Absence of NR2E1 mutations in patients with aniridia

Ximena Corso-Díaz; Adrienne E Borrie; Russell Bonaguro; Johanna M Schuetz; Thomas Rosenberg; Hanne Jensen; Brian P Brooks; Ian M Macdonald; Francesca Pasutto; Michael A Walter; K Grønskov; Angela Brooks-Wilson; Elizabeth M Simpson

Absence of NR2E1 mutations in patients with aniridia

Ximena Corso-Díaz
, Adrienne E Borrie
, Russell Bonaguro
, Johanna M Schuetz
, Thomas Rosenberg
, Hanne Jensen
, Brian P Brooks
, Ian M Macdonald
, Francesca Pasutto
, Michael A Walter
, K Grønskov
, Angela Brooks-Wilson
, Elizabeth M Simpson

5 Citationer (Scopus)

Abstract

Nuclear receptor 2E1 (NR2E1) is a transcription factor with many roles during eye development and thus may be responsible for the occurrence of certain congenital eye disorders in humans. To test this hypothesis, we screened NR2E1 for candidate mutations in patients with aniridia and other congenital ocular malformations (anterior segment dysgenesis, congenital optic nerve malformation, and microphthalmia).

Originalsprog	Engelsk
Tidsskrift	Molecular Vision
Vol/bind	18
Sider (fra-til)	2770-82
Antal sider	13
ISSN	1090-0535
Status	Udgivet - 2012

Citationsformater

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title = "Absence of NR2E1 mutations in patients with aniridia",

abstract = "Nuclear receptor 2E1 (NR2E1) is a transcription factor with many roles during eye development and thus may be responsible for the occurrence of certain congenital eye disorders in humans. To test this hypothesis, we screened NR2E1 for candidate mutations in patients with aniridia and other congenital ocular malformations (anterior segment dysgenesis, congenital optic nerve malformation, and microphthalmia).",

author = "Ximena Corso-D{\'i}az and Borrie, \{Adrienne E\} and Russell Bonaguro and Schuetz, \{Johanna M\} and Thomas Rosenberg and Hanne Jensen and Brooks, \{Brian P\} and Macdonald, \{Ian M\} and Francesca Pasutto and Walter, \{Michael A\} and K Gr{\o}nskov and Angela Brooks-Wilson and Simpson, \{Elizabeth M\}",

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TY - JOUR

T1 - Absence of NR2E1 mutations in patients with aniridia

AU - Corso-Díaz, Ximena

AU - Borrie, Adrienne E

AU - Bonaguro, Russell

AU - Schuetz, Johanna M

AU - Rosenberg, Thomas

AU - Jensen, Hanne

AU - Brooks, Brian P

AU - Macdonald, Ian M

AU - Pasutto, Francesca

AU - Walter, Michael A

AU - Grønskov, K

AU - Brooks-Wilson, Angela

AU - Simpson, Elizabeth M

PY - 2012

Y1 - 2012

N2 - Nuclear receptor 2E1 (NR2E1) is a transcription factor with many roles during eye development and thus may be responsible for the occurrence of certain congenital eye disorders in humans. To test this hypothesis, we screened NR2E1 for candidate mutations in patients with aniridia and other congenital ocular malformations (anterior segment dysgenesis, congenital optic nerve malformation, and microphthalmia).

AB - Nuclear receptor 2E1 (NR2E1) is a transcription factor with many roles during eye development and thus may be responsible for the occurrence of certain congenital eye disorders in humans. To test this hypothesis, we screened NR2E1 for candidate mutations in patients with aniridia and other congenital ocular malformations (anterior segment dysgenesis, congenital optic nerve malformation, and microphthalmia).

M3 - Journal article

C2 - 23213277

SN - 1090-0535

VL - 18

SP - 2770

EP - 2782

JO - Molecular Vision

JF - Molecular Vision

ER -

Absence of NR2E1 mutations in patients with aniridia

Abstract

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Citationsformater