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8,003 Possible Causes for 2, Allele, Bone, Morphogenetic, Protein, wt

Did you mean: 2, Allele, Bone, Morphogenetic, proteus, wt

  • Fibrodysplasia Ossificans Progressiva

    25, 2015 /PRNewswire/ -- Clementia Pharmaceuticals, Inc. today announced the initiation of enrollment of children as young as 6 years old in the company's ongoing Phase 2[prnewswire.com] Here we describe another treatment strategy for FOP using allele-specific RNA interference (ASP-RNAi), and show modified small interfering RNAs (siRNAs) conferring allele-specific[ncbi.nlm.nih.gov] Abstract Bone morphogenetic protein (BMP) receptor kinases are tightly regulated to control development and tissue homeostasis.[ncbi.nlm.nih.gov] First, the pathway forms a cartilage scaffold, then transforms it into bone. The result is normal bone – not just mineral deposits – in the wrong places.[philly.com] In this study we compared the signalling responses of ACVR1 WT and ACVR1 R206H to different ligands.[ncbi.nlm.nih.gov] The most common allelic variant leading to FOP is c.617 G A; p.R206H, however, other alleles have been reported with atypical phenotypes.[ncbi.nlm.nih.gov]

  • Osteoporosis

    […] that BMD correlates negatively with BTMs and positively with E 2 and Mg (2 ) levels.[ncbi.nlm.nih.gov] Thus, we provide further evidence of bone phenotypes beyond those typically associated with SATB2-associated syndrome in individuals with potential dominant-negative SATB2 alleles[ncbi.nlm.nih.gov] We hypothesize that overexpression of bone morphogenetic protein 2 may be the underlying mechanism of osteoporosis and recurrent fractures. 2015 Wiley Periodicals, Inc.[ncbi.nlm.nih.gov] Excerpt This first-ever Surgeon General’s Report on bone health and osteoporosis illustrates the large burden that bone disease places on our Nation and its citizens.[ncbi.nlm.nih.gov] Clinical Relevance Table for Fracture ‐ Primary Prevention Trials Outcome # Patients # Trials Control Event Rate Wt Absolute RD Wt Rel % Change NNT B Statistical Sig Quality[doi.org] A similar increase in risk was observed for animal protein, but no association was found for consumption of vegetable protein.[doi.org]

  • Familial Pulmonary Arterial Hypertension

    Mutations in the bone morphogenetic protein receptor 2 (BMPR2) have been identified in at least 70% of FPAH patients.[ncbi.nlm.nih.gov] […] most active -509 TGFbeta1 SNP genotypes had penetrances of 33, 72, and 80%, respectively (P 0.003), whereas those with 0-1, 2, or 3-4 active single nucleotide polymorphism alleles[ncbi.nlm.nih.gov] Abraham WT, Raynolds MV, Badesch DB et al (2003) Angiotensin-converting enzyme DD genotype in patients with primary pulmonary hypertension: increased frequency and association[link.springer.com] KEYWORDS: BMPR2; ERAD; FPAH; Missense mutations; Protein misfolding[ncbi.nlm.nih.gov] Nested from those subjects, a case-control study of urinary oestrogen metabolite levels (2-hydroxyoestrogen (2-OHE) and 16alpha-hydroxyoestrone (16alpha-OHE(1))) was conducted[ncbi.nlm.nih.gov] One of the novel indels was a large deletion of 6.5 kilobases in length by which one allele lacks the entire region of exon 3 (Additional file 2 : Figure S1).[bmcpulmmed.biomedcentral.com]

  • Diamond-Blackfan Anemia

    Importantly, 2 mutations identified in DBA patients, Val15Phe and Gly127Gln, each of which localized to 1 of the 2 NoS, failed to localize RPS19 to the nucleolus.[ncbi.nlm.nih.gov] Mutation analysis in our cases did not show an RPS19 mutation, and 2 alleles were present in each.[ncbi.nlm.nih.gov] Ferritin upregulates hepatic expression of bone morphogenetic protein 6 and hepcidin in mice . Am. J. Physiol. Gastrointest.[doi.org] KEYWORDS: Anemia, Diamond-Blackfan; Bone Marrow Transplantation; Erythrocyte Enzyme Deficiency; Red Cell Enolase Deficiency[ncbi.nlm.nih.gov] Moreover, when the mutant cells were corrected by ectopic expression of WT RPS19 or RPL5, levels of p-JNK returned to normal.[ncbi.nlm.nih.gov] , along with rarer abnormalities of additional ribosomal proteins.[ncbi.nlm.nih.gov]

  • Hereditary Hypophosphatemic Rickets with Hypercalciuria

    (RV: 43.12 10.21 ), 19µEq/min/1.73m 2 (RV: 63,80 19,54) and 36µEq/min/1,73m 2 (RV: 107.17 28.18 ), respectively (analytical standard of incomplete distal renal tubular acidosis[revistanefrologia.com] The predominant allele for IVS4 54T C was C (allele frequency 0.78; SD 0.03) and for H258H was T (allele frequency 0.71; SD 0.04).[jasn.asnjournals.org] Category: Rare Bone Diseases Plenary Sessions, Presentation Number: FR0330 Session: Welcome Reception & Plenary Poster Session Friday, September 16, 2016 5:30 PM - 7:00 PM[asbmr.org] WT denotes normal control sample. C, Sequence homologies in the SLC34A3 introns. Genomic DNA sequence of exons 9 through 11 is shown.[academic.oup.com] Pages: 1 NPT2C Polyclonal Antibody Gene Names: NPT2C ; SLC34A3; HHRH; NPTIIc Other Names: Sodium-dependent phosphate transport protein 2C; Sodium-phosphate transport protein[mybiosource.com] Bone radiographs show short, squat long bones and coarse, axial skeleton trabeculation.[boneandspine.com]

