I. Callebaut

DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.
202317 citationsauthor #54
The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease)
20235 citationsauthor #8
MiniBAR/KIAA0355 is a dual Rac and Rab effector required for ciliogenesis
20230 citationsauthor #15
EPS3.07 Mapping ivacaftor-induced structural changes in CFTR with computer simulations
20230 citationsauthor #4
Toxoplasma Membrane Inositol Phospholipid Binding Protein TgREMIND Is Essential for Secretory Organelle Function and Host Infection
20235 citationsauthor #12
CAID prediction portal: a comprehensive service for predicting intrinsic disorder and binding regions in proteins
202338 citationsauthor #24
Ivacaftor-Mediated Potentiation of ABCB4 Missense Mutations Affecting Critical Motifs of the NBDs: Repositioning Perspectives for Hepatobiliary Diseases
20239 citationsauthor #9
In Vitro Rescue of the Bile Acid Transport Function of ABCB11 Variants by CFTR Potentiators
202213 citationsauthor #9
Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects
202226 citationsauthor #18
Acting on the CFTR Membrane-Spanning Domains Interface Rescues Some Misfolded Mutants
20226 citationsauthor #9
689 Pharmacological chaperones improve intradomain stability and interdomain assembly via distinct binding sites to rescue misfolded cystic fibrosis transmembrane conductance regulator
20220 citationsauthor #11
Molecular mechanisms of cystic fibrosis – how mutations lead to misfunction and guide therapy
202231 citationsauthor #2
Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation
202253 citationsauthor #19
Structure basis of CFTR folding, function and pharmacology.
202213 citationsauthor #4
Disentangling the Protein Order/Disorder Continuum Using a Sequence-Based Foldability Score
20220 citationsauthor #3
A sequence‐based foldability score combined with AlphaFold2 predictions to disentangle the protein order/disorder continuum
202215 citationsauthor #3
A New Gene Family Diagnostic for Intracellular Biomineralization of Amorphous Ca Carbonates by Cyanobacteria
20222 citationsauthor #16
Intracellular formation of amorphous calcium carbonate by bacteria: from molecular actors to environmental impacts
20220 citationsauthor #11
Publisher Correction: Somatic genetic rescue of a germline ribosome assembly defect
20220 citationsauthor #33
In vitro rescue of the bile acid transport function of some ABCB11 variants by CFTR potentiators: a targeted pharmacotherapy in progressive familial intrahepatic cholestasis type 2
20221 citationsauthor #9
Severity of the S1251N allele in cystic fibrosis is affected by the presence of the F508C variant in cis.
20223 citationsauthor #3
Digging into the 3D Structure Predictions of AlphaFold2 with Low Confidence: Disorder and Beyond
202230 citationsauthor #4
Author response: An XRCC4 mutant mouse, a model for human X4 syndrome, reveals interplays with Xlf, PAXX, and ATM in lymphoid development
20210 citationsauthor #7
CFTR corrector efficacy is associated with occupancy of distinct binding sites
20211 citationsauthor #11
Author Correction: New insights into structure and function of bis-phosphinic acid derivatives and implications for CFTR modulation
20210 citationsauthor #20
Mechanism of MRX inhibition by Rif2 at telomeres
202125 citationsauthor #9
An XRCC4 mutant mouse, a model for human X4 syndrome, reveals interplays with Xlf, PAXX, and ATM in lymphoid development
20216 citationsauthor #7
Biomineralization of intracelllar amorphous calcium carbonates (ACC) by bacteria: molecular mechanisms, evolutionary history and environmental significance
20210 citationsauthor #13
New insights into structure and function of bis-phosphinic acid derivatives and implications for CFTR modulation
202110 citationsauthor #20
Insights into the Role of the Discontinuous TM7 Helix of Human Ferroportin through the Prism of the Asp325 Residue
20214 citationsauthor #4
Intergenic ORFs as elementary structural modules of de novo gene birth and protein evolution
202129 citationsauthor #2
Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression
20216 citationsauthor #6
Structure-Based Understanding of ABCA3 Variants
202110 citationsauthor #3
In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancy
20217 citationsauthor #4
Pharmacological chaperones improve intra-domain stability and inter-domain assembly via distinct binding sites to rescue misfolded CFTR
202139 citationsauthor #11
Somatic genetic rescue of a germline ribosome assembly defect
202156 citationsauthor #33
First heterozygous NOP10 mutation in familial pulmonary fibrosis
202019 citationsauthor #4
SLX4 interacts with RTEL1 to prevent transcription-mediated DNA replication perturbations
202043 citationsauthor #15
WS05.1 AVX-770 binding site within CFTR membrane spanning domain 2 enables ATP-independent channel activation
20200 citationsauthor #9
Critical assessment of protein intrinsic disorder prediction
2020274 citationsauthor #30
Functional and Pharmacological Characterization of the Rare CFTR Mutation W361R
20207 citationsauthor #6
Targeting different binding sites in the CFTR structures allows to synergistically potentiate channel activity.
202014 citationsauthor #19
Functional rescue of an ABCB11 mutant by ivacaftor: A new targeted pharmacotherapy approach in bile salt export pump deficiency
202033 citationsauthor #11
Exploring the basic mechanisms in Cystic Fibrosis: Promoting data presentation and discussion at the 16th ECFS Basic Science Conference.
