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1,285 Possible Causes for M, centromere, protein

Did you mean: M, centromere, proteus

  • Shwachman Syndrome

    Chenard M-P, Rialland F, Grain A, Bene M-C, Eveillard M, Vincent M, Guy J, Faivre L, Thauvin-Robinet C, Thevenon J, Myers K, Fleming MD, Shimamura A, Bottollier-Lemallaz[ncbi.nlm.nih.gov] Finer mapping revealed significant linkage across a broad interval that included the centromere.[ncbi.nlm.nih.gov] […] or as smaller protein-protein complexes.[biomedcentral.com]

  • Idiopathic Pulmonary Fibrosis

    K , Habib M , Horiuchi T , Ingrassia T , Kallay M , Landis J , Lasky J , Lorch D , Magnussen H , Morrell F , Morrison L , Musk M , Pfeifer M , Roman J , Rosen G , Sakkhija[ncbi.nlm.nih.gov] […] status for the two most common antibodies found in the cohort, anti-DNA topoisomerase 1 antibodies (ATA), which is known to be tightly linked to the presence of ILD, and anti-centromere[doi.org] […] misfolded proteins when they accumulate.[ncbi.nlm.nih.gov]

  • LIG4 Syndrome

    PMID: 16088910 O’Driscoll, M.; Cerosaletti, K. M.; Girard, P.-M.; Dai, Y.; Stumm, M.; Kysela, B.; Hirsch, B.; Gennery, A.; Palmer, S. E.; Seidel, J.; Gatti, R.[humpath.com] Mental retardation, autosomal dominant 22612337 ZBTB20248.611Primrose syndrome,259050 ZBTB24191.311Immunodeficiency-centromeric instability-facial anomalies syndrome-2,614069[qgenomics.com] Tandem BRCT domains of LigIV mediate a unique mode of protein-protein interaction.[mcb.asm.org]

  • Premature Centromere Division

    BACKGROUND: Mitotic configurations consistent in split centromeres and splayed chromatids in all or most of the chromosomes or premature centromere division (PCD) have been[ncbi.nlm.nih.gov] In particular, the researchers looked at two kinds of proteins known to be important for depositing proteins onto chromosomes.[www2.lbl.gov] Crossref Google Scholar [26] Yokoyama, H., Gruss, O.J., Rybina, S., Caudron, M., Schelder, M., Wilm, M., Mattaj, I.W. and Karsenti, E.[degruyter.com]

  • Spinal Muscular Atrophy

    We now report a patient with typical features of SMA type II who carried homozygous deletions of SMN(T) exon 7 and centromeric SMN (SMN(C)) exon 8 but retained SMN(T) exon[ncbi.nlm.nih.gov] Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells C Angelozzi , F Borgo , F D Tiziano , A Martella , G Neri , C Brahe Istituto di Genetica[doi.org] Garcia Romero M , Aguilar C , Munell Casadesus F , Gomez Garcia de la Banda MB , Gallardo M , Gili G , Alavarez Molinero M , de Los Angeles Tormos Munoz M , Palacios NJ ,[ncbi.nlm.nih.gov]

  • Waldenstrom Macroglobulinemia

    Tedeschi A 1 , Picardi P 1 , Ferrero S 2 , Benevolo G 3 , Margiotta Casaluci G 4 , Varettoni M 5 , Baratè C 6 , Motta M 7 , Gini G 8 , Goldaniga MC 9 , Visco C 10 , Zaja F[ncbi.nlm.nih.gov] Left, a sample with a whole 6p arm gain, including the centromere; center, a FISH pattern compatible with the presence of an isochromosome 6p; right, a 6p interstitial gain[doi.org] We report a case of WM associated with significant gastrointestinal involvement manifest as chronic diarrhea with protein-losing enteropathy and recurrent venous thromboses[ncbi.nlm.nih.gov]

  • Inflammation

    Serology revealed positive antinuclear antibodies with a centromere staining pattern; subsequent rheumatology review revealed extensive telangiectasia with digital ulceration[ncbi.nlm.nih.gov] The rate of protein synthesis in vivo was measured by the incorporation of [3H]phenylalanine into liver proteins in a chronic (5 day) intra-abdominal abscess model.[doi.org] Larsen and Peter M.[doi.org]

  • Spinocerebellar Ataxia Type 1

    Tessa M. Giannelli D. De Grandis R. Plasmati F. Salvi S. Piacentini M.[doi.org] Abstract The gene responsible for spinocerebellar ataxia type 1 (SCA1) has been localized to a 6.7-cM region between the centromeric marker D6S109 and the telomeric marker[ncbi.nlm.nih.gov] Here we show that the expanded polyglutamine tract differentially affects the function of the host protein in the context of different endogenous protein complexes.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Primary Microcephaly

    Kousar R 1 , Nawaz H , Khurshid M , Ali G , Khan SU , Mir H , Ayub M , Wali A , Ali N , Jelani M , Basit S , Ahmad W , Ansar M .[ncbi.nlm.nih.gov] Authors Mirzaa GM, Vitre B, Carpenter G, Abramowicz I, Gleeson JG, Paciorkowski AR, Cleveland DW, Dobyns WB, O'Driscoll M Title Mutations in CENPE define a novel kinetochore-centromeric[genome.jp] Two previously reported (8508delGA, W1326X) and four novel sequence variants (Y1712X, I1717X, Y3353X, R3244X) were detected and all were predicted to be protein truncating[ncbi.nlm.nih.gov]

  • Terminal 4q Deletion Syndrome

    Giuffrè M, La Placa S, Carta M, Cataliotti A, Marino M, Piccione M, Pusateri F, Meli F, Corsello G: Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome[springermedizin.de] Each chromosome has a long (q) and a short (p) arm, joined together at centromere.[ 2 ] Chromosome 4q deletion is a rare event.[ncbi.nlm.nih.gov] Three genes in this region, namely TLL1 (Tolloid‐like‐1), HPGD (15‐hydroxyprostaglandin dehydrogenase), and HAND2 (Heart and neural crest derivatives‐expressed protein 2),[deepblue.lib.umich.edu]