Detalhe da pesquisa
1.
Unique and Shared Epigenetic Programs of the CREBBP and EP300 Acetyltransferases in Germinal Center B Cells Reveal Targetable Dependencies in Lymphoma.
Immunity
; 51(3): 535-547.e9, 2019 09 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31519498
2.
Super-enhancer hypermutation alters oncogene expression in B cell lymphoma.
Nature
; 607(7920): 808-815, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35794478
3.
Author Correction: Super-enhancer hypermutation alters oncogene expression in B cell lymphoma.
Nature
; 611(7934): E2, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36253470
4.
Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families.
Cytogenet Genome Res
; 157(4): 189-196, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30974434
5.
Mutation in IL36RN impairs the processing and regulatory function of the interleukin-36-receptor antagonist and is associated with DITRA syndrome.
Exp Dermatol
; 28(10): 1114-1117, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28603914
6.
Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti.
J Allergy Clin Immunol
; 140(6): 1671-1682.e2, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28249776
7.
Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti.
Mol Genet Metab
; 122(3): 140-144, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28711407
8.
Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms.
Hum Mol Genet
; 21(6): 1260-71, 2012 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22121116
9.
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.
N Engl J Med
; 365(7): 620-8, 2011 Aug 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-21848462
10.
Epithelial barrier dysfunction in desmoglein-1 deficiency.
J Allergy Clin Immunol
; 142(2): 702-706.e7, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29705242
11.
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
Hum Mutat
; 32(1): 70-2, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20979233
12.
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.
Hum Mutat
; 29(5): 595-604, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18350553
13.
Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.
Nat Med
; 23(10): 1226-1233, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28869610
14.
Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene.
Hum Mutat
; 27(8): 731-5, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16799922
15.
IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases.
J Invest Dermatol
; 136(9): 1811-1819, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27220475