Publication

Absence of cell-surface EpCAM in congenital tufting enteropathy

Schnell, U., Kuipers, J., Mueller, J. L., Veenstra-Algra, A., Sivagnanam, M. & Giepmans, B. N. G., 1-Jul-2013, In : Human Molecular Genetics. 22, 13, p. 2566-2571 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

APA

Schnell, U., Kuipers, J., Mueller, J. L., Veenstra-Algra, A., Sivagnanam, M., & Giepmans, B. N. G. (2013). Absence of cell-surface EpCAM in congenital tufting enteropathy. Human Molecular Genetics, 22(13), 2566-2571. https://doi.org/10.1093/hmg/ddt105

Author

Schnell, Ulrike ; Kuipers, Jeroen ; Mueller, James L. ; Veenstra-Algra, Anneke ; Sivagnanam, Mamata ; Giepmans, Ben N. G. / Absence of cell-surface EpCAM in congenital tufting enteropathy. In: Human Molecular Genetics. 2013 ; Vol. 22, No. 13. pp. 2566-2571.

Harvard

Schnell, U, Kuipers, J, Mueller, JL, Veenstra-Algra, A, Sivagnanam, M & Giepmans, BNG 2013, 'Absence of cell-surface EpCAM in congenital tufting enteropathy', Human Molecular Genetics, vol. 22, no. 13, pp. 2566-2571. https://doi.org/10.1093/hmg/ddt105

Standard

Absence of cell-surface EpCAM in congenital tufting enteropathy. / Schnell, Ulrike; Kuipers, Jeroen; Mueller, James L.; Veenstra-Algra, Anneke; Sivagnanam, Mamata; Giepmans, Ben N. G.

In: Human Molecular Genetics, Vol. 22, No. 13, 01.07.2013, p. 2566-2571.

Research output: Contribution to journalArticleAcademicpeer-review

Vancouver

Schnell U, Kuipers J, Mueller JL, Veenstra-Algra A, Sivagnanam M, Giepmans BNG. Absence of cell-surface EpCAM in congenital tufting enteropathy. Human Molecular Genetics. 2013 Jul 1;22(13):2566-2571. https://doi.org/10.1093/hmg/ddt105


BibTeX

@article{76dcea7e1ec94cb78d38329c34e7c691,
title = "Absence of cell-surface EpCAM in congenital tufting enteropathy",
abstract = "Mutations in the epithelial cell adhesion molecule (EpCAM; CD326) gene are causal for congenital tufting enteropathy (CTE), a disease characterized by intestinal abnormalities resulting in lethal diarrhea in newborns. Why the different mutations all lead to the same disease is not clear. Here, we report that most mutations, including a novel intronic variant, will result in lack of EpCAMs transmembrane domain, whereas two mutations allow transmembrane localization. We find that these mutants are not routed to the plasma membrane, and that truncated mutants are secreted or degraded. Thus, all epcam mutations lead to loss of cell-surface EpCAM, resulting in CTE.",
keywords = "ANTIGEN EP-CAM, GENE, IDENTIFICATION, PROGRESSION, CLAUDIN-7, ADHESION, MUTATION, MARKER, CANCER, KSA",
author = "Ulrike Schnell and Jeroen Kuipers and Mueller, {James L.} and Anneke Veenstra-Algra and Mamata Sivagnanam and Giepmans, {Ben N. G.}",
year = "2013",
month = "7",
day = "1",
doi = "10.1093/hmg/ddt105",
language = "English",
volume = "22",
pages = "2566--2571",
journal = "Human Molecular Genetics",
issn = "0964-6906",
publisher = "Oxford University Press",
number = "13",

}

RIS

TY - JOUR

T1 - Absence of cell-surface EpCAM in congenital tufting enteropathy

AU - Schnell, Ulrike

AU - Kuipers, Jeroen

AU - Mueller, James L.

AU - Veenstra-Algra, Anneke

AU - Sivagnanam, Mamata

AU - Giepmans, Ben N. G.

PY - 2013/7/1

Y1 - 2013/7/1

N2 - Mutations in the epithelial cell adhesion molecule (EpCAM; CD326) gene are causal for congenital tufting enteropathy (CTE), a disease characterized by intestinal abnormalities resulting in lethal diarrhea in newborns. Why the different mutations all lead to the same disease is not clear. Here, we report that most mutations, including a novel intronic variant, will result in lack of EpCAMs transmembrane domain, whereas two mutations allow transmembrane localization. We find that these mutants are not routed to the plasma membrane, and that truncated mutants are secreted or degraded. Thus, all epcam mutations lead to loss of cell-surface EpCAM, resulting in CTE.

AB - Mutations in the epithelial cell adhesion molecule (EpCAM; CD326) gene are causal for congenital tufting enteropathy (CTE), a disease characterized by intestinal abnormalities resulting in lethal diarrhea in newborns. Why the different mutations all lead to the same disease is not clear. Here, we report that most mutations, including a novel intronic variant, will result in lack of EpCAMs transmembrane domain, whereas two mutations allow transmembrane localization. We find that these mutants are not routed to the plasma membrane, and that truncated mutants are secreted or degraded. Thus, all epcam mutations lead to loss of cell-surface EpCAM, resulting in CTE.

KW - ANTIGEN EP-CAM

KW - GENE

KW - IDENTIFICATION

KW - PROGRESSION

KW - CLAUDIN-7

KW - ADHESION

KW - MUTATION

KW - MARKER

KW - CANCER

KW - KSA

U2 - 10.1093/hmg/ddt105

DO - 10.1093/hmg/ddt105

M3 - Article

VL - 22

SP - 2566

EP - 2571

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

IS - 13

ER -

ID: 5884020