J. Caparros-Martin

发表

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

D. Nelson, G. Herrero-Beaumont, C. Hawkins, 2019, Nature Communications.

The gut microbiome and atherosclerosis: current knowledge and clinical potential.

F. O'Gara, N. Ward, G. Dwivedi, 2019, American journal of physiology. Heart and circulatory physiology.

The gut microbiome and cardiovascular disease: current knowledge and clinical potential

N. Ward, G. Dwivedi, J. Caparrós-Martín, 2019 .

OSX/SP7 mutations and osteogenesis imperfecta

P. Lapunzina, J. Caparrós-Martín, S. Temtamy, 2014 .

Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.

P. Lapunzina, R. Letón, N. Vilaboa, 2010, American journal of human genetics.

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.

M. Digilio, J. Goodship, P. Lapunzina, 2015, Human molecular genetics.

Rethinking the bile acid/gut microbiome axis in cancer

F. O'Gara, R. O'Connor, F. Reen, 2017, Oncotarget.

Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis‐van Creveld syndrome caused by hypomorphic mutations in the EVC gene

M. Digilio, P. Lapunzina, M. Tartaglia, 2020, Human mutation.

The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia.

J. Goodship, P. Lapunzina, H. Peters, 2013, Human molecular genetics.

Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base.

F. Mulero, J. Goodship, J. Caparrós-Martín, 2012, Bone.

Phylogenetic and genetic linkage between novel atypical dual-specificity phosphatases from non-metazoan organisms

L. Tabernero, R. Pulido, M. Molina, 2011, Molecular Genetics and Genomics.

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

P. Lapunzina, J. Nevado, E. Vallespín, 2016, Molecular genetics & genomic medicine.

The immunotoxicity, but not anti-tumor efficacy, of anti-CD40 and anti-CD137 immunotherapies is dependent on the gut microbiota

D. Lynn, Anastasia Sribnaia, F. Ryan, 2021, Cell reports. Medicine.

Statin therapy causes gut dysbiosis in mice through a PXR-dependent mechanism

F. O'Gara, J. Peplies, P. Newsholme, 2017, Microbiome.

Mutations in PLOD2 cause autosomal‐recessive connective tissue disorders within the Bruck syndrome—Osteogenesis imperfecta phenotypic spectrum

P. Lapunzina, K. Amr, J. Caparrós-Martín, 2012, Human mutation.

HAD hydrolase function unveiled by substrate screening: enzymatic characterization of Arabidopsis thaliana subclass I phosphosugar phosphatase AtSgpp

J. Caparrós-Martín, F. Culiáñez-macià, I. McCarthy-Suárez, 2012, Planta.

Sequence Determinants of Substrate Ambiguity in a HAD Phosphosugar Phosphatase of Arabidopsis Thaliana

J. Caparrós-Martín, F. Culiáñez-macià, I. McCarthy-Suárez, 2019, Biology.

Beneficial effects of inorganic nitrate in non-alcoholic fatty liver disease.

F. O'Gara, Trevor A. Mori, K. Croft, 2021, Archives of biochemistry and biophysics.

Isoquercetin and inulin synergistically modulate the gut microbiome to prevent development of the metabolic syndrome in mice fed a high fat diet

F. O'Gara, K. Croft, N. Ward, 2018, Scientific Reports.

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

P. Lapunzina, D. Eyre, J. Caparrós-Martín, 2012, Human mutation.

Statin therapy causes gut dysbiosis in mice through a PXR-dependent mechanism

F. O'Gara, J. Peplies, P. Newsholme, 2017, Microbiome.

Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype–phenotype correlations

C. Farra, P. Lapunzina, K. Amr, 2013, American journal of medical genetics. Part A.

Rethinking food and nutrition science - Effective governance for food and nutrition science in Australia - Discussion paper

G. Ambrosini, C. Pollard, D. Gallegos, 2017 .

The Detection of Bile Acids in the Lungs of Paediatric Cystic Fibrosis Patients Is Associated with Altered Inflammatory Patterns

F. O'Gara, S. Stick, D. Woods, 2020, Diagnostics.

Mutations in WNT1 cause different forms of bone fragility.

S. Mundlos, K. Garcia, P. Krawitz, 2013, American journal of human genetics.

Systems Biology and Bile Acid Signalling in Microbiome-Host Interactions in the Cystic Fibrosis Lung

F. O'Gara, S. Stick, D. Woods, 2021, Antibiotics.

Microbiomic Analysis on Low Abundant Respiratory Biomass Samples; Improved Recovery of Microbial DNA From Bronchoalveolar Lavage Fluid

F. O'Gara, S. Stick, P. Wark, 2020, Frontiers in Microbiology.

Airway Epithelium Respiratory Illnesses and Allergy (AERIAL) birth cohort: study protocol

T. Iosifidis, E. Kicic-Starcevich, A. Kicic, 2023, medRxiv.

Biochemical and physiological characterization of Arabidopsis thaliana AtCoAse: a Nudix CoA hydrolyzing protein that improves plant development.

T. Kupke, J. Caparrós-Martín, F. Culiáñez-macià, 2009, Physiologia plantarum.

Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

J. García-Verdugo, P. Lapunzina, E. Ostergaard, 2014, American journal of medical genetics. Part A.

Bile Acid Signal Molecules Associate Temporally with Respiratory Inflammation and Microbiome Signatures in Clinically Stable Cystic Fibrosis Patients

F. O'Gara, J. Peplies, S. Stick, 2020, Microorganisms.

EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO

Juan J. Cerrolaza, G. Marfany, F. Garcia-Gonzalo, 2023, Frontiers in cell and developmental biology.

Bile Acids and Microbiota Interplay in Pancreatic Cancer

M. Falasca, Pratibha Malhotra, Ranjith Palanisamy, 2023, Cancers.

Detection of bile acids in bronchoalveolar lavage fluid defines the inflammatory and microbial landscape of the lower airways in infants with cystic fibrosis

R. Ware, P. Sly, S. Stick, 2023, Microbiome.

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

D. Nelson, G. Herrero-Beaumont, C. Hawkins, 2019, Nature Communications.

BILE ACIDS IN LOWER AIRWAYS AS A NOVEL INDICATOR OF AIRWAY MICROBIOTA CHANGES IN CHRONIC OBSTRUCTIVE PULMONARY DISEASE.

S. Stick, Y. Moodley, F. Reen, 2023, medRxiv.

The kinetic analysis of the substrate specificity of motif 5 in a HAD hydrolase-type phosphosugar phosphatase of Arabidopsis thaliana

J. Caparrós-Martín, F. Culiáñez-macià, I. McCarthy-Suárez, 2014, Planta.

BMP1 Mutations in Autosomal Recessive Osteogenesis Imperfecta

P. Lapunzina, J. Caparrós-Martín, S. Temtamy, 2014 .

From hype to hope: Considerations in conducting robust microbiome science

L. Stinson, A. McGuinness, M. Snelson, 2023, Brain, Behavior, and Immunity.

Gut Microbiome and Associated Metabolites Following Bariatric Surgery and Comparison to Healthy Controls

D. Green, B. Yeap, N. Ward, 2023, Microorganisms.