul; 24(2):186-7. PMID: 15241805
Niemann Pick disease (NPD) is an autosomal recessive disorder due to the deficit of lysosomal acid sphingomyelinase, which results in intracellular accumulation of sphingomyelin. In the present work we studied...
4.
[Familial hyperchylomicronemia with a new mutation of the lipoprotein lipase gene]
Causeret A, Souillet A, Marcais C, Prunetta V, Lachaux A, Faure M, et al.
Ann Dermatol Venereol . 2002 Mar; 128(12):1343-5. PMID: 11908140
Introduction: Familial hyperchylomicronemia is a rare autosomal recessive disease caused by lipoprotein lipase deficiency. Case-report: A nine month-old girl presented with eruptive xanthomas revealing a familial hyperchylomicronemia. No lipoprotein lipase...
5.
Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop
Millat G, Marcais C, Tomasetto C, Chikh K, Fensom A, Harzer K, et al.
Am J Hum Genet . 2001 May; 68(6):1373-85. PMID: 11333381
To obtain more information of the functional domains of the NPC1 protein, the mutational spectrum and the level of immunoreactive protein were investigated in skin fibroblasts from 30 unrelated patients...
6.
Ex vivo measurement of lipoprotein lipase-dependent very low density lipoprotein (VLDL)-triglyceride hydrolysis in human VLDL: an alternative to the postheparin assay of lipoprotein lipase activity?
Pruneta V, Autran D, Ponsin G, Marcais C, Duvillard L, Verges B, et al.
J Clin Endocrinol Metab . 2001 Feb; 86(2):797-803. PMID: 11158049
The plasma lipolysis of triglyceride (TG)-rich lipoproteins is mainly due to the activity of lipoprotein lipase (LPL). Albeit important for our analysis of certain physiopathological situations, the determination of the...
7.
Severe hypertriglyceridaemia in Type II diabetes: involvement of apoC-III Sst-I polymorphism, LPL mutations and apo E3 deficiency
Marcais C, Bernard S, Merlin M, Ulhmann M, Mestre B, Revol A, et al.
Diabetologia . 2000 Dec; 43(11):1346-52. PMID: 11126401
Aims/hypothesis: Hypertriglyceridaemia is common in Type II (non-insulin-dependent) diabetes mellitus. Only subgroups of patient however have type V hyperlipidaemia. To investigate the coordination between genetic factors in the modulation of...
8.
VLDL-bound lipoprotein lipase facilitates the cholesteryl ester transfer protein-mediated transfer of cholesteryl esters from HDL to VLDL
Pruneta V, Pulcini T, Lalanne F, Marcais C, Berthezene F, Ponsin G, et al.
J Lipid Res . 1999 Dec; 40(12):2333-9. PMID: 10588959
In recent years, it has been established that lipoprotein lipase (LPL) is partly associated with circulating lipoproteins. This report describes the effects of physiological amounts of very low density lipoprotein...
9.
Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype
Millat G, Marcais C, Rafi M, Yamamoto T, Morris J, Pentchev P, et al.
Am J Hum Genet . 1999 Oct; 65(5):1321-9. PMID: 10521297
Niemann-Pick type C (NPC) disease is an autosomal recessive lipid-storage disorder usually characterized by hepatosplenomegaly and severe progressive neurological dysfunction, resulting from mutations affecting either the NPC1 gene (in 95%...
10.
RER(+) phenotype in prostate intra-epithelial neoplasia associated with human prostate-carcinoma development
Miet S, Neyra M, Jaques R, Dubernard P, Revol A, Marcais C
Int J Cancer . 1999 Jul; 82(5):635-9. PMID: 10417758
The mutator (RER(+)) phenotype has been shown to be a mutational mechanism for tumour-suppressor-gene inactivation in colorectal cancer. A group of 60 prostate-carcinoma patients was studied to determine the frequency,...