Smabf1

WebbSMABF1; zinc finger, C2HC5-type; ZC2HC5; TRIP-4; thyroid receptor-interacting protein 4; MDCDC; HsT17391; ASC-1; ASC1; activating signal cointegrator 1; TR ... 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.

Anti-ASC1 Antibodies Invitrogen - Thermo Fisher Scientific

The 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 ... WebbOsztályozás. Az érintett izmok típusa alapján a gerinc izomsorvadásai a következőkre oszthatók: Proximális gerincizom -sorvadások, azaz olyan állapotok, amelyek elsősorban a proximális izmokat érintik ;; A gerinc disztális izomsorvadásai (amelyek jelentősen átfedik a disztális örökletes motoros neuronopathiákkal), ahol elsősorban a distalis izmokat érintik . side effects of paint thinner inhalation https://bossladybeautybarllc.net

Rabbit anti-TRIP4/ASC-1 Antibody, Affinity Purified - Bethyl ...

Webb9325 56404 Ensembl ENSG00000103671 ENSMUSG00000032386 UniProt Q15650 Q9QXN3 RefSeq (mRNA) NM_016213 NM_001321924 NM_001170907 NM_019797 NM_001357872 RefSeq (protein) NP_001308853 NP_057297 NP_001164378 NP_062771 NP_001344801 Location (UCSC) Chr 15: 64.39 – 64.46 Mb Chr 9: 65.74 – 65.82 Mb … WebbThis gene encodes a subunit of the tetrameric nuclear activating signal cointegrator 1 (ASC-1) complex, which associates with transcriptional coactivators, nuclear receptors … WebbSpinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the … the pit the movie

Entry - #616867 - SPINAL MUSCULAR ATROPHY WITH …

Category:TRIP4 thyroid hormone receptor interactor 4 - NIH Genetic Testing ...

Tags:Smabf1

Smabf1

Disease #05454 (SMABF1 (atrophy, muscular, spinal, with …

WebbMutations 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 http://www.solarbio.net/goods.php?id=18317

Smabf1

Did you know?

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; … WebbSMABF1: 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-

Webb14 maj 2024 · Spinal muscular atrophy with congenital bone fractures 1, 616866, Autosomal recessive; SMABF1 (TRIP4 gene) (Sequence Analysis-All Coding Exons) … WebbSPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1 ORPHA: 486811; INHERITANCE - Autosomal recessive [SNOMEDCT: 258211005] [UMLS: …

WebbAffected 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 … Webbthyroid hormone receptor interactor 4 , ASC-1 , ASC1 , HsT17391 , MDCDC , SMABF1 , ZC2HC5 Cellular Localization Nucleus,Cytoplasm, cytosol Background This gene ...

WebbTRIP4 has 3,710 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, …

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 … side effects of palaferWebb1 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. the pit thumbnailWebbBackground : This gene encodes a subunit of the tetrameric nuclear activating signal cointegrator 1 (ASC-1) complex, which associates with transcriptional coactivators, nuclear re the pit ticketsWebb1 maj 2024 · SMA beside SMN genes, although rare entries, but keep a high degree of suspicion if; 1. SMN gene testing negative,2. Inheritance pattern does not look like an AR … side effects of pain relieverWebbSPINAL 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 ... side effects of pain killerWebbactivating 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 ) … the pitt house of gainzWebbBoster Bio Anti-ASC1/TRIP4 Antibody Picoband™ catalog # A07762-2. Tested in ELISA, WB applications. This antibody reacts with Human. the pitt house