F. Baklouti

发表

Hereditary spherocytosis with band 3 deficiency. Association with a nonsense mutation of the band 3 gene (allele Lyon), and aggravation by a low-expression allele occurring in trans (allele Genas).

P. Maillet, J. Delaunay, N. Alloisio, 1996, Blood.

Molecular genetics of hereditary elliptocytosis and hereditary spherocytosis.

P. Maillet, L. Morlé, J. Delaunay, 1996, Annales de genetique.

Combined inhibition of PI3K and activation of MAPK p38 signaling pathways trigger erythroid alternative splicing switch of 4.1R pre-mRNA in DMSO-induced erythroleukemia cells.

O. Breig, F. Baklouti, Orianne Théoleyre-Schaal, 2013, Cellular signalling.

[Oncogenic transcription factors as splicing regulators].

F. Baklouti, O. Théoleyre, 2004, Medecine sciences : M/S.

Occurrence of the αI 22 Arg→His (CGT→CAT) spectrin mutation in Tunisia: potential association with severe elliptopoikilocytosis

L. Morlé, J. Delaunay, N. Alloisio, 1991, British journal of haematology.

Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.

L. Kotula, L. Morlé, J. Delaunay, 1993, The Journal of clinical investigation.

Homozygous deletion of EPB41 genuine AUG-containing exons results in mRNA splicing defects, NMD activation and protein 4.1R complete deficiency in hereditary elliptocytosis.

Y. Couté, A. Haj-Khélil, C. Guitton, 2011, Blood cells, molecules & diseases.

Organization of the human protein 4.1 genomic locus: new insights into the tissue-specific alternative splicing of the pre-mRNA.

T. Vulliamy, E. Benz, J. Delaunay, 1997, Genomics.

Cytoplasmic nonsense-mediated mRNA decay for a nonsense (W262X) transcript of the gene responsible for hereditary tyrosinemia, fumarylacetoacetate hydrolase.

E. W. Khandjian, R. Tanguay, N. Dreumont, 2004, Biochemical and biophysical research communications.

Proteasome-Mediated Proteolysis of SRSF5 Splicing Factor Intriguingly Co-occurs with SRSF5 mRNA Upregulation during Late Erythroid Differentiation

O. Breig, F. Baklouti, 2013, PloS one.

Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level.

Ahmed Rebai, P. Guicheney, P. Richard, 2007, Genetic testing.

A large deletion within the protein 4.1 gene associated with a stable truncated mRNA and an unaltered tissue-specific alternative splicing.

J. Delaunay, P. Maillet, J. Delaunay, 1998, Blood.

Downregulation of the Spi-1/PU.1 oncogene induces the expression of TRIM10/HERF1, a key factor required for terminal erythroid cell differentiation and survival

F. Baklouti, O. Théoleyre, Rand Blaybel, 2008, Cell Research.

JAK2V617F mRNA metabolism in myeloproliferative neoplasm cell lines

F. Delhommeau, F. Baklouti, P. Nauroy, 2014, Blood Cancer Journal.

SMA-linked SMN mutants prevent phase separation properties and SMN interactions with FMRP family members

J. Côté, Y. Couté, F. Juillard, 2022, Life Science Alliance.

Increased oxygen affinity with normal heterotropic effects in hemoglobin Loire [α88(F9)Ala→Ser]

M. Marden, H. Wajcman, J. Kister, 1988 .

Open‐heart surgery in a patient with a high oxygen affinity haemoglobin variant

D. Chassard, A. Francina, S. Estanove, 1989, Anaesthesia.

Subtle distinct regulations of late erythroid molecular events by PI3K/AKT-mediated activation of Spi-1/PU.1 oncogene autoregulation loop

O. Breig, F. Baklouti, O. Théoleyre, 2010, Oncogene.

Protein 4.1 deficiency associated with an altered binding to the spectrin-actin complex of the red cell membrane skeleton.

J. Delaunay, N. Alloisio, F. Baklouti, 1994, The Journal of clinical investigation.

The Hb F composition in a Moroccan Family with β°-thalassaemia and Hb O-Arab

F. Morlé, J. Delaunay, F. Baklouti, 2009 .

δ°‐Thalassemia in cis of βKnossos‐globin gene Normal structure and normal transient expression of the δ‐globin gene

D. Bozon, C. Gonnet, J. Delaunay, 1989 .

The association of hemoglobin Knossos and hemoglobin Lepore in an Algerian patient.

