Eintrag weiter verarbeiten
A Novel Nonsense Mutation in the EpCAM Gene in a Patient With Congenital Tufting Enteropathy
Gespeichert in:
| Zeitschriftentitel: | Journal of Pediatric Gastroenterology and Nutrition |
|---|---|
| Personen und Körperschaften: | , , , , , , , |
| In: | Journal of Pediatric Gastroenterology and Nutrition, 58, 2014, 1, S. 18-21 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Wiley
|
| Schlagwörter: |
| author_facet |
Thoeni, Cornelia Amir, Achiya Guo, Conghui Zhang, S. Avitzur, Yaron Heng, Y.M. Cutz, Ernest Muise, Aleixo M. Thoeni, Cornelia Amir, Achiya Guo, Conghui Zhang, S. Avitzur, Yaron Heng, Y.M. Cutz, Ernest Muise, Aleixo M. |
|---|---|
| author |
Thoeni, Cornelia Amir, Achiya Guo, Conghui Zhang, S. Avitzur, Yaron Heng, Y.M. Cutz, Ernest Muise, Aleixo M. |
| spellingShingle |
Thoeni, Cornelia Amir, Achiya Guo, Conghui Zhang, S. Avitzur, Yaron Heng, Y.M. Cutz, Ernest Muise, Aleixo M. Journal of Pediatric Gastroenterology and Nutrition A Novel Nonsense Mutation in the EpCAM Gene in a Patient With Congenital Tufting Enteropathy Gastroenterology Pediatrics, Perinatology and Child Health |
| author_sort |
thoeni, cornelia |
| spelling |
Thoeni, Cornelia Amir, Achiya Guo, Conghui Zhang, S. Avitzur, Yaron Heng, Y.M. Cutz, Ernest Muise, Aleixo M. 0277-2116 1536-4801 Wiley Gastroenterology Pediatrics, Perinatology and Child Health http://dx.doi.org/10.1097/mpg.0000000000000106 <jats:title>ABSTRACT</jats:title><jats:sec><jats:title>Objectives:</jats:title><jats:p>Tufting enteropathy (TE) is a classical congenital disorder of the intestinal mucosa causing protracted diarrhea in infancy as a result of a dysfunctional epithelial cell barrier, which is mainly caused by mutations in the <jats:italic>EpCAM</jats:italic> gene and expression of a nonfunctional epithelial cell adhesion molecule in the intestine. We report here a novel nonsense mutation in a patient suspected of having TE, resulting in a complete absence of <jats:italic>EpCAM</jats:italic> in duodenal enterocytes.</jats:p></jats:sec><jats:sec><jats:title>Methods:</jats:title><jats:p>A patient presenting with congenital diarrhea and suspected of having TE was screened for <jats:italic>EpCAM</jats:italic> mutations, and duodenal biopsies were stained for <jats:italic>EpCAM</jats:italic> using immunohistochemistry analysis.</jats:p></jats:sec><jats:sec><jats:title>Results:</jats:title><jats:p>We identified a novel homozygous nonsense mutation in the <jats:italic>EpCAM</jats:italic> gene in a patient suspected of having TE, causing a complete loss of <jats:italic>EpCAM</jats:italic> expression in duodenal enterocytes.</jats:p></jats:sec><jats:sec><jats:title>Conclusions:</jats:title><jats:p>With screening analysis for <jats:italic>EpCAM</jats:italic> mutations and immunohistochemistry for <jats:italic>EpCAM</jats:italic> expression in duodenal enterocytes, we found a novel homozygous mutation in a patient with classical protracted diarrhea in infancy finally diagnosed as TE, which results in a complete absence of <jats:italic>EpCAM</jats:italic> and in dysfunctional barrier formation in duodenal enterocytes.</jats:p></jats:sec> A Novel Nonsense Mutation in the <i>EpCAM</i> Gene in a Patient With Congenital Tufting Enteropathy Journal of Pediatric Gastroenterology and Nutrition |
| doi_str_mv |
10.1097/mpg.0000000000000106 |
| facet_avail |
Online Free |
| finc_class_facet |
Medizin |
| format |
ElectronicArticle |
| fullrecord |
blob:ai-49-aHR0cDovL2R4LmRvaS5vcmcvMTAuMTA5Ny9tcGcuMDAwMDAwMDAwMDAwMDEwNg |
| id |
ai-49-aHR0cDovL2R4LmRvaS5vcmcvMTAuMTA5Ny9tcGcuMDAwMDAwMDAwMDAwMDEwNg |
| institution |
DE-Gla1 DE-Zi4 DE-15 DE-Pl11 DE-Rs1 DE-105 DE-14 DE-Ch1 DE-L229 DE-D275 DE-Bn3 DE-Brt1 DE-Zwi2 DE-D161 |
| imprint |
Wiley, 2014 |
| imprint_str_mv |
Wiley, 2014 |
| issn |
0277-2116 1536-4801 |
| issn_str_mv |
0277-2116 1536-4801 |
| language |
English |
