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Insights from the cold transcriptome of Physcomitrella patens: global specialization pattern of conserved transcriptional regulators and identification of orphan genes involved in cold acclimation

The New phytologist, 2015-01, Vol.205 (2), p.869-881

2015

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Exploring plant biodiversity: the Physcomitrella genome and beyond

Trends in plant science, 2008-10, Vol.13 (10), p.542-549

2008

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Quantitative Analysis of the Mitochondrial and Plastid Proteomes of the Moss Physcomitrella patens Reveals Protein Macrocompartmentation and Microcompartmentation

Plant physiology (Bethesda), 2014-04, Vol.164 (4), p.2081-2095

2014

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Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis

Frontiers in genetics, 2021-12, Vol.12, p.719624-719624

2021

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Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation

BMC medical genomics, 2022-01, Vol.15 (1), p.4-4, Article 4

2022

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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, 2021-09, Vol.12 (10), p.1483

2021

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Neonatal presentation of COG6‐CDG with prominent skin phenotype

JIMD reports, 2020-09, Vol.55 (1), p.51-58

2020

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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, 2013-07, Vol.14 (1), p.498-498, Article 498

2013

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Large impact of the apoplast on somatic embryogenesis in Cyclamen persicum offers possibilities for improved developmental control in vitro

BMC plant biology, 2010-04, Vol.10 (1), p.77-77, Article 77

2010

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Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans

American journal of human genetics, 2017-06, Vol.100 (6), p.926-939

2017

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Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis

Human mutation, 2018-10, Vol.39 (10), p.1305-1313

2018

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Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans

British journal of dermatology (1951), 2023-01, Vol.188 (1), p.94-99

2023

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Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients

Acta dermato-venereologica, 2016-11, Vol.96 (7), p.932-937

2016

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The loss of SMG1 causes defects in quality control pathways in Physcomitrella patens

Nucleic acids research, 2018-06, Vol.46 (11), p.5822

2018

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CK2 phosphorylation of C/EBPδ regulates its transcription factor activity

The international journal of biochemistry & cell biology, 2015-04, Vol.61, p.81-89

2015

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A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation

Journal of investigative dermatology, 2019-10, Vol.139 (10), p.2154-2163.e5

2019

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Quinalizarin inhibits adipogenesis through down-regulation of transcription factors and microRNA modulation

Biochimica et biophysica acta. General subjects, 2017-12, Vol.1861 (12), p.3272-3281

2017

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ppdb: plant promoter database version 3.0

Nucleic acids research, 2014-01, Vol.42 (Database issue), p.D1188

2014

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Identification and characterization of NAGNAG alternative splicing in the moss Physcomitrella patens

BMC plant biology, 2010-04, Vol.10 (1), p.76-76, Article 76

2010

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Crosstalk between different family members: IL27 recapitulates IFNγ responses in HCC cells, but is inhibited by IL6-type cytokines

Biochimica et biophysica acta. Molecular cell research, 2017-03, Vol.1864 (3), p.516-526

2017

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The PD‐L1‐ and IL6‐mediated dampening of the IL27/STAT1 anticancer responses are prevented by α‐PD‐L1 or α‐IL6 antibodies

Journal of leukocyte biology, 2018-11, Vol.104 (5), p.969-985

2018

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Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A

Pigment cell and melanoma research, 2019-01, Vol.32 (1), p.85-91

2019

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Insights from the cold transcriptome of Physcomitrella patens: global specialization pattern of conserved transcriptional regulators and identification of orphan genes involved in cold acclimation

Exploring plant biodiversity: the Physcomitrella genome and beyond

Quantitative Analysis of the Mitochondrial and Plastid Proteomes of the Moss Physcomitrella patens Reveals Protein Macrocompartmentation and Microcompartmentation

Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis

Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation

Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis

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

Neonatal presentation of COG6‐CDG with prominent skin phenotype

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

Large impact of the apoplast on somatic embryogenesis in Cyclamen persicum offers possibilities for improved developmental control in vitro

Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans

Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis

Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans

Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients

The loss of SMG1 causes defects in quality control pathways in Physcomitrella patens

CK2 phosphorylation of C/EBPδ regulates its transcription factor activity

A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation

Quinalizarin inhibits adipogenesis through down-regulation of transcription factors and microRNA modulation

ppdb: plant promoter database version 3.0

Identification and characterization of NAGNAG alternative splicing in the moss Physcomitrella patens

Crosstalk between different family members: IL27 recapitulates IFNγ responses in HCC cells, but is inhibited by IL6-type cytokines

Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4

The PD‐L1‐ and IL6‐mediated dampening of the IL27/STAT1 anticancer responses are prevented by α‐PD‐L1 or α‐IL6 antibodies

Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients

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