Article

Loss of function mutation of mouse Snap29 on a mixed genetic background phenocopy abnormalities found in CEDNIK and 22q11.2 Deletion Syndrome patients

2019-02-24

Abstract excerpt

Synaptosomal-associated protein 29 ( SNAP29 ) is a member of the SNARE family of proteins involved in maintenance of various intracellular protein trafficking pathways. SNAP29 maps to the 22q11.2 region and is deleted in 90% of patients with 22q11.2 deletion syndrome (22q11.2DS). However, the contribution of hemizygosity of SNAP29 to developmental abnormalities in 22q11.2DS remains to be determined. Mutations i...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 3b7b8fb7-d983-5edd-b91b-a4d8226eadf8
DOI: 10.1101/559088

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Loss of function mutation of mouse Snap29 on a mixed genetic background phenocopy abnormalities found in CEDNIK and 22q11.2 Deletion Syndrome patientsDOI 10.1101/559088Read

Multiple functions of the SNARE protein Snap29 in autophagy, endocytic, and exocytic trafficking during epithelial formation inDrosophilaSemantic proximity Read

CEDNIK syndrome results from loss-of-function mutations in SNAP29.Semantic proximity Read

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.Semantic proximity Read

A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma.Semantic proximity Read

Generation and Characterization of a CRISPR/Cas9-Mediated SNAP29 Knockout in Human Fibroblasts.Semantic proximity Read

CEDNIK syndrome in a Brazilian patient with compound heterozygous pathogenic variants.Semantic proximity Read

Sox14 maps to mouse chromosome 9 and shows no mutations in the neurological mouse mutants ducky and tippy.Semantic proximity Read

SNAP-25 and gene-targeted mouse mutants.Semantic proximity Read

Deletion of SNAP-23 results in pre-implantation embryonic lethality in mice.Semantic proximity Read

Molecular Insights Into the Causes of Human Thymic Hypoplasia With Animal Models.Semantic proximity Read

Mouse Models of Polyglutamine Diseases: Review and Data Table. Part ISemantic proximity Read

Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephalySemantic proximity Read

Loss of function mutation of mouse <i>Snap29</i> on a mixed genetic background phenocopy abnormalities found in CEDNIK and 22q11.2 Deletion Syndrome patients

Abstract excerpt

Topics

Identifiers and source

Related research