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Sylvie Polak-Charcon

Explore the profile of Sylvie Polak-Charcon including associated specialties, affiliations and a list of published articles. Areas
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Articles 27
Citations 1039
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Recent Articles
1.
van Rijn J, Werner L, Aydemir Y, Spronck J, Pode-Shakked B, van Hoesel M, et al.
Int J Mol Sci . 2020 Nov; 21(21). PMID: 33147779
Hyaline fibromatosis syndrome (HFS), resulting from mutations, is an ultra-rare disease that causes intestinal lymphangiectasia and protein-losing enteropathy (PLE). The mechanisms leading to the gastrointestinal phenotype in these patients are...
2.
Barel O, Malicdan M, Ben-Zeev B, Kandel J, Pri-Chen H, Stephen J, et al.
Brain . 2017 Apr; 140(3):568-581. PMID: 28364549
Cellular distribution and dynamics of mitochondria are regulated by several motor proteins and a microtubule network. In neurons, mitochondrial trafficking is crucial because of high energy needs and calcium ion...
3.
Reish O, Aspit L, Zouella A, Roth Y, Polak-Charcon S, Baboushkin T, et al.
Hum Mutat . 2016 Apr; 37(8):727-31. PMID: 27060491
We investigated the cause of situs inversus totalis (SIT) in two siblings from a consanguineous family. Genotyping and whole-exome analysis revealed a homozygous change in NME7, resulting in deletion of...
4.
Peled Y, Gramlich M, Yoskovitz G, Feinberg M, Afek A, Polak-Charcon S, et al.
Int J Cardiol . 2013 Dec; 171(1):24-30. PMID: 24315344
Background: Familial restrictive cardiomyopathy (RCM) caused by a single gene mutation is the least common of the inherited cardiomyopathies. Only a few RCM-causing mutations have been described. Most mutations causing...
5.
Ben-Horin S, Polak-Charcon S, Barshack I, Picard O, Fudim E, Yavzori M, et al.
J Clin Immunol . 2013 Oct; 33(8):1395-402. PMID: 24142230
Purpose: To elucidate the relative role of the immune system and intestinal epithelium in the ethiopatogenesis of Celiac disease (CD). Methods: A patient with childhood CD who underwent allogeneic bone...
6.
Vilboux T, Lev A, Malicdan M, Simon A, Jarvinen P, Racek T, et al.
N Engl J Med . 2013 Jun; 369(1):54-65. PMID: 23738510
Background: Neutrophils are the predominant phagocytes that provide protection against bacterial and fungal infections. Genetically determined neutrophil disorders confer a predisposition to severe infections and reveal novel mechanisms that control...
7.
Yonath H, Reznik-Wolf H, Berkenstadt M, Eisenberg-Barzilai S, Lehtokari V, Wallgren-Pettersson C, et al.
Prenat Diagn . 2012 Feb; 32(1):70-4. PMID: 22367672
Objective: To increase awareness to the possibility of nemaline myopathy (NM) when abnormal prenatal ultrasound findings appear together with a carrier state for the common exon 55 deletion in the...
8.
Buganim Y, Madar S, Rais Y, Pomeraniec L, Harel E, Solomon H, et al.
Carcinogenesis . 2011 Sep; 32(12):1749-57. PMID: 21900211
Compelling evidences have rendered the tumor microenvironment a crucial determinant in cancer outcome. Activating transcription factor 3 (ATF3), a stress response transcription factor, is known to have a dichotomous role...
9.
Meivar-Levy I, Sapir T, Berneman D, Weissbach T, Polak-Charcon S, Ravassard P, et al.
J Transplant . 2011 Aug; 2011:252387. PMID: 21876779
Activation of the pancreatic lineage in the liver has been suggested as a potential autologous cell replacement therapy for diabetic patients. Transcription factors-induced liver-to-pancreas reprogramming has been demonstrated in numerous...
10.
Lerman G, Avivi C, Mardoukh C, Barzilai A, Tessone A, Gradus B, et al.
PLoS One . 2011 Jun; 6(6):e20916. PMID: 21687694
Background: Psoriasis is a complex disease at the cellular, genomic and genetic levels. The role of microRNAs in skin development was shown in a keratinocyte-specific Dicer knockout mouse model. Considering...