When ribosomes go bad: diseases of ribosome biogenesis.

Ribosomes are vital for cell growth and survival. Until recently, it was believed that mutations in ribosomes or ribosome biogenesis factors would be lethal, due to the essential nature of these complexes. However, in the last few decades, a number of diseases of ribosome biogenesis have been discovered. It remains a challenge in the field to elucidate the molecular mechanisms underlying them.

[1]  X. Jacq,et al.  Ribosomal protein S7 is both a regulator and a substrate of MDM2. , 2009, Molecular cell.

[2]  M. Passos-Bueno,et al.  Syndromes of the first and second pharyngeal arches: A review , 2009, American journal of medical genetics. Part A.

[3]  B. Ebert Deletion 5q in myelodysplastic syndrome: a paradigm for the study of hemizygous deletions in cancer , 2009, Leukemia.

[4]  J. Mattick,et al.  Small RNAs derived from snoRNAs. , 2009, RNA.

[5]  L. Wilkinson,et al.  Loss of the imprinted snoRNA mbii-52 leads to increased 5htr2c pre-RNA editing and altered 5HT2CR-mediated behaviour. , 2009, Human molecular genetics.

[6]  K. Entian,et al.  Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. , 2009, American journal of human genetics.

[7]  F. Amaldi,et al.  Synthesis and function of ribosomal proteins – fading models and new perspectives , 2009, The FEBS journal.

[8]  S. Adams,et al.  Bone marrow cells from patients with Shwachman‐Diamond syndrome abnormally express genes involved in ribosome biogenesis and RNA processing , 2009, British journal of haematology.

[9]  Wei Gu,et al.  Modes of p53 Regulation , 2009, Cell.

[10]  R. Hochstenbach,et al.  A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome , 2009, European Journal of Human Genetics.

[11]  Yutao Liu,et al.  The genetics of primary open-angle glaucoma: a review. , 2009, Experimental eye research.

[12]  K. B. McIntosh,et al.  How common are extraribosomal functions of ribosomal proteins? , 2009, Molecular cell.

[13]  I. Dokal,et al.  Advances in the understanding of dyskeratosis congenita , 2009, British journal of haematology.

[14]  S. Ellis,et al.  Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis. , 2009, Hematology/oncology clinics of North America.

[15]  P. Pandolfi,et al.  Absence of nucleolar disruption after impairment of 40S ribosome biogenesis reveals an rpL11-translation-dependent mechanism of p53 induction , 2009, Nature Cell Biology.

[16]  B. McStay,et al.  A Novel Small-Subunit Processome Assembly Intermediate That Contains the U3 snoRNP, Nucleolin, RRP5, and DBP4 , 2009, Molecular and Cellular Biology.

[17]  D. Kaufmann,et al.  Expression analysis of genes lying in the NF1 microdeletion interval points to four candidate modifiers for neurofibroma formation , 2009, neurogenetics.

[18]  A. Chakraborty,et al.  Loss of Ribosomal Protein L11 Affects Zebrafish Embryonic Development through a p53-Dependent Apoptotic Response , 2009, PloS one.

[19]  Alan H Beggs,et al.  Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. , 2008, American journal of human genetics.

[20]  N. Rajewsky,et al.  A human snoRNA with microRNA-like functions. , 2008, Molecular cell.

[21]  I. Dianzani,et al.  A new database for ribosomal protein genes which are mutated in Diamond‐Blackfan Anemia , 2008, Human mutation.

[22]  I. Dianzani,et al.  Diamond-Blackfan anemia: a ribosomal puzzle , 2008, Haematologica.

[23]  A. Chakraborty,et al.  Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemia. , 2008, Human molecular genetics.

[24]  Davide Ruggero,et al.  Suppression of Myc oncogenic activity by ribosomal protein haploinsufficiency , 2008, Nature.

[25]  Eric T. Wang,et al.  Alternative Isoform Regulation in Human Tissue Transcriptomes , 2008, Nature.

[26]  K. Vousden,et al.  Cooperation between the ribosomal proteins L5 and L11 in the p53 pathway , 2008, Oncogene.

[27]  C Conover Talbot,et al.  Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. , 2008, Blood.

[28]  J. Ladenson,et al.  The role of human ribosomal proteins in the maturation of rRNA and ribosome production. , 2008, RNA.

[29]  S. Karlsson,et al.  Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference , 2008, British journal of haematology.

[30]  Christopher Y. Park,et al.  Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects , 2008, Nature Genetics.

