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Article

Xcat, a novel mouse model for Nance-Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform.

Human molecular genetics - 15 Jan 2006

Huang Kristen M, Wu Junhua, Duncan Melinda K, Moy Chris, Dutra Amalia, Favor Jack, Da Tong, Stambolian Dwight

Abstract excerpt

Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features and mental retardation. A recent report suggests that the novel gene NHS1 is involved in this disorder due to the presence of point mutations in NHS patients. A possible mouse model for NHS, Xcat, was mapped to a 2.11 Mb interval on the X-chromosome. Sequence and FISH analysis of the...

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Source

Identifiers

PMID: 16357105
DOI: 10.1093/hmg/ddi449

Genes

NHS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Xcat, a novel mouse model for Nance-Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform.PMID 16357105Read ↗

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.Semantic proximity Read ↗

Identification of the gene for Nance-Horan syndrome (NHS).Semantic proximity Read ↗

Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform.Semantic proximity Read ↗

A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.Semantic proximity Read ↗

Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing.Semantic proximity Read ↗

Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?Semantic proximity Read ↗

Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS).Semantic proximity Read ↗

Identification of three novel NHS mutations in families with Nance-Horan syndrome.Semantic proximity Read ↗

New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands.Semantic proximity Read ↗

Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families.Semantic proximity Read ↗

A Novel Frameshift Mutation in The NHS Gene Causes Nance-Horan Syndrome in a Chinese FamilySemantic proximity Read ↗

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