Ons Mamai, PhD
Associate Specialist
HDF Comprehensive Cancer Ctr
School of Medicine

My academic training and research experience in Africa, Europe, Asia and the USA, have provided me with an excellent background in human genetics and molecular biology. These experiences have allowed me to develop a comprehensive understanding of molecular signaling pathways, and how gene expression alterations contribute to human disease.

Awards

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• ARAP, A-STAR, 2012-2014
• IBN Kouldoun Awrd, American Tunisian Center

Publications (16)

Top publication keywords:
HaplotypesConjunctival NeoplasmsCarcinoma, Squamous CellGlycogen Storage Disease Type IIIFamily HealthSkin NeoplasmsSequence DeletionGlycogen Debranching Enzyme SystemFounder EffectPedigreeKeratoderma, PalmoplantarTunisiaMicrosatellite RepeatsKeratoacanthomaAurora Kinase C

• TGFβ: Signaling Blockade for Cancer Immunotherapy.
  Annual review of cancer biology 2021 Chen SY, Mamai O, Akhurst RJ
• Enhanced TGF-β Signaling Contributes to the Insulin-Induced Angiogenic Responses of Endothelial Cells.
  iScience 2019 Budi EH, Mamai O, Hoffman S, Akhurst RJ, Derynck R
• From prevention to cure, repurposing anti-viral vaccines for cancer immunotherapy.
  Biotarget 2018 Mamai O, Dodagatta-Marri E, Akhurst RJ
• ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis
  2018 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 …
• 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 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 …

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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.
  Journal of assisted reproduction and genetics 2015 Ghédir H, Gribaa M, Mamaî O, Ben Charfeddine I, Braham A, Amara A, Mehdi M, Saad A, Ibala-Romdhane S
• Genetic study in a tunisian family revealed IVS1+1G>A mutation in the CHM gene.
  Annales de biologie clinique 2015 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
• Frequency of HNF4A-P.I463V Variant in the Tunisian North-African Population and Its Relation with Diabetes Mellitus.
  Iranian journal of public health 2015 Amara A, Ben Charfeddine I, Ghédir H, Mamaï O, Jemni-Yacoub S, Chaieb L, Saad A, Chadli-Chaieb M, Gribaa M
• Multiple self-healing palmoplantar carcinoma: a familial predisposition to skin cancer with primary palmoplantar and conjunctival lesions.
  The Journal of investigative dermatology 2014 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
• Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.
  Nature genetics 2012 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 …
• Reduction of palmoplantar keratoderma Buschke-Fischer-Brauer locus to only 0.967 Mb.
  Journal of dermatological science 2012 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
• Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family.
  General and comparative endocrinology 2011 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
• A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect.
  Clinical genetics 2011 Mili A, Ben Charfeddine I, Amara A, Mamaï O, Adala L, Ben Lazreg T, Bouguila J, Saad A, Limem K, Gribaa M
• Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III.
  Journal of human genetics 2011 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
• Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients.
  European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2011 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
• [Clinical and genetic characteristics of Buschke-Fischer-Brauer's disease in a Tunisian family].
  Annales de dermatologie et de venereologie 2010 El Amri I, Mamai O, Ghariani N, Denguezli M, Sriha B, Adala L, Saad A, Gribaa M, Nouira R