Porcu S - Search Results

1

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.

Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, Bisceglia L, Zelante L, Nagaraja R, Porcu S, Ristaldi MS, Marzella R, Rocchi M, Nicolino M, Lienhardt-Roussie A, Nivelon A, Verloes A, Schlessinger D, Gasparini P, Bonneau D, Cao A, Pilia G. Crisponi L, et al. Among authors: porcu s. Nat Genet. 2001 Feb;27(2):159-66. doi: 10.1038/84781. Nat Genet. 2001. PMID: 11175783

2

A novel delta-thalassemia mutation A G-->C substitution at codon 30 of the delta-globin gene in a person of southern Italian origin.

Loudianos G, Murru S, Ristaldi MS, Cossu P, Pilia G, Porcu S, Sciarratta GV, Parodi MI, Cao A, Pirastu M. Loudianos G, et al. Among authors: porcu s. Hum Mutat. 1992;1(2):169-71. doi: 10.1002/humu.1380010215. Hum Mutat. 1992. PMID: 1301204 No abstract available.

3

A beta-thalassaemia phenotype not linked to the beta-globin cluster in an Italian family.

Murru S, Loudianos G, Porcu S, Sciarratta GV, Agosti S, Parodi MI, Cao A, Pirastu M. Murru S, et al. Among authors: porcu s. Br J Haematol. 1992 Jun;81(2):283-7. doi: 10.1111/j.1365-2141.1992.tb08221.x. Br J Haematol. 1992. PMID: 1643026

4

The C-T substitution in the distal CACCC box of the beta-globin gene promoter is a common cause of silent beta thalassaemia in the Italian population.

Ristaldi MS, Murru S, Loudianos G, Casula L, Porcu S, Pigheddu D, Fanni B, Sciarratta GV, Agosti S, Parodi MI, et al. Ristaldi MS, et al. Among authors: porcu s. Br J Haematol. 1990 Apr;74(4):480-6. doi: 10.1111/j.1365-2141.1990.tb06338.x. Br J Haematol. 1990. PMID: 2346726

5

A new delta-chain variant hemoglobin A2-Puglia or alpha 2 delta 2 26 Glu-->Asp (B8), detected by DNA analysis in a family of southern Italian origin.

Loudianos G, Porcu S, Cossu P, Tannoia N, Vitucci A, Campanale D, Cao A, Pirastu M. Loudianos G, et al. Among authors: porcu s. Hum Mutat. 1993;2(4):327-9. doi: 10.1002/humu.1380020417. Hum Mutat. 1993. PMID: 8401543 No abstract available.

6

Activation of the delta-globin gene by the beta-globin gene CACCC motif.

Ristaldi MS, Casula S, Porcu S, Marongiu MF, Pirastu M, Cao A. Ristaldi MS, et al. Among authors: porcu s. Blood Cells Mol Dis. 1999 Jun-Aug;25(3-4):193-209. doi: 10.1006/bcmd.1999.0245. Blood Cells Mol Dis. 1999. PMID: 10575545

7

Normal delta globin gene sequence in carrier of the silent-101 (C-T) beta-thalassemia mutation with normal HbA2 level.

Ristaldi MS, Casula S, Porcu S, Cao A. Ristaldi MS, et al. Among authors: porcu s. Am J Hematol. 2001 May;67(1):58. doi: 10.1002/ajh.1079. Am J Hematol. 2001. PMID: 11279661 Free article. No abstract available.

8

delta-Globin gene structure and expression in the K562 cell line.

Poddie D, Marongiu MF, Ferrari SC, Porcu S, Ristaldi MS. Poddie D, et al. Among authors: porcu s. Hemoglobin. 2003 Nov;27(4):219-28. doi: 10.1081/hem-120026046. Hemoglobin. 2003. PMID: 14649312

9

beta-Minor globin gene expression is preferentially reduced in EKLF Knock-Out mice.

Porcu S, Poddie D, Melis M, Cao A, Ristaldi MS. Porcu S, et al. Gene. 2005 May 23;351:11-7. doi: 10.1016/j.gene.2005.03.005. Epub 2005 Apr 19. Gene. 2005. PMID: 15847847

10

Regulation of the human HBA genes by KLF4 in erythroid cell lines.

Marini MG, Porcu L, Asunis I, Loi MG, Ristaldi MS, Porcu S, Ikuta T, Cao A, Moi P. Marini MG, et al. Among authors: porcu s, porcu l. Br J Haematol. 2010 Jun;149(5):748-58. doi: 10.1111/j.1365-2141.2010.08130.x. Epub 2010 Mar 15. Br J Haematol. 2010. PMID: 20331458 Free article.

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