[31]  L. Montanaro,et al.  Nucleolus, ribosomes, and cancer. , 2008, The American journal of pathology.

[32]  T. Schlick,et al.  A computational screen for C/D box snoRNAs in the human genomic region associated with Prader-Willi and Angelman syndromes. , 2008, Journal of biomedical science.

[33]  M. Bessler,et al.  A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice , 2008, Proceedings of the National Academy of Sciences.

[34]  M. Cazzola,et al.  Haploinsufficiency of RPS14 in 5q− syndrome is associated with deregulation of ribosomal- and translation-related genes , 2008, British journal of haematology.

[35]  J. Leal,et al.  Loss-of-function genetic screening identifies a cluster of ribosomal proteins regulating p53 function. , 2008, Carcinogenesis.

[36]  T. Vulliamy,et al.  Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita , 2008, Proceedings of the National Academy of Sciences.

[37]  J. Peters Prader-Willi and snoRNAs , 2008, Nature Genetics.

[38]  Marwan Shinawi,et al.  Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster , 2008, Nature Genetics.

[39]  A. Ishida-Yamamoto,et al.  Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis. , 2008, American journal of human genetics.

[40]  P. Gleizes,et al.  Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder. , 2008, Human molecular genetics.

[41]  J. Soudet,et al.  The post-transcriptional steps of eukaryotic ribosome biogenesis , 2008, Cellular and Molecular Life Sciences.

[42]  U. Francke,et al.  SnoRNA Snord116 (Pwcr1/MBII-85) Deletion Causes Growth Deficiency and Hyperphagia in Mice , 2008, PloS one.

[43]  G. Pruijn,et al.  Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly. , 2008, Biochimica et biophysica acta.

[44]  J. Beyene,et al.  SBDS-deficient cells undergo accelerated apoptosis through the Fas-pathway , 2008, Haematologica.

[45]  I. Dokal,et al.  Dyskeratosis Congenita: A historical perspective , 2008, Mechanisms of Ageing and Development.

[46]  N. Zanchin,et al.  The Shwachman-Bodian-Diamond syndrome associated protein interacts with HsNip7 and its down-regulation affects gene expression at the transcriptional and translational levels. , 2007, Experimental cell research.

[47]  Jiri Petrak,et al.  Ribosomal protein S17 gene (RPS17) is mutated in Diamond‐Blackfan anemia , 2007, Human mutation.

[48]  J. Brosius,et al.  Deletion of the MBII-85 snoRNA Gene Cluster in Mice Results in Postnatal Growth Retardation , 2007, PLoS genetics.

[49]  D. Tollervey,et al.  The yeast ribosome synthesis factor Emg1 is a novel member of the superfamily of alpha/beta knot fold methyltransferases , 2007, Nucleic acids research.

[50]  T. Golub,et al.  Identification of RPS14 as a 5q- syndrome gene by RNA interference screen , 2007, Nature.

[51]  I. Dokal,et al.  Dyskeratosis congenita: a genetic disorder of many faces , 2007, Clinical genetics.

[52]  M. Dai,et al.  Feedback Regulation of c-Myc by Ribosomal Protein L11 , 2007, Cell cycle.

[53]  D. Schlessinger,et al.  Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability , 2007, American journal of medical genetics. Part A.

[54]  H. Tschochner,et al.  Analysis of the in vivo assembly pathway of eukaryotic 40S ribosomal proteins. , 2007, Molecular cell.

[55]  A. Richter,et al.  La cirrhose amérindienne infantile , 2007 .

[56]  邓伟平,et al.  Dyskeratosis congenita , 2007 .

[57]  D. Stokoe,et al.  Mechanisms of translational deregulation in human tumors and therapeutic intervention strategies , 2007, Oncogene.

[58]  I. Kaitila,et al.  Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. , 2007, American journal of human genetics.

[59]  Akiko Shimamura,et al.  The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA. , 2007, Blood.

[60]  B. McStay,et al.  Recruitment of factors linking transcription and processing of pre-rRNA to NOR chromatin is UBF-dependent and occurs independent of transcription in human cells. , 2007, Genes & development.

[61]  S. Chanock,et al.  Mutations in the SBDS gene in acquired aplastic anemia. , 2007, Blood.

[62]  W. Wang,et al.  Ribosomal protein S7 as a novel modulator of p53–MDM2 interaction: binding to MDM2, stabilization of p53 protein, and activation of p53 function , 2007, Oncogene.

