Smabf1
WebbSMABF1; 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. Webb21 mars 2024 · This gene encodes a subunit of the tetrameric nuclear activating signal cointegrator 1 (ASC-1) complex, which associates with transcriptional coactivators, …
Smabf1
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WebbSPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1; Functional Complementation Data Functional complementation data is computed by FlyBase using a combination of the orthology data obtained from DIOPT and OrthoDB and the allele-level genetic interaction data curated from the literature. Interactions ... WebbSPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1 ORPHA: 486811; INHERITANCE - Autosomal recessive [SNOMEDCT: 258211005] [UMLS: …
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 … Webb20 okt. 2016 · thyroid hormone receptor interactor 4. Gene ID: 9325, updated on 5-Aug-2024. Gene type: protein coding. Also known as: ASC1; ASC-1; MDCDC; SMABF1; …
WebbRare diseases are not rare. About 30 million people in the U.S. are affected by a rare disease. As you and your caregivers adjust to a rare disease diagnosis, it is normal to be … 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. Protein Names Activating signal cointegrator 1, Thyroid receptor-interacting protein 4, …
Webb14 maj 2024 · Spinal muscular atrophy with congenital bone fractures 1, 616866, Autosomal recessive; SMABF1 (TRIP4 gene) (Sequence Analysis-All Coding Exons) …
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 … fnf but everyone sings at onceWebbMutations 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 fnf but every cover is usedWebbAffected 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) green township pa tax collectorWebbContact Creative Biolabs to Customize trip4 Antibody, which reacts with Zebrafish (Danio rerio). This product is a mouse antibody against trip4. It can be used for trip4 detection in Western Blot, Enzyme-Linked Immunosorbent Assay. fnf but everybody sings it modsWebbactivating signal cointegrator 1, ASC1, ASC-1, HsT17391, MDCDC, SMABF1, thyroid receptor-interacting protein 4, TR-interacting protein 4, TRIP-4, ZC2HC5, zinc finger, C2HC5-type Applications Western blot of immunoprecipitates performed using Normal Pig Serum (Cat. No. S100-020 ), Goat anti-Rabbit Light Chain HRP Conjugate (Cat. No. A120-113P ) … fnf but different characters sing ughWebbBoster Bio Anti-ASC1/TRIP4 Antibody Picoband™ catalog # A07762-2. Tested in ELISA, WB applications. This antibody reacts with Human. green township policeWebbDescription. 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 … fnf but everyone sings everything