Ribosomopathy (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Ribosomopathy" in English language version.

refsWebsite

Global rank English rank

58nih.gov

4^th place

31doi.org

2^nd place

11omim.org

4,380^th place

4,305^th place

5semanticscholar.org

11^th place

8^th place

1harvard.edu

18^th place

17^th place

doi.org

Nakhoul H, Ke J, Zhou X, Liao W, Zeng SX, Lu H (2014). "Ribosomopathies: mechanisms of disease". Clin Med Insights Blood Disord. 7: 7–16. doi:10.4137/CMBD.S16952. PMC 4251057. PMID 25512719.
Narla A, Ebert BL (April 2010). "Ribosomopathies: human disorders of ribosome dysfunction". Blood. 115 (16): 3196–205. doi:10.1182/blood-2009-10-178129. PMC 2858486. PMID 20194897.
De Keersmaecker K, Sulima SO, Dinman JD (February 2015). "Ribosomopathies and the paradox of cellular hypo- to hyperproliferation". Blood. 125 (9): 1377–82. doi:10.1182/blood-2014-10-569616. PMC 4342353. PMID 25575543.
Ban N, Beckmann R, Cate JH, Dinman JD, Dragon F, Ellis SR, et al. (February 2014). "A new system for naming ribosomal proteins". Curr Opin Struct Biol. 24: 165–9. doi:10.1016/j.sbi.2014.01.002. PMC 4358319. PMID 24524803.
Ruggero D, Shimamura A (October 2014). "Marrow failure: a window into ribosome biology". Blood. 124 (18): 2784–92. doi:10.1182/blood-2014-04-526301. PMC 4215310. PMID 25237201.
Connolly, Martin (2017). "miR-424-5p reduces ribosomal RNA and protein synthesis in muscle wasting". Journal of Cachexia, Sarcopenia and Muscle. 9 (2): 400–416. doi:10.1002/jcsm.12266. PMC 5879973. PMID 29215200.
Stumpf CR, Ruggero D (August 2011). "The cancerous translation apparatus". Curr Opin Genet Dev. 21 (4): 474–83. doi:10.1016/j.gde.2011.03.007. PMC 3481834. PMID 21543223.
Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, et al. (January 2011). "Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome". Nat Genet. 43 (1): 20–2. doi:10.1038/ng.724. PMID 21131976. S2CID 205357102.
Narla A, Hurst SN, Ebert BL (February 2011). "Ribosome defects in disorders of erythropoiesis". Int J Hematol. 93 (2): 144–149. doi:10.1007/s12185-011-0776-0. PMC 3689295. PMID 21279816.
McCann KL, Baserga SJ (August 2013). "Genetics. Mysterious ribosomopathies". Science. 341 (6148): 849–50. doi:10.1126/science.1244156. PMC 3893057. PMID 23970686.
Bolze A, Mahlaoui N, Byun M, Turner B, Trede N, Ellis SR, et al. (May 2013). "Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia". Science. 340 (6135): 976–8. Bibcode:2013Sci...340..976B. doi:10.1126/science.1234864. PMC 3677541. PMID 23579497.
Wong, M. T.; Schölvinck, E. H.; Lambeck, A. J.; Van Ravenswaaij-Arts, C. M. (2015). "CHARGE syndrome: A review of the immunological aspects". European Journal of Human Genetics. 23 (11): 1451–9. doi:10.1038/ejhg.2015.7. PMC 4613462. PMID 25689927.
Martin, D. M. (2015). "Epigenetic Developmental Disorders: CHARGE syndrome, a case study". Current Genetic Medicine Reports. 3 (1): 1–7. doi:10.1007/s40142-014-0059-1. PMC 4325366. PMID 25685640.
Hsu, P; Ma, A; Wilson, M; Williams, G; Curotta, J; Munns, C. F.; Mehr, S (2014). "CHARGE syndrome: A review". Journal of Paediatrics and Child Health. 50 (7): 504–11. doi:10.1111/jpc.12497. PMID 24548020.
Janssen, N; Bergman, J. E.; Swertz, M. A.; Tranebjaerg, L; Lodahl, M; Schoots, J; Hofstra, R. M.; Van Ravenswaaij-Arts, C. M.; Hoefsloot, L. H. (2012). "Mutation update on the CHD7 gene involved in CHARGE syndrome". Human Mutation. 33 (8): 1149–60. doi:10.1002/humu.22086. PMID 22461308. S2CID 36401168.
