Citations for
1COXPD13, PNPT1, RMRP
Mutation in PNPT1, which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency.
Vedrenne V, Gowher A, De Lonlay P, Nitschke P, Serre V, Boddaert N, Altuzarra C, Mager-Heckel AM, Chretien F, Entelis N, Munnich A, Tarassov I, Rötig A.
Am J Hum Genet 91(5):912-8. doi: 10.1016/j.ajhg.2012.09.001. Epub 2012 Oct 18. 2012
2CHH, RMRP
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.
Hum Immunol 71(9):916-919. Epub 2010 Jun 9.PMID: 20538026 2010
3RMRP, TERT
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.
Nature 461(7261):230-5. Epub 2009 Aug 23. 2009
4CHH, RMRP
Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia.
Rider NL, Morton DH, Puffenberger E, Hendrickson CL, Robinson DL, Strauss KA.
Clin Immunol 131(1):119-28. Epub 2009 Jan 16.PMID: 19150606 2009
5CHH, RMRP, SIOD, SMARCAL1
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.
Am J Med Genet A 146A(15):2013-7. No abstract available. 2008
6CHH, RMRP
Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma.
Taskinen M, Ranki A, Pukkala E, Jeskanen L, Kaitila I, Mäkitie O.
Am J Med Genet A 146A(18):2370-5. 2008
7CHH, POP5, RMRP
Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly.
Welting TJ, Mattijssen S, Peters FM, van Doorn NL, Dekkers L, van Venrooij WJ, Heus HA, Bonafé L, Pruijn GJ.
Biochim Biophys Acta 1783(3):455-66. Epub 2007 Dec 8. 2008
8CHH, RMRP
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.
J Allergy Clin Immunol 122(6):1178-84. Epub 2008 Sep 19.PMID: 18804272 2008
9CHH,RMRP,SMD2
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.
Am J Hum Genet 81(3):519-29. Epub 2007 Aug 6. 2007
10RMRP, CHH
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.
Am J Med Genet A 143(22):2675-81. 2007
11RMRP, CHH
RMRP mutations in cartilage-hair hypoplasia.
Hermanns P, Tran A, Munivez E, Carter S, Zabel B, Lee B, Leroy JG.
Am J Med Genet A 140(19):2121-30. 2006
12RPS19, CHH, RMRP
Analysis of RPS19 in patients with cartilage-hair hypoplasia and severe anemia: preliminary results.
Williams MS, Hermanns P.
Am J Med Genet A 138(1):66-7. No abstract available. 2005
13RPS19, RMRP, CHH
The natural history of severe anemia in cartilage-hair hypoplasia.
Williams MS, Ettinger RS, Hermanns P, Lee B, Carlsson G, Taskinen M, Makitie O.
Am J Med Genet A 138(1):35-40. 2005
14RMRP, CHH, SMD2
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, Ruschendorf F, Sticht H, Spranger J, Muller D, Zweier C, Schmitt ME, Reis A, Rauch A.
Am J Hum Genet 77(5):795-806. Epub 2005 Sep 29. 2005
15CDMS, CHH, RMRP, RNASEH1
Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia.
Ridanpaa M, Ward LM, Rockas S, Sarkioja M, Makela H, Susic M, Glorieux FH, Cole WG, Makitie O.
J Med Genet 40(10):741-746. 2003
16CHH, RMRP
Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene.
Kuijpers TW, Ridanpaa M, Peters M, De Boer I, Vossen JM, Pals ST, Kaitila I, Hennekam RC.
J Med Genet 40(10):761-766. No abstract available. 2003
17CHH, RMRP
RMRP mutations in Japanese patients with cartilage-hair hypoplasia.
Nakashima E, Mabuchi A, Kashimada K, Onishi T, Zhang J, Ohashi H, Nishimura G, Ikegawa S.
Am J Med Genet 123A(3):253-6. 2003
18RMRP
RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.
Bonafe L, Schmitt K, Eich G, Giedion A, Superti-Furga A.
Clin Genet 61(2):146-51. 2002
19CHH, RMRP
Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.
Ridanpaa M, Sistonen P, Rockas S, Rimoin DL, Makitie O, Kaitila I.
Eur J Hum Genet 10(7):439-47. 2002
20CHH, RMRP
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.
Ridanpaa M, van Eenennaam H, Pelin K, Chadwick R, Johnson C, Yuan B, vanVenrooij W, Pruijn G, Salmela R, Rockas S, Makitie O, Kaitila I, de la Chapelle A.
Cell 104(2):195-203. 2001
21RMRP, RNASEH1
Architecture and function of the human endonucleases RNase P and RNase MRP.
van Eenennaam H, Jarrous N, van Venrooij WJ, Pruijn GJ.
IUBMB Life 49(4):265-72. Review. 2000
22RMRP
The gene for the DNA component of the mitochondrial RNA-processing endoribonuclease is located on human chromosome 9p and on mouse chromosome 4.
Hsieh CL, et al.
Genomics 6 : 540-544. 1990
23RMRP
Characterization of human MRP/Th RNA and its nuclear gene: full length MRP/Th RNA is an active endoribonuclease when assembled as an RNP.
Topper JN, Clayton DA.
Nucleic Acids Res 18(4):793-9. 1990
24MTHPR, RMRP
A mammalian mitochondrial RNA processing activity contains nucleus-encoded RNA.
Chang DD, et al.
Science 235 : 1178-1184. 1987