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Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients

Human mutation, 2021-06, Vol.42 (6), p.787-795

2021

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Structure and function analysis of Sam68 and hnRNP A1 synergy in the exclusion of exon 7 from SMN2 transcripts

Protein science, 2023-04, Vol.32 (4), p.e4553-n/a

2023

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C-Reactive Protein as a Therapeutic Target in Age-Related Macular Degeneration

Frontiers in immunology, 2018-04, Vol.9, p.808-808

2018

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Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

Neuromuscular disorders : NMD, 2018-03, Vol.28 (3), p.208-215

2018

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TET2 missense variants in human neoplasia. A proposal of structural and functional classification

Molecular genetics & genomic medicine, 2019-07, Vol.7 (7), p.e00772-n/a

2019

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Structure of the homodimeric androgen receptor ligand-binding domain

Nature communications, 2017-02, Vol.8 (1), p.14388-14388, Article 14388

2017

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Mutagénesis dirigida del conector interdominio ácido FVIIIa3 del factor VIII de la coagulación como estrategia para favorecer la cristalización de sus complejos con la trombina

Tecnología en marcha, 2019-10, Vol.32 (4)

2019

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Non-canonical dimerization of the androgen receptor and other nuclear receptors: implications for human disease

Endocrine-related cancer, 2019-08, Vol.26 (8), p.R479-R497

2019

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Diversity of Quaternary Structures Regulates Nuclear Receptor Activities

Trends in biochemical sciences (Amsterdam. Regular ed.), 2019-01, Vol.44 (1), p.2-6

2019

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Complement factor H binding of monomeric C-reactive protein downregulates proinflammatory activity and is impaired with at risk polymorphic CFH variants

Scientific reports, 2016-03, Vol.6 (1), p.22889-22889, Article 22889

2016

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In vivo detection of Staphylococcus aureus endocarditis by targeting pathogen-specific prothrombin activation

Nature medicine, 2011-09, Vol.17 (9), p.1142-1146

2011

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Molecular basis of protein S deficiency

Thrombosis and haemostasis, 2007-09, Vol.98 (3), p.543

2007

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Metazoan evolution of glutamate receptors reveals unreported phylogenetic groups and divergent lineage-specific events

eLife, 2018-11, Vol.7

2018

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A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction?

Journal of the peripheral nervous system, 2021-03, Vol.26 (1), p.113-117

2021

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Unique thrombin inhibition mechanism by anophelin, an anticoagulant from the malaria vector

Proceedings of the National Academy of Sciences - PNAS, 2012-12, Vol.109 (52), p.E3649-E3658

2012

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Metalloproteinases Shed TREM-1 Ectodomain from Lipopolysaccharide-Stimulated Human Monocytes

Journal of Immunology, 2007-09, Vol.179 (6), p.4065-4073

2007

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Priming of SARS-CoV-2 S protein by several membrane-bound serine proteinases could explain enhanced viral infectivity and systemic COVID-19 infection

The Journal of biological chemistry, 2021-01, Vol.296, p.100135-100135, Article 100135

Fuentes-Prior, Pablo

2021

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6-Methylprednisolone down-regulates IRAK-M in human and murine osteoclasts and boosts bone-resorbing activity: a putative mechanism for corticoid-induced osteoporosis

Journal of leukocyte biology, 2007-09, Vol.82 (3), p.700-709

2007

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Isolation, cloning and structural characterisation of boophilin, a multifunctional Kunitz-type proteinase inhibitor from the cattle tick

PloS one, 2008-02, Vol.3 (2), p.e1624-e1624

2008

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Staphylocoagulase is a prototype for the mechanism of cofactor-induced zymogen activation

Nature, 2003-10, Vol.425 (6957), p.535-539

2003

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Novel PLEKHG5 mutations in a patient with childhood‐onset lower motor neuron disease

Annals of clinical and translational neurology, 2021-01, Vol.8 (1), p.294-299

2021

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Structural and functional analysis of APOA5 mutations identified in patients with severe hypertriglyceridemia[S]

Journal of lipid research, 2013-03, Vol.54 (3), p.649-661

2013

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Leech-Derived Thrombin Inhibitors: From Structures to Mechanisms to Clinical Applications

Journal of medicinal chemistry, 2010-05, Vol.53 (10), p.3847-3861

2010

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Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients

Structure and function analysis of Sam68 and hnRNP A1 synergy in the exclusion of exon 7 from SMN2 transcripts

C-Reactive Protein as a Therapeutic Target in Age-Related Macular Degeneration

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

TET2 missense variants in human neoplasia. A proposal of structural and functional classification

Structure of the homodimeric androgen receptor ligand-binding domain

Mutagénesis dirigida del conector interdominio ácido FVIIIa3 del factor VIII de la coagulación como estrategia para favorecer la cristalización de sus complejos con la trombina

Non-canonical dimerization of the androgen receptor and other nuclear receptors: implications for human disease

Diversity of Quaternary Structures Regulates Nuclear Receptor Activities

Complement factor H binding of monomeric C-reactive protein downregulates proinflammatory activity and is impaired with at risk polymorphic CFH variants

In vivo detection of Staphylococcus aureus endocarditis by targeting pathogen-specific prothrombin activation

Molecular basis of protein S deficiency

Metazoan evolution of glutamate receptors reveals unreported phylogenetic groups and divergent lineage-specific events

A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction?

Unique thrombin inhibition mechanism by anophelin, an anticoagulant from the malaria vector

Metalloproteinases Shed TREM-1 Ectodomain from Lipopolysaccharide-Stimulated Human Monocytes

Priming of SARS-CoV-2 S protein by several membrane-bound serine proteinases could explain enhanced viral infectivity and systemic COVID-19 infection

6-Methylprednisolone down-regulates IRAK-M in human and murine osteoclasts and boosts bone-resorbing activity: a putative mechanism for corticoid-induced osteoporosis

Isolation, cloning and structural characterisation of boophilin, a multifunctional Kunitz-type proteinase inhibitor from the cattle tick

Staphylocoagulase is a prototype for the mechanism of cofactor-induced zymogen activation

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

Novel PLEKHG5 mutations in a patient with childhood‐onset lower motor neuron disease

Structural and functional analysis of APOA5 mutations identified in patients with severe hypertriglyceridemia[S]

Leech-Derived Thrombin Inhibitors: From Structures to Mechanisms to Clinical Applications

Rare variants in calcium homeostasis modulator 1 (CALHM1) found in early onset Alzheimer's disease patients alter calcium homeostasis

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