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Select item 102984081.

New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II

Melina Mara Musri, Veronica Venturi, Xènia Ferrer-Cortès, Lídia Romero-Cortadellas, Gonzalo Hernández, Pilar Leoz, María Pilar Ricard Andrés, Marta Morado, María del Carmen Fernández Valle, David Beneitez Pastor, Ana Ortuño Cabrero, Maite Moreno Gamiz, Leonor Senent Peris, Amanda Isabel Perez-Valencia, Santiago Pérez-Montero, Cristian Tornador, Mayka Sánchez

Int J Mol Sci. 2023 Jun; 24(12): 9935. Published online 2023 Jun 9. doi: 10.3390/ijms24129935

PMCID:: PMC10298408

Article PDF–4.6M

Select item 88358152.

SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells

Barbara Eleni Rosato, Roberta Marra, Vanessa D’Onofrio, Federica Del Giudice, Simone Della Monica, Achille Iolascon, Immacolata Andolfo, Roberta Russo

Int J Mol Sci. 2022 Feb; 23(3): 1304. Published online 2022 Jan 24. doi: 10.3390/ijms23031304

PMCID:: PMC8835815

Article PDF–2.3M

Select item 70521703.

Mutations in the coat complex II component SEC23B promote colorectal cancer metastasis

Chunyuan Yang, Nan Chen, Xiang Li, Dan Lu, Zhiyuan Hou, Yuhua Li, Yan Jin, Jin Gu, Yuxin Yin

Cell Death Dis. 2020 Mar; 11(3): 157. Published online 2020 Mar 2. doi: 10.1038/s41419-020-2358-7

PMCID:: PMC7052170

Article PDF–7.0M

Select item 32693694.

Congenital Dyserythropoietic Anemia Type II: molecular analysis and expression of the SEC23B Gene

Francesca Punzo, Aida M Bertoli-Avella, Saverio Scianguetta, Fulvio Della Ragione, Maddalena Casale, Luisa Ronzoni, Maria D Cappellini, Gianluca Forni, Ben A Oostra, Silverio Perrotta

Orphanet J Rare Dis. 2011; 6: 89. Published online 2011 Dec 30. doi: 10.1186/1750-1172-6-89

PMCID:: PMC3269369

Article PDF–579K

Select item 32585425.

Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population

Roberta Russo, Antonella Gambale, Maria Rosaria Esposito, Maria Luisa Serra, Annaelena Troiano, Ilaria De Maggio, Mario Capasso, Lucio Luzzatto, Jean Delaunay, Hannah Tamary, Achille Iolascon

Am J Hematol. 2011 Sep; 86(9): 727–732. Published online 2011 Jun 14. doi: 10.1002/ajh.22096

PMCID:: PMC3258542

Article PDF–359K

Select item 30150656.

Mutational spectrum in congenital dyserythropoietic anemia type II: Identification of 19 novel variants in SEC23B gene

Roberta Russo, Maria Rosaria Esposito, Roberta Asci, Antonella Gambale, Silverio Perrotta, Ugo Ramenghi, Gian Luca Forni, Vedat Uygun, Jean Delaunay, Achille Iolascon

Am J Hematol. 2010 Dec; 85(12): 915–920. doi: 10.1002/ajh.21866

PMCID:: PMC3015065

Article PDF–1.3M

Select item 28643757.

Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship

Achille Iolascon, Roberta Russo, Maria Rosaria Esposito, Roberta Asci, Carmelo Piscopo, Silverio Perrotta, Madeleine Fénéant-Thibault, Loïc Garçon, Jean Delaunay

Haematologica. 2010 May; 95(5): 708–715. Published online 2009 Dec 16. doi: 10.3324/haematol.2009.014985

PMCID:: PMC2864375

Article PDF–687K

Select item 17160288.

Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search.

P Gasparini, E Miraglia del Giudice, J Delaunay, A Totaro, M Granatiero, S Melchionda, L Zelante, A Iolascon

Am J Hum Genet. 1997 Nov; 61(5): 1112–1116. doi: 10.1086/301609

PMCID:: PMC1716028

Summary Page Browse PDF–775K

Select item 87605249.

A common human missense mutation of vesicle coat protein SEC23B leads to growth restriction and chronic pancreatitis in mice

Wei Wei, Zhigang Liu, Chao Zhang, Rami Khoriaty, Min Zhu, Bin Zhang

J Biol Chem. 2022 Jan; 298(1): 101536. Published online 2021 Dec 24. doi: 10.1016/j.jbc.2021.101536

PMCID:: PMC8760524

Article PDF–6.9M

Select item 798550210.

