Smabf1

Author: fwbw

August undefined, 2024

WebbContact Creative Biolabs to Customize TRIP4 Antibody, which reacts with Chimpanzee (Pan troglodytes). This product is a mouse antibody against TRIP4. It can be used for TRIP4 detection in Western Blot, Enzyme-Linked Immunosorbent Assay. WebbSPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1 ORPHA: 486811; INHERITANCE - Autosomal recessive [SNOMEDCT: 258211005] [UMLS: …

Gene - TRIP4

Webb2 jan. 2024 · Skeletal muscle biopsy showed muscle fiber immaturity, fiber size variation, and atrophic fibers, suggestive of spinal muscular atrophy. Sural nerve biopsy of 2 … WebbMutations in this gene are associated with spinal muscular atrophy with congenital bone fractures-1 (SMABF1).,TRIP4,ASC-1,ASC1,HsT17391,MDCDC,SMABF1,ZC2HC5,Epigenetics & Nuclear Signaling,TRIP4 Molecular Weight 66kDa imyss cell 5

ASC1/TRIP4 Antibody

Webb1 maj 1991 · SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1 (OMIM - 616866) Similar Articles . To arrive at the top five similar articles we use a word-weighted algorithm to compare words from the Title and Abstract of each citation. WebbSMABF1; zinc finger, C2HC5-type; ZC2HC5; TRIP-4; thyroid receptor-interacting protein 4; MDCDC; HsT17391; ASC-1; ASC1; activating signal cointegrator 1; TR-interacting protein 4 Data sheet: View or download WebbImmunofluorescent analysis of ASC1 in HeLa cells. Samples were fixed with paraformaldehyde, permeabilized with 0.1% Triton X-100, blocked with 10% serum (45 min at 25°C) incubated with ASC1 polyclonal antibody (Product # PA5-101174) using a dilution of 1:200 (1 hr, 37°C), and followed by goat anti-rabbit IgG Alexa Fluor 594 at a dilution of … ina choc cake

$FlyBase Gene Report: Dmel\CG11710$

Smabf1

A gerinc izomsorvadásai - Spinal muscular atrophies - abcdef.wiki

WebbThis protein is localized in the nucleus and contains an E1A-type zinc finger domain, which mediates interaction with transcriptional coactivators and ligand-bound nuclear … WebbSMABF1 (atrophy, muscular, spinal, with congenital bone fractures, type 1 (SMABF-1)) HGMD: TRIP4: GeneCards: TRIP4: GeneTests: TRIP4: Orphanet: TRIP4: Active transcripts. Legend Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still.

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WebbBoster Bio Anti-ASC1/TRIP4 Antibody Picoband™ catalog # A07762-2. Tested in ELISA, WB applications. This antibody reacts with Human. Webb14 maj 2024 · Spinal muscular atrophy with congenital bone fractures 1, 616866, Autosomal recessive; SMABF1 (TRIP4 gene) (Sequence Analysis-All Coding Exons) …

Webb14 maj 2024 · Spinal muscular atrophy with congenital bone fractures 1, 616866, Autosomal recessive; SMABF1 (TRIP4 gene) (Sequence Analysis-All Coding Exons) … WebbBackground : This gene encodes a subunit of the tetrameric nuclear activating signal cointegrator 1 (ASC-1) complex, which associates with transcriptional coactivators, nuclear re

Webbthyroid hormone receptor interactor 4 , ASC-1 , ASC1 , HsT17391 , MDCDC , SMABF1 , ZC2HC5 Cellular Localization Nucleus,Cytoplasm, cytosol Background This gene ... WebbThis gene encodes a subunit of the tetrameric nuclear activating signal cointegrator 1 (ASC-1) complex, which associates with transcriptional coactivators, nuclear receptors …

WebbDescription. An autosomal recessive, severe congenital muscular dystrophy characterized by neonatal onset of muscle weakness predominantly involving axial muscles, life-threatening respiratory failure, skin abnormalities and joint hyperlaxity without contractures. Muscle biopsies show multi-minicores, caps and dystrophic lesions. See …

WebbAntibodies that detect ASC1 can be used in several scientific applications, including Western Blot, Immunohistochemistry, Immunoprecipitation, Immunocytochemistry and … ina christine wroldsenWebbSMABF1: Name: atrophy, muscular, spinal, with congenital bone fractures, type 1 (SMABF-1) OMIM ID: 616866: Human Phenotype Ontology Project (HPO) HPO: Inheritance: Autosomal recessive: Individuals reported having this disease: 2: Phenotype entries for this disease: 0: Associated with 1 gene: TRIP4: Associated tissues- ina chocolate chip oatmeal cookiesWebbMutations in this gene are associated with spinal muscular atrophy with congenital bone fractures-1 (SMABF1). [provided by RefSeq, Apr 2016] TRIP4 (thyroid hormone receptor interactor 4) - Rat Genome Database imyyds.comWebbAffected infants have difficulty breathing and feeding and often die in the first days or months of life (summary by Knierim et al., 2016). For a discussion of genetic heterogeneity of spinal muscular atrophy with congenital bone fractures, see SMABF1 (616866). (616867) (Updated 26-Feb-2024) imyt meaning in textWebbSMABF1; Spinal Muscular Atrophy with Congenital Bone Fractures type 1; Spinal Muscular Atrophy with Congenital Bone Fractures 1; Statements. Identifiers. MonDO ID. MONDO:0014806. 1 reference. stated in. Monarch Disease Ontology release 2024-06-29sonu. retrieved. 7 August 2024. MonDO ID. MONDO:0014806. imysheraThe transmission pattern of SMABF1 in the families reported by Knierim et al. (2016) was consistent with autosomal recessive inheritance. Molecular Genetics In 5 patients from 3 unrelated families with spinal muscular atrophy with congenital bone fractures, Knierim et al. (2016) identified homozygous or compound heterozygous nonsense mutations ... ina christmas cookiesWebbSMABF1: Name: atrophy, muscular, spinal, with congenital bone fractures, type 1 (SMABF-1) OMIM ID: 616866: Human Phenotype Ontology Project (HPO) HPO: Inheritance: … ina christou