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Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability

Nakashima, E.
Tran, J.R.
Welting, T.J.M.
Pruijn, G.J.M.
Hirose, Y.
Nishimura, G.
Ohashi, H.
Schurman, S.H.
Cheng, J.
Candotti, F.
Nagaraja, R.
Ikegawa, S.
Schlessinger, D.

Publication date

January 2007

DOI

10.1002/ajmg.a.32053

ISSN

1552-4825

Citation count (estimate)

19

Abstract

Contains fulltext : 35019.pdf (publisher's version ) (Closed access

Extracted data

Related items

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.

January 2002

Mutations in the RMRP gene that codes for an RNA subunit of the MRP RNAse complex are the cause of c...

Evolutionary Comparison Provides Evidence for Pathogenicity of <em>RMRP</em> Mutations

Luisa Bonafé (60182)
Emmanouil T Dermitzakis (41446)
Sheila Unger (60183)
Cheryl R Greenberg (60184)
Belinda A Campos-Xavier (60185)
Andreas Zankl (60186)
Catherine Ucla (60187)
Stylianos E Antonarakis (60188)
Andrea Superti-Furga (60189)
Alexandre Reymond (11328)

January 2013

<div><p>Cartilage-hair hypoplasia (CHH) is a pleiotropic disease caused by recessive mutations in th...

Genetic homogeneity of Cartilage-hair hypoplasia

Sulisalo, T.
Burgt, I. van der
Rimoin, D.L.
Bonaventure, J.
Sillence, D.
Campbell, J.B.
Chitayat, D.
Scott, C.I.
Chapella, A. de la
Sistonen, P.
Kaitila, I.

January 1995

Contains fulltext : 22098___.PDF (publisher's version ) (Open Access

Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia

Pia Hermanns
Alison A. Bertuch
Terry K. Bertin
Brian Dawson
Mark E. Schmitt
Chad Shaw
Bernhard Zabel
Brendan Lee

January 2005

Cartilage-hair hypoplasia (CHH), also known as metaphyseal chondrodysplasia McKusick type (OMIM no. ...

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.

Ridanpaa, M
Eenennaam, H. van
Pelin, K.
Chadwick, R.
Johnson, C
Yuan, B.
Venrooij, W.J.W. van
Pruijn, G.J.M.
Salmela, R.
Rockas, S.
Makitie, O.
Tollervey, D.
Chapelle, A. dela

January 2001

Item does not contain fulltextThe recessively inherited developmental disorder, cartilage-hair hypop...

Novel Mutation in Boy With Cartilage-hair Hypoplasia

Lin, I-Chun
Yu, Hong-Ren
Lin, Ying-Jui
Wang, Tzu-Jou

December 2010

BackgroundCartilage-hair hypoplasia (MIM 250250) is an autosomal recessive disease with diverse clin...

Type and Level of RMRP Functional Impairment Predicts Phenotype in the Cartilage Hair Hypoplasia–Anauxetic Dysplasia Spectrum

Thiel, Christian T.
Mortier, Geert
Kaitila, Ilkka
Reis, André
Rauch, Anita

September 2007

Mutations in the RMRP gene lead to a wide spectrum of autosomal recessive skeletal dysplasias, rangi...

The molecular basis of the cartilage-hair hypoplasia–anauxetic dysplasia spectrum

Thiel, C T
Rauch, A

January 2011

Cartilage-hair hypoplasia and anauxetic dysplasia are two autosomal recessive skeletal dysplasias ch...

Cartilage hair hypoplasia and the RMRP gene

Hermanns, Pia

January 2005

Introduction: Brief overview of Bone Development Disorders of the Skeleton Cartilage-Hair-Hypoplasia...

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations

Bonafe, Luisa
Dermitzakis, Emmanouil
Unger, Sheila
Greenberg, C. R.
Campos-Xavier, B. A.
Zankl, Andreas
Ucla, Catherine
Antonarakis, Stylianos
Superti-Furga, Andrea
Reymond, Alexandre

January 2005

Cartilage-hair hypoplasia (CHH) is a pleiotropic disease caused by recessive mutations in the RMRP g...

Identification of novel and recurrent RMRP variants in a series of Brazilian patients with cartilage-hair hypoplasia: McKusick syndrome

Gomes, Maria E.
Calatrava Paternostro, Luiza
Moura, Valeria R.
Antunes, Deborah
Caffarena, Ernesto R.
Horovitz, Dafne
Sanseverino, Maria T.
Ferraz Leal, Gabriela
Felix, Temis M.
Pontes Cavalcanti, Denise
Clinton Llerena, Juan Jr.
Gonzalez, Sayonara

April 2020

Cartilage-hair hypoplasia syndrome (CHH) is an autosomal recessive disorder caused by pathogenic var...