F. Morlé, J. Delaunay, F. Baklouti, 1984, Hemoglobin.

Association in cis of β+‐thalassemia and hemoglobin S

A. Francina, J. Delaunay, F. Baklouti, 1987 .

Homozygous hemoglobin Knossos (alpha 2 beta 227(B9) Ala----Ser): a new variety of beta+-thalassemia intermedia associated with delta degree- thalassemia

J. Delaunay, D. Peyramond, F. Baklouti, 1986 .

Hb Lepore-Hb C and Hb Lepore-beta 0-thalassemia compound heterozygotes in an Algerian family.

J. Delaunay, A. Francina, F. Baklouti, 1985, Hemoglobin.

thalassemia variety of beta+-thalassemia intermedia associated with delta degree- Homozygous hemoglobin Knossos (alpha 2 beta 227(B9) Ala----Ser): a new

J. Delaunay, D. Peyramond, F. Baklouti, 2013 .

Hemoglobin Grange‐Blanche [β27(B9) Ala → Val], a new variant with normal expression and increased affinity for oxygen

J. Delaunay, A. Geyssant, A. Francina, 1987, FEBS letters.

A new case of Hb Little Rock [beta 143(H21)His----Gln], a high affinity variant. Study during pregnancy.

F. Galactéros, R. Rudigoz, J. Rosa, 1987, Hemoglobin.

Hemoglobin Knossos [α2β227(B9)Ala →] in Egypt

J. Delaunay, F. Baklouti, S. Elwan, 1987 .

Unusual low sickle cell hemoglobin level

J. Delaunay, F. Baklouti, 2013, Haematologica.

Xmn I polymorphism associated with concomitant activation of Gγ and Aγ globin gene transcription on a β0-thalassemia chromosome.

J. Ben Chibani, S. Laradi, A. Khelif, 2011, Blood cells, molecules & diseases.

Multiple cis elements regulate an alternative splicing event at 4.1R pre-mRNA during erythroid differentiation.

E. Benz, E. Benz, N. Dreumont, 2001, Blood.

Cryptic splicing sites are differentially utilized in vivo

J. Ben Chibani, F. Baklouti, A. Haj Khelil, 2008, The FEBS journal.

LAMA2 mRNA processing alterations generate a complete deficiency of laminin-α2 protein and a severe congenital muscular dystrophy

N. Louhichi, F. Fakhfakh, F. Baklouti, 2008, Neuromuscular Disorders.

Band 3 Chur: a variant associated with band 3‐deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11

M. Tanner, P. Maillet, J. Delaunay, 1995, British journal of haematology.

by a low-expression allele occurring in trans (allele Genas) nonsense mutation of the band 3 gene (allele Lyon), and aggravation Hereditary spherocytosis with band 3 deficiency. Association with a

P. Maillet, J. Delaunay, N. Alloisio, 2011 .

A premature termination codon within an alternative exon affecting only the metabolism of transcripts that retain this exon

P. Maillet, J. Delaunay, F. Baklouti, 1999, Human mutation.

Chimeric probe‐mediated ribonuclease protection assay for molecular diagnosis of mRNA deficiencies

P. Maillet, J. Delaunay, F. Baklouti, 1996, Human mutation.

Elliptocytogenic alpha I/36 spectrin Sfax lacks nine amino acids in helix 3 of repeat 4. Evidence for the activation of a cryptic 5'-splice site in exon 8 of spectrin alpha-gene.

L. Denoroy, J. Delaunay, N. Alloisio, 1992, Blood.

The biochemistry of Survival Motor Neuron protein is paving the way to novel therapies for Spinal Muscle Atrophy.

F. Baklouti, P. Lomonte, O. Binda, 2020, Biochemistry.

Low Expression Allele aLELY of Red Cell Spectrin Is Associated with Mutations in Exon 40 (aV/4l Polymorphism) and Intron 45 and with Partial Skipping of Exon 46

L. Kotula, J. Delaunay, N. Alloisio, 2013 .

Sp alpha V/41: a common spectrin polymorphism at the alpha IV-alpha V domain junction. Relevance to the expression level of hereditary elliptocytosis due to alpha-spectrin variants located in trans.