[63]  M. Dai,et al.  Inhibition of c‐Myc activity by ribosomal protein L11 , 2007, The EMBO journal.

[64]  T. Vulliamy,et al.  Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. , 2007, Human molecular genetics.

[65]  J. Ladenson,et al.  Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production. , 2007, Blood cells, molecules & diseases.

[66]  A. Hinnebusch,et al.  Ribosomal Protein L33 Is Required for Ribosome Biogenesis, Subunit Joining, and Repression of GCN4 Translation , 2007, Molecular and Cellular Biology.

[67]  J. Rain,et al.  Positive regulation of apoptosis by HCA66, a new Apaf-1 interacting protein, and its putative role in the physiopathology of NF1 microdeletion syndrome patients , 2007, Cell Death and Differentiation.

[68]  Javier De Las Rivas,et al.  The 90S Preribosome Is a Multimodular Structure That Is Assembled through a Hierarchical Mechanism , 2007, Molecular and Cellular Biology.

[69]  Michael Costanzo,et al.  The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast , 2007, Nature Genetics.

[70]  Young H. Kwon,et al.  No association between variations in the WDR36 gene and primary open-angle glaucoma. , 2007, Archives of ophthalmology.

[71]  Yong Li,et al.  RNase MRP RNA and human genetic diseases , 2007, Cell Research.

[72]  R. Terns,et al.  Non-coding RNAs: lessons from the small nuclear and small nucleolar RNAs , 2007, Nature Reviews Molecular Cell Biology.

[73]  Gabriele Varani,et al.  The structure and function of small nucleolar ribonucleoproteins , 2007, Nucleic acids research.

[74]  S. Karlsson,et al.  Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. , 2007, Blood.

[75]  Jacqueline Noaillac-Depeyre,et al.  Impaired ribosome biogenesis in Diamond-Blackfan anemia. , 2007, Blood.

[76]  A. Beggs,et al.  Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. , 2006, American journal of human genetics.

[77]  K. Collins,et al.  Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita. , 2006, Genes & development.

[78]  M. Dixon,et al.  Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities , 2006, Proceedings of the National Academy of Sciences.

[79]  J. Rommens,et al.  Loss of the Mouse Ortholog of the Shwachman-Diamond Syndrome Gene (Sbds) Results in Early Embryonic Lethality , 2006, Molecular and Cellular Biology.

[80]  D. Mackey,et al.  A Glaucoma Case-control Study of the WDR36 Gene D658G sequence variant. , 2006, American journal of ophthalmology.

[81]  A. Shimamura Shwachman-Diamond syndrome. , 2006, Seminars in hematology.

[82]  S. Baserga,et al.  The PINc domain protein Utp24, a putative nuclease, is required for the early cleavage steps in 18S rRNA maturation. , 2006, Proceedings of the National Academy of Sciences of the United States of America.

[83]  J. Haines,et al.  Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma. , 2006, Investigative ophthalmology & visual science.

[84]  Wei Xu,et al.  Impaired Control of IRES-Mediated Translation in X-Linked Dyskeratosis Congenita , 2006, Science.

[85]  C. Bishop,et al.  UTP14c Is a Recently Acquired Retrogene Associated with Spermatogenesis and Fertility in Man1 , 2006, Biology of reproduction.

[86]  S. Stamm,et al.  The snoRNA HBII-52 Regulates Alternative Splicing of the Serotonin Receptor 2C , 2006, Science.

[87]  B. Dawson,et al.  Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. , 2005, Human molecular genetics.

[88]  S. Bertolone,et al.  Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis* , 2005, Journal of Biological Chemistry.

[89]  D. Horn,et al.  Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. , 2005, American journal of human genetics.

[90]  M. Takagi,et al.  Regulation of p53 Translation and Induction after DNA Damage by Ribosomal Protein L26 and Nucleolin , 2005, Cell.

[91]  A. Reymond,et al.  Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP Mutations , 2005, PLoS genetics.

[92]  M. Eilers,et al.  Transcriptional regulation and transformation by Myc proteins , 2005, Nature Reviews Molecular Cell Biology.

[93]  M. Butler,et al.  Prader–Willi syndrome: clinical genetics, cytogenetics and molecular biology , 2005, Expert Reviews in Molecular Medicine.

[94]  Michael J Dixon,et al.  The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation. , 2005, Human molecular genetics.

[95]  N. Lindor,et al.  Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature , 2005, Journal of Medical Genetics.