| mega_collection |
Wiley (CrossRef) |
| match_str |
thoeni2014anovelnonsensemutationintheepcamgeneinapatientwithcongenitaltuftingenteropathy |
| publishDateSort |
2014 |
| publisher |
Wiley |
| recordtype |
ai |
| record_format |
ai |
| series |
Journal of Pediatric Gastroenterology and Nutrition |
| source_id |
49 |
| title |
A Novel Nonsense Mutation in the EpCAM Gene in a Patient With Congenital Tufting Enteropathy |
| title_unstemmed |
A Novel Nonsense Mutation in the EpCAM Gene in a Patient With Congenital Tufting Enteropathy |
| title_full |
A Novel Nonsense Mutation in the EpCAM Gene in a Patient With Congenital Tufting Enteropathy |
| title_fullStr |
A Novel Nonsense Mutation in the EpCAM Gene in a Patient With Congenital Tufting Enteropathy |
| title_full_unstemmed |
A Novel Nonsense Mutation in the EpCAM Gene in a Patient With Congenital Tufting Enteropathy |
| title_short |
A Novel Nonsense Mutation in the EpCAM Gene in a Patient With Congenital Tufting Enteropathy |
| title_sort |
a novel nonsense mutation in the <i>epcam</i> gene in a patient with congenital tufting enteropathy |
| topic |
Gastroenterology Pediatrics, Perinatology and Child Health |
| url |
http://dx.doi.org/10.1097/mpg.0000000000000106 |
| publishDate |
2014 |
| physical |
18-21 |
| description |
<jats:title>ABSTRACT</jats:title><jats:sec><jats:title>Objectives:</jats:title><jats:p>Tufting enteropathy (TE) is a classical congenital disorder of the intestinal mucosa causing protracted diarrhea in infancy as a result of a dysfunctional epithelial cell barrier, which is mainly caused by mutations in the <jats:italic>EpCAM</jats:italic> gene and expression of a nonfunctional epithelial cell adhesion molecule in the intestine. We report here a novel nonsense mutation in a patient suspected of having TE, resulting in a complete absence of <jats:italic>EpCAM</jats:italic> in duodenal enterocytes.</jats:p></jats:sec><jats:sec><jats:title>Methods:</jats:title><jats:p>A patient presenting with congenital diarrhea and suspected of having TE was screened for <jats:italic>EpCAM</jats:italic> mutations, and duodenal biopsies were stained for <jats:italic>EpCAM</jats:italic> using immunohistochemistry analysis.</jats:p></jats:sec><jats:sec><jats:title>Results:</jats:title><jats:p>We identified a novel homozygous nonsense mutation in the <jats:italic>EpCAM</jats:italic> gene in a patient suspected of having TE, causing a complete loss of <jats:italic>EpCAM</jats:italic> expression in duodenal enterocytes.</jats:p></jats:sec><jats:sec><jats:title>Conclusions:</jats:title><jats:p>With screening analysis for <jats:italic>EpCAM</jats:italic> mutations and immunohistochemistry for <jats:italic>EpCAM</jats:italic> expression in duodenal enterocytes, we found a novel homozygous mutation in a patient with classical protracted diarrhea in infancy finally diagnosed as TE, which results in a complete absence of <jats:italic>EpCAM</jats:italic> and in dysfunctional barrier formation in duodenal enterocytes.</jats:p></jats:sec> |
| container_issue |
1 |
| container_start_page |
18 |
| container_title |
Journal of Pediatric Gastroenterology and Nutrition |
| container_volume |
58 |
| format_de105 |
Article, E-Article |
| format_de14 |
Article, E-Article |
| format_de15 |
Article, E-Article |
| format_de520 |
Article, E-Article |
| format_de540 |
Article, E-Article |
| format_dech1 |
Article, E-Article |
| format_ded117 |
Article, E-Article |
| format_degla1 |
E-Article |
| format_del152 |
Buch |
| format_del189 |
Article, E-Article |
| format_dezi4 |
Article |
| format_dezwi2 |
Article, E-Article |
| format_finc |
Article, E-Article |
| format_nrw |
Article, E-Article |
| _version_ |
1792343922122424322 |
| geogr_code |
not assigned |
| last_indexed |
2024-03-01T16:59:24.486Z |
| geogr_code_person |
not assigned |
| openURL |