Gazda HT, Grabowska A, Merida-Long LB, Latawiec E, Schneider HE, Lipton JM, et al. (December 2006). "Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia". Am J Hum Genet. 79 (6): 1110–8. doi:10.1086/510020. PMC 1698708. PMID 17186470.
Cmejla R, Cmejlova J, Handrkova H, Petrak J, Pospisilova D (December 2007). "Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia". Hum Mutat. 28 (12): 1178–82. doi:10.1002/humu.20608. PMID 17647292. S2CID 22482024.
Farrar JE, Nater M, Caywood E, McDevitt MA, Kowalski J, Takemoto CM, et al. (September 2008). "Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia". Blood. 112 (5): 1582–92. doi:10.1182/blood-2008-02-140012. PMC 2518874. PMID 18535205.
Gazda HT, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Schneider H, et al. (December 2008). "Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients". Am J Hum Genet. 83 (6): 769–80. doi:10.1016/j.ajhg.2008.11.004. PMC 2668101. PMID 19061985.
Freed EF, Prieto JL, McCann KL, McStay B, Baserga SJ (2012). "NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing". PLOS Genet. 8 (8): e1002892. doi:10.1371/journal.pgen.1002892. PMC 3420923. PMID 22916032.
Boria I, Garelli E, Gazda HT, Aspesi A, Quarello P, Pavesi E, et al. (December 2010). "The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update". Hum Mutat. 31 (12): 1269–79. doi:10.1002/humu.21383. PMC 4485435. PMID 20960466.
Finch AJ, Hilcenko C, Basse N, Drynan LF, Goyenechea B, Menne TF, et al. (May 2011). "Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome". Genes Dev. 25 (9): 917–29. doi:10.1101/gad.623011. PMC 3084026. PMID 21536732.
Burwick N, Shimamura A, Liu JM (April 2011). "Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome". Semin Hematol. 48 (2): 136–43. doi:10.1053/j.seminhematol.2011.01.002. PMC 3072806. PMID 21435510.
Sondalle SB, Baserga SJ (June 2014). "Human diseases of the SSU processome". Biochim Biophys Acta. 1842 (6): 758–64. doi:10.1016/j.bbadis.2013.11.004. PMC 4058823. PMID 24240090.
De Souza RA (February 2010). "Mystery behind Bowen-Conradi syndrome solved: a novel ribosome biogenesis defect". Clin Genet. 77 (2): 116–8. doi:10.1111/j.1399-0004.2009.01304.x. PMID 20096068. S2CID 140113474.
Armistead J, Khatkar S, Meyer B, Mark BL, Patel N, Coghlan G, et al. (June 2009). "Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome". Am J Hum Genet. 84 (6): 728–39. doi:10.1016/j.ajhg.2009.04.017. PMC 2694972. PMID 19463982.
Armistead J, Patel N, Wu X, Hemming R, Chowdhury B, Basra GS, et al. (May 2015). "Growth arrest in the ribosomopathy, Bowen-Conradi syndrome, is due to dramatically reduced cell proliferation and a defect in mitotic progression". Biochim Biophys Acta. 1852 (5): 1029–37. doi:10.1016/j.bbadis.2015.02.007. PMID 25708872.
Stoffel EM, Eng C (September 2014). "Exome sequencing in familial colorectal cancer: searching for needles in haystacks". Gastroenterology. 147 (3): 554–6. doi:10.1053/j.gastro.2014.07.031. PMID 25075943.
Raiser DM, Narla A, Ebert BL (March 2014). "The emerging importance of ribosomal dysfunction in the pathogenesis of hematologic disorders". Leuk Lymphoma. 55 (3): 491–500. doi:10.3109/10428194.2013.812786. PMID 23863123. S2CID 1259487.
Zhou X, Liao WJ, Liao JM, Liao P, Lu H (April 2015). "Ribosomal proteins: functions beyond the ribosome". J Mol Cell Biol. 7 (2): 92–104. doi:10.1093/jmcb/mjv014. PMC 4481666. PMID 25735597.
Wang W, Nag S, Zhang X, Wang MH, Wang H, Zhou J, Zhang R (March 2015). "Ribosomal proteins and human diseases: pathogenesis, molecular mechanisms, and therapeutic implications". Med Res Rev. 35 (2): 225–85. doi:10.1002/med.21327. PMC 4710177. PMID 25164622.

