Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Faouzi Baklouti"'
Autor:
Faouzi Baklouti, Jean Delaunay
Publikováno v:
Haematologica, Vol 98, Iss 6 (2013)
Externí odkaz:
https://doaj.org/article/5de1b675a5634776ae66fda9e72bee24
Autor:
Osman Breig, Faouzi Baklouti
Publikováno v:
PLoS ONE, Vol 8, Iss 3, p e59137 (2013)
SR proteins exhibit diverse functions ranging from their role in constitutive and alternative splicing, to virtually all aspects of mRNA metabolism. These findings have attracted growing interest in deciphering the regulatory mechanisms that control
Externí odkaz:
https://doaj.org/article/754a23c506b04492acbb916a7aa181b9
Publikováno v:
Biochemistry. 59:1391-1397
Spinal muscle atrophy (SMA) is the leading genetic cause of infant mortality. SMA originates from the loss of functional survival motor neuron (SMN) protein. In most SMA cases, the SMN1 gene is deleted. However, in some cases, SMN is mutated, impairi
Autor:
Olivier Binda, Franceline Juillard, Julia Novion Ducassou, Constance Kleijwegt, Geneviève Paris, Andréanne Didillon, Faouzi Baklouti, Armelle Corpet, Yohann Couté, Jocelyn Côté, Patrick Lomonte
Publikováno v:
Life Science Alliance. 6:e202201429
Although recent advances in gene therapy provide hope for spinal muscular atrophy (SMA) patients, the pathology remains the leading genetic cause of infant mortality. SMA is a monogenic pathology that originates from the loss of theSMN1gene in most c
Publikováno v:
Biochemistry. 59(14)
Spinal muscle atrophy (SMA) is the leading genetic cause of infant mortality. SMA originates from the loss of functional survival motor neuron (SMN) protein. In most SMA cases, the
Autor:
Madeleine Fénéant-Thibault, Corinne Guitton, Yohann Couté, Faouzi Baklouti, Jean Delaunay, Henri Gruffat, Alain Ninot, Madeleine Morinière, Amel Haj-Khélil
Publikováno v:
Blood Cells, Molecules, and Diseases. 47:158-165
Complete loss of protein 4.1R in red blood cell membrane is a very rare condition in humans. We here explore the third case. The morphological and biochemical observations suggested that the proband suffers from homozygous hereditary elliptocytosis.
Autor:
Faouzi Baklouti, Amel Haj Khelil, Pascale Perrin, Sandrine Laradi, Madeleine Morinière, Abderrahim Khelif, Jemni Ben Chibani
Publikováno v:
Blood Cells, Molecules and Diseases
Blood Cells, Molecules and Diseases, Elsevier, 2011, 46 (2), pp.133-8. ⟨10.1016/j.bcmd.2010.11.002⟩
Blood Cells, Molecules and Diseases, Elsevier, 2011, 46 (2), pp.133-8. ⟨10.1016/j.bcmd.2010.11.002⟩
International audience; The -158 (C→T) nucleotide change, known as Xmn I polymorphism, occurs in (G)γ-globin gene promoter, and results in elevated fetal hemoglobin (HbF). We found this mutation in cis of a β(0)-thalassemia splicing mutation. Des
Publikováno v:
Oncogene. 29:2807-2816
Spi-1/PU.1 oncogene is downregulated as proerythroblasts undergo terminal differentiation. Insertion of the Friend virus upstream of the Spi-1/PU.1 locus leads to the constitutive upregulation of Spi-1/PU.1, and a subsequent block in the differentiat
Autor:
Jean Delaunay, Jacqueline Godet, François Morlé, Evelyne Dorléac, Claire Baudonnet, L Morle, Faouzi Baklouti
Publikováno v:
Scandinavian Journal of Haematology. 33:281-287
We report on a Moroccan family in which the proposita displays a picture of beta-thalassaemia intermedia, associated with heterozygous Hb O-Arab (beta 121 Glu----Lys) and a beta zero-thalassaemia trait. Hb O-Arab was ascertained by the disappearance
Autor:
Jemni Ben Chibani, Mireille Deguillien, Amel Haj Khelil, Faouzi Baklouti, Madeleine Morinière
Publikováno v:
FEBS Journal. 275:1150-1162
It has long been considered that cryptic splice sites are ignored by the splicing machinery in the context of intact genuine splice sites. In the present study, it is shown that cryptic splice sites are utilized in all circumstances, when the authent