Potential Novel Mechanism for Axenfeld-Rieger Syndrome: Deletion of a Distant Region Containing Regulatory Elements ofPITX2 | Zendy

B. A. Volkmann | Zendy; Natalya S. Zinkevich | Zendy; Aki Mustonen | Zendy; Kala F. Schilter | Zendy; D.V. Bosenko | Zendy; Linda M. Reis | Zendy; Ulrich Broeckel | Zendy; Brian A. Link | Zendy; Elena V. Semina | Zendy

Open Access

Potential Novel Mechanism for Axenfeld-Rieger Syndrome: Deletion of a Distant Region Containing Regulatory Elements ofPITX2

Author(s) -

B. A. Volkmann,

Natalya S. Zinkevich,

Aki Mustonen,

Kala F. Schilter,

D.V. Bosenko,

Linda M. Reis,

Ulrich Broeckel,

Brian A. Link,

Elena V. Semina

Publication year - 2010

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.10-6060

Subject(s) - pitx2 , enhancer , biology , regulatory sequence , genetics , zebrafish , gene , craniofacial , regulation of gene expression , transcription factor , gene expression , homeobox

Mutations in PITX2 are associated with Axenfeld-Rieger syndrome (ARS), which involves ocular, dental, and umbilical abnormalities. Identification of cis-regulatory elements of PITX2 is important to better understand the mechanisms of disease.

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