harvard.edu

ui.adsabs.harvard.edu

Bolze A, Mahlaoui N, Byun M, Turner B, Trede N, Ellis SR, et al. (May 2013). "Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia". Science. 340 (6135): 976–8. Bibcode:2013Sci...340..976B. doi:10.1126/science.1234864. PMC 3677541. PMID 23579497.

nih.gov

pubmed.ncbi.nlm.nih.gov

Nakhoul H, Ke J, Zhou X, Liao W, Zeng SX, Lu H (2014). "Ribosomopathies: mechanisms of disease". Clin Med Insights Blood Disord. 7: 7–16. doi:10.4137/CMBD.S16952. PMC 4251057. PMID 25512719.
Narla A, Ebert BL (April 2010). "Ribosomopathies: human disorders of ribosome dysfunction". Blood. 115 (16): 3196–205. doi:10.1182/blood-2009-10-178129. PMC 2858486. PMID 20194897.
De Keersmaecker K, Sulima SO, Dinman JD (February 2015). "Ribosomopathies and the paradox of cellular hypo- to hyperproliferation". Blood. 125 (9): 1377–82. doi:10.1182/blood-2014-10-569616. PMC 4342353. PMID 25575543.
Ban N, Beckmann R, Cate JH, Dinman JD, Dragon F, Ellis SR, et al. (February 2014). "A new system for naming ribosomal proteins". Curr Opin Struct Biol. 24: 165–9. doi:10.1016/j.sbi.2014.01.002. PMC 4358319. PMID 24524803.
Ruggero D, Shimamura A (October 2014). "Marrow failure: a window into ribosome biology". Blood. 124 (18): 2784–92. doi:10.1182/blood-2014-04-526301. PMC 4215310. PMID 25237201.
Connolly, Martin (2017). "miR-424-5p reduces ribosomal RNA and protein synthesis in muscle wasting". Journal of Cachexia, Sarcopenia and Muscle. 9 (2): 400–416. doi:10.1002/jcsm.12266. PMC 5879973. PMID 29215200.
Stumpf CR, Ruggero D (August 2011). "The cancerous translation apparatus". Curr Opin Genet Dev. 21 (4): 474–83. doi:10.1016/j.gde.2011.03.007. PMC 3481834. PMID 21543223.
Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, et al. (January 2011). "Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome". Nat Genet. 43 (1): 20–2. doi:10.1038/ng.724. PMID 21131976. S2CID 205357102.
Narla A, Hurst SN, Ebert BL (February 2011). "Ribosome defects in disorders of erythropoiesis". Int J Hematol. 93 (2): 144–149. doi:10.1007/s12185-011-0776-0. PMC 3689295. PMID 21279816.
McCann KL, Baserga SJ (August 2013). "Genetics. Mysterious ribosomopathies". Science. 341 (6148): 849–50. doi:10.1126/science.1244156. PMC 3893057. PMID 23970686.
Bolze A, Mahlaoui N, Byun M, Turner B, Trede N, Ellis SR, et al. (May 2013). "Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia". Science. 340 (6135): 976–8. Bibcode:2013Sci...340..976B. doi:10.1126/science.1234864. PMC 3677541. PMID 23579497.
Wong, M. T.; Schölvinck, E. H.; Lambeck, A. J.; Van Ravenswaaij-Arts, C. M. (2015). "CHARGE syndrome: A review of the immunological aspects". European Journal of Human Genetics. 23 (11): 1451–9. doi:10.1038/ejhg.2015.7. PMC 4613462. PMID 25689927.
Martin, D. M. (2015). "Epigenetic Developmental Disorders: CHARGE syndrome, a case study". Current Genetic Medicine Reports. 3 (1): 1–7. doi:10.1007/s40142-014-0059-1. PMC 4325366. PMID 25685640.
Hsu, P; Ma, A; Wilson, M; Williams, G; Curotta, J; Munns, C. F.; Mehr, S (2014). "CHARGE syndrome: A review". Journal of Paediatrics and Child Health. 50 (7): 504–11. doi:10.1111/jpc.12497. PMID 24548020.
Janssen, N; Bergman, J. E.; Swertz, M. A.; Tranebjaerg, L; Lodahl, M; Schoots, J; Hofstra, R. M.; Van Ravenswaaij-Arts, C. M.; Hoefsloot, L. H. (2012). "Mutation update on the CHD7 gene involved in CHARGE syndrome". Human Mutation. 33 (8): 1149–60. doi:10.1002/humu.22086. PMID 22461308. S2CID 36401168.
Gazda HT, Grabowska A, Merida-Long LB, Latawiec E, Schneider HE, Lipton JM, et al. (December 2006). "Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia". Am J Hum Genet. 79 (6): 1110–8. doi:10.1086/510020. PMC 1698708. PMID 17186470.
Cmejla R, Cmejlova J, Handrkova H, Petrak J, Pospisilova D (December 2007). "Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia". Hum Mutat. 28 (12): 1178–82. doi:10.1002/humu.20608. PMID 17647292. S2CID 22482024.
Farrar JE, Nater M, Caywood E, McDevitt MA, Kowalski J, Takemoto CM, et al. (September 2008). "Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia". Blood. 112 (5): 1582–92. doi:10.1182/blood-2008-02-140012. PMC 2518874. PMID 18535205.
Gazda HT, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Schneider H, et al. (December 2008). "Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients". Am J Hum Genet. 83 (6): 769–80. doi:10.1016/j.ajhg.2008.11.004. PMC 2668101. PMID 19061985.
Freed EF, Prieto JL, McCann KL, McStay B, Baserga SJ (2012). "NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing". PLOS Genet. 8 (8): e1002892. doi:10.1371/journal.pgen.1002892. PMC 3420923. PMID 22916032.
Boria I, Garelli E, Gazda HT, Aspesi A, Quarello P, Pavesi E, et al. (December 2010). "The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update". Hum Mutat. 31 (12): 1269–79. doi:10.1002/humu.21383. PMC 4485435. PMID 20960466.
Finch AJ, Hilcenko C, Basse N, Drynan LF, Goyenechea B, Menne TF, et al. (May 2011). "Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome". Genes Dev. 25 (9): 917–29. doi:10.1101/gad.623011. PMC 3084026. PMID 21536732.
Burwick N, Shimamura A, Liu JM (April 2011). "Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome". Semin Hematol. 48 (2): 136–43. doi:10.1053/j.seminhematol.2011.01.002. PMC 3072806. PMID 21435510.
Sondalle SB, Baserga SJ (June 2014). "Human diseases of the SSU processome". Biochim Biophys Acta. 1842 (6): 758–64. doi:10.1016/j.bbadis.2013.11.004. PMC 4058823. PMID 24240090.
De Souza RA (February 2010). "Mystery behind Bowen-Conradi syndrome solved: a novel ribosome biogenesis defect". Clin Genet. 77 (2): 116–8. doi:10.1111/j.1399-0004.2009.01304.x. PMID 20096068. S2CID 140113474.
Armistead J, Khatkar S, Meyer B, Mark BL, Patel N, Coghlan G, et al. (June 2009). "Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome". Am J Hum Genet. 84 (6): 728–39. doi:10.1016/j.ajhg.2009.04.017. PMC 2694972. PMID 19463982.
Armistead J, Patel N, Wu X, Hemming R, Chowdhury B, Basra GS, et al. (May 2015). "Growth arrest in the ribosomopathy, Bowen-Conradi syndrome, is due to dramatically reduced cell proliferation and a defect in mitotic progression". Biochim Biophys Acta. 1852 (5): 1029–37. doi:10.1016/j.bbadis.2015.02.007. PMID 25708872.
Stoffel EM, Eng C (September 2014). "Exome sequencing in familial colorectal cancer: searching for needles in haystacks". Gastroenterology. 147 (3): 554–6. doi:10.1053/j.gastro.2014.07.031. PMID 25075943.
Raiser DM, Narla A, Ebert BL (March 2014). "The emerging importance of ribosomal dysfunction in the pathogenesis of hematologic disorders". Leuk Lymphoma. 55 (3): 491–500. doi:10.3109/10428194.2013.812786. PMID 23863123. S2CID 1259487.
Zhou X, Liao WJ, Liao JM, Liao P, Lu H (April 2015). "Ribosomal proteins: functions beyond the ribosome". J Mol Cell Biol. 7 (2): 92–104. doi:10.1093/jmcb/mjv014. PMC 4481666. PMID 25735597.
Wang W, Nag S, Zhang X, Wang MH, Wang H, Zhou J, Zhang R (March 2015). "Ribosomal proteins and human diseases: pathogenesis, molecular mechanisms, and therapeutic implications". Med Res Rev. 35 (2): 225–85. doi:10.1002/med.21327. PMC 4710177. PMID 25164622.

