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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[] Finer mapping revealed significant linkage across a broad interval that included the centromere.[] […] or as smaller protein-protein complexes.[]

  • 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[] […] 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[] […] misfolded proteins when they accumulate.[]

  • 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.[] Mental retardation, autosomal dominant 22612337 ZBTB20248.611Primrose syndrome,259050 ZBTB24191.311Immunodeficiency-centromeric instability-facial anomalies syndrome-2,614069[] Tandem BRCT domains of LigIV mediate a unique mode of protein-protein interaction.[]

  • 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[] In particular, the researchers looked at two kinds of proteins known to be important for depositing proteins onto chromosomes.[] Crossref Google Scholar [26] Yokoyama, H., Gruss, O.J., Rybina, S., Caudron, M., Schelder, M., Wilm, M., Mattaj, I.W. and Karsenti, E.[]

  • 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[] 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[] 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 ,[]

  • 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[] 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[] We report a case of WM associated with significant gastrointestinal involvement manifest as chronic diarrhea with protein-losing enteropathy and recurrent venous thromboses[]

  • Inflammation

    Serology revealed positive antinuclear antibodies with a centromere staining pattern; subsequent rheumatology review revealed extensive telangiectasia with digital ulceration[] 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.[] Larsen and Peter M.[]

  • Spinocerebellar Ataxia Type 1

    Tessa M. Giannelli D. De Grandis R. Plasmati F. Salvi S. Piacentini M.[] 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[] Here we show that the expanded polyglutamine tract differentially affects the function of the host protein in the context of different endogenous protein complexes.[]

  • 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 .[] 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[] Two previously reported (8508delGA, W1326X) and four novel sequence variants (Y1712X, I1717X, Y3353X, R3244X) were detected and all were predicted to be protein truncating[]

  • 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[] Each chromosome has a long (q) and a short (p) arm, joined together at centromere.[ 2 ] Chromosome 4q deletion is a rare event.[] Three genes in this region, namely TLL1 (Tolloid‐like‐1), HPGD (15‐hydroxyprostaglandin dehydrogenase), and HAND2 (Heart and neural crest derivatives‐expressed protein 2),[]