url_ver=Z39.88-2004&ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fvufind.svn.sourceforge.net%3Agenerator&rft.title=A+Novel+Nonsense+Mutation+in+the+EpCAM+Gene+in+a+Patient+With+Congenital+Tufting+Enteropathy&rft.date=2014-01-01&genre=article&issn=1536-4801&volume=58&issue=1&spage=18&epage=21&pages=18-21&jtitle=Journal+of+Pediatric+Gastroenterology+and+Nutrition&atitle=A+Novel+Nonsense+Mutation+in+the+%3Ci%3EEpCAM%3C%2Fi%3E+Gene+in+a+Patient+With+Congenital+Tufting+Enteropathy&aulast=Muise&aufirst=Aleixo+M.&rft_id=info%3Adoi%2F10.1097%2Fmpg.0000000000000106&rft.language%5B0%5D=eng |
| SOLR | |
| _version_ | 1792343922122424322 |
| author | Thoeni, Cornelia, Amir, Achiya, Guo, Conghui, Zhang, S., Avitzur, Yaron, Heng, Y.M., Cutz, Ernest, Muise, Aleixo M. |
| author_facet | Thoeni, Cornelia, Amir, Achiya, Guo, Conghui, Zhang, S., Avitzur, Yaron, Heng, Y.M., Cutz, Ernest, Muise, Aleixo M., Thoeni, Cornelia, Amir, Achiya, Guo, Conghui, Zhang, S., Avitzur, Yaron, Heng, Y.M., Cutz, Ernest, Muise, Aleixo M. |
| author_sort | thoeni, cornelia |
| container_issue | 1 |
| container_start_page | 18 |
| container_title | Journal of Pediatric Gastroenterology and Nutrition |
| container_volume | 58 |
| description | <jats:title>ABSTRACT</jats:title><jats:sec><jats:title>Objectives:</jats:title><jats:p>Tufting enteropathy (TE) is a classical congenital disorder of the intestinal mucosa causing protracted diarrhea in infancy as a result of a dysfunctional epithelial cell barrier, which is mainly caused by mutations in the <jats:italic>EpCAM</jats:italic> gene and expression of a nonfunctional epithelial cell adhesion molecule in the intestine. We report here a novel nonsense mutation in a patient suspected of having TE, resulting in a complete absence of <jats:italic>EpCAM</jats:italic> in duodenal enterocytes.</jats:p></jats:sec><jats:sec><jats:title>Methods:</jats:title><jats:p>A patient presenting with congenital diarrhea and suspected of having TE was screened for <jats:italic>EpCAM</jats:italic> mutations, and duodenal biopsies were stained for <jats:italic>EpCAM</jats:italic> using immunohistochemistry analysis.</jats:p></jats:sec><jats:sec><jats:title>Results:</jats:title><jats:p>We identified a novel homozygous nonsense mutation in the <jats:italic>EpCAM</jats:italic> gene in a patient suspected of having TE, causing a complete loss of <jats:italic>EpCAM</jats:italic> expression in duodenal enterocytes.</jats:p></jats:sec><jats:sec><jats:title>Conclusions:</jats:title><jats:p>With screening analysis for <jats:italic>EpCAM</jats:italic> mutations and immunohistochemistry for <jats:italic>EpCAM</jats:italic> expression in duodenal enterocytes, we found a novel homozygous mutation in a patient with classical protracted diarrhea in infancy finally diagnosed as TE, which results in a complete absence of <jats:italic>EpCAM</jats:italic> and in dysfunctional barrier formation in duodenal enterocytes.</jats:p></jats:sec> |
| doi_str_mv | 10.1097/mpg.0000000000000106 |
| facet_avail | Online, Free |
| finc_class_facet | Medizin |
| format | ElectronicArticle |
| format_de105 | Article, E-Article |
| format_de14 | Article, E-Article |
| format_de15 | Article, E-Article |
| format_de520 | Article, E-Article |
| format_de540 | Article, E-Article |
| format_dech1 | Article, E-Article |
| format_ded117 | Article, E-Article |
| format_degla1 | E-Article |
| format_del152 | Buch |
| format_del189 | Article, E-Article |
| format_dezi4 | Article |
| format_dezwi2 | Article, E-Article |
| format_finc | Article, E-Article |
| format_nrw | Article, E-Article |
| geogr_code | not assigned |
| geogr_code_person | not assigned |
| id | ai-49-aHR0cDovL2R4LmRvaS5vcmcvMTAuMTA5Ny9tcGcuMDAwMDAwMDAwMDAwMDEwNg |
| imprint | Wiley, 2014 |
| imprint_str_mv | Wiley, 2014 |
| institution | DE-Gla1, DE-Zi4, DE-15, DE-Pl11, DE-Rs1, DE-105, DE-14, DE-Ch1, DE-L229, DE-D275, DE-Bn3, DE-Brt1, DE-Zwi2, DE-D161 |
