Sptan1 hippo
Web1 Jun 2024 · SPTAN1-related DEE is radiologically characterized by cerebral atrophy, especially due to white matter volume reduction, hypomyelination, pontocerebellar hypoplasia, and a thin corpus callosum, however, no neurochemical analysis has been reported. Case report Web29 Jan 2015 · SPTAN1 gene is known as encoding the nonerythrocyte α-II-spectrin, a major component of the cytoskeleton expressed in all cells. 1 Clinical presentation of SPTAN1 variations includes epileptic ...
Sptan1 hippo
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WebPhenotype System Allele Zyg Sex Life Stage P Value; abnormal retina vasculature morphology : Sptan1 em1(IMPC)Mbp: HET : Early adult : 2.73×10-05: abnormal placenta … WebSptan1-205: 8018: 2478aa: ENSMUSP00000109348.3 . Gene/transcipt that contains an open reading frame (ORF). Protein coding. E9Q447: The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants). GENCODE basic,
WebCall Us 1 - 866 - 986 - 9598 [email protected] Sign Up. Login WebThe gene view histogram is a graphical view of mutations across SPTAN1. These mutations are displayed at the amino acid level across the full length of the gene by default. Restrict …
WebExpression of SPTAN1 in hippocampal formation tissue. Antibody staining with HPA007927 and CAB004581 in immunohistochemistry. WebSimilar mutations in SPTAN1 that encodes alpha II spectrin cause severe and usually lethal neurodevelopmental defects including one form of early infantile epileptic …
Web29 Jan 2015 · The major clinical features of SPTAN1 mutations include epileptic encephalopathy with hypsarrhythmia, no visual attention, acquired microcephaly, spastic …
WebThe Hippo pathway is an evolutionarily conserved developmental pathway that controls organ size by integrating diverse regulatory inputs, including actomyosin-mediated … acropolis grillWeb26 Sep 2024 · SPTAN1, the gene coding for the non-erythrocyte alpha-II spectrin, has been known as a rare cause of early-onset epileptic encephalopathies with hypomyelination … acropolis immoWeb23 Feb 2015 · To test whether the Spectrin cytoskeleton also regulates Hippo signalling in human cells, we silenced expression of the sole human non-erythrocyte alpha-Spectrin … acropolisisWeb31 Mar 2015 · Finally, we examined whether the spectrin may play a conserved role in regulating Hippo signaling in mammalian cells. The α spectrin subunit is encoded by two … acropolis importanceWeb9 Apr 2024 · Whole exome sequencing for both siblings showed monoallelic mutation at the SPTAN1 gene (alpha-spectrin), at nucleotide 6319, G>A, resulting in a predicted mutation … acropolis indore mcaWebSPTAN1 Gene. SPTAN1. HGNC Family. EF-hand domain containing. Name. spectrin, alpha, non-erythrocytic 1. Description. Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers ... acropolis iloiloWebSPTAN1 belongs to a superfamily of F-actin cross- linking proteins (scaffolding proteins) which, first identi- fied as membrane-skeleton components in erythrocytes, are ubiquitously expressed in metazoan cells [13]. acropolis indore logo