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    RMRP RNA component of mitochondrial RNA processing endoribonuclease [ Homo sapiens (human) ]

    Gene ID: 6023, updated on 11-Jun-2017

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    we have identified RMRP as a common target gene of the Wnt and Hippo signaling pathways which could enhance the tumorigenic potential of cancer cells

    Wnt activated β-catenin and YAP proteins enhance the expression of non-coding RNA component of RNase MRP in colon cancer cells.
    Park J, Jeong S., Free PMC Article

    RMRP mutations can cause short stature and significant immunodeficiency which can be corrected by allogeneic SCT and the diagnosis should be considered even in the absence of skeletal manifestations.

    Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.
    Ip W, Gaspar HB, Kleta R, Chanudet E, Bacchelli C, Pitts A, Nademi Z, Davies EG, Slatter MA, Amrolia P, Rao K, Veys P, Gennery AR, Qasim W.

    The results described here suggest that the endo-siRNA uses silencing mechanisms that are similar to those used by microRNAs for gene silencing.

    Off-target effect of endogenous siRNA derived from RMRP in human cells.
    Maida Y, Kyo S, Lassmann T, Hayashizaki Y, Masutomi K., Free PMC Article

    Alterations RMRP-S1 and -S2, caused by point mutations in RMRP, are strongly implicated in the molecular mechanism of human cartilage-hair hypoplasia.

    Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.
    Rogler LE, Kosmyna B, Moskowitz D, Bebawee R, Rahimzadeh J, Kutchko K, Laederach A, Notarangelo LD, Giliani S, Bouhassira E, Frenette P, Roy-Chowdhury J, Rogler CE., Free PMC Article

    Molecular diagnosis confirmed two novel RMRP mutations in a compound heterozygous state in two siblings with cartilage-hair hypoplasia.

    Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations.
    Reicherter K, Veeramani AI, Jagadeesh S.

    Two novel mutations (g.68_69delinsTT and g.76C>T) were observed in the RMRP gene of a patient diagnosed with cartilage hair hypoplasia associated with severe short stature and a full-blown antibody deficiency.

    Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia.
    Horn J, Schlesier M, Warnatz K, Prasse A, Superti-Furga A, Peter HH, Salzer U.

    identification of a RNA-dependent RNA polymerase composed of TERT in complex with RMRP

    An RNA-dependent RNA polymerase formed by TERT and the RMRP RNA.
    Maida Y, Yasukawa M, Furuuchi M, Lassmann T, Possemato R, Okamoto N, Kasim V, Hayashizaki Y, Hahn WC, Masutomi K., Free PMC Article

    mutations result in cartilage-hair hypoplasia

    Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype.
    Notarangelo LD, Roifman CM, Giliani S.

    severe immunodeficiency was the only phenotypic manifestation associated with RMRP mutations, a novel finding. Mutations leading to significant immune defects were most often located in the promoter

    Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations.
    Kavadas FD, Giliani S, Gu Y, Mazzolari E, Bates A, Pegoiani E, Roifman CM, Notarangelo LD.

    Investigated a family affected with the Spahr type of metaphyseal chondrodysplasia. Sequencing of RMRP, and a haplotype analysis using highly informative markers around the COL10A1 excluded both genes from being pathogenic in this family.

    A multiplex family with possible metaphyseal Spahr-type dysplasia and exclusion of RMRP and COL10A1 as candidate genes.
    Mégarbané A, Chouery E, Ghanem I.

    Mutations in RMRP are not a cause of Schimke immuno-osseous dysplasia.

    Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia.
    Baradaran-Heravi A, Thiel C, Rauch A, Zenker M, Boerkoel CF, Kaitila I., Free PMC Article

    Mutations in RMRP gene is associated with cartilage-hair hypoplasia

    Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia.
    Conwell LS, Hermanns P, Zankl A.

    both promoter and transcribed Cartilage hair hypoplasia mutations lower the expression level of RMRP; reduced transcription was correlated with greater instability of mutant RMRP transcripts

    Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability.
    Nakashima E, Tran JR, Welting TJ, Pruijn GJ, Hirose Y, Nishimura G, Ohashi H, Schurman SH, Cheng J, Candotti F, Nagaraja R, Ikegawa S, Schlessinger D.

    The position and the functional effect of 13 mutations in patients with variable features of the cartilage hair hypoplasia -anauxetic dysplasia spectrum were analysed.

    Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.
    Thiel CT, Mortier G, Kaitila I, Reis A, Rauch A., Free PMC Article

    The A70G "Finnish" mutation is found in the same haplotype in non-Finnish families, and so all likely arose from a single event.

    Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.
    Ridanpää M, Sistonen P, Rockas S, Rimoin DL, Mäkitie O, Kaitila I.

    there is a marked diversity of mutations in RMRP; the low homozygosity rate in a patient population indicates that cartilage-hair hypoplasia is more common than previously estimated

    Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
    Bonafé L, Dermitzakis ET, Unger S, Greenberg CR, Campos-Xavier BA, Zankl A, Ucla C, Antonarakis SE, Superti-Furga A, Reymond A., Free PMC Article

    11 Japanese patients with Cartilage-hair hypoplasia (CHH) were screened for ribonuclease mitochondrial RNA processing (RMRP) mutations and mutations were identified in five probands, including three novel mutations.

    Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.
    Hirose Y, Nakashima E, Ohashi H, Mochizuki H, Bando Y, Ogata T, Adachi M, Toba E, Nishimura G, Ikegawa S.

    RMRP mutations in cartilage-hair hypoplasia.

    RMRP mutations in cartilage-hair hypoplasia.
    Hermanns P, Tran A, Munivez E, Carter S, Zabel B, Lee B, Leroy JG.

    RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant

    RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.
    Bonafé L, Schmitt K, Eich G, Giedion A, Superti-Furga A.

    While mutations in the promoter abolished transcription in vitro, RMRP RNA levels in Cartilage-hair hypoplasia patients with transcribed mutations were also decreased suggesting an unstable RNA.

    Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.
    Hermanns P, Bertuch AA, Bertin TK, Dawson B, Schmitt ME, Shaw C, Zabel B, Lee B.

    a clear association between RMRP mutations and aplastic anemia was not identified

    RMRP mutations in hematological disorders.
    Graf SA, Calado RT, Kajigaya S, Young NS.

    RMRP gene mutations affect rRNA and mRNA cleavage. mRNA cleavage function leads to a progression of cells from mitosis to G1 Phase by a cleavage of Cylcin B2 mRNA at the end of mitosis.The rRNA cleavage function, cleaving the 5.8S rRNA upstream spacer.

    Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.
    Thiel CT, Horn D, Zabel B, Ekici AB, Salinas K, Gebhart E, Rüschendorf F, Sticht H, Spranger J, Müller D, Zweier C, Schmitt ME, Reis A, Rauch A., Free PMC Article

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