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| rdf:type
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| Description
| - Ribosomal protein S19 (RPS19) is currently the only gene associated with Diamond-Blackfan anemia (DBA), a rare congenital pure red cell aplasia characterized by normochromic macrocytic anemia, reticulocytopenia, and normocellular bone marrow with a selective deficiency of erythroid precursors. RPS19 is mutated in 25% of DBA patients, but its role in DBA pathogenesis remains elusive. We have identified a novel heterozygous microdeletion in RPS19 in a DBA patient presenting with profound anemia after birth. The deletion of 18 nucleotides (233-250; A in start codon is +1) in exon 4 leads to the elimination of 6 amino acids 78IYGGRQ83, affecting the most conserved stretch of three amino acids (YGG) in RPS19. The mutated allele was not detected in the patient's family members, indicating de novo mutation. Both alleles were expressed at the same level. Using an immunofluorescence technique, the mutated RPS19 protein localized to nucleoli, and its intracellular distribution did not differ fro
- Ribosomal protein S19 (RPS19) is currently the only gene associated with Diamond-Blackfan anemia (DBA), a rare congenital pure red cell aplasia characterized by normochromic macrocytic anemia, reticulocytopenia, and normocellular bone marrow with a selective deficiency of erythroid precursors. RPS19 is mutated in 25% of DBA patients, but its role in DBA pathogenesis remains elusive. We have identified a novel heterozygous microdeletion in RPS19 in a DBA patient presenting with profound anemia after birth. The deletion of 18 nucleotides (233-250; A in start codon is +1) in exon 4 leads to the elimination of 6 amino acids 78IYGGRQ83, affecting the most conserved stretch of three amino acids (YGG) in RPS19. The mutated allele was not detected in the patient's family members, indicating de novo mutation. Both alleles were expressed at the same level. Using an immunofluorescence technique, the mutated RPS19 protein localized to nucleoli, and its intracellular distribution did not differ fro (en)
- Ribosomální protein S19 (RPS19) je v současnosti jediný gen asociovaný s Diamondovou-Blackfanovou anémii, vzácnou kongenitální aplázií červených krvinek, která je charakterizována normochromní makrocytární anémií, reticulocytopénií a normocelulární kostní dření se selektivní deficiencí erytroidních prekurzorů. RPS19 je mutován u 25% pacientů s DBA, ale jeho role v patogenezi DBA zůstává zatím nevyjasněna. Identifikovali jsme novou heterozygotní mikrodeleci v RPS19 u pacientky s DBA, která vykazovala těžkou anémii už při narození. Delece 18 nukleotidů (233-250; A ve start kodonu je +1) v exonu 4 vede k eliminaci 6 aminokyselin 78IYGGRQ83, takže dochází k postižení nejkonzervovanějšího úseku tří aminokyselin v RPS19 (YGG). Mutovaná alela nebyla nalezena u dalších rodinných příslušníků, což indikuje mutaci de novo. Obě alely byly exprimovány se stejnou účinností. Pomocí imunofluorescenční techniky jsme prokázali, že se mutovaný protein RPS19 lokalizuje do jadérka a jeho intracelulární dis (cs)
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| Title
| - Identification of a new in-frame deletion of six amino acids in ribosomal protein S19 in a patient with Diamond-Blackfan anemia
- Identification of a new in-frame deletion of six amino acids in ribosomal protein S19 in a patient with Diamond-Blackfan anemia (en)
- Identifikace nové delece šesti aminokyselin zachovávající čtecí rámec v ribosomálním proteinu S19 u pacientky s Diamondovou-Blackfanovou anémií (cs)
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| skos:prefLabel
| - Identification of a new in-frame deletion of six amino acids in ribosomal protein S19 in a patient with Diamond-Blackfan anemia
- Identification of a new in-frame deletion of six amino acids in ribosomal protein S19 in a patient with Diamond-Blackfan anemia (en)
- Identifikace nové delece šesti aminokyselin zachovávající čtecí rámec v ribosomálním proteinu S19 u pacientky s Diamondovou-Blackfanovou anémií (cs)
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| skos:notation
| - RIV/00023736:_____/06:00006720!RIV09-MZ0-00023736
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| http://linked.open...avai/riv/aktivita
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| http://linked.open...avai/riv/aktivity
| - P(GP301/04/P199), Z(MZ0UHKT2005)
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| http://linked.open...iv/cisloPeriodika
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| http://linked.open...vai/riv/dodaniDat
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| http://linked.open...aciTvurceVysledku
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| http://linked.open.../riv/druhVysledku
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| http://linked.open...iv/duvernostUdaju
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| http://linked.open...titaPredkladatele
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| http://linked.open...dnocenehoVysledku
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| http://linked.open...ai/riv/idVysledku
| - RIV/00023736:_____/06:00006720
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| http://linked.open...riv/jazykVysledku
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| http://linked.open.../riv/klicovaSlova
| - Diamond-Blackfan anemia; DBA; ribosomal protein S19; RPS19; mutation (en)
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| http://linked.open.../riv/klicoveSlovo
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| http://linked.open...odStatuVydavatele
| - US - Spojené státy americké
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| http://linked.open...ontrolniKodProRIV
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| http://linked.open...i/riv/nazevZdroje
| - Blood Cells, Molecules and Diseases
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| http://linked.open...in/vavai/riv/obor
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| http://linked.open...ichTvurcuVysledku
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| http://linked.open...cetTvurcuVysledku
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| http://linked.open...vavai/riv/projekt
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| http://linked.open...UplatneniVysledku
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| http://linked.open...v/svazekPeriodika
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| http://linked.open...iv/tvurceVysledku
| - Pospíšilová, D.
- Černá, Z.
- Čmejla, Radek
- Čmejlová, Jana
- Votava, T.
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| http://linked.open...n/vavai/riv/zamer
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| issn
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| number of pages
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| is http://linked.open...avai/riv/vysledek
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