Sptbn4 disease

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August undefined, 2024

WebDescription: Contains 1 PH domain. (from UniProt C9JY79) RefSeq Summary (NM_020971): Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed … WebThere is a very high volume of traffic coming from your site (IP address 40.77.167.197) as of Wed Mar 29 05:42:20 2024 (California time). So that other users get a fair share of our bandwidth, we are putting in a delay of 10.1 seconds before we service your request.

Immune cell - SPTBN4 - The Human Protein Atlas

WebView mouse Sptbn4 Chr7:27055808-27147111 with: phenotypes, sequences, polymorphisms, proteins, references, function, expression WebHuman Disease . Associated With sptbn4 Human Ortholog . Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID; Neurodevelopmental disorder with hypotonia, neuropathy, and deafness: 617519: Associated With sptbn4 Via Experimental Models . No data available. Gene Ontology . Protein Domains . Domain, Family, and Site Summary . No ... brantley county sheriff office

WikiGenes - SPTBN4 - spectrin, beta, non-erythrocytic 4

WebDisease Any Acute myeloid leukemia Breast cancer Cervical cancer Chronic lymphocytic leukemia Colorectal cancer Diffuse large B-cell lymphoma Endometrial cancer Glioma … WebRYR3, MYOM2, ERGIC1, SPTBN4, and ABCA7 represent genes, identified in two or more families, for which mutations are probably causative for arthrogryposis. We also provide evidence for the involvement of CNVs in the etiology of arthrogryposis and for the idea that both mono-allelic and bi-allelic variants in the same gene cause either similar or distinct … WebPathogenic variants in various spectrin genes are associated with erythroid cell disorders (SPTA1, SPTB) and neurologic disorders (SPTAN1, SPTBN2, and SPTBN4), but no … brantley county school district

Neurofilament light polypeptide - Wikipedia

Sptbn4 MGI Mouse Gene Detail - MGI:1890574 - spectrin beta, non ...

WebThe world's first wiki where authorship really matters. Due credit and reputation for authors [authorship tracking technology]. Imagine a global collaborative knowledge base for original thoughts [Nature Genetics]. Web16 Jul 2024 · SPTBN4 disorder is typically characterized by severe-to-profound developmental delay and/or intellectual disability, although two individuals in one family … brantley county sheriff\u0027s office gaWebNeurofilament light polypeptide, also known as neurofilament light chain, abbreviated to NF-L or Nfl and with the HGNC name NEFL is a member of the intermediate filament protein family. This protein family consists of over 50 human proteins divided into 5 major classes, the Class I and II keratins, Class III vimentin, GFAP, desmin and the ... brantley county sheriff\u0027s office nahunta ga

"WebWe synthesized 12 analogues of the wheat gluten derived α-I-gliadin peptide and tested their binding to the celiac disease associated HLA-DQ2 protein. ... (SPTBN4) associates with congenital ... " - Sptbn4 disease

Sptbn4 disease

WebSPTBN4 Gene - Somatic Mutations in Cancer Actionability v8 is now available for download Gene GRCh38 · COSMIC v97 Gene view The gene view histogram is a graphical view of mutations across SPTBN4. These mutations are displayed at the amino acid level across the full length of the gene by default. Web6 Apr 2024 · To date, most publications have considered schwannoma from a surgical point of view [1,9], while very little is known about the molecular, especially proteomic, features of the tumor.Only in the last 5 years, more than 300 articles that are devoted to the mass spectrometric study of CSF in the context of neurodegenerative diseases (e.g., …

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Web10 Nov 2024 · At least 11 individuals from 9 unrelated families with biallelic variants in SPTBN4 reported at present. Motor neuronopathy/axonopathy was reported in 5 … Webgenes in panel. prev next aars 8 abca1 4 aifm1 8 atl1 7 atp1a1 3 atp7a 8 bicd2 7 bscl2 8 c1orf194 4 chchd10 6 cox6a1 8 cpox 3 cyp27a1 2 dctn1 8 dnajb2 7 dnm2 8 dnmt1 6 dst 6 dync1h1 8 egr2 8 elp1 7 fbln5 5 fgd4 8 fig4 9 gars 8 gdap1 8 gjb1 8 gnb4 8 gsn 3 hars 6 hexa 3 hexb 4 hint1 6 hk1 6 hmbs 2 hspb1 8 hspb8 8 ighmbp2 8 inf2 6 kif1a 6 kif5a 6 litaf 8 …

WebEvidence-Based Prevention of Alzheimer's Disease: Systematic Review and Meta-Analysis of 243 Observational Prospective Studies and 153 Randomised Controlled Trials; ... SPTBN4, SPTBN3, Spnb4, KIAA1642, EMBL BAB83243.1 and Ensembl ENSRNOP00000028393, accession number Q9H254) Mouse: 98% identity (209/212 amino acids identical) ... WebDisease Any Acute myeloid leukemia Breast cancer Cervical cancer Chronic lymphocytic leukemia Colorectal cancer Diffuse large B-cell lymphoma Endometrial cancer Glioma …

WebHuman diseases caused by Sptbn4 mutations The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER. Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes. WebDescription: Homo sapiens DISC1 scaffold protein (DISC1), transcript variant L, mRNA. (from RefSeq NM_018662) RefSeq Summary (NM_018662): This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction …

WebFunctional Associations. SPTBN4 has 3,809 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 73 datasets.

WebGene target information for SPTBN4. Find diseases associated with this biological target and compounds tested against it in bioassay experiments. brantley county tag office nahunta ga brantley county tax commissioner\u0027s officeWeb13 Nov 2024 · It is likely that Sprr1a loss contributes to complex sickle pathobiology leading to dehydration due to loss of water from thin and permeant skin, non-healing skin ulceration, neuropathy and pain. In conclusion, through genetic and proteomic approaches, we have identified Sprr1a as a novel treatable target for several consequences of SCD. brantley county taxWebgenes in panel. prev next abhd12 3 actg1 4 adgrv1 5 aifm1 2 alms1 3 atp6v1b1 3 atp6v1b2 1 bcs1l 4 bsnd 3 cabp2 3 ccdc50 6 cdc14a 2 cdh23 5 ceacam16 5 cep250 2 cep78 1 chd7 3 cib2 5 cisd2 3 cldn14 5 clpp 5 clrn1 5 coch 7 col11a1 3 col11a2 4 col2a1 3 col4a5 3 col9a1 3 col9a2 2 dfna5 6 dfnb59 6 diaph1 5 dmxl2 4 dnmt1 5 dspp 3 edn3 6 ednrb 6 eps8 3 … brantley county to evans countyWeb26 Mar 2024 · Variants in SPTBN4 disrupt the cytoskeletal machinery that controls proper localization of ion channels and the function of axonal domains, thereby generating … brantley county tax commissioner addressWebSpectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin Cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family … brantley county tag office phone numberWebCurrent Therapeutic Targets for Alzheimer's Disease; Research Highlights. A Brainwide Atlas of Synapses Across the Mouse Life Span; A Circadian Rhythm-Gated Subcortical Pathway for Nighttime-Light-Induced Depressive-Like Behaviors in Mice; A Functional Map for Diverse Forelimb Actions within Brainstem Circuitry brantleycreditcounselingllc.com