JCI - Citations to Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene.

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Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene.

N Dalla Venezia, … , E J Benz Jr, J Delaunay

N Dalla Venezia, … , E J Benz Jr, J Delaunay

Published November 1, 1992
Citation Information: J Clin Invest. 1992;90(5):1713-1717. https://doi.org/10.1172/JCI116044.

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Citations to this article (38)

Title and authors	Publication	Year
Cytoskeletal Protein 4.1R in Health and Diseases Liu J, Ding C, Liu X, Kang Q	Biomolecules	2024
遗传性椭圆形红细胞增多症患者临床及基因突变特征：9例报告及文献复习		2023
The protein 4.1R downregulates VEGFA in M2 macrophages to inhibit colon cancer metastasis Y Lu, D Fan, W Wang, X Gao, H Li, S Guo, L Zhao, Y Guo, B Li, Y Zhong, B Zhang, J Liu, L Dai, Q Kang, Z Ji	Experimental Cell Research	2021
Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia JN Lacy, JC Ulirsch, RF Grace, MC Towne, J Hale, N Mohandas, SE Lux, PB Agrawal, VG Sankaran	Molecular Case Studies	2016
Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis O Niss, S Chonat, N Dagaonkar, MO Almansoori, K Kerr, ZR Rogers, PT McGann, MO Quarmyne, M Risinger, K Zhang, TA Kalfa	Blood Cells, Molecules, and Diseases	2016
The application of histo-cytopathological biomarkers in the mud crab Scylla serrata (Forskal) to assess heavy metal toxicity in Pulicat Lake, Chennai LA Vasanthi, A Muruganandam, P Revathi, B Baskar, K Jayapriyan, R Baburajendran, N Munuswamy	Marine Pollution Bulletin	2014
ICln: A New Regulator of Non-Erythroid 4.1R Localisation and Function Claudia Bazzini, Lorena Benedetti, Davide Civello, Chiara Zanoni, Valeria Rossetti, Davide Marchesi, Maria Lisa Garavaglia, Markus Paulmichl, Maura Francolini, Giuliano Meyer, Simona Rodighiero	PloS one	2014
The Protein 4.1 family: Hub proteins in animals for organizing membrane proteins AJ Baines, HC Lu, PM Bennett	Biochimica et Biophysica Acta (BBA) - Biomembranes	2013
Homozygous deletion of EPB41 genuine AUG-containing exons results in mRNA splicing defects, NMD activation and protein 4.1R complete deficiency in hereditary elliptocytosis F Baklouti, M Morinière, A Haj-Khélil, M Fénéant-Thibault, H Gruffat, Y Couté, A Ninot, C Guitton, J Delaunay	Blood Cells, Molecules, and Diseases	2011
4.1R-deficient human red blood cells have altered phosphatidylserine exposure pathways and are deficient in CD44 and CD47 glycoproteins KP Jeremy, ZE Plummer, DJ Head, TE Madgett, KL Sanders, A Wallington, JR Storry, F Gilsanz, J Delaunay, ND Avent	Haematologica	2009
The molecular basis of hereditary red cell membrane disorders J Delaunay	Blood Reviews	2007
Principles of Molecular Medicine MS Runge, C Patterson		2006
Protein 4.1R expression in normal and dystrophic skeletal muscle F Delhommeau, ND Venezia, M Morinière, H Collin, P Maillet, I Guerfali, P Leclerc, M Fardeau, J Delaunay, F Baklouti	Comptes Rendus Biologies	2005
Hereditary elliptocytosis: spectrin and protein 4.1R PG Gallagher	Seminars in Hematology	2004
Red blood cell blood group antigens: structure and function ME Reid, N Mohandas	Seminars in Hematology	2004
Chromosomal anomalies in human gametes and pre-implantation embryos, and their potential effect on reproduction M Szczygiet, M Kurpisz	Andrologia	2001
Hereditary Red Cell Membrane Disorders in Japan: Their Genotypic and Phenotypic Features in 1014 Cases Studied Y Yawata, A Kanzaki, A Yawata, H Nakanishi, M Kaku	Hematology	2001
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 M Morinière, L Ribeiro, ND Venezia, M Deguillien, P Maillet, T Cynober, F Delhommeau, H Almeida, G Tamagnini, J Delaunay, F Baklouti	Blood	2000
