Terms: = Bone cancer AND SBDS, SWDS, 51119, ENSG00000126524, FLJ10917, CGI-97, Q9Y3A5
42 results:
1. The metabolic basis of inherited neutropenias.
Oyarbide U; Crane GM; Corey SJ
Br J Haematol; 2024 Jan; 204(1):45-55. PubMed ID: 38049194
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2. Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman-Diamond syndrome cells.
Cipolli M; Boni C; Penzo M; Villa I; Bolamperti S; Baldisseri E; Frattini A; Porta G; Api M; Selicato N; Roccia P; Pollutri D; Marinelli Busilacchi E; Poloni A; Caporelli N; D'Amico G; Pegoraro A; Cesaro S; Oyarbide U; Vella A; Lippi G; Corey SJ; Valli R; Polini A; Bezzerri V
Br J Haematol; 2024 Jan; 204(1):292-305. PubMed ID: 37876306
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3. Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome.
Guijarro F; López-Guerra M; Morata J; Bataller A; Paz S; Cornet-Masana JM; Banús-Mulet A; Cuesta-Casanovas L; Carbó JM; Castaño-Díez S; Jiménez-Vicente C; Cortés-Bullich A; Triguero A; Martínez-Roca A; Esteban D; Gómez-Hernando M; Álamo Moreno JR; López-Oreja I; Garrote M; Risueño RM; Tonda R; Gut I; Colomer D; Díaz-Beya M; Esteve J
Blood Adv; 2023 Oct; 7(19):5799-5811. PubMed ID: 37450374
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4. Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants.
Kawashima N; Oyarbide U; Cipolli M; Bezzerri V; Corey SJ
Haematologica; 2023 Oct; 108(10):2594-2605. PubMed ID: 37226705
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5. Severe congenital neutropenia, SRP54 pathogenicity, and a framework for surveillance.
Fan EM; Vagher J; Meznarich JA; Ubico EM; Goteti S; Peterson D; Rayes A; Maese LD
Am J Med Genet A; 2023 May; 191(5):1434-1441. PubMed ID: 36815775
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6. Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances.
Reilly CR; Shimamura A
Blood; 2023 Mar; 141(13):1513-1523. PubMed ID: 36542827
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7. Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.
Thompson AS; Giri N; Gianferante DM; Jones K; Savage SA; Alter BP; McReynolds LJ
Pediatr Res; 2022 Dec; 92(6):1671-1680. PubMed ID: 35322185
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8. Hematologic complications with age in Shwachman-Diamond syndrome.
Furutani E; Liu S; Galvin A; Steltz S; Malsch MM; Loveless SK; Mount L; Larson JH; Queenan K; Bertuch AA; Fleming MD; Gansner JM; Geddis AE; Hanna R; Keel SB; Lau BW; Lipton JM; Lorsbach R; Nakano TA; Vlachos A; Wang WC; Davies SM; Weller E; Myers KC; Shimamura A
Blood Adv; 2022 Jan; 6(1):297-306. PubMed ID: 34758064
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9. Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome.
Lee S; Shin CH; Lee J; Jeong SD; Hong CR; Kim JD; Kim AR; Park B; Son SJ; Kokhan O; Yoo T; Ko JS; Sohn YB; Kim OH; Ko JM; Cho TJ; Wright NT; Seong JK; Jin SW; Kang HJ; Kim HH; Choi M
Blood; 2021 Nov; 138(21):2117-2128. PubMed ID: 34115847
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10. Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.
Kennedy AL; Myers KC; Bowman J; Gibson CJ; Camarda ND; Furutani E; Muscato GM; Klein RH; Ballotti K; Liu S; Harris CE; Galvin A; Malsch M; Dale D; Gansner JM; Nakano TA; Bertuch A; Vlachos A; Lipton JM; Castillo P; Connelly J; Churpek J; Edwards JR; Hijiya N; Ho RH; Hofmann I; Huang JN; Keel S; Lamble A; Lau BW; Norkin M; Stieglitz E; Stock W; Walkovich K; Boettcher S; Brendel C; Fleming MD; Davies SM; Weller EA; Bahl C; Carter SL; Shimamura A; Lindsley RC
Nat Commun; 2021 Feb; 12(1):1334. PubMed ID: 33637765
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11. Pluripotent stem cell model of Shwachman-Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors.
