Nicole Porchet
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Explore the profile of Nicole Porchet including associated specialties, affiliations and a list of published articles.
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56
Citations
972
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Recent Articles
1.
Coppin L, Jannin A, Ait Yahya E, Thuillier C, Villenet C, Tardivel M, et al.
Cell Death Dis
. 2020 May;
11(5):360.
PMID: 32398681
Cellular stress response contributes to epithelial defense in adaptation to environment changes. Galectins play a pivotal role in the regulation of this response in malignant cells. However, precise underlying mechanisms...
2.
Vanlerberghe C, Jourdain A, Ghoumid J, Frenois F, Mezel A, Vaksmann G, et al.
Eur J Hum Genet
. 2018 Dec;
27(3):360-368.
PMID: 30552424
Holt-Oram syndrome (HOS) is an autosomal dominant condition characterised by the association of congenital heart defect (CHD), with or without rhythm disturbances and radial defects, due to TBX5 variants. The...
3.
Renoux C, Odou M, Tosato G, Teoli J, Abbou N, Lombard C, et al.
Orphanet J Rare Dis
. 2018 Sep;
13(1):161.
PMID: 30223862
Alpha-1 antitrypsin deficiency is an autosomal co-dominant disorder caused by mutations of the highly polymorphic SERPINA1 gene. This genetic disorder still remains largely under-recognized and can be associated with lung...
4.
Jouhadi Z, Odou M, Zerimech F, Bousfiha A, Mikou N, Porchet N, et al.
Respir Med Case Rep
. 2018 Jul;
24:58-62.
PMID: 29977761
Alpha-1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the gene. This genetic disorder is mainly associated with development of pulmonary emphysema and/or chronic liver disease and...
5.
Leclerc J, Flament C, Lovecchio T, Delattre L, Ait Yahya E, Baert-Desurmont S, et al.
Genet Med
. 2018 May;
20(12):1589-1599.
PMID: 29790873
Purpose: Constitutional epimutations are an alternative to genetic mutations in the etiology of genetic diseases. Some of these epimutations, termed secondary, correspond to the epigenetic effects of cis-acting genetic defects...
6.
Coppin L, Leclerc J, Vincent A, Porchet N, Pigny P
Int J Mol Sci
. 2018 Mar;
19(3).
PMID: 29495341
Functional specialization of cells and tissues in metazoans require specific gene expression patterns. Biological processes, thus, need precise temporal and spatial coordination of gene activity. Regulation of the fate of...
7.
Coppin L, Vincent A, Frenois F, Duchene B, Lahdaoui F, Stechly L, et al.
Sci Rep
. 2017 Mar;
7:43927.
PMID: 28262838
Pancreatic cancer cells express high levels of MUC1, MUC4 and MUC16 mRNAs that encode membrane-bound mucins. These mRNAs share unusual features such as a long half-life. However, it remains unknown...
8.
Loyer C, Leroy C, Molin A, Odou M, Huglo D, Lion G, et al.
Ann Endocrinol (Paris)
. 2016 Jul;
77(5):615-619.
PMID: 27378451
CYP24A1 gene mutations induce infantile hypercalcemia, with high 1,25(OH)D contrasting with low PTH levels. The adult phenotype is not well known. Two unrelated adult patients were referred for nephrolithiasis, hypertension,...
9.
Joncquel-Chevalier Curt M, Voicu P, Fontaine M, Dessein A, Porchet N, Mention-Mulliez K, et al.
Biochimie
. 2015 Nov;
119:146-65.
PMID: 26542286
Creatine is physiologically provided equally by diet and by endogenous synthesis from arginine and glycine with successive involvements of arginine glycine amidinotransferase [AGAT] and guanidinoacetate methyl transferase [GAMT]. A specific...
10.
Vasseur R, Skrypek N, Duchene B, Renaud F, Martinez-Maqueda D, Vincent A, et al.
Biochim Biophys Acta
. 2015 Oct;
1849(12):1375-84.
PMID: 26477488
The membrane-bound mucinMUC4 is a high molecularweight glycoprotein frequently deregulated in cancer. In pancreatic cancer, one of the most deadly cancers in occidental countries, MUC4 is neo-expressed in the preneoplastic...