Lista de obras - Isabelle Callebaut - Dominio Público Uruguay

3D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase

artículo científico publicado en 2008

A novel Toxoplasma gondii nuclear factor TgNF3 is a dynamic chromatin-associated component, modulator of nucleolar architecture and parasite virulence

artículo científico publicado en 2011

An Rpb4/Rpb7-like complex in yeast RNA polymerase III contains the orthologue of mammalian CGRP-RCP

artículo científico publicado en 2003

Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells

artículo científico publicado en 2019

D53 is a novel endosomal SNARE-binding protein that enhances interaction of syntaxin 1 with the synaptobrevin 2 complex in vitro

scientific journal article

End-joining inhibition at telomeres requires the translocase and polySUMO-dependent ubiquitin ligase Uls1.

artículo científico publicado en 2013

Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome

scientific journal article

GPR50 is the mammalian ortholog of Mel1c: evidence of rapid evolution in mammals

artículo científico publicado en 2008

Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability

artículo científico publicado en 2013

Identification, characterization and metagenome analysis of oocyte-specific genes organized in clusters in the mouse genome

artículo científico publicado en 2005

Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection

scientific article published on 23 December 2016

Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations ⬇️

artículo científico publicado en 2014

Metallo-beta-lactamase fold within nucleic acids processing enzymes: the beta-CASP family

artículo científico publicado en 2002

Mice expressing RHAG and RHD human blood group genes

artículo científico publicado en 2013

NEDD1-dependent recruitment of the gamma-tubulin ring complex to the centrosome is necessary for centriole duplication and spindle assembly

artículo científico publicado en 2006

OCRE: a novel domain made of imperfect, aromatic-rich octamer repeats

artículo científico publicado en 2005

Prediction of the general transcription factors associated with RNA polymerase II in Plasmodium falciparum: conserved features and differences relative to other eukaryotes

artículo científico publicado en 2005

Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity

artículo científico publicado en 2004

The C-terminal domain of Cernunnos/XLF is dispensable for DNA repair in vivo

artículo científico publicado en 2008

The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein

artículo científico publicado en 2011

The Hedgehog-inducible ubiquitin ligase subunit WSB-1 modulates thyroid hormone activation and PTHrP secretion in the developing growth plate

artículo científico publicado en 2005

The V(D)J recombination/DNA repair factor artemis belongs to the metallo-beta-lactamase family and constitutes a critical developmental checkpoint of the lymphoid system

artículo científico publicado en 2003

The checkpoint Saccharomyces cerevisiae Rad9 protein contains a tandem tudor domain that recognizes DNA

artículo científico publicado en 2007

The metallo-beta-lactamase/beta-CASP domain of Artemis constitutes the catalytic core for V(D)J recombination

artículo científico publicado en 2004

The thyroid hormone-inactivating deiodinase functions as a homodimer

artículo científico publicado en 2008

The δ Subunit of Retinal Rod cGMP Phosphodiesterase Regulates the Membrane Association of Ras and Rap GTPases ⬇️

artículo científico publicado el 10 de enero de 2002

Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation

scientific article published on 21 March 2013

Lista de obras de Isabelle Callebaut

3D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase

A novel Toxoplasma gondii nuclear factor TgNF3 is a dynamic chromatin-associated component, modulator of nucleolar architecture and parasite virulence

An Rpb4/Rpb7-like complex in yeast RNA polymerase III contains the orthologue of mammalian CGRP-RCP

Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells

D53 is a novel endosomal SNARE-binding protein that enhances interaction of syntaxin 1 with the synaptobrevin 2 complex in vitro

End-joining inhibition at telomeres requires the translocase and polySUMO-dependent ubiquitin ligase Uls1.

Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome

GPR50 is the mammalian ortholog of Mel1c: evidence of rapid evolution in mammals

Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability

Identification, characterization and metagenome analysis of oocyte-specific genes organized in clusters in the mouse genome

Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection

Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations ⬇️

Metallo-beta-lactamase fold within nucleic acids processing enzymes: the beta-CASP family

Mice expressing RHAG and RHD human blood group genes

NEDD1-dependent recruitment of the gamma-tubulin ring complex to the centrosome is necessary for centriole duplication and spindle assembly

OCRE: a novel domain made of imperfect, aromatic-rich octamer repeats

Prediction of the general transcription factors associated with RNA polymerase II in Plasmodium falciparum: conserved features and differences relative to other eukaryotes

Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity

The C-terminal domain of Cernunnos/XLF is dispensable for DNA repair in vivo

The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein

The Hedgehog-inducible ubiquitin ligase subunit WSB-1 modulates thyroid hormone activation and PTHrP secretion in the developing growth plate

The V(D)J recombination/DNA repair factor artemis belongs to the metallo-beta-lactamase family and constitutes a critical developmental checkpoint of the lymphoid system

The checkpoint Saccharomyces cerevisiae Rad9 protein contains a tandem tudor domain that recognizes DNA

The metallo-beta-lactamase/beta-CASP domain of Artemis constitutes the catalytic core for V(D)J recombination

The thyroid hormone-inactivating deiodinase functions as a homodimer

The δ Subunit of Retinal Rod cGMP Phosphodiesterase Regulates the Membrane Association of Ras and Rap GTPases ⬇️

Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation