X. de la Cruz

发表

Molecular Dynamics Study of Naturally Existing Cavity Couplings in Proteins

M. Orozco, T. Meyer, M. D’Abramo, 2015, PloS one.

Prediction of pathological mutations in proteins: the challenge of integrating sequence conservation and structure stability principles

X. de la Cruz, C. Riera, S. Lois, 2014 .

Characterization of the impact of alternative splicing on protein dynamics: The cases of glutathione S‐transferase and ectodysplasin‐A isoforms

M. Orozco, T. Meyer, M. Barbany, 2012, Proteins.

The Relationship between Gene Isoform Multiplicity, Number of Exons and Protein Divergence

David Talavera, J. Morata, X. de la Cruz, 2013, PloS one.

Characterization of compensated mutations in terms of structural and physico-chemical properties.

M. Orozco, X. de la Cruz, C. Ferrer-Costa, 2007, Journal of molecular biology.

Triplex-forming oligonucleotide target sequences in the human genome.

M. Orozco, X. de la Cruz, J. R. Goñi, 2004, Nucleic acids research.

Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties.

M. Orozco, X. de la Cruz, C. Ferrer-Costa, 2002, Journal of molecular biology.

Sequence‐based prediction of pathological mutations

M. Orozco, X. de la Cruz, C. Ferrer-Costa, 2004, Proteins.

Use of bioinformatics tools for the annotation of disease‐associated mutations in animal models

M. Orozco, X. de la Cruz, C. Ferrer-Costa, 2005, Proteins.

Preservation of protein clefts in comparative models

Xavier de la Cruz, David Piedra, X. de la Cruz, 2008, BMC Structural Biology.

Toward predicting protein topology: An approach to identifying β hairpins

Janet M. Thornton, Xavier de la Cruz, Adrian Shepherd, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Linear response theory: An alternative to PB and GB methods for the analysis of molecular dynamics trajectories?

F. J. Luque, Modesto Orozco, Antonio Morreale, 2004, Proteins.

BRCA1‐ and BRCA2‐specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge

X. de la Cruz, C. Riera, S. Bonache, 2019, Human mutation.

Molecular damage in Fabry disease: Characterization and prediction of alpha‐galactosidase A pathological mutations

J. Montaner, X. de la Cruz, C. Riera, 2015, Proteins.

Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence

Xavier de la Cruz, Natàlia Padilla, X. de la Cruz, 2017, BMC Genomics.

The functional modulation of epigenetic regulators by alternative splicing

X. de la Cruz, S. Lois, M. Martínez-Balbás, 2007, BMC Genomics.

Case Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis

X. de la Cruz, R. Colobran, M. Martínez-Gallo, 2021, Frontiers in Immunology.

Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants

P. Radivojac, R. Casadio, O. Lichtarge, 2019, Human mutation.

Structural and Computational Characterization of Disease-Related Mutations Involved in Protein-Protein Interfaces

J. Fernández-Recio, X. de la Cruz, Mireia Rosell, 2019, International journal of molecular sciences.

Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity

X. de la Cruz, Josu Aguirre, Òscar Marín, 2019, Scientific Reports.

Characterization of structural variability sheds light on the specificity determinants of the interaction between effector domains and histone tails

X. de la Cruz, S. Lois, N. Akizu, 2010, Epigenetics.

Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations

P. Soler-Palacín, X. de la Cruz, X. Solanich, 2017, Journal of Clinical Immunology.

The SV40 T antigen modulates CBP histone acetyltransferase activity.

X. de la Cruz, E. Valls, M. Martínez-Balbás, 2003, Nucleic acids research.

Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disorders

H. Hakonarson, D. Reinberg, G. Ming, 2022, medRxiv.

Autoacetylation Regulates P/CAF Nuclear Localization*

X. de la Cruz, M. Martínez-Balbás, Elena Asensio-Juan, 2009, Journal of Biological Chemistry.

Elucidating the molecular basis of MSH2‐deficient tumors by combined germline and somatic analysis

A. Valencia, T. Pons, C. Lázaro, 2017, International journal of cancer.

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

I. T. de Almeida, X. de la Cruz, C. Riera, 2018, Orphanet Journal of Rare Diseases.

Do protein motifs read the histone code?

X. de la Cruz, S. Lois, M. Martínez-Balbás, 2005, BioEssays : news and reviews in molecular, cellular and developmental biology.

Molecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activity

X. de la Cruz, R. Colobran, M. Martínez-Gallo, 2019, International Journal of Hematology.

Alternative splicing mechanisms for the modulation of protein function: conservation between human and other species.

Modesto Orozco, Xavier de la Cruz, David Talavera, 2004, Journal of molecular biology.

Exploring the binding mode of semicarbazide-sensitive amine oxidase/VAP-1: identification of novel substrates with insulin-like activity.

M. Orozco, X. de la Cruz, M. Palacín, 2004, Journal of medicinal chemistry.

The histone demethylase PHF8 is a molecular safeguard of the IFNγ response

X. de la Cruz, S. Lois, C. Caelles, 2017, Nucleic acids research.

PHF2 histone demethylase prevents DNA damage and genome instability by controlling cell cycle progression of neural progenitors

X. de la Cruz, M. Martínez-Balbás, Stella Pappa, 2019, Proceedings of the National Academy of Sciences.

Cerebrospinal fluid-derived circulating tumour DNA better represents the genomic alterations of brain tumours than plasma

Salvatore Piscuoglio, Xavier de la Cruz, Jordi Rodon, 2015, Nature Communications.

