4ug0: Difference between revisions

<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4ug0 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4ug0 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=4ug0 RCSB], [http://www.ebi.ac.uk/pdbsum/4ug0 PDBsum]</span></td></tr>

</table>

== Disease ==

[[http://www.uniprot.org/uniprot/RL5_HUMAN RL5_HUMAN]] Blackfan-Diamond disease. Diamond-Blackfan anemia 6 (DBA6) [MIM:[http://omim.org/entry/612561 612561]]: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:19061985</ref> <ref>PMID:19191325</ref>  [[http://www.uniprot.org/uniprot/RL26_HUMAN RL26_HUMAN]] Diamond-Blackfan anemia 11 (DBA11) [MIM:[http://omim.org/entry/614900 614900]]: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:22431104</ref>  [[http://www.uniprot.org/uniprot/RL7A_HUMAN RL7A_HUMAN]] Note=Chromosomal recombination involving RPL7A activates the receptor kinase domain of the TRK oncogene. [[http://www.uniprot.org/uniprot/RS24_HUMAN RS24_HUMAN]] Blackfan-Diamond disease. Diamond-Blackfan anemia 3 (DBA3) [MIM:[http://omim.org/entry/610629 610629]]: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:17186470</ref>  [[http://www.uniprot.org/uniprot/RS10_HUMAN RS10_HUMAN]] Blackfan-Diamond disease. Diamond-Blackfan anemia 9 (DBA9) [MIM:[http://omim.org/entry/613308 613308]]: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:20116044</ref>  [[http://www.uniprot.org/uniprot/RS26_HUMAN RS26_HUMAN]] Blackfan-Diamond disease. Diamond-Blackfan anemia 10 (DBA10) [MIM:[http://omim.org/entry/613309 613309]]: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:20116044</ref>  [[http://www.uniprot.org/uniprot/RS14_HUMAN RS14_HUMAN]] Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality.  [[http://www.uniprot.org/uniprot/RS19_HUMAN RS19_HUMAN]] Blackfan-Diamond disease. Diamond-Blackfan anemia 1 (DBA1) [MIM:[http://omim.org/entry/105650 105650]]: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:17517689</ref> <ref>PMID:12586610</ref> <ref>PMID:9988267</ref> <ref>PMID:10590074</ref> <ref>PMID:11112378</ref> <ref>PMID:12750732</ref> <ref>PMID:15384984</ref> [REFERENCE:18] [[http://www.uniprot.org/uniprot/RS7_HUMAN RS7_HUMAN]] Blackfan-Diamond disease. Diamond-Blackfan anemia 8 (DBA8) [MIM:[http://omim.org/entry/612563 612563]]: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:19061985</ref>  [[http://www.uniprot.org/uniprot/RL21_HUMAN RL21_HUMAN]] Hypotrichosis simplex. Note=Defects in RPL21 are a cause of generalized hypotrichosis simplex (HTS). A rare form of non-syndromic hereditary hypotrichosis without characteristic hair shaft anomalies. Affected individuals typically show normal hair at birth, but hair loss and thinning of the hair shaft start during early childhood and progress with age.<ref>PMID:21412954</ref>  [[http://www.uniprot.org/uniprot/RL11_HUMAN RL11_HUMAN]] Blackfan-Diamond disease. Diamond-Blackfan anemia 7 (DBA7) [MIM:[http://omim.org/entry/612562 612562]]: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:19061985</ref> <ref>PMID:19191325</ref>  [[http://www.uniprot.org/uniprot/RL35A_HUMAN RL35A_HUMAN]] Blackfan-Diamond disease. Diamond-Blackfan anemia 5 (DBA5) [MIM:[http://omim.org/entry/612528 612528]]: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:18535205</ref>