Detalhe da pesquisa
1.
Human anti-smallpox long-lived memory B cells are defined by dynamic interactions in the splenic niche and long-lasting germinal center imprinting.
Immunity
; 55(10): 1872-1890.e9, 2022 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36130603
2.
Genetics of human telomere biology disorders.
Nat Rev Genet
; 24(2): 86-108, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36151328
3.
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.
Hum Mol Genet
; 33(7): 612-623, 2024 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38176734
4.
Somatic genetic rescue in Mendelian haematopoietic diseases.
Nat Rev Genet
; 20(10): 582-598, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31186537
5.
Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects.
Blood
; 139(16): 2427-2440, 2022 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35007328
6.
Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue.
Blood
; 139(7): 1039-1051, 2022 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34767620
7.
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.
Hum Mol Genet
; 29(6): 907-922, 2020 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31985013
8.
Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study.
Respiration
; 101(6): 531-543, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35078193
9.
Full length RTEL1 is required for the elongation of the single-stranded telomeric overhang by telomerase.
Nucleic Acids Res
; 48(13): 7239-7251, 2020 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32542379
10.
EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.
Blood
; 134(3): 277-290, 2019 07 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-31151987
11.
PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects.
J Allergy Clin Immunol
; 143(1): 325-334.e2, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29906526
12.
Mutations in XLF/NHEJ1/Cernunnos gene results in downregulation of telomerase genes expression and telomere shortening.
Hum Mol Genet
; 26(10): 1900-1914, 2017 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28369633
13.
Regulator of telomere length 1 (RTEL1) mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypes.
Eur Respir J
; 53(2)2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30523160
14.
Myelodysplastic syndromes and idiopathic pulmonary fibrosis: a dangerous liaison.
Respir Res
; 20(1): 182, 2019 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31409344
15.
EFL1 deficiency: a little is better than nothing.
Blood
; 138(21): 2016-2018, 2021 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34821936
16.
Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis.
Eur Respir J
; 49(5)2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28495692
17.
Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA.
Nucleic Acids Res
; 43(3): 1834-47, 2015 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-25628358
18.
Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain.
Hum Mutat
; 37(5): 469-72, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26847928
19.
Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis.
Eur Respir J
; 48(6): 1721-1731, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27836952
20.
An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation.
J Allergy Clin Immunol
; 136(6): 1619-1626.e5, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26220525