Protein 4.1R–deficient mice are viable but have erythroid membrane skeleton abnormalities ZT Shi, V Afzal, B Coller, D Patel, JA Chasis, M Parra, G Lee, C Paszty, M Stevens, L Walensky, LL Peters, N Mohandas, E Rubin, JG Conboy	Journal of Clinical Investigation	1999
Red blood cell membrane disorders WT Tse, SE Lux	British Journal of Haematology	1999
Rhmod Syndrome: A Family Study of the Translation-Initiator Mutation in the Rh50 Glycoprotein Gene CH Huang, GJ Cheng, ME Reid, Y Chen	The American Journal of Human Genetics	1999
Rhmod syndrome: a family study of the translation-initiator mutation in the Rh50 glycoprotein gene C Huang, GJ Cheng, ME Reid, Y Chen	The American Journal of Human Genetics	1999
A premature termination codon within an alternative exon affecting only the metabolism of transcripts that retain this exon P Maillet, ND Venezia, F Lorenzo, M Morini�re, M Bozon, B No�l, J Delaunay, F Baklouti	Human Mutation	1999
Role of Actin-binding Protein in Insertion of Adhesion Receptors into the Membrane SC Meyer, DA Sanan, JE Fox	The Journal of biological chemistry	1998
A Large Deletion Within the Protein 4.1 Gene Associated With a Stable Truncated mRNA and an Unaltered Tissue-Specific Alternative Splicing ND Venezia, P Maillet, L Morlé, L Roda, J Delaunay, F Baklouti	Blood	1998
Role of tissue specific alternative pre-mRNA splicing in the differentiation of the erythrocyte membrane EJ Benz, SC Huang	Transactions of the American Clinical and Climatological Association	1997
A Markedly Disrupted Skeletal Network With Abnormally Distributed Intramembrane Particles in Complete Protein 4.1-Deficient Red Blood Cells (Allele 4.1 Madrid): Implications Regarding a Critical Role of Protein 4.1 in Maintenance of the Integrity of the Red Blood Cell Membrane A Yawata, A Kanzaki, F Gilsanz, J Delaunay, Y Yawata	Blood	1997
Chimeric probe-mediated ribonuclease protection assay for molecular diagnosis of mRNA deficiencies P Maillet, J Delaunay, F Baklouti	Human Mutation	1996
The Cytoskeleton: A Multi-Volume Treatise JE Barker	The Cytoskeleton: A Multi-Volume Treatise	1996
Genetic disorders of the red cell membrane J Delaunay	Critical Reviews in Oncology/Hematology	1995
Protein 4.1 Lille, a novel mutation in the downstream initiation codon of protein 4.1 gene associated with heterozygous 4,1(−) hereditary elliptocytosis M Garbarz, I Devaux, O Bournier, B Grandchamp, D Dhermy	Human Mutation	1995
Red cell membrane polypeptides under normal conditions and in genetic disorders J Delaunay	Transfusion Clinique et Biologique	1995
Genetic disorders of the red cell membranes J Delaunay	FEBS Letters	1995
C/T Polymorphism in the 5′ Untranslated Region of the Apolipoprotein(a) Gene Introduces an Upstream ATG and Reduces In Vitro Translation BR Zysow, GE Lindahl, DP Wade, BL Knight, RM Lawn	Arteriosclerosis, thrombosis, and vascular biology	1995
Molecular Basis of Human Blood Group Antigens JP Cartron, P Rouger		1995
Protein 4.1 deficiency associated with an altered binding to the spectrin-actin complex of the red cell membrane skeleton F Lorenzo, ND Venezia, L Morlé, F Baklouti, N Alloisio, MT Ducluzeau, L Roda, P Lefrançois, J Delaunay	Journal of Clinical Investigation	1994
Abnormal expression of protein 4.1 in spermatozoa of infertile men with teratospermia R Rousseaux-Prévost, J Rousseaux, P Lesur, F Collier, A Gauthier, JM Rigot, ND Venezia, J Delaunay, PS Pol	The Lancet	1994
Left Ventricular Hypertrophy WS Aronow	Journal of the American Geriatrics Society	1992

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