ncbi.nlm.nih.gov

Nakhoul H, Ke J, Zhou X, Liao W, Zeng SX, Lu H (2014). "Ribosomopathies: mechanisms of disease". Clin Med Insights Blood Disord. 7: 7–16. doi:10.4137/CMBD.S16952. PMC 4251057. PMID 25512719.
Narla A, Ebert BL (April 2010). "Ribosomopathies: human disorders of ribosome dysfunction". Blood. 115 (16): 3196–205. doi:10.1182/blood-2009-10-178129. PMC 2858486. PMID 20194897.
De Keersmaecker K, Sulima SO, Dinman JD (February 2015). "Ribosomopathies and the paradox of cellular hypo- to hyperproliferation". Blood. 125 (9): 1377–82. doi:10.1182/blood-2014-10-569616. PMC 4342353. PMID 25575543.
Ban N, Beckmann R, Cate JH, Dinman JD, Dragon F, Ellis SR, et al. (February 2014). "A new system for naming ribosomal proteins". Curr Opin Struct Biol. 24: 165–9. doi:10.1016/j.sbi.2014.01.002. PMC 4358319. PMID 24524803.
Ruggero D, Shimamura A (October 2014). "Marrow failure: a window into ribosome biology". Blood. 124 (18): 2784–92. doi:10.1182/blood-2014-04-526301. PMC 4215310. PMID 25237201.
"Homo sapiens 28S ribosomal RNA". National Center for Biotechnology Information. 4 February 2017.
"Homo sapiens 5.8S ribosomal RNA". National Center for Biotechnology Information. 10 February 2017.
"Homo sapiens 18S ribosomal RNA". National Center for Biotechnology Information. 4 February 2017.
"Homo sapiens 5S ribosomal RNA". National Center for Biotechnology Information. 3 September 2020.
Connolly, Martin (2017). "miR-424-5p reduces ribosomal RNA and protein synthesis in muscle wasting". Journal of Cachexia, Sarcopenia and Muscle. 9 (2): 400–416. doi:10.1002/jcsm.12266. PMC 5879973. PMID 29215200.
Stumpf CR, Ruggero D (August 2011). "The cancerous translation apparatus". Curr Opin Genet Dev. 21 (4): 474–83. doi:10.1016/j.gde.2011.03.007. PMC 3481834. PMID 21543223.
Narla A, Hurst SN, Ebert BL (February 2011). "Ribosome defects in disorders of erythropoiesis". Int J Hematol. 93 (2): 144–149. doi:10.1007/s12185-011-0776-0. PMC 3689295. PMID 21279816.
McCann KL, Baserga SJ (August 2013). "Genetics. Mysterious ribosomopathies". Science. 341 (6148): 849–50. doi:10.1126/science.1244156. PMC 3893057. PMID 23970686.
Bolze A, Mahlaoui N, Byun M, Turner B, Trede N, Ellis SR, et al. (May 2013). "Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia". Science. 340 (6135): 976–8. Bibcode:2013Sci...340..976B. doi:10.1126/science.1234864. PMC 3677541. PMID 23579497.
Wong, M. T.; Schölvinck, E. H.; Lambeck, A. J.; Van Ravenswaaij-Arts, C. M. (2015). "CHARGE syndrome: A review of the immunological aspects". European Journal of Human Genetics. 23 (11): 1451–9. doi:10.1038/ejhg.2015.7. PMC 4613462. PMID 25689927.
Martin, D. M. (2015). "Epigenetic Developmental Disorders: CHARGE syndrome, a case study". Current Genetic Medicine Reports. 3 (1): 1–7. doi:10.1007/s40142-014-0059-1. PMC 4325366. PMID 25685640.
Gazda HT, Grabowska A, Merida-Long LB, Latawiec E, Schneider HE, Lipton JM, et al. (December 2006). "Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia". Am J Hum Genet. 79 (6): 1110–8. doi:10.1086/510020. PMC 1698708. PMID 17186470.
Farrar JE, Nater M, Caywood E, McDevitt MA, Kowalski J, Takemoto CM, et al. (September 2008). "Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia". Blood. 112 (5): 1582–92. doi:10.1182/blood-2008-02-140012. PMC 2518874. PMID 18535205.
Gazda HT, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Schneider H, et al. (December 2008). "Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients". Am J Hum Genet. 83 (6): 769–80. doi:10.1016/j.ajhg.2008.11.004. PMC 2668101. PMID 19061985.
Freed EF, Prieto JL, McCann KL, McStay B, Baserga SJ (2012). "NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing". PLOS Genet. 8 (8): e1002892. doi:10.1371/journal.pgen.1002892. PMC 3420923. PMID 22916032.
Boria I, Garelli E, Gazda HT, Aspesi A, Quarello P, Pavesi E, et al. (December 2010). "The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update". Hum Mutat. 31 (12): 1269–79. doi:10.1002/humu.21383. PMC 4485435. PMID 20960466.
Finch AJ, Hilcenko C, Basse N, Drynan LF, Goyenechea B, Menne TF, et al. (May 2011). "Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome". Genes Dev. 25 (9): 917–29. doi:10.1101/gad.623011. PMC 3084026. PMID 21536732.
Burwick N, Shimamura A, Liu JM (April 2011). "Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome". Semin Hematol. 48 (2): 136–43. doi:10.1053/j.seminhematol.2011.01.002. PMC 3072806. PMID 21435510.
Sondalle SB, Baserga SJ (June 2014). "Human diseases of the SSU processome". Biochim Biophys Acta. 1842 (6): 758–64. doi:10.1016/j.bbadis.2013.11.004. PMC 4058823. PMID 24240090.
Armistead J, Khatkar S, Meyer B, Mark BL, Patel N, Coghlan G, et al. (June 2009). "Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome". Am J Hum Genet. 84 (6): 728–39. doi:10.1016/j.ajhg.2009.04.017. PMC 2694972. PMID 19463982.
Zhou X, Liao WJ, Liao JM, Liao P, Lu H (April 2015). "Ribosomal proteins: functions beyond the ribosome". J Mol Cell Biol. 7 (2): 92–104. doi:10.1093/jmcb/mjv014. PMC 4481666. PMID 25735597.
Wang W, Nag S, Zhang X, Wang MH, Wang H, Zhou J, Zhang R (March 2015). "Ribosomal proteins and human diseases: pathogenesis, molecular mechanisms, and therapeutic implications". Med Res Rev. 35 (2): 225–85. doi:10.1002/med.21327. PMC 4710177. PMID 25164622.