[96]  Edouard Bertrand,et al.  ADAR2-mediated editing of RNA substrates in the nucleolus is inhibited by C/D small nucleolar RNAs , 2005, The Journal of cell biology.

[97]  R. Ritch,et al.  Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. , 2005, Human molecular genetics.

[98]  A. Trumpp,et al.  The Myc trilogy: lord of RNA polymerases , 2005, Nature Cell Biology.

[99]  D. Horn,et al.  Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader–Willi syndrome , 2005, Human Genetics.

[100]  J. Weber,et al.  Nucleolar Adaptation in Human Cancer , 2005, Cancer investigation.

[101]  J. Gallagher,et al.  The Small-Subunit Processome Is a Ribosome Assembly Intermediate , 2004, Eukaryotic Cell.

[102]  M. Dai,et al.  Inhibition of MDM2-mediated p53 Ubiquitination and Degradation by Ribosomal Protein L5* , 2004, Journal of Biological Chemistry.

[103]  J. Gallagher,et al.  RNA polymerase I transcription and pre-rRNA processing are linked by specific SSU processome components. , 2004, Genes & development.

[104]  M. Dai,et al.  Ribosomal Protein L23 Activates p53 by Inhibiting MDM2 Function in Response to Ribosomal Perturbation but Not to Translation Inhibition , 2004, Molecular and Cellular Biology.

[105]  C. Bishop,et al.  The mouse juvenile spermatogonial depletion (jsd) phenotype is due to a mutation in the X-derived retrogene, mUtp14b. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[106]  Michael J Dixon,et al.  The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[107]  S. Kulkarni,et al.  Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[108]  Sander Granneman,et al.  Ribosome biogenesis: of knobs and RNA processing. , 2004, Experimental cell research.

[109]  Nancy Hopkins,et al.  Many Ribosomal Protein Genes Are Cancer Genes in Zebrafish , 2004, PLoS biology.

[110]  M. Dixon,et al.  Genetic background has a major effect on the penetrance and severity of craniofacial defects in mice heterozygous for the gene encoding the nucleolar protein treacle , 2004, Developmental dynamics : an official publication of the American Association of Anatomists.

[111]  M. Schmitt,et al.  RNase MRP Cleaves the CLB2 mRNA To Promote Cell Cycle Progression: Novel Method of mRNA Degradation , 2004, Molecular and Cellular Biology.

[112]  T. Hughes,et al.  High-definition macromolecular composition of yeast RNA-processing complexes. , 2004, Molecular cell.

[113]  T. Allio,et al.  Ribosomal Protein L11 Negatively Regulates Oncoprotein MDM2 and Mediates a p53-Dependent Ribosomal-Stress Checkpoint Pathway , 2003, Molecular and Cellular Biology.

[114]  Brendan J. Frey,et al.  A Panoramic View of Yeast Noncoding RNA Processing , 2003, Cell.

[115]  P. Pandolfi,et al.  Does the ribosome translate cancer? , 2003, Nature Reviews Cancer.

[116]  Francesco Piazza,et al.  Dyskeratosis Congenita and Cancer in Mice Deficient in Ribosomal RNA Modification , 2003, Science.

[117]  T. Hudson,et al.  A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis. , 2002, American journal of human genetics.

[118]  T. Vulliamy,et al.  Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice , 2002, Oncogene.

[119]  Bernhard Kuster,et al.  90S pre-ribosomes include the 35S pre-rRNA, the U3 snoRNP, and 40S subunit processing factors but predominantly lack 60S synthesis factors. , 2002, Molecular cell.

[120]  J. Shabanowitz,et al.  A large nucleolar U3 ribonucleoprotein required for 18S ribosomal RNA biogenesis , 2002, Nature.

[121]  A. Kasprzyk,et al.  Narrowing and genomic annotation of the commonly deleted region of the 5q- syndrome. , 2002, Blood.

[122]  A. Superti-Furga,et al.  RMRP gene sequence analysis confirms a cartilage‐hair hypoplasia variant with only skeletal manifestations and reveals a high density of single‐nucleotide polymorphisms , 2002, Clinical genetics.

[123]  K. Entian,et al.  Nep1p (Emg1p), a novel protein conserved in eukaryotes and archaea, is involved in ribosome biogenesis , 2002, Current Genetics.

[124]  P. Bork,et al.  Functional organization of the yeast proteome by systematic analysis of protein complexes , 2002, Nature.

[125]  D. Thiele,et al.  Novel stress-responsive genes EMG1 and NOP14 encode conserved, interacting proteins required for 40S ribosome biogenesis. , 2001, Molecular biology of the cell.

