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Development
of cellular models for ribosomal protein S19 (RPS19)-deficient
diamond-blackfan anemia using inducible expression of siRNA against
RPS19.
Miyake K, Flygare J, Kiefer T, Utsugiawa T, Richter J, Ma Z, Wiznerowicz,
Trono D, Karlsson S
Mol Ther. 2005 Apr.11(4):627-37 PMID: 15771965 [PubMed – in
progress]
Central venous
catheter thromosis as a cause of SVC obstruction and
cardiac tamponade in a patient with Diamond-Blackfan anemia and
iron overload.
Norris ML, Klaassen R Pediatr Blood Cancer. 2005 Mar 14: [Epub ahead
of print]
PMID: 15768384 [PubMed – as supplied by publisher]
An RNA interference
model of RPS19 deficiency in Diamond-Blackfan Anemia
recapitulates defective hematopoieses and rescue by dexamethasone:
identification of dexamethasone responsive genes by microarray.
Ebert BL, LeeMM, Pretz JL, Subramanian A, Mak R, Golub
TR, Sieff CA
Blood. 2005 Mar 8: [Epub ahead of print]
PMID: 15755903 [PubMed – as supplied by publisher]
Pediatric red
cell disorders and pure red cell aplasia.
Perkins SL
Am J Clin Pathol. 2004 Dec: 122 Suppl:S70-86. Review.
PMID: 15690644 [PubMed – indexed for MEDLINE]
Gene Symbol:
RPS19. Disease: Diamond-Blackfan anemia.
Goncalves P, Pereira JC, Kidd AM, Ribeiro ML
Hum Genet. 2004 Nov:115(6):534. No abstract available.
PMID: 15678589 [PubMed – indexed for MEDLINE]
Deficiency of
ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid
development
and mimics defects seen in Diamond-Blackfan anemia.
Flygare J, Kiefer T, Miyake K, Utsugisawa T, Hamaguchi I,
Da Costa L, Richter J, Davev EJ, Matsson H, Dahl N,
Wiznerowicz M, Trono D, Karlsson S
Blood: 2004 Dec 30:[Epub ahead of print]
PMID: 15626736 [PubMed – as supplied by publisher]
Postmortem diagnosis
of Diamond-Blackfan anemia.
Beauchamp-Nicoud A, Da Costa L, Proust A, Rince P, Saker S, Tchernia
G
J Pediatr Hematol Oncol. 2004 Dec:26(12):847-8.
PMID:15591911 [PubMed – indexed for MEDLINE]
Marrow failure.
Bagby GC, Lipton JM, Sloand EM, Schiffer CA
Hematology (Am Soc Hematol Educ Program). 2004;:318-36
PMID: 15561690 [PubMed – in progress]
Elevated thrombopoietin
levels and alterations in the sequence of its receptor, c-Mpl. In
patients with
Diamond-Blackfan anemia.
Pospisilova D, Cmejlova J, Slavik L, Cmejla R
Haematologica. 2004 Nov:89(11): 1391-2
PMID:15531462 [PubMed – in progress]
Diamond-Blackfan
anemia responding to valproic acis.
Jabr FI, Aoun E, Azar C, Taher A
Blood. 2004 Nov 15;104(10):3415. No abstract available.
PMID:15525842 [PubMed – indexed for MEDLINE]
Nonsence-medicated
and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan
anemia.
Chatr-Aryamontri A, Angelini M, Garelli E, Tchernia G,
Ramenghi U, Dianzani I, Loreni F
Hum Mutat. 2004 Dec; 24(6):526-33
PMID: 15523650 [PubMed – in progress]
Successful transplantation
of CD34+ selected peripheral blood stem from an unrelated donor
in an
adult patient with Diamond-Blackfan anemia and secondary hemochromatosis.
Berndt A, Helwig A, Ehninger G, Bornhauser M
Bone Marrow Transplant. 2005 Jan;35(1):99-100. No
abstract available.
PMID: 15516941 [PubMed – in progress]
RNA and protein evidence for haplo-insufficiency
in Diamond-Blackfan anemia patients with RPSI mutations.
Gaza HT, Zhong R, Long L, Miewiadomska E, Lipton JM,
Ploszynska A, zaucha JM, Vlachos A, Atsidaftos E, Viskochil
DH, Niemever CM, Meerpohl JJ, Rokicka-Milewska R,
Pospisilova D, Wiktor-Jedrzejczak W, Nathan DG, Beggs AH,
Sieff CA
Br J Haematol. 2004 Oct;127(1):105-13.
PMID: 15384984 {PubMed – indexed for MEDLINE]
Growth hormone therapy for short
stature in Diamond-Blackfan anemia.
Scott EG, Haider A, hord J
Pediatr Blood Cancer. 2004 Oct;43(5):542-4.
PMID: 15382270 [PubMed – indexed for MEDLINE]
Couple allowed to select an embryo
to save sibling.
Dyer C
BMJ. 2004 Sep 11;329(7466):592. No abstract available.
PMID: 15361442 {PubMed – indexed for MEDLINE]
Two-phase culture in Diamond Blackfan
anemia: localization of erythroid defect.
Ohene-Abuakwa Y, Orfali KA, Marius C, Ball SE
Blood. 2005 Jan 15;105(2):838-46. Epub 2004 Jul 6.
PMID: 15238419 [PubMed – indexed for MEDLINE]
Successful nonmyeloablative bone marrow transplantation
in a corticosteroid-resistant infant
with Diamond-Blackfan anemia.
Ostronoff M, Florencio R, Campos G, Arruda S, Matias C,
Florencio M, Domingues M, Maior AP, Sucupire A, Calixto R,
Tagliari C, Matias K
Bone Marrow Transplant. 2004 Aug;34(4):371-2. No abstract
available.
PMID: 15220956 [PubMed – in progress]
Preimplantation HLA testing.
Verlinsky Y, Rechitsky S, Sharapova T, Morris R, Taranissi M,
Kuliev A
JAMA. 2004 May 5;291(17):2079-85.
PMID: 15126435 {PubMed – indexed for MEDLINE]
Targeted disruption of the ribosomal
protein S19 gene is lethal prior to implantation.
Matsson H, Davey EJ, Draptchinskaia N, Hamaguchi I, Ooka
A, Leveen P, Forsberg E, Karlsson S, Dahl N
Mol Cell Biol. 2004 May;24(9):4032-7.
PMID:15082795 [PubMed – indexed for MEDLINE]
Molecular basis of Diamond-Blackfan anemia:
new findings from the Italian registry and a review of the literature.
Campagnoli MF, Garelli E, Quarello P, Carando A, Varotto S,
Nobili B, Longoni D, Pecile V, Zecca M, Dufour C, Ramenghi
U, Dianzan I Haematologica. 2004 Apr;89(4):480-9.
PMID: 15075082 [PubMed – in progress] |