J. Delaunay, N. Alloisio, F. Baklouti, 1991, The Journal of clinical investigation.

Spa V / 41 : a Common Spectrin Polymorphism at the alV-aV Domain Junction Relevance to the Expression Level of Hereditary Elliptocytosis Due to a-Spectrin Variants Located in trans

J. Delaunay, N. Alloisio, F. Baklouti, 2022 .

Subtle discrepancies of SF2/ASF ESE sequence motif among human tissues: A computational approach

Ahmed Rebai, Olfa Siala, Faouzi Baklouti, 2010, Comput. Biol. Chem..

Diffusion of a particular 4.1(−) hereditary elliptocytosis allele in the French northern Alps

J. Delaunay, F. Baklouti, L. Roda, 1993, Journal of Biosocial Science.

Elliptocytosis in patients with C-terminal domain mutations of protein 4.1 correlates with encoded messenger RNA levels rather than with alterations in primary protein structure.

F. Delhommeau, L. Ribeiro, P. Maillet, 2000, Blood.

mutation on a beta s chromosome Beta+-thalassemia in cis of a sickle cell gene: occurrence of a promoter

C. Gonnet, A. Lapillonne, J. Delaunay, 2011 .

HnRNP A1 tethers KSRP to an exon splicing silencer that inhibits an erythroid-specific splicing event in PU.1-induced erythroleukemia.

O. Breig, F. Baklouti, A. Douablin, 2015, American journal of cancer research.

Beta+-thalassemia in cis of a sickle cell gene: occurrence of a promoter mutation on a beta s chromosome.

C. Gonnet, A. Lapillonne, J. Delaunay, 1989, Blood.

Protein 4.1R expression in normal and dystrophic skeletal muscle.

F. Delhommeau, M. Fardeau, P. Leclerc, 2005, Comptes rendus biologies.

A missense mutation (Q279R) in the Fumarylacetoacetate Hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation

H. Levy, R. Tanguay, A. Bergeron, 2001, BMC Genetics.

A splicing alteration of 4.1R pre-mRNA generates 2 protein isoforms with distinct assembly to spindle poles in mitotic cells.

F. Delhommeau, L. Ribeiro, P. Leclerc, 2002, Blood.

Spi-1/PU.1 but not Fli-1 inhibits erythroid-specific alternative splicing of 4.1R pre-mRNA in murine erythroleukemia cells

F. Moreau-Gachelin, F. Morlé, J. Starck, 2004, Oncogene.

Nonsense-mediated mRNA decay (NMD) blockage promotes nonsense mRNA stabilization in protein 4.1R deficient cells carrying the 4.1R Coimbra variant of hereditary elliptocytosis.

F. Delhommeau, L. Ribeiro, A. Calender, 2010, Blood cells, molecules & diseases.

Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness

S. Masmoudi, H. Ayadi, F. Baklouti, 2010, Molecular vision.

Asynchronous regulation of splicing events within protein 4.1 pre-mRNA during erythroid differentiation.

V. Marchesi, E. Benz, T. Tang, 1996, Blood.

Prevalent skipping of an individual exon accounts for shortened protein 4.1 Presles.

R. Rimokh, S. Hayette, J. Magaud, 1992, Blood.

Stop codon in exon 30 (E2069X) of β‐spectrin gene associated with hereditary elliptocytosis in spectrin Nagoya

Y. Yawata, P. Maillet, J. Delaunay, 1996, Human mutation.

Spectrin Jendouba: an alpha II/31 spectrin variant that is associated with elliptocytosis and carries a mutation distant from the dimer self-association site.

L. Denoroy, B. Forget, C. Féo, 1992, Blood.

Hemoglobin Pierre-Bénite [beta 90(F6)Glu----Asp], a new high affinity variant found in a French family.

J. Delaunay, A. Francina, F. Baklouti, 1988, Hemoglobin.

Hehemoglobin Pierre-Bénite [β90(F6)Glu→Asp], a new High Affinity Variant Found in a French Family

A. Francina, J. Delaunay, F. Baklouti, 1988 .

Homozygous hemoglobin Knossos (alpha 2 beta 227(B9) Ala----Ser): a new variety of beta (+)-thalassemia intermedia associated with delta (0)-thalassemia.

J. Delaunay, D. Peyramond, F. Baklouti, 1986, Blood.

Differential utilization of translation initiation sites in alternatively spliced mRNAs arising from the protein 4.1 gene.

E. Benz, T. Tang, F. Baklouti, 1992, Transactions of the Association of American Physicians.

Structure and function of hemoglobin variants at an internal hydrophobic site: consequences of mutations at the beta 27 (B9) position.

M. Perutz, J. Delaunay, J. Kister, 1990, Biochemistry.