[126]  A. Hüttenhofer,et al.  The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A. , 2001, Human molecular genetics.

[127]  D. Horn,et al.  Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism , 2001, Journal of medical genetics.

[128]  T. Hudson,et al.  Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. , 2001, American journal of human genetics.

[129]  M. Meguro,et al.  Large-scale evaluation of imprinting status in the Prader-Willi syndrome region: an imprinted direct repeat cluster resembling small nucleolar RNA genes. , 2001, Human molecular genetics.

[130]  A. Chapelle,et al.  Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia , 2001, Cell.

[131]  A. Hüttenhofer,et al.  Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[132]  U. Francke,et al.  Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which Is highly expressed in brain. , 2000, American journal of human genetics.

[133]  T. Hudson,et al.  Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype. , 2000, American journal of human genetics.

[134]  L. Terracciano,et al.  Proliferation, but not growth, blocked by conditional deletion of 40S ribosomal protein S6. , 2000, Science.

[135]  J. Lewis,et al.  Like attracts like: getting RNA processing together in the nucleus. , 2000, Science.

[136]  A. Poustka,et al.  Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome. , 2000, The Journal of pediatrics.

[137]  T. Ito,et al.  Toward a protein-protein interaction map of the budding yeast: A comprehensive system to examine two-hybrid interactions in all possible combinations between the yeast proteins. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[138]  K. Collins,et al.  A telomerase component is defective in the human disease dyskeratosis congenita , 1999, Nature.

[139]  J. Bressler,et al.  Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome. , 1999, Human molecular genetics.

[140]  Peter Gustavsson,et al.  The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia , 1999, Nature Genetics.

[141]  S. Klauck,et al.  X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions , 1998, Nature Genetics.

[142]  Tamás Kiss,et al.  Site-Specific Pseudouridine Formation in Preribosomal RNA Is Guided by Small Nucleolar RNAs , 1997, Cell.

[143]  J. Bachellerie,et al.  Intron-encoded, antisense small nucleolar RNAs: the characterization of nine novel species points to their direct role as guides for the 2'-O-ribose methylation of rRNAs. , 1996, Journal of molecular biology.

[144]  Tamás Kiss,et al.  Site-Specific Ribose Methylation of Preribosomal RNA: A Novel Function for Small Nucleolar RNAs , 1996, Cell.

[145]  Sherif Abou Elela,et al.  RNase III Cleaves Eukaryotic Preribosomal RNA at a U3 snoRNP-Dependent Site , 1996, Cell.

[146]  J. Wasmuth,et al.  Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome , 1996, Nature Genetics.

[147]  C. Sun,et al.  The yeast NOP4 gene product is an essential nucleolar protein required for pre‐rRNA processing and accumulation of 60S ribosomal subunits. , 1994, The EMBO journal.

[148]  D A Clayton,et al.  Nuclear RNase MRP is required for correct processing of pre-5.8S rRNA in Saccharomyces cerevisiae , 1993, Molecular and cellular biology.

[149]  A. Verloes,et al.  Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia. , 1990, Journal of medical genetics.

[150]  D. Chang,et al.  A mammalian mitochondrial RNA processing activity contains nucleus-encoded RNA. , 1987, Science.

[151]  D. Chang,et al.  A novel endoribonuclease cleaves at a priming site of mouse mitochondrial DNA replication. , 1987, The EMBO journal.

[152]  S. Ellis,et al.  Diamond Blackfan anemia: a disorder of red blood cell development. , 2008, Current topics in developmental biology.

[153]  S. Stamm,et al.  Regulation of alternative splicing by snoRNAs. , 2006, Cold Spring Harbor symposia on quantitative biology.

[154]  Robert J. White,et al.  RNA polymerases I and III, growth control and cancer , 2005, Nature Reviews Molecular Cell Biology.

[155]  Claudio Santoro,et al.  Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein. , 2005, Haematologica.

[156]  Johanna M. Rommens,et al.  Mutations in SBDS are associated with Shwachman–Diamond syndrome , 2003, Nature Genetics.

[157]  L. Montanaro,et al.  Increased mortality rate and not impaired ribosomal biogenesis is responsible for proliferative defect in dyskeratosis congenita cell lines. , 2002, The Journal of investigative dermatology.

[158]  J. Warner,et al.  Economics of ribosome biosynthesis. , 2001, Cold Spring Harbor symposia on quantitative biology.