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Titration of Apparent In‐Cellula Affinities of Protein‐Protein Interactions

Chembiochem : a European journal of chemical biology, 2022-02, Vol.23 (4), p.e202100640-n/a

2022

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Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men

American journal of human genetics, 2018-09, Vol.103 (3), p.413-420

2018

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Molecular density functional theory of water including density-polarization coupling

Journal of physics. Condensed matter, 2016-06, Vol.28 (24), p.244005-244005

2016

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SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

American journal of human genetics, 2012-04, Vol.90 (4), p.689-692

2012

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Hutchinson-Gilford progeria syndrome: Rejuvenating old drugs to fight accelerated ageing

Methods (San Diego, Calif.), 2021-06, Vol.190, p.3-12

2021

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An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome

Nucleus (Austin, Tex.), 2018-01, Vol.9 (1), p.265-276

2018

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Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

American journal of human genetics, 2013-02, Vol.92 (2), p.271-278

2013

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Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2 , TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma

Haematologica (Roma), 2017-10, Vol.102 (10), p.1758-1766

2017

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SHAPE AND TEXTURE INDEXES APPLICATION TO CELL NUCLEI CLASSIFICATION

International journal of pattern recognition and artificial intelligence, 2013-02, Vol.27 (1), p.1357002

2013

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Lamin a Truncation in Hutchinson-Gilford Progeria

Science (American Association for the Advancement of Science), 2003-06, Vol.300 (5628), p.2055-2055

2003

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UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

Human mutation, 2016-05, Vol.37 (5), p.439-446

2016

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Homozygous deletion of SUN5 in three men with decapitated spermatozoa

Human molecular genetics, 2017-08, Vol.26 (16), p.3167-3171

2017

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Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

Human mutation, 2020-10, Vol.41 (10), p.1797-1810

2020

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Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot–Marie–Tooth disease 4H

Brain (London, England : 1878), 2023-05, Vol.146 (5), p.1844-1858

2023

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Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging

Nature Medicine, 2008-07, Vol.14 (7), p.767-772

2008

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The CoLoMoTo Interactive Notebook: Accessible and Reproducible Computational Analyses for Qualitative Biological Networks

Frontiers in physiology, 2018-06, Vol.9, p.680-680

2018

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Structures and Functions of the HIV-1 Pre-Integration Complexes

Biophysical journal, 2019-02, Vol.116 (3), p.62

2019

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Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy

PLoS genetics, 2013-06, Vol.9 (6), p.e1003550-e1003550

2013

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Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients

Muscle & nerve, 2014-12, Vol.50 (6), p.1007-1010

2014

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Structural Basis for E. coli Penicillin Binding Protein (PBP) 2 Inhibition, a Platform for Drug Design

Journal of medicinal chemistry, 2019-05, Vol.62 (9), p.4742-4754

2019

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Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas

Nature Medicine, 2017-10, Vol.23 (10), p.1226-1233

2017

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Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1

Human molecular genetics, 2019-07, Vol.28 (14), p.2378-2394

2019

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Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features

Journal of human genetics, 2018-10, Vol.63 (10), p.1077-1082

2018

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Molecular bases of progeroid syndromes

Human molecular genetics, 2006-10, Vol.15 (suppl-2), p.R151-R161

2006

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Inhibition of poly(ADP-Ribosyl)ation reduced vascular smooth muscle cells loss and improves aortic disease in a mouse model of human accelerated aging syndrome

Cell death & disease, 2024-10, Vol.15 (10), p.723-14, Article 723

2024

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Titration of Apparent In‐Cellula Affinities of Protein‐Protein Interactions

Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men

Molecular density functional theory of water including density-polarization coupling

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