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X-linked cataract and Nance-Horan syndrome are allelic disorders.
Coccia M, Brooks SP, Webb TR, Christodoulou K, Wozniak IO, Murday V, Balicki M, Yee HA, Wangensteen T, Riise R, Saggar AK, Park SM, Kanuga N, Francis PJ, Maher ER, Moore AT, Russell-Eggitt IM, Hardcastle AJ. Coccia M, et al. Hum Mol Genet. 2009 Jul 15;18(14):2643-55. doi: 10.1093/hmg/ddp206. Epub 2009 May 4. Hum Mol Genet. 2009. PMID: 19414485 Free PMC article.
CXN was found to be caused by novel copy number variations: a complex duplication-triplication re-arrangement and an intragenic deletion, predicted to result in altered transcriptional regulation of the NHS gene. ...
CXN was found to be caused by novel copy number variations: a complex duplication-triplication re-arrangement and an intragenic deletion, …
A Turkish family with Nance-Horan Syndrome due to a novel mutation.
Tug E, Dilek NF, Javadiyan S, Burdon KP, Percin FE. Tug E, et al. Gene. 2013 Aug 1;525(1):141-5. doi: 10.1016/j.gene.2013.03.094. Epub 2013 Apr 6. Gene. 2013. PMID: 23566852
We identified a previously unreported frameshift mutation (c.558insA) in exon 1 of the NHS gene in these patients and their mother which is predicted to result in the incorporation of 11 aberrant amino acids prior to a stop codon (p.E186Efs11X). ...
We identified a previously unreported frameshift mutation (c.558insA) in exon 1 of the NHS gene in these patients and their mother which is …
Identification of a novel NHS mutation in a Chinese family with Nance-Horan syndrome.
Li A, Li B, Wu L, Yang L, Chen N, Ma Z. Li A, et al. Curr Eye Res. 2015 Apr;40(4):434-8. doi: 10.3109/02713683.2014.959606. Epub 2014 Sep 30. Curr Eye Res. 2015. PMID: 25266737
RESULTS: A novel deletion in exon 4 (c.852delG) of NHS gene was identified; the identified 1 bp deletion altered the reading frame and was predicted to result in a premature stop codon after the addition of twelve novel amino acid (p.S285PfsX13). ...
RESULTS: A novel deletion in exon 4 (c.852delG) of NHS gene was identified; the identified 1 bp deletion altered the reading frame and was …
Exclusion of RAI2 as the causative gene for Nance-Horan syndrome.
Walpole SM, Ronce N, Grayson C, Dessay B, Yates JR, Trump D, Toutain A. Walpole SM, et al. Hum Genet. 1999 May;104(5):410-1. doi: 10.1007/s004390050976. Hum Genet. 1999. PMID: 10394933
We previously identified a human homologue of a mouse retinoic-acid-induced gene (RAI2) within the NHS critical flanking interval and have tested the gene as a candidate for Nance-Horan syndrome in nine NHS-affected families. Direct sequencing of the RAI2 gene and predicted …
We previously identified a human homologue of a mouse retinoic-acid-induced gene (RAI2) within the NHS critical flanking interval and have t …
Identification and characterization of human GUKH2 gene in silico.
Katoh M, Katoh M. Katoh M, et al. Int J Oncol. 2004 Apr;24(4):1033-8. Int J Oncol. 2004. PMID: 15010845
Because human homologs of Drosophila dlg (DLG1-DLG7) as well as human homologs of Drosophila scrib (SCRIB, ERBB2IP and Densin-180) are cancer-associated genes, human homologs of Drosophila gukh (GUKH1 and GUKH2) are predicted cancer-associated genes....
Because human homologs of Drosophila dlg (DLG1-DLG7) as well as human homologs of Drosophila scrib (SCRIB, ERBB2IP and Densin-180) are cance …