Hamabata T; Umeda K; Kouzuki K; Tanaka T; Daifu T; Nodomi S; Saida S; Kato I; Baba S; Hiramatsu H; Osawa M; Niwa A; Saito MK; Kamikubo Y; Adachi S; Hashii Y; Shimada A; Watanabe H; Osafune K; Okita K; Nakahata T; Watanabe K; Takita J; Heike T
Sci Rep; 2020 Sep; 10(1):14859. PubMed ID: 32908229
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12. Inflammatory manifestations in patients with Shwachman-Diamond syndrome: A novel phenotype.
Furutani E; Shah AS; Zhao Y; Andorsky D; Dedeoglu F; Geddis A; Zhou Y; Libermann TA; Myers KC; Shimamura A
Am J Med Genet A; 2020 Jul; 182(7):1754-1760. PubMed ID: 32293785
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13. Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study.
Myers KC; Furutani E; Weller E; Siegele B; Galvin A; Arsenault V; Alter BP; Boulad F; Bueso-Ramos C; Burroughs L; Castillo P; Connelly J; Davies SM; DiNardo CD; Hanif I; Ho RH; Karras N; Manalang M; McReynolds LJ; Nakano TA; Nalepa G; Norkin M; Oberley MJ; Orgel E; Pastore YD; Rosenthal J; Walkovich K; Larson J; Malsch M; Elghetany MT; Fleming MD; Shimamura A
Lancet Haematol; 2020 Mar; 7(3):e238-e246. PubMed ID: 31879230
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14. TGFβ signaling underlies hematopoietic dysfunction and bone marrow failure in Shwachman-Diamond Syndrome.
Joyce CE; Saadatpour A; Ruiz-Gutierrez M; Bolukbasi OV; Jiang L; Thomas DD; Young S; Hofmann I; Sieff CA; Myers KC; Whangbo J; Libermann TA; Nusbaum C; Yuan GC; Shimamura A; Novina CD
J Clin Invest; 2019 Jun; 129(9):3821-3826. PubMed ID: 31211692
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15. Shwachman-Diamond Syndrome Protein sbds Maintains Human Telomeres by Regulating Telomerase Recruitment.
Liu Y; Liu F; Cao Y; Xu H; Wu Y; Wu S; Liu D; Zhao Y; Songyang Z; Ma W
Cell Rep; 2018 Feb; 22(7):1849-1860. PubMed ID: 29444436
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16. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
Carapito R; Konantz M; Paillard C; Miao Z; Pichot A; Leduc MS; Yang Y; Bergstrom KL; Mahoney DH; Shardy DL; Alsaleh G; Naegely L; Kolmer A; Paul N; Hanauer A; Rolli V; Müller JS; Alghisi E; Sauteur L; Macquin C; Morlon A; Sancho CS; Amati-Bonneau P; Procaccio V; Mosca-Boidron AL; Marle N; Osmani N; Lefebvre O; Goetz JG; Unal S; Akarsu NA; Radosavljevic M; Chenard MP; Rialland F; Grain A; Béné MC; Eveillard M; Vincent M; Guy J; Faivre L; Thauvin-Robinet C; Thevenon J; Myers K; Fleming MD; Shimamura A; Bottollier-Lemallaz E; Westhof E; Lengerke C; Isidor B; Bahram S
J Clin Invest; 2017 Nov; 127(11):4090-4103. PubMed ID: 28972538
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17. Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome.
Warren AJ
Adv Biol Regul; 2018 Jan; 67():109-127. PubMed ID: 28942353
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18. The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data.
Delaporta P; Sofocleous C; Economou M; Makis A; Kostaridou S; Kattamis A
Pediatr Blood Cancer; 2017 Nov; 64(11):. PubMed ID: 28509441
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19. Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
Keel SB; Scott A; Sanchez-Bonilla M; Ho PA; Gulsuner S; Pritchard CC; Abkowitz JL; King MC; Walsh T; Shimamura A
Haematologica; 2016 Nov; 101(11):1343-1350. PubMed ID: 27418648
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20. Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene.
Nacci L; Valli R; Maria Pinto R; Zecca M; Cipolli M; Morini J; Cesaro S; Boveri E; Rosti V; Corti P; Ambroni M; Pasquali F; Danesino C; Maserati E; Minelli A
Genes Chromosomes Cancer; 2017 Jan; 56(1):51-58. PubMed ID: 27553422
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