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Aniridia as a clue for the diagnosis of Gillespie syndrome.
Arq Neuropsiquiatr
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Universidade Federal de São Paulo, Departamento de Neurologia, Unidade de Ataxia, São Paulo SP, Brazil.
The kidney, cancer, and the eye: current concepts.
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The New York Eye Cancer Center, and the New York University School of Medicine, New York, NY 10021, USA.
Article Synopsis
- - The article explores the connections between kidney tumors, particularly renal cancers, and various eye conditions, emphasizing that renal cancers can spread to the eye, necessitating careful detection.
- - It highlights how kidney-related tumors like Wilms tumor can present ocular symptoms, such as aniridia, serving as important diagnostic indicators, and discusses various syndromes linking kidney diseases to eye problems.
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Introduction to genetics in ophthalmology, value of family studies.
Jpn J Ophthalmol
May 2000
Department of Ophthalmology, Kagoshima University Faculty of Medicine, Kagoshima, Japan.
This paper reviews the author's personal experience with genetic eye diseases and discusses the significance of family studies in providing key information for the advancement of molecular research. Choroideremia: This disease has long been known as an X-linked progressive tapetoretinal degeneration, but it was first described in Japan in 1974 after finding asymptomatic fundus changes in heterozygous female carriers that are compatible with X chromosomal inactivation. Mutations in the disease-causing gene (REP-1) provide a clue to the diagnosis and pathophysiology of the disease.
View Article and Find Full Text PDFThe role of Wilms' tumor genes.
J Med Invest
August 1999
Division of Transfusion Medicine, University of Tokushima School of Medicine, Japan.
The constitutional chromosomal deletion within the short arm of one copy of chromosome 11, at band p13, which often correlated with WAGR syndrome consisting of Wilms' tumor with aniridia, genitourinary malformation, and mental retardation, provided the first clue to the genetic events in the development of Wilms' tumor. WT1 gene is encoded by 10 exons, resulting in messenger RNA subject to a complex pattern of alternative splicing. WT1 gene encodes a zinc finger transcription factor, which binds to GC-rich sequences and functions as a transcriptional activator or repressor for many growth factor genes.
View Article and Find Full Text PDF[Introduction to genetics in ophthalmology. Value of family studies].
Nippon Ganka Gakkai Zasshi
December 1999
Department of Ophthalmology, Kagoshima University Faculty of Medicine, Japan.
This paper reviews the author's personal experience with genetic eye diseases and discusses the significance of family studies in providing key information for the advancement of molecular research. CHOROIDEREMIA: This disease has long been known as an X-linked progressive tapetoretinal degeneration, but it was first described in Japan in 1974 after finding asymptomatic fundus changes in heterozygous female carriers that are compatible with X chromosomal inactivation. Mutations in the disease-causing gene (REP-1) provide a clue to the diagnosis and pathophysiology of the disease.
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