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417 Possible Causes for Efnb1, mouse, protein

Did you mean: Efnb1, morus, proteus

  • Neuronal Ceroid Lipofuscinosis

    DST DTNA DTNBP1 DUOX2 DUOXA2 DUSP6 DUX4 DYM DYNC1H1 DYNC2H1 DYRK1A DYSF DYX1C1 EARS2 EBP ECE1 ECEL1 ECM1 EDA EDA2R EDAR EDARADD EDN1 EDN3 EDNRB EEF2 EFEMP1 EFEMP2 EFHC1 EFNB1[csbg.cnb.csic.es] Thus, the novel approximately 36-kD CLN6-gene product augments an intriguing set of unrelated membrane-spanning proteins, whose deficiency causes NCL in mouse and man.[ncbi.nlm.nih.gov] To gain insight into the function of CLN8 protein, we employed the split-ubiquitin membrane-based yeast two-hybrid (MYTH) system, which detects protein-protein interactions[ncbi.nlm.nih.gov]

  • Craniofrontonasal Dysplasia

    B, Missense mutation, p.Arg156Cys (denoted by ), in the RBD of EFNB1. The protein structure of human EFNB1 is shown at the top.[ncbi.nlm.nih.gov] Nature 1999;400:77-81 Davy A, Aubin J, Soriano P: Ephrin-B1 forward and reverse signaling are required during mouse development.[karger.com] The transmembrane EFNB1 proteins have conserved cytoplasmic tyrosine residues that are phosphorylated upon interaction with an EphB receptor.[prospecbio.com]

  • Hereditary Hypophosphatemic Rickets with Hypercalciuria

    SKI, FBN2, FKBP14, TNXB, CHST14, ZNF469, ACVR1, NFIX, GLI3, TP63, GDF6, IFT140, CDH3, BMPR1B, WDR19, PIEZO2, PITX1, ZMPSTE24, RIPK4, FGF10, LHX4, ALX4, SALL4, TBX5, EP300, EFNB1[mendelian.co] Models phenotype-based associations Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram.[mousephenotype.org] 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]

  • Pseudoachondroplasia

    Dyplasie, metaphysäre 1 NGS COL10A1, MMP13, MMP9, POP1, PTH1R, RUNX2, SBDS 8-12 Dysostose mit vorwiegend kraniofazialer Beteiligung 1 NGS EVC, ICK, ALX1, OFD1, ALX3, ALX4, EFNB1[bioscientia.de] Therefore, we have generated the first mouse model to show extensive intracellular retention of ECM proteins recapitulating the human PSACH disease process at the cellular[ncbi.nlm.nih.gov] COMP is a secreted pentameric glycoprotein that belongs to the thrombospondin family of proteins.[ncbi.nlm.nih.gov]

  • Menkes Disease

    […] dysplasia, autosomal dominant ANKH Del Dup NGS Craniosynostosis core NGS panel FGFR1, FGFR2, FGFR3, TCF12, TWIST1 Del Dup NGS Craniosynostosis NGS panel CDC45, CYP26B1, EFNB1[ctgt.net] Mottled-dappled (Mo-dp) is a mouse model of Menkes disease caused by a large, previously uncharacterized deletion in the 5' region of Atp7a, the mouse ortholog of ATP7A.[ncbi.nlm.nih.gov] RESULTS: The Menkes mRNA and protein were present in the RPE and neurosensory retina whereas the Wilson mRNA and protein were limited to the RPE.[ncbi.nlm.nih.gov]

  • Xeroderma Pigmentosum Complementation Group C

    Tyrosin-(Y)-Phosphorylierung regulierte Kinase 1); E2F2 (E2F Transkriptionsfaktor 2); E2F5 (E2F Transkriptionsfaktor 5, p130-bindend); EFNA1 (Ephrin-A1); EFNA5 (Ephrin-A5); EFNB1[google.mk] RPA473Mu01 Organism Species Mus musculus (Mouse) Same name, Different species.[cloud-clone.com] Abstract The human homolog of the yeast DNA repair protein RAD23, hHR23A, has been found previously to interact with the human immunodeficiency virus, type 1 accessory protein[ncbi.nlm.nih.gov]

  • Gnathodiaphyseal Dysplasia

    Central hypoventilation syndrome, congenital, Hirschsprung disease, Waardenburg syndrome EDNRB ABCD syndrome, Hirschsprung disease, Waardenburg syndrome EFEMP2 Cutis laxa EFNB1[genda.com.ar] Mouse GDD1 ( mGDD1 ) cDNA was isolated from mouse skeletal muscle cDNA (Clontech) and completed by RT-PCR by use of a mouse genome sequence with high homology to human GDD1[ncbi.nlm.nih.gov] Japanese family and a new African American family), and both missense mutations occur at the cysteine residue at amino acid 356, which is evolutionarily conserved among human, mouse[ncbi.nlm.nih.gov]

  • Rubinstein-Taybi Syndrome

    […] dysplasia, autosomal dominant ANKH Del Dup NGS Craniosynostosis core NGS panel FGFR1, FGFR2, FGFR3, TCF12, TWIST1 Del Dup NGS Craniosynostosis NGS panel CDC45, CYP26B1, EFNB1[ctgt.net] If the mouse remembers the familiar object, it spends more time exploring the novel object.[doi.org] Analyses of the entire CBP gene by the protein truncation test showed 4/37 truncating mutations.[ncbi.nlm.nih.gov]

  • Hermansky-Pudlak Syndrome Type 7

    CPT2 600650 10 CPT II deficiency, lethal neonatal 608836 CPT2 600650 7 Craniofacial-deafness-hand syndromeCDHS 122880 PAX3 606597 10 Craniofrontonasal dysplasiaCFNS 304110 EFNB1[diagenos.com] Here we show that the sdy mutant mouse expresses no dysbindin protein owing to a deletion in the gene Dtnbp1 (encoding dysbindin) and that mutation of the human ortholog DTNBP1[ncbi.nlm.nih.gov] Binary interactions i GO - Molecular function i guanyl-nucleotide exchange factor activity protein dimerization activity Protein-protein interaction databases Structure i[uniprot.org]

  • Chondrodysplasia with Joint Dislocations Type gPAPP

    Craniosynostosis and craniofacial disorders panel EFNB1, ERF, FGFR1, FGFR2, FGFR3, FREM1,... Heterotaxy panel ACVR2B, CFAP53, CFC1, CRELD1, FOXH1,...[centogene.com] Models phenotype-based associations Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram.[mousephenotype.org] Protein type: Membrane protein, integral; EC 3.1.3.25; Phosphatase (non-protein); EC 3.1.3.7 Chromosomal Location of Human Ortholog: 8q12.1 Cellular Component: Golgi apparatus[mybiosource.com]