Detalhe da pesquisa
1.
Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans.
Br J Dermatol
; 188(1): 94-99, 2023 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36689507
2.
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.
Am J Hum Genet
; 100(6): 926-939, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28575648
3.
The loss of SMG1 causes defects in quality control pathways in Physcomitrella patens.
Nucleic Acids Res
; 46(11): 5822-5836, 2018 06 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29596649
4.
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4.
Hum Mutat
; 40(12): 2318-2333, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31347739
5.
The Physcomitrella patens chromosome-scale assembly reveals moss genome structure and evolution.
Plant J
; 93(3): 515-533, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29237241
6.
Crosstalk between different family members: IL27 recapitulates IFNγ responses in HCC cells, but is inhibited by IL6-type cytokines.
Biochim Biophys Acta Mol Cell Res
; 1864(3): 516-526, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27939431
7.
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.
Hum Mutat
; 39(10): 1305-1313, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30011118
8.
Quinalizarin inhibits adipogenesis through down-regulation of transcription factors and microRNA modulation.
Biochim Biophys Acta Gen Subj
; 1861(12): 3272-3281, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28964816
9.
Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.
Acta Derm Venereol
; 96(7): 932-937, 2016 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27025581
10.
ppdb: plant promoter database version 3.0.
Nucleic Acids Res
; 42(Database issue): D1188-92, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24194597
11.
Insights from the cold transcriptome of Physcomitrella patens: global specialization pattern of conserved transcriptional regulators and identification of orphan genes involved in cold acclimation.
New Phytol
; 205(2): 869-81, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25209349
12.
Quantitative analysis of the mitochondrial and plastid proteomes of the moss Physcomitrella patens reveals protein macrocompartmentation and microcompartmentation.
Plant Physiol
; 164(4): 2081-95, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24515833
13.
Reannotation and extended community resources for the genome of the non-seed plant Physcomitrella patens provide insights into the evolution of plant gene structures and functions.
BMC Genomics
; 14: 498, 2013 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-23879659
14.
Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.
Genes (Basel)
; 14(3)2023 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980989
15.
Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation.
BMC Med Genomics
; 15(1): 4, 2022 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34983512
16.
Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis.
Front Genet
; 12: 719624, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34956305
17.
The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome.
Genes (Basel)
; 12(10)2021 09 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34680878
18.
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
Genes (Basel)
; 12(1)2021 01 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33435499
19.
Large impact of the apoplast on somatic embryogenesis in Cyclamen persicum offers possibilities for improved developmental control in vitro.
BMC Plant Biol
; 10: 77, 2010 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-20426818
20.
Identification and characterization of NAGNAG alternative splicing in the moss Physcomitrella patens.
BMC Plant Biol
; 10: 76, 2010 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-20426810