| issn | 0277-2116, 1536-4801 |
| issn_str_mv | 0277-2116, 1536-4801 |
| language | English |
| last_indexed | 2024-03-01T16:59:24.486Z |
| match_str | thoeni2014anovelnonsensemutationintheepcamgeneinapatientwithcongenitaltuftingenteropathy |
| mega_collection | Wiley (CrossRef) |
| physical | 18-21 |
| publishDate | 2014 |
| publishDateSort | 2014 |
| publisher | Wiley |
| record_format | ai |
| recordtype | ai |
| series | Journal of Pediatric Gastroenterology and Nutrition |
| source_id | 49 |
| spelling | Thoeni, Cornelia Amir, Achiya Guo, Conghui Zhang, S. Avitzur, Yaron Heng, Y.M. Cutz, Ernest Muise, Aleixo M. 0277-2116 1536-4801 Wiley Gastroenterology Pediatrics, Perinatology and Child Health http://dx.doi.org/10.1097/mpg.0000000000000106 <jats:title>ABSTRACT</jats:title><jats:sec><jats:title>Objectives:</jats:title><jats:p>Tufting enteropathy (TE) is a classical congenital disorder of the intestinal mucosa causing protracted diarrhea in infancy as a result of a dysfunctional epithelial cell barrier, which is mainly caused by mutations in the <jats:italic>EpCAM</jats:italic> gene and expression of a nonfunctional epithelial cell adhesion molecule in the intestine. We report here a novel nonsense mutation in a patient suspected of having TE, resulting in a complete absence of <jats:italic>EpCAM</jats:italic> in duodenal enterocytes.</jats:p></jats:sec><jats:sec><jats:title>Methods:</jats:title><jats:p>A patient presenting with congenital diarrhea and suspected of having TE was screened for <jats:italic>EpCAM</jats:italic> mutations, and duodenal biopsies were stained for <jats:italic>EpCAM</jats:italic> using immunohistochemistry analysis.</jats:p></jats:sec><jats:sec><jats:title>Results:</jats:title><jats:p>We identified a novel homozygous nonsense mutation in the <jats:italic>EpCAM</jats:italic> gene in a patient suspected of having TE, causing a complete loss of <jats:italic>EpCAM</jats:italic> expression in duodenal enterocytes.</jats:p></jats:sec><jats:sec><jats:title>Conclusions:</jats:title><jats:p>With screening analysis for <jats:italic>EpCAM</jats:italic> mutations and immunohistochemistry for <jats:italic>EpCAM</jats:italic> expression in duodenal enterocytes, we found a novel homozygous mutation in a patient with classical protracted diarrhea in infancy finally diagnosed as TE, which results in a complete absence of <jats:italic>EpCAM</jats:italic> and in dysfunctional barrier formation in duodenal enterocytes.</jats:p></jats:sec> A Novel Nonsense Mutation in the <i>EpCAM</i> Gene in a Patient With Congenital Tufting Enteropathy Journal of Pediatric Gastroenterology and Nutrition |
| spellingShingle | Thoeni, Cornelia, Amir, Achiya, Guo, Conghui, Zhang, S., Avitzur, Yaron, Heng, Y.M., Cutz, Ernest, Muise, Aleixo M., Journal of Pediatric Gastroenterology and Nutrition, A Novel Nonsense Mutation in the EpCAM Gene in a Patient With Congenital Tufting Enteropathy, Gastroenterology, Pediatrics, Perinatology and Child Health |
| title | A Novel Nonsense Mutation in the EpCAM Gene in a Patient With Congenital Tufting Enteropathy |
| title_full | A Novel Nonsense Mutation in the EpCAM Gene in a Patient With Congenital Tufting Enteropathy |
| title_fullStr | A Novel Nonsense Mutation in the EpCAM Gene in a Patient With Congenital Tufting Enteropathy |
| title_full_unstemmed | A Novel Nonsense Mutation in the EpCAM Gene in a Patient With Congenital Tufting Enteropathy |
| title_short | A Novel Nonsense Mutation in the EpCAM Gene in a Patient With Congenital Tufting Enteropathy |
| title_sort | a novel nonsense mutation in the <i>epcam</i> gene in a patient with congenital tufting enteropathy |
| title_unstemmed | A Novel Nonsense Mutation in the EpCAM Gene in a Patient With Congenital Tufting Enteropathy |
| topic | Gastroenterology, Pediatrics, Perinatology and Child Health |
| url | http://dx.doi.org/10.1097/mpg.0000000000000106 |