    Missing: Morphogenetic
  • Osteogenesis Imperfecta

    Table 2.[ncbi.nlm.nih.gov] To the best of our knowledge, this is the first example of a patient with double COL1A2 glycine substitution mutations on the same allele.[ncbi.nlm.nih.gov] Finally, absence of the type I collagen C-propeptidase bone morphogenetic protein 1 (BMP1) causes type XII osteogenesis imperfecta due to altered collagen maturation/processing[ncbi.nlm.nih.gov] […] fragility of bone.[patient.info] Although OI mice have significant physical impairment that may contribute to metabolic differences, we specifically accounted for movement and compared OI and WT animals during[ncbi.nlm.nih.gov] KEYWORDS: Autophagy; Chemical chaperone; Collagen; Endoplasmic reticulum stress; Osteogenesis imperfecta; Unfolded protein response[ncbi.nlm.nih.gov]

  • LIG4 Syndrome

    Term Browser Genes (2) Models (2) Disease References using Mouse Models (2)[informatics.jax.org] The patient was compound heterozygous; the mutation in the other LIG4 allele was arg814 to ter (601837.0002).[coriell.org] Blood. 87 (1): 386-92. 1996 Jan 1 PubMed Über diesen Artikel Titel Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure[springermedizin.de] The A3V T9I protein showed reduced adenylation activity compared with WT LIG4 protein ( 50% of the WT activity) (Fig. 2 A).[academic.oup.com] Tandem BRCT domains of LigIV mediate a unique mode of protein-protein interaction.[mcb.asm.org] Patient T cells show 2 peaks for CD3 T cells at 1 hour postirradiation (absent at 24 hours).[bloodadvances.org]

    Missing: Morphogenetic
  • Vitamin K

    Subjects were randomized into four groups (each having 43 subjects in vitamin K(2) therapy group, vitamin D(3) therapy group, vitamin K(2) and D(3) combined therapy group,[ncbi.nlm.nih.gov] Remarkably, Gla excretion in subjects bearing the apo ε2 allele was significantly lower (11.9 4.2) than in those bearing combinations of the ε3 and ε4 alleles (20.3 4.1).[doi.org] Furthermore, vitamin K2 prevented repression by tumor necrosis factor α (TNFα) of SMAD signaling induced by either transforming growth factor ß (TGFß) or bone morphogenetic[ncbi.nlm.nih.gov] Vitamin K has been purported to play an important role in bone health.[ncbi.nlm.nih.gov] Only biotinylated wild-type (WT) YAP was used as the target protein.[doi.org] Approximately 60% of protein S in human plasma is bound to the complement regulatory protein C4b-binding protein (C4BP) in a high-affinity, high-molecular-weight complex.[ncbi.nlm.nih.gov]

  • Juvenile Myelomonocytic Leukemia

    Abstract We present a case of a 2-year-old girl, who developed concomitant EBV-related B-cell proliferation and juvenile myelomonocytic leukemia (JMML).[ncbi.nlm.nih.gov] Disruption of the remaining NF1 allele can be found in malignant cells.[ncbi.nlm.nih.gov] Gov't MeSH terms Bone Morphogenetic Protein 4/genetics Calcitonin/genetics Calcitonin Gene-Related Peptide Case-Control Studies Child Child, Preschool Cohort Studies CpG Islands[ncbi.nlm.nih.gov] The inhibitory effect of TNF-a on normal hematopoiesis causes bone marrow suppression and results in anemia and thrombocytopenia.[78stepshealth.us] Cbl(WT).[cancerres.aacrjournals.org] […] p21(ras) ras Proteins CBL protein, human[ncbi.nlm.nih.gov]

  • Progressive Osseous Heteroplasia

    As a characteristic feature, such type 2 segmental involvement is far more pronounced than the type 1 segmental mosaicism as noted in otherwise healthy individuals.[ncbi.nlm.nih.gov] Single nucleotide polymorphism analysis revealed paternal transmission of the mutant allele.[ncbi.nlm.nih.gov] […] progressiva. 1.2 OMIM# of the disease 135100. 1.3 Name of the analysed genes or DNA/chromosome segments Activin A type I receptor/activin-like kinase 2 (ACVR1/ALK2) a bone morphogenetic[nature.com] ., Ph.D. 2 Bone-fat reciprocity in progressive osseous heteroplasia (POH) 3 Bone-fat phenotype in POH Osteoblast differentiation and HO Adipocyte differentiation and leaness[slideplayer.com] , human GTP-Binding Protein alpha Subunits, Gs Supplementary concept Osseous Heteroplasia, Progressive[ncbi.nlm.nih.gov] MAIN OUTCOME MEASURES: The parental origin of the mutated allele was studied using informative intragenic polymorphisms and subcloning of PCR products.[ncbi.nlm.nih.gov]