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Enhanced TGF-β Signaling Contributes to the Insulin-Induced Angiogenic Responses of Endothelial Cells. iScience. 2019 Jan 25; 11:474-491.
Budi EH, Mamai O, Hoffman S, Akhurst RJ, Derynck R. PMID: 30684493; PMCID: PMC6348203.
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From prevention to cure, repurposing anti-viral vaccines for cancer immunotherapy. Biotarget. 2018 Dec; 2.
Mamai O, Dodagatta-Marri E, Akhurst RJ. PMID: 30906919; PMCID: PMC6428074.
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ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis. 2018; 2(138)::291-300.
Chourabi M1, Liew MS2, Lim S2, H'mida-Ben Brahim D3, Boussofara L4, Dai L2, Wong PM5, Foo JN6, Sriha B7, Robinson KS8, Denil S8, Common JE9, Mamaï O10, Ben Khalifa Y11, Bollen M12, Liu J6, Denguezli M4, Bonnard C5, Saad A3, Reversade B13.
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Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation. Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation. 2016; 167(1):187-202.
Franklin L. Zhong17, Ons Mamaï17, Lorenzo Sborgi, Lobna Boussofara, Richard Hopkins, Kim Robinson, Ildikó Szeverényi, Takuya Takeichi, Reshmaa Balaji, Aristotle Lau, Hazel Tye, Keya Roy, Carine Bonnard, Patricia J. Ahl, Leigh Ann Jones, Paul Baker, Lukas Lacina, Atsushi Otsuka, Pierre R. Fournie, François Malecaze, E. Birgitte Lane, Masashi Akiyama, Kenji Kabashima, John E. Connolly, Seth L. Masters, Vincent J. Soler, Salma Samir Omar, John A. McGrath, Roxana Nedelcu, Moez Gribaa, Mohamed Denguezli, Ali Saad, Sebastian Hiller, Bruno Reversade18. View Publication.
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Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population. J Assist Reprod Genet. 2015 Nov; 32(11):1651-8.
Ghédir H, Gribaa M, Mamaî O, Ben Charfeddine I, Braham A, Amara A, Mehdi M, Saad A, Ibala-Romdhane S. PMID: 26341096; PMCID: PMC4651955.
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HumansCells
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Genetic study in a tunisian family revealed IVS1+1G>A mutation in the CHM gene. Ann Biol Clin (Paris). 2015 Jul-Aug; 73(4):469-73.
Ben Charfeddine I, Ben Lazreg T, Ben Rayana N, Amara A, Mamaï O, Knani L, Mili A, M'sakni A, Saad A, Ben Hadj Hamida F, Gribaa M. PMID: 26411914.
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Humans
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Frequency of HNF4A-P.I463V Variant in the Tunisian North-African Population and Its Relation with Diabetes Mellitus. Iran J Public Health. 2015 Mar; 44(3):396-403.
Amara A, Ben Charfeddine I, Ghédir H, Mamaï O, Jemni-Yacoub S, Chaieb L, Saad A, Chadli-Chaieb M, Gribaa M. PMID: 25905084; PMCID: PMC4402419.
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Multiple self-healing palmoplantar carcinoma: a familial predisposition to skin cancer with primary palmoplantar and conjunctival lesions. J Invest Dermatol. 2015 Jan; 135(1):304-308.
Mamaï O, Boussofara L, Denguezli M, Escande-Beillard N, Kraeim W, Merriman B, Ben Charfeddine I, Stevanin G, Bouraoui S, Amara A, Mili A, Nouira R, H'mida D, Sriha B, Gribaa M, Saad A, Reversade B. PMID: 25050600; PMCID: PMC4269804.
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6 Fields:
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Humans
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Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. Nat Genet. 2012 Nov; 44(11):1272-6.
Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran B, Wilson NJ, Smith FJ, Goh CS, Sandilands A, Cole C, Barton GJ, Evans AT, Shimizu H, Akiyama M, Suehiro M, Konohana I, Shboul M, Teissier S, Boussofara L, Denguezli M, Saad A, Gribaa M, Dopping-Hepenstal PJ, McGrath JA, Brown SJ, Goudie DR, Reversade B, Munro CS, McLean WH. PMID: 23064416; PMCID: PMC3836166.
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21 Fields:
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HumansCells
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Reduction of palmoplantar keratoderma Buschke-Fischer-Brauer locus to only 0.967 Mb. J Dermatol Sci. 2012 Sep; 67(3):210-2.
Mamaï O, Boussofara L, Adala L, Amara A, Ben Charfeddine I, Ghariani N, Sriha B, Denguezli M, Mili A, Belazreg T, Saad A, Fischer J, Gribaa M. PMID: 22789686.
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1 Fields:
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HumansCells
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Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family. Gen Comp Endocrinol. 2012 Feb 01; 175(3):514-8.
Ben Charfeddine I, Riepe FG, Kahloul N, Kulle AE, Adala L, Mamaï O, Amara A, Mili A, Amri F, Saad A, Holterhus PM, Gribaa M. PMID: 22210247.
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5 Fields:
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HumansCells
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A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect. Clin Genet. 2012 Dec; 82(6):534-9.
Mili A, Ben Charfeddine I, Amara A, Mamaï O, Adala L, Ben Lazreg T, Bouguila J, Saad A, Limem K, Gribaa M. PMID: 22035446.
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3 Fields:
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HumansCells
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Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III. J Hum Genet. 2012 Mar; 57(3):170-5.
Mili A, Ben Charfeddine I, Mamaï O, Abdelhak S, Adala L, Amara A, Pagliarani S, Lucchiarri S, Lucchiari S, Ayadi A, Tebib N, Harbi A, Bouguila J, H'Mida D, Saad A, Limem K, Comi GP, Gribaa M. PMID: 22089644.
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6 Fields:
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Humans
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Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients. Eur J Paediatr Neurol. 2012 Mar; 16(2):167-74.
Amara A, Adala L, Ben Charfeddine I, Mamaï O, Mili A, Lazreg TB, H'mida D, Amri F, Salem N, Boughammura L, Saad A, Gribaa M. PMID: 21821450.
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14 Fields:
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HumansCells
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[Clinical and genetic characteristics of Buschke-Fischer-Brauer's disease in a Tunisian family]. Ann Dermatol Venereol. 2010 Apr; 137(4):269-75.
El Amri I, Mamai O, Ghariani N, Denguezli M, Sriha B, Adala L, Saad A, Gribaa M, Nouira R. PMID: 20417359.
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3 Fields:
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HumansCells