Supplementary Material for: Novel Mutation and Structural RNA Analysis of the Noncoding RNase <b><i>MRP</i></b> Gene in Cartilage-Hair Hypoplasia

Cherkaoui Jaouad I. (4153702)
Laarabi F.Z. (4153699)
Chafai Elalaoui S. (4153696)
Lyonnet S. (4153690)
Henrion-Caude A. (4153693)
Sefiani A. (4142971)

June 2015

Cartilage-hair hypoplasia (CHH) is an autosomal recessive disorder which is characterized by bone me...

Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation

Steinbusch, Mandy M. F.
Caron, Marjolein M. J.
Surtel, Don A. M.
Friedrich, Franziska
Lausch, Ekkehart
Pruijn, Ger J. M.
Verhesen, Wouter
Schroen, Blanche L. M.
van Rhijn, Lodewijk W.
Zabel, Bernhard
Welting, Tim J. M.

July 2017

Mutations in the RMRP-gene, encoding the lncRNA component of the RNase MRP complex, are the origin o...

Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia

Ridanpää, Maaret
van Eenennaam, Hans
Pelin, Katarina
Chadwick, Robert
Johnson, Cheryl
Yuan, Bo
vanVenrooij, Walther
Pruijn, Ger
Salmela, Riika
Rockas, Susanna
Mäkitie, Outi
Kaitila, Ilkka
de la Chapelle, Albert

January 2001

AbstractThe recessively inherited developmental disorder, cartilage-hair hypoplasia (CHH) is highly ...

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.

February 2002

Mutations in the RMRP gene that codes for an RNA subunit of the MRP RNAse complex are the cause of c...

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.

January 2002

Mutations in the RMRP gene that codes for an RNA subunit of the MRP RNAse complex are the cause of c...

Evolutionary Comparison Provides Evidence for Pathogenicity of <em>RMRP</em> Mutations

Luisa Bonafé (60182)
Emmanouil T Dermitzakis (41446)
Sheila Unger (60183)
Cheryl R Greenberg (60184)
Belinda A Campos-Xavier (60185)
Andreas Zankl (60186)
Catherine Ucla (60187)
Stylianos E Antonarakis (60188)
Andrea Superti-Furga (60189)
Alexandre Reymond (11328)

January 2013

<div><p>Cartilage-hair hypoplasia (CHH) is a pleiotropic disease caused by recessive mutations in th...

Genetic homogeneity of Cartilage-hair hypoplasia

Sulisalo, T.
Burgt, I. van der
Rimoin, D.L.
Bonaventure, J.
Sillence, D.
Campbell, J.B.
Chitayat, D.
Scott, C.I.
Chapella, A. de la
Sistonen, P.
Kaitila, I.

January 1995

Contains fulltext : 22098___.PDF (publisher's version ) (Open Access

Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia

Pia Hermanns
Alison A. Bertuch
Terry K. Bertin
Brian Dawson
Mark E. Schmitt
Chad Shaw
Bernhard Zabel
Brendan Lee

January 2005

Cartilage-hair hypoplasia (CHH), also known as metaphyseal chondrodysplasia McKusick type (OMIM no. ...

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.

Ridanpaa, M
Eenennaam, H. van
Pelin, K.
Chadwick, R.
Johnson, C
Yuan, B.
Venrooij, W.J.W. van
Pruijn, G.J.M.
Salmela, R.
Rockas, S.
Makitie, O.
Tollervey, D.
Chapelle, A. dela

January 2001

Item does not contain fulltextThe recessively inherited developmental disorder, cartilage-hair hypop...

Novel Mutation in Boy With Cartilage-hair Hypoplasia

Lin, I-Chun
Yu, Hong-Ren
Lin, Ying-Jui
Wang, Tzu-Jou

December 2010

BackgroundCartilage-hair hypoplasia (MIM 250250) is an autosomal recessive disease with diverse clin...

Type and Level of RMRP Functional Impairment Predicts Phenotype in the Cartilage Hair Hypoplasia–Anauxetic Dysplasia Spectrum

Thiel, Christian T.
Mortier, Geert
Kaitila, Ilkka
Reis, André
Rauch, Anita

September 2007

Mutations in the RMRP gene lead to a wide spectrum of autosomal recessive skeletal dysplasias, rangi...