Non-canonical role of wild-type SEC23B in the cellular stress response pathway

Lamis Yehia, Darren Liu, Shuai Fu, Pranav Iyer, Charis Eng

Cell Death Dis. 2021 Apr; 12(4): 304. Published online 2021 Mar 22. doi: 10.1038/s41419-021-03589-9

PMCID:: PMC7985502

Article PDF–1.6M

Select item 612118711.

Non-canonical role of cancer-associated mutant SEC23B in the ribosome biogenesis pathway

Lamis Yehia, Supriya Jindal, Anton A Komar, Charis Eng

Hum Mol Genet. 2018 Sep 15; 27(18): 3154–3164. Published online 2018 Jun 8. doi: 10.1093/hmg/ddy226

PMCID:: PMC6121187

Article PDF–1.3M

Select item 568521812.

GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type II

Roberta Russo, Immacolata Andolfo, Antonella Gambale, Gianluca De Rosa, Francesco Manna, Alessandra Arillo, Farooq Wandroo, Maria Grazia Bisconte, Achille Iolascon

Haematologica. 2017 Sep; 102(9): e371–e374. doi: 10.3324/haematol.2016.162966

PMCID:: PMC5685218

Article PDF–394K

Select item 743221013.

RAP-011 Rescues the Disease Phenotype in a Cellular Model of Congenital Dyserythropoietic Anemia Type II by Inhibiting the SMAD2-3 Pathway

Gianluca De Rosa, Immacolata Andolfo, Roberta Marra, Francesco Manna, Barbara Eleni Rosato, Achille Iolascon, Roberta Russo

Int J Mol Sci. 2020 Aug; 21(15): 5577. Published online 2020 Aug 4. doi: 10.3390/ijms21155577

PMCID:: PMC7432210

Article PDF–1.6M

Select item 466713214.

Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer

Lamis Yehia, Farshad Niazi, Ying Ni, Joanne Ngeow, Madhav Sankunny, Zhigang Liu, Wei Wei, Jessica L. Mester, Ruth A. Keri, Bin Zhang, Charis Eng

Am J Hum Genet. 2015 Nov 5; 97(5): 661–676. Published online 2015 Oct 29. doi: 10.1016/j.ajhg.2015.10.001

PMCID:: PMC4667132

Article PDF–1.3M

Select item 501877715.

TANGO1/cTAGE5 receptor as a polyvalent template for assembly of large COPII coats

Wenfu Ma, Jonathan Goldberg

Proc Natl Acad Sci U S A. 2016 Sep 6; 113(36): 10061–10066. Published online 2016 Aug 22. doi: 10.1073/pnas.1605916113

PMCID:: PMC5018777

Article PDF–1.4M

Select item 377791116.

ALG-2 Attenuates COPII Budding In Vitro and Stabilizes the Sec23/Sec31A Complex

Jonas M. la Cour, Adam J. Schindler, Martin W. Berchtold, Randy Schekman

PLoS One. 2013; 8(9): e75309. Published online 2013 Sep 19. doi: 10.1371/journal.pone.0075309

PMCID:: PMC3777911

Article PDF–712K

Select item 27600417.

Cloning and functional characterization of mammalian homologues of the COPII component Sec23.

J P Paccaud, W Reith, J L Carpentier, M Ravazzola, M Amherdt, R Schekman, L Orci

Mol Biol Cell. 1996 Oct; 7(10): 1535–1546. doi: 10.1091/mbc.7.10.1535

PMCID:: PMC276004

Summary Page Browse PDF–3.7M

Select item 609984918.

Functions of the COPII gene paralogs SEC23A and SEC23B are interchangeable in vivo

Rami Khoriaty, Geoffrey G. Hesketh, Amélie Bernard, Angela C. Weyand, Dattatreya Mellacheruvu, Guojing Zhu, Mark J. Hoenerhoff, Beth McGee, Lesley Everett, Elizabeth J. Adams, Bin Zhang, Thomas L. Saunders, Alexey I. Nesvizhskii, Daniel J. Klionsky, Jordan A. Shavit, Anne-Claude Gingras, David Ginsburg

Proc Natl Acad Sci U S A. 2018 Aug 14; 115(33): E7748–E7757. Published online 2018 Jul 31. doi: 10.1073/pnas.1805784115