Smabf1
WebbView mouse Trip4 Chr9:65736212-65816076 with: phenotypes, sequences, polymorphisms, proteins, references, function, expression http://www.solarbio.net/goods.php?id=18317
Smabf1
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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 … 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 …
Webb21 mars 2024 · This gene encodes a subunit of the tetrameric nuclear activating signal cointegrator 1 (ASC-1) complex, which associates with transcriptional coactivators, … WebbDisease or Syndrome. Myofibrillar myopathy-6 is an autosomal dominant severe neuromuscular disorder characterized by onset in the first decade of rapidly progressive …
Webbactivating 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 ) … 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. Protein Names Activating signal cointegrator 1, Thyroid receptor-interacting protein 4, …
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 heterogeneity of spinal muscular atrophy with congenital bone fractures, see SMABF1 (616866). (616867) (Updated 26-Feb-2024) sharper image headphones manualWebb1 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 … sharper image heated neck wrapWebbAntibodies that detect ASC1 can be used in several scientific applications, including Western Blot, Immunohistochemistry, Immunoprecipitation, Immunocytochemistry and … sharper image heated ice scraper reviewsWebbTRIP4 has 3,710 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, … sharper image headphones instructionsWebbSMABF1: 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- sharper image heated massage gunThe 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 ... sharper image heated shirtWebbSpinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the … sharper image heated insole reviews