The molecular basis of the cartilage-hair hypoplasia–anauxetic dysplasia spectrum

Thiel, C T
Rauch, A

January 2011

Cartilage-hair hypoplasia and anauxetic dysplasia are two autosomal recessive skeletal dysplasias ch...

Cartilage hair hypoplasia and the RMRP gene

Hermanns, Pia

January 2005

Introduction: Brief overview of Bone Development Disorders of the Skeleton Cartilage-Hair-Hypoplasia...

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations

Bonafe, Luisa
Dermitzakis, Emmanouil
Unger, Sheila
Greenberg, C. R.
Campos-Xavier, B. A.
Zankl, Andreas
Ucla, Catherine
Antonarakis, Stylianos
Superti-Furga, Andrea
Reymond, Alexandre

January 2005

Cartilage-hair hypoplasia (CHH) is a pleiotropic disease caused by recessive mutations in the RMRP g...

Identification of novel and recurrent RMRP variants in a series of Brazilian patients with cartilage-hair hypoplasia: McKusick syndrome

Gomes, Maria E.
Calatrava Paternostro, Luiza
Moura, Valeria R.
Antunes, Deborah
Caffarena, Ernesto R.
Horovitz, Dafne
Sanseverino, Maria T.
Ferraz Leal, Gabriela
Felix, Temis M.
Pontes Cavalcanti, Denise
Clinton Llerena, Juan Jr.
Gonzalez, Sayonara

April 2020

Cartilage-hair hypoplasia syndrome (CHH) is an autosomal recessive disorder caused by pathogenic var...

Supplementary Material for: Novel Mutation and Structural RNA Analysis of the Noncoding RNase <b><i>MRP</i></b> Gene in Cartilage-Hair Hypoplasia

Cherkaoui Jaouad I. (4153702)
Laarabi F.Z. (4153699)
Chafai Elalaoui S. (4153696)
Lyonnet S. (4153690)
Henrion-Caude A. (4153693)
Sefiani A. (4142971)

June 2015

Cartilage-hair hypoplasia (CHH) is an autosomal recessive disorder which is characterized by bone me...

Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation

Steinbusch, Mandy M. F.
Caron, Marjolein M. J.
Surtel, Don A. M.
Friedrich, Franziska
Lausch, Ekkehart
Pruijn, Ger J. M.
Verhesen, Wouter
Schroen, Blanche L. M.
van Rhijn, Lodewijk W.
Zabel, Bernhard
Welting, Tim J. M.

July 2017

Mutations in the RMRP-gene, encoding the lncRNA component of the RNase MRP complex, are the origin o...

Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia

Ridanpää, Maaret
van Eenennaam, Hans
Pelin, Katarina
Chadwick, Robert
Johnson, Cheryl
Yuan, Bo
vanVenrooij, Walther
Pruijn, Ger
Salmela, Riika
Rockas, Susanna
Mäkitie, Outi
Kaitila, Ilkka
de la Chapelle, Albert

January 2001

AbstractThe recessively inherited developmental disorder, cartilage-hair hypoplasia (CHH) is highly ...

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.

February 2002

Mutations in the RMRP gene that codes for an RNA subunit of the MRP RNAse complex are the cause of c...

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.

January 2002

Mutations in the RMRP gene that codes for an RNA subunit of the MRP RNAse complex are the cause of c...

Evolutionary Comparison Provides Evidence for Pathogenicity of <em>RMRP</em> Mutations

Luisa Bonafé (60182)
Emmanouil T Dermitzakis (41446)
Sheila Unger (60183)
Cheryl R Greenberg (60184)
Belinda A Campos-Xavier (60185)
Andreas Zankl (60186)
Catherine Ucla (60187)
Stylianos E Antonarakis (60188)
Andrea Superti-Furga (60189)
Alexandre Reymond (11328)

January 2013

<div><p>Cartilage-hair hypoplasia (CHH) is a pleiotropic disease caused by recessive mutations in th...

Genetic homogeneity of Cartilage-hair hypoplasia

Sulisalo, T.
Burgt, I. van der
Rimoin, D.L.
Bonaventure, J.
Sillence, D.
Campbell, J.B.
Chitayat, D.
Scott, C.I.
Chapella, A. de la
Sistonen, P.
Kaitila, I.

January 1995

Contains fulltext : 22098___.PDF (publisher's version ) (Open Access