Search Results - "Elouej, Sahar"

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology by Elouej, Sahar, Harhouri, Karim, Le Mao, Morgane, Baujat, Genevieve, Nampoothiri, Sheela, Kayserili, Hϋlya, Menabawy, Nihal Al, Selim, Laila, Paneque, Arianne Llamos, Kubisch, Christian, Lessel, Davor, Rubinsztajn, Robert, Charar, Chayki, Bartoli, Catherine, Airault, Coraline, Deleuze, Jean-François, Rötig, Agnes, Bauer, Peter, Pereira, Catarina, Loh, Abigail, Escande-Beillard, Nathalie, Muchir, Antoine, Martino, Lisa, Gruenbaum, Yosef, Lee, Song-Hua, Manivet, Philippe, Lenaers, Guy, Reversade, Bruno, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara

“…Mandibuloacral dysplasia syndromes are mainly due to recessive LMNA or ZMPSTE24 mutations, with cardinal nuclear morphological abnormalities and dysfunction…”
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Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) by Elouej, Sahar, Beleza-Meireles, Ana, Caswell, Richard, Colclough, Kevin, Ellard, Sian, Desvignes, Jean Pierre, Béroud, Christophe, Lévy, Nicolas, Mohammed, Shehla, Desandre-Giovannoli, Annachiara

“…Abstract Background Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder…”
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Antibody-mediated neutralization of galectin-3 as a strategy for the treatment of systemic sclerosis by Ortega-Ferreira, Céline, Soret, Perrine, Robin, Gautier, Speca, Silvia, Hubert, Sandra, Le Gall, Marianne, Desvaux, Emiko, Jendoubi, Manel, Saint-Paul, Julie, Chadli, Loubna, Chomel, Agnès, Berger, Sylvie, Nony, Emmanuel, Neau, Béatrice, Fould, Benjamin, Licznar, Anne, Levasseur, Franck, Guerrier, Thomas, Elouej, Sahar, Courtade-Gaïani, Sophie, Provost, Nicolas, Nguyen, The Quyen, Verdier, Julien, Launay, David, De Ceuninck, Frédéric

“…Systemic sclerosis (SSc) is an autoimmune, inflammatory and fibrotic disease with limited treatment options. Developing new therapies is therefore crucial to…”
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The Potential of Induced Pluripotent Stem Cells to Test Gene Therapy Approaches for Neuromuscular and Motor Neuron Disorders by Cappella, Marisa, Elouej, Sahar, Biferi, Maria Grazia

“…The reprogramming of somatic cells into induced pluripotent stem cells (iPSCs) represents a major advance for the development of human disease models. The…”
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Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family by Charfeddine, Cherine, Dallali, Hamza, Abdessalem, Ghaith, Ghedira, Kais, Hamdi, Yosr, Elouej, Sahar, Landoulsi, Zied, Delague, Valérie, Lagarde, Arnaud, Levy, Nicolas, El-Amraoui, Aziz, Boubaker, Mohamed Samir, Abdelhak, Sonia, Mokni, Mourad

“…Molecular diagnosis of rare inherited palmoplantar keratoderma (PPK) is still challenging. We investigated at the clinical and genetic level a consanguineous…”
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Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young by Jaouadi, Hager, Bouyacoub, Yosra, Chabrak, Sonia, Kraoua, Lilia, Zaroui, Amira, Elouej, Sahar, Nagara, Majdi, Dallali, Hamza, Delague, Valérie, Levy, Nicolas, Benkhalifa, Rym, Mechmeche, Rachid, Zaffran, Stéphane, Abdelhak, Sonia

“…Unexplained sudden death in the young is cardiovascular in most cases. Structural and conduction defects in cardiac-related genes can conspire to underlie…”
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Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism by Mkaouar, Rahma, Abdallah, Lamia Cherif Ben, Naouali, Chokri, Lahbib, Saida, Turki, Zinet, Elouej, Sahar, Bouyacoub, Yosra, Somai, Maali, Mcelreavey, Kenneth, Bashamboo, Anu, Abdelhak, Sonia, Messaoud, Olfa

“…The role of the prokineticin 2 pathway in human reproduction, olfactory bulb morphogenesis, and gonadotropin-releasing hormone secretion is well established…”
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Association of HNF1A gene variants and haplotypes with metabolic syndrome: a case-control study in the Tunisian population and a meta-analysis by Dallali, Hamza, Hechmi, Meriem, Morjane, Imane, Elouej, Sahar, Jmel, Haifa, Ben Halima, Yosra, Abid, Abdelmajid, Bahlous, Afef, Barakat, Abdelhamid, Jamoussi, Henda, Abdelhak, Sonia, Kefi, Rym

