86 related articles for article (PubMed ID: 20004881)
1. Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.
Volpi L; Roversi G; Colombo EA; Leijsten N; Concolino D; Calabria A; Mencarelli MA; Fimiani M; Macciardi F; Pfundt R; Schoenmakers EF; Larizza L
Am J Hum Genet; 2010 Jan; 86(1):72-6. PubMed ID: 20004881
[TBL] [Abstract][Full Text] [Related]
2. Clericuzio-type poikiloderma with neutropenia and leg ulceration.
Al Haddabi A; Mufti G; du Vivier A; Basu TN
JAAD Case Rep; 2024 Jun; 48():26-29. PubMed ID: 38741660
[No Abstract] [Full Text] [Related]
3. Association of neutrophil defects with oral ulcers but undetermined role of neutrophils in recurrent aphthous stomatitis.
Choi Y
Heliyon; 2024 Mar; 10(5):e26740. PubMed ID: 38439826
[TBL] [Abstract][Full Text] [Related]
4. Pre-mRNA splicing-associated diseases and therapies.
Love SL; Emerson JD; Koide K; Hoskins AA
RNA Biol; 2023 Jan; 20(1):525-538. PubMed ID: 37528617
[TBL] [Abstract][Full Text] [Related]
5. USB1 is a miRNA deadenylase that regulates hematopoietic development.
Jeong HC; Shukla S; Fok WC; Huynh TN; Batista LFZ; Parker R
Science; 2023 Mar; 379(6635):901-907. PubMed ID: 36862787
[TBL] [Abstract][Full Text] [Related]
6. Autosomal recessive diseases among the Athabaskans of the southwestern United States: anthropological, medical, and scientific aspects.
Erickson RP
J Appl Genet; 2021 Sep; 62(3):445-453. PubMed ID: 33880741
[TBL] [Abstract][Full Text] [Related]
7. Structural basis for the evolution of cyclic phosphodiesterase activity in the U6 snRNA exoribonuclease Usb1.
Nomura Y; Montemayor EJ; Virta JM; Hayes SM; Butcher SE
Nucleic Acids Res; 2020 Feb; 48(3):1423-1434. PubMed ID: 31832688
[TBL] [Abstract][Full Text] [Related]
8. RNA ligation precedes the retrotransposition of U6/LINE-1 chimeric RNA.
Moldovan JB; Wang Y; Shuman S; Mills RE; Moran JV
Proc Natl Acad Sci U S A; 2019 Oct; 116(41):20612-20622. PubMed ID: 31548405
[TBL] [Abstract][Full Text] [Related]
9. Neutropenia in the age of genetic testing: Advances and challenges.
Furutani E; Newburger PE; Shimamura A
Am J Hematol; 2019 Mar; 94(3):384-393. PubMed ID: 30536760
[TBL] [Abstract][Full Text] [Related]
10. Structural and mechanistic basis for preferential deadenylation of U6 snRNA by Usb1.
Nomura Y; Roston D; Montemayor EJ; Cui Q; Butcher SE
Nucleic Acids Res; 2018 Nov; 46(21):11488-11501. PubMed ID: 30215753
[TBL] [Abstract][Full Text] [Related]
11. Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants.
Colombo EA; Elcioglu NH; Graziano C; Farinelli P; Di Fede E; Neri I; Facchini E; Greco M; Gervasini C; Larizza L
J Clin Immunol; 2018 May; 38(4):494-502. PubMed ID: 29770900
[TBL] [Abstract][Full Text] [Related]
12. The Role of Genetic Testing in Hereditary Poikiloderma: A Case Report.
El-Heis S; Godfrey KM
Glob Pediatr Health; 2017; 4():2333794X17715840. PubMed ID: 28695158
[No Abstract] [Full Text] [Related]
13. Poikiloderma with Neutropenia in Morocco: a Report of Four Cases.
Aglaguel A; Abdelghaffar H; Ailal F; Habti N; Hesse S; Kohistani N; Klein C; Bousfiha AA
J Clin Immunol; 2017 May; 37(4):357-362. PubMed ID: 28353165
[TBL] [Abstract][Full Text] [Related]
14. Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations.
Colombo EA; Spaccini L; Volpi L; Negri G; Cittaro D; Lazarevic D; Zirpoli S; Farolfi A; Gervasini C; Cubellis MV; Larizza L
Orphanet J Rare Dis; 2016 Oct; 11(1):136. PubMed ID: 27717396
[TBL] [Abstract][Full Text] [Related]
15. The pathogenicity of splicing defects: mechanistic insights into pre-mRNA processing inform novel therapeutic approaches.
Daguenet E; Dujardin G; Valcárcel J
EMBO Rep; 2015 Dec; 16(12):1640-55. PubMed ID: 26566663
[TBL] [Abstract][Full Text] [Related]
16. A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor.
Colombo EA; Carra S; Fontana L; Bresciani E; Cotelli F; Larizza L
Sci Rep; 2015 Nov; 5():15814. PubMed ID: 26522474
[TBL] [Abstract][Full Text] [Related]
17. Dental management of Rothmund-Thomson syndrome with partial anodontia.
Rathi NV; Bhattad MS; Thosar N; Baliga S
BMJ Case Rep; 2015 Jun; 2015():. PubMed ID: 26032705
[TBL] [Abstract][Full Text] [Related]
18. Incomplete splicing of neutrophil-specific genes affects neutrophil development in a zebrafish model of poikiloderma with neutropenia.
Patil P; Uechi T; Kenmochi N
RNA Biol; 2015; 12(4):426-34. PubMed ID: 25849198
[TBL] [Abstract][Full Text] [Related]
19. Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease.
Gerstberger S; Hafner M; Ascano M; Tuschl T
Adv Exp Med Biol; 2014; 825():1-55. PubMed ID: 25201102
[TBL] [Abstract][Full Text] [Related]
20. A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle.
Sartelet A; Stauber T; Coppieters W; Ludwig CF; Fasquelle C; Druet T; Zhang Z; Ahariz N; Cambisano N; Jentsch TJ; Charlier C
Dis Model Mech; 2014 Jan; 7(1):119-28. PubMed ID: 24159188
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