EZH2 regulates neuroepithelium structure and neuroblast proliferation by repressing p21

X. de la Cruz, N. Akizu, M. Martínez-Balbás, 2016, Open Biology.

Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants

X. de la Cruz, Selen Özkan, N. Padilla, 2021, International journal of molecular sciences.

An atomistic view to the gas phase proteome.

Modesto Orozco, Xavier de la Cruz, Tim Meyer, 2009, Structure.

Genome-wide analysis reveals that Smad3 and JMJD3 HDM co-activate the neural developmental program

X. de la Cruz, N. Akizu, Sergi Beltran, 2012, Development.

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Neil H. Parker, Dylan M. Marchione, R. Redon, 2020, Science Advances.

hSos1 contains a new amino-terminal regulatory motif with specific binding affinity for its pleckstrin homology domain.

X. de la Cruz, N. Martínez, J. Rojas, 2002, The Journal of Biological Chemistry.

Lineage specific transcription factors and epigenetic regulators mediate TGFβ-dependent enhancer activation

Á. Rada-Iglesias, X. de la Cruz, S. Lois, 2018, Nucleic acids research.

Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema.

X. de la Cruz, S. Lois, R. Colobran, 2014, Clinical immunology.

A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.

Daniel Rueda, Ana Osorio, Xavier de la Cruz, 2020, Clinical chemistry.

New genes involved in Angelman syndrome-like: Expanding the genetic spectrum

N. Baena, S. Derdak, X. de la Cruz, 2020, bioRxiv.

Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3

Érica Morán, X. de la Cruz, S. Lois, 2015, Molecular genetics & genomic medicine.

Alternative Splicing of Transcription Factors' Genes: Beyond the Increase of Proteome Diversity

Modesto Orozco, Xavier de la Cruz, David Talavera, 2009, Comparative and functional genomics.

Clinical and structural impact of mutations affecting the residue Phe367 of FOXP3 in patients with IPEX syndrome.

P. Soler-Palacín, X. de la Cruz, R. Colobran, 2016, Clinical immunology.

Novel Mutations Causing C5 Deficiency in Three North-African Families

D. Comas, N. Baena, P. Soler-Palacín, 2016, Journal of Clinical Immunology.

Loss of microRNA-135b Enhances Bone Metastasis in Prostate Cancer and Predicts Aggressiveness in Human Prostate Samples

R. Gomis, R. Rodríguez-Barrueco, X. de la Cruz, 2021, Cancers.

Involvement of chromatin and histone deacetylation in SV40 T antigen transcription regulation

X. de la Cruz, David Piedra, E. Valls, 2007, Nucleic acids research.

Use of structure comparison methods for the refinement of protein structure predictions. I. Identifying the structural family of a protein from low‐resolution models

Ian Sillitoe, Christine Orengo, Xavier de la Cruz, 2002, Proteins.

Identification and characterization of the novel point mutation m.3634A>G in the mitochondrial MT-ND1 gene associated with LHON syndrome.

X. de la Cruz, E. García-Arumí, J. Gámez, 2017, Biochimica et biophysica acta. Molecular basis of disease.

Epigenetic signature for attention-deficit/hyperactivity disorder: identification of miR-26b-5p, miR-185-5p, and miR-191-5p as potential biomarkers in peripheral blood mononuclear cells

B. Franke, M. Soler Artigas, C. Sánchez-Mora, 2018, Neuropsychopharmacology.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, Theodore G. Drivas, J. Constantino, 2023, Science advances.

FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis

F. Casals, X. de la Cruz, R. Colobran, 2020, Frontiers in Immunology.

Exploring the Essential Dynamics of B-DNA.

Modesto Orozco, Xavier de la Cruz, Manuel Rueda, 2005, Journal of chemical theory and computation.

hSos1 Contains a New Amino-terminal Regulatory Motif with Specific Binding Affinity for Its Pleckstrin Homology Domain*

Xavier de la Cruz, X. de la Cruz, N. Martínez, 2002, The Journal of Biological Chemistry.

A 15 amino acid stretch close to the Grb2-binding domain defines two differentially expressed hSos1 isoforms with markedly different Grb2 binding affinity and biological activity.

X. de la Cruz, E. Santos, P. Aroca, 1996, Oncogene.

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

H. Hakonarson, D. Reinberg, G. Ming, 2023, Nature communications.

A fast method for the determination of fractional contributions to solvation in proteins

Robert Soliva, F. J. Luque, Modesto Orozco, 2006, Protein science : a publication of the Protein Society.

Data Mining of Molecular Dynamics Trajectories of Nucleic Acids

F. J. Luque, Modesto Orozco, Carles Ferrer, 2006, Journal of biomolecular structure & dynamics.

Partition of protein solvation into group contributions from molecular dynamics simulations

F. J. Luque, Modesto Orozco, Antonio Morreale, 2004, Proteins.

Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence

X. de la Cruz, Elena Álvarez de la Campa, N. Padilla, 2017, BMC Genomics.

Choosing Variant Interpretation Tools for Clinical Applications: Context Matters

X. de la Cruz, C. Riera, L. Feliubadaló, 2022, bioRxiv.

Genome-wide analysis reveals that Smad3 and JMJD3 HDM co-activate the neural developmental program

X. de la Cruz, N. Akizu, Sergi Beltran, 2012, Development.

Cerebrospinal fluid-derived circulating tumour DNA better represents the genomic alterations of brain tumours than plasma

M. Berger, J. Reis-Filho, J. Carles, 2015, Nature Communications.

Novel Mutations Causing C5 Deficiency in Three North-African Families

D. Comas, N. Baena, P. Soler-Palacín, 2016, Journal of Clinical Immunology.