“…Variants in the Hepatocyte Nuclear Factor 1 Alpha gene (HNF1A) are associated with lipoproteins levels and type 2 diabetes. In this study, we aimed to assess…”
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Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology by Elouej, Sahar, Harhouri, Karim, Mao, Morgane Le, Baujat, Genevieve, Nampoothiri, Sheela, Kayserili, Hϋlya, Menabawy, Nihal Al, Selim, Laila, Paneque, Arianne Llamos, Kubisch, Christian, Lessel, Davor, Rubinsztajn, Robert, Charar, Chayki, Bartoli, Catherine, Airault, Coraline, Deleuze, Jean-François, Rötig, Agnes, Bauer, Peter, Pereira, Catarina, Loh, Abigail, Escande-Beillard, Nathalie, Muchir, Antoine, Martino, Lisa, Gruenbaum, Yosef, Lee, Song-Hua, Manivet, Philippe, Lenaers, Guy, Reversade, Bruno, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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Case Report: Identification of Novel Variants in ERCC4 and DDB2 Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype by Nabouli, Imen, Chikhaoui, Asma, Othman, Houcemeddine, Elouej, Sahar, Jones, Meriem, Lagarde, Arnaud, Rekaya, Meriem Ben, Messaoud, Olfa, Zghal, Mohamed, Delague, Valerie, Levy, Nicolas, De Sandre-Giovannoli, Annachiara, Abdelhak, Sonia, Yacoub-Youssef, Houda

“…Xeroderma Pigmentosum (XP) is a rare genetic disorder affecting the nucleotide excision repair system (NER). It is characterized by an extreme sensitivity to…”
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Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins by Jaballah-Gabteni, Amira, Tounsi, Haifa, Kabbage, Maria, Hamdi, Yosr, Elouej, Sahar, Ben Ayed, Ines, Medhioub, Mouna, Mahmoudi, Moufida, Dallali, Hamza, Yaiche, Hamza, Ben Jemii, Nadia, Maaloul, Afifa, Mezghani, Najla, Abdelhak, Sonia, Hamzaoui, Lamine, Azzouz, Mousaddak, Boubaker, Samir

“…Lynch syndrome (LS) is a highly penetrant inherited cancer predisposition syndrome, characterized by autosomal dominant inheritance and germline mutations in…”
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FANCA Gene Mutations in North African Fanconi Anemia Patients by Ben Haj Ali, Abir, Messaoud, Olfa, Elouej, Sahar, Talmoudi, Faten, Ayed, Wiem, Mellouli, Fethi, Ouederni, Monia, Hadiji, Sondes, De Sandre-Giovannoli, Annachiara, Delague, Valérie, Lévy, Nicolas, Bogliolo, Massimo, Surrallés, Jordi, Abdelhak, Sonia, Amouri, Ahlem

“…Populations in North Africa (NA) are characterized by a high rate of consanguinity. Consequently, the proportion of founder mutations might be higher than…”
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Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing by Dallali, Hamza, Pezzilli, Serena, Hechmi, Meriem, Sallem, Om Kalthoum, Elouej, Sahar, Jmel, Haifa, Ben Halima, Yosra, Chargui, Mariem, Gharbi, Mariem, Mercuri, Luana, Alberico, Federica, Mazza, Tommaso, Bahlous, Afaf, Ben Ahmed, Melika, Jamoussi, Henda, Abid, Abdelmajid, Trischitta, Vincenzo, Abdelhak, Sonia, Prudente, Sabrina, Kefi, Rym

“…Aims Maturity Onset Diabetes of the Young (MODY) is a monogenic form of diabetes with autosomal dominant inheritance pattern. The diagnosis of MODY and its…”
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Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype by Chikhaoui, Asma, Elouej, Sahar, Nabouli, Imen, Jones, Meriem, Lagarde, Arnaud, Ben Rekaya, Meriem, Messaoud, Olfa, Hamdi, Yosr, Zghal, Mohamed, Delague, Valerie, Levy, Nicolas, De Sandre-Giovannoli, Annachiara, Abdelhak, Sonia, Yacoub-Youssef, Houda

“…Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder due to a defect in the nucleotide excision repair (NER) DNA repair pathway, characterized by…”
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Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome by Ghedira, Nehla, Lagarde, Arnaud, Ben Ameur, Karim, Elouej, Sahar, Sakka, Rania, Kerkeni, Emna, Chioukh, Fatma-Zohra, Olschwang, Sylviane, Desvignes, Jean-Pierre, Abdelhak, Sonia, Delague, Valerie, Lévy, Nicolas, Monastiri, Kamel, De Sandre-Giovannoli, Annachiara

“…Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of several genes belonging to the RAS Mitogen Activated Protein…”
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Lactase persistence in Tunisia as a result of admixture with other Mediterranean populations by Ben Halima, Yosra, Kefi, Rym, Sazzini, Marco, Giuliani, Cristina, De Fanti, Sara, Nouali, Chokri, Nagara, Majdi, Mengozzi, Giacomo, Elouej, Sahar, Abid, Abdelmajid, Jamoussi, Henda, Chouchane, Lotfi, Romeo, Giovanni, Abdelhak, Sonia, Luiselli, Donata

“…The ability to digest lactose after weaning, namely, lactase persistence (LP), is encoded by polymorphisms in the gene and varies widely in frequency among…”
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Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype by Balasubramanian, Meena, Dingemans, Alexander J M, Albaba, Shadi, Richardson, Ruth, Yates, Thabo M, Cox, Helen, Douzgou, Sofia, Armstrong, Ruth, Sansbury, Francis H, Burke, Katherine B, Fry, Andrew E, Ragge, Nicola, Sharif, Saba, Foster, Alison, De Sandre-Giovannoli, Annachiara, Elouej, Sahar, Vasudevan, Pradeep, Mansour, Sahar, Wilson, Kate, Stewart, Helen, Heide, Solveig, Nava, Caroline, Keren, Boris, Demirdas, Serwet, Brooks, Alice S, Vincent, Marie, Isidor, Bertrand, Küry, Sebastien, Schouten, Meyke, Leenders, Erika, Chung, Wendy K, Haeringen, Arie van, Scheffner, Thomas, Debray, Francois-Guillaume, White, Susan M, Palafoll, Maria Irene Valenzuela, Pfundt, Rolph, Newbury-Ecob, Ruth, Kleefstra, Tjitske

“…Witteveen-Kolk syndrome (OMIM 613406) is a recently defined neurodevelopmental syndrome caused by heterozygous loss-of-function variants in SIN3A. We define…”
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High-content multimodal analysis supports the IL-7/IL-7 receptor axis as a relevant therapeutic target in primary Sjögren's syndrome by Desvaux, Emiko, Hemon, Patrice, Soret, Perrine, Le Dantec, Christelle, Chatzis, Loukas, Cornec, Divi, Devauchelle-Pensec, Valérie, Elouej, Sahar, Duguet, Fanny, Laigle, Laurence, Poirier, Nicolas, Moingeon, Philippe, Bretin, Sylvie, Pers, Jacques-Olivier

“…While the involvement of IL-7/IL-7R axis in pSS has been described in relation to T cells, little is known about the contribution of this pathway in…”
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Particular forms of xeroderma pigmentosum and Cockayne syndrome in the Tunisian population by Chikhaoui, A., Krawa, I., Calmels, N., Obringer, C., Elouej, Sahar, de Sandre-Giovannoli, Annachiara, Levy, Nicolas, Zghal, M., Ricchetti, M., Laugel, V., Turki, I., Abdelhak, S., Yacoub-Youssef, H.

“…International Symposium on Xeroderma Pigmentosum and other Nucleotide Excision Repair Disorders Downing College, University of Cambridge, Cambridge, UK. 20–22…”
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A Rare MSH2 Variant as a Candidate Marker for Lynch Syndrome II Screening in Tunisia: A Case of Diffuse Gastric Carcinoma by Kabbage, Maria, Ben Aissa-Haj, Jihenne, Othman, Houcemeddine, Jaballah-Gabteni, Amira, Laarayedh, Sarra, Elouej, Sahar, Medhioub, Mouna, Kettiti, Haifa Tounsi, Khsiba, Amal, Mahmoudi, Moufida, BelFekih, Houda, Maaloul, Afifa, Touinsi, Hassen, Hamzaoui, Lamine, Chelbi, Emna, Abdelhak, Sonia, Boubaker, Mohamed Samir, Azzouz, Mohamed Mousaddak

“…Several syndromic forms of digestive cancers are known to predispose to early-onset gastric tumors such as Hereditary Diffuse Gastric Cancer (HDGC) and Lynch…”
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