20201 citationsauthor #1
Early-onset autoimmunity associated with SOCS1 haploinsufficiency
2020120 citationsauthor #36
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.
202045 citationsauthor #22
Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype
201921 citationsauthor #4
Unsolved severe chronic rhinosinusitis elucidated by extensive CFTR genotyping
20192 citationsauthor #11
A topology-based investigation of protein interaction sites using Hydrophobic Cluster Analysis.
201913 citationsauthor #7
Impaired telomere integrity and rRNA biogenesis in PARN‐deficient patients and knock‐out models
201936 citationsauthor #13
GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia.
201926 citationsauthor #6
Discovery and Evolution of New Domains in Yeast Heterochromatin Factor Sir4 and Its Partner Esc1
201911 citationsauthor #7
Molecular model of the ferroportin intracellular gate and implications for the human iron transport cycle and hemochromatosis type 4A
201919 citationsauthor #8
CFTR: New insights into structure and function and implications for modulation by small molecules.
201919 citationsauthor #3
Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells
201968 citationsauthor #14
Combining theoretical and experimental data to decipher CFTR 3D structures and functions
201828 citationsauthor #7
Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms.
201819 citationsauthor #21
Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules
201835 citationsauthor #13
The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism
201822 citationsauthor #15
Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms.
201834 citationsauthor #21
CFTR structure.
201823 citationsauthor #1
Dominant‐negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency
2018135 citationsauthor #5
Editorial: Hybrid Biomolecular Modeling
20180 citationsauthor #3
Origins and structural properties of novel and de novo protein domains during insect evolution
201826 citationsauthor #3
Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.
201894 citationsauthor #5
HCAtk and pyHCA: A Toolkit and Python API for the Hydrophobic Cluster Analysis of Protein Sequences
201812 citationsauthor #2
Order in Disorder as Observed by the “Hydrophobic Cluster Analysis” of Protein Sequences
201825 citationsauthor #4
P019 Advanced molecular dynamics simulations for understanding the functions and dysfunctions of the CFTR channel
20180 citationsauthor #7
25 Unsolved severe chronic rhinosinusitis elucidated by extensive CFTR genotyping
20170 citationsauthor #11
Disease‐associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling
2017182 citationsauthor #24
The importance of functional tests to assess the effect of a new CFTR variant when genotype–phenotype correlation is not possible
20175 citationsauthor #3
Deficiency in Mucosa-associated Lymphoid Tissue Lymphoma Translocation 1: A Novel Cause of IPEX-Like Syndrome
201766 citationsauthor #7
The implications of CFTR structural studies for cystic fibrosis drug development
201715 citationsauthor #1
A One-Pot Synthesis of Highly Functionalized Purines.
201711 citationsauthor #6
Functional defect of variants in the adenosine triphosphate–binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX‐770)
201755 citationsauthor #9
WS09.1 3D structures of the full length CFTR protein: combining theoretical and experimental data
20170 citationsauthor #2
Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians
2017100 citationsauthor #10
Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis
2017196 citationsauthor #14
Exploring the dark foldable proteome by considering hydrophobic amino acids topology
201730 citationsauthor #2
Thrombospondin-1 (TSP-1), a new bone morphogenetic protein-2 and -4 (BMP-2/4) antagonist identified in pituitary cells
201710 citationsauthor #2
Inherited CD70 deficiency in humans reveals a critical role for the CD70–CD27 pathway in immunity to Epstein-Barr virus infection
2017130 citationsauthor #12
Lethal ALAS2 mutation in males X‐linked sideroblastic anaemia
201712 citationsauthor #2
Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two
20174 citationsauthor #122
A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly
201638 citationsauthor #13
The respective roles of polar/nonpolar binary patterns and amino acid composition in protein regular secondary structures explored exhaustively using hydrophobic cluster analysis
201611 citationsauthor #4
New KEL*01M and KEL*02M alleles: structural modeling to assess the impact of amino acid changes
20162 citationsauthor #2
Molecular modelling and molecular dynamics of CFTR
201636 citationsauthor #1
Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations.
201623 citationsauthor #14
Unconventional endosome-like compartment and retromer complex in Toxoplasma gondii govern parasite integrity and host infection
201671 citationsauthor #6
Mutations of the RTEL1 Helicase in a Hoyeraal‐Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain
201619 citationsauthor #9
Heterozygous RTEL1 Variants Are Associated with Bone Marrow Failure and Abnormal Clinical Phenotype
20160 citationsauthor #4
Detection of orphan domains in Drosophila using "hydrophobic cluster analysis".
201535 citationsauthor #4
Function, pharmacological correction and maturation of new Indian CFTR gene mutations.
201515 citationsauthor #3
Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis
2015148 citationsauthor #13
An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation.
201570 citationsauthor #14
A pharmacological characterization of ovine CFTR Cl- channels expressed in mammalian cells
20150 citationsauthor #8
Impact of the F508del mutation on ovine CFTR, a Cl− channel with enhanced conductance and ATP‐dependent gating
201521 citationsauthor #8
Evolution of species-specific major seminal fluid proteins in placental mammals by gene death and positive selection
20155 citationsauthor #3
Expanding Duplication of Free Fatty Acid Receptor-2 (GPR43) Genes in the Chicken Genome
201528 citationsauthor #3
Full-open and closed CFTR channels, with lateral tunnels from the cytoplasm and an alternative position of the F508 region, as revealed by molecular dynamics
201579 citationsauthor #5

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