Format
Sort by

Send to

Choose Destination

Links from Gene

Items: 1 to 20 of 31

1.
2.

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.

J Clin Immunol. 2015 Feb;35(2):147-57. doi: 10.1007/s10875-015-0135-7. Epub 2015 Feb 8.

PMID:
25663137
3.

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.

Hum Mol Genet. 2014 Jan 15;23(2):368-82. doi: 10.1093/hmg/ddt427. Epub 2013 Sep 5.

4.

Off-target effect of endogenous siRNA derived from RMRP in human cells.

Maida Y, Kyo S, Lassmann T, Hayashizaki Y, Masutomi K.

Int J Mol Sci. 2013 Apr 29;14(5):9305-18. doi: 10.3390/ijms14059305.

5.

Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations.

Reicherter K, Veeramani AI, Jagadeesh S.

Indian Pediatr. 2011 Jul;48(7):559-61.

PMID:
21813924
6.

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. 2010 Sep;71(9):916-9. doi: 10.1016/j.humimm.2010.06.002. Epub 2010 Jun 9.

PMID:
20538026
7.

Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype.

Notarangelo LD, Roifman CM, Giliani S.

Curr Opin Allergy Clin Immunol. 2008 Dec;8(6):534-9. doi: 10.1097/ACI.0b013e328310fe7d. Review.

PMID:
18978468
8.

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. 2008 Dec;122(6):1178-84. doi: 10.1016/j.jaci.2008.07.036. Epub 2008 Sep 19.

PMID:
18804272
9.

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. 2008 Aug 1;146A(15):2013-7. doi: 10.1002/ajmg.a.32406. No abstract available.

10.

Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia.

Conwell LS, Hermanns P, Zankl A.

J Pediatr Endocrinol Metab. 2008 Mar;21(3):209-11. No abstract available.

PMID:
18540246
11.

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. 2007 Nov 15;143A(22):2675-81.

PMID:
17937437
12.

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. 2007 Sep;81(3):519-29. Epub 2007 Aug 6.

13.

RMRP mutations in hematological disorders.

Graf SA, Calado RT, Kajigaya S, Young NS.

Clin Genet. 2007 May;71(5):468-70. No abstract available.

PMID:
17489853
14.

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. 2006 Oct 1;140(19):2121-30.

PMID:
16838329
15.

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.

J Hum Genet. 2006;51(8):706-10. Epub 2006 Jul 11.

PMID:
16832578
16.

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.

Hum Mol Genet. 2005 Dec 1;14(23):3723-40. Epub 2005 Oct 27.

17.

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.

Am J Hum Genet. 2005 Nov;77(5):795-806. Epub 2005 Sep 29.

18.

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.

PLoS Genet. 2005 Oct;1(4):e47.

19.

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.

Eur J Hum Genet. 2002 Jul;10(7):439-47.

20.
Items per page

Supplemental Content

Write to the Help Desk