omim.org

Online Mendelian Inheritance in Man. OMIM entry 305000: Dyskeratosis congenita, X–linked; DKCX. Johns Hopkins University. [1]
Online Mendelian Inheritance in Man. OMIM entry 271400: Asplenia, isolated congenital; ICAS. Johns Hopkins University. [2]
Online Mendelian Inheritance in Man. OMIM entry 150370: Ribosomal protein SA; RPSA. Johns Hopkins University. [3]
612079
Online Mendelian Inheritance in Man. OMIM entry 105650: Diamond-Blackfan anemia. Johns Hopkins University. [4]
Online Mendelian Inheritance in Man. OMIM entry 603632: Ribosomal protein S10; RPS10. Johns Hopkins University. [5]
Online Mendelian Inheritance in Man. OMIM entry 603701: Ribosomal protein S26; RPS26. Johns Hopkins University. [6]
Online Mendelian Inheritance in Man. OMIM entry 604174: Ribosomal protein L15; RPL15. Johns Hopkins University. [7]
300126
Online Mendelian Inheritance in Man. OMIM entry 211180: XXX. Johns Hopkins University. [8]
Online Mendelian Inheritance in Man. OMIM entry 611531: Essential for mitotic growth 1, S. cervevisiae, Homolog of; EMG1. Johns Hopkins University. [9]

semanticscholar.org

api.semanticscholar.org

Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, et al. (January 2011). "Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome". Nat Genet. 43 (1): 20–2. doi:10.1038/ng.724. PMID 21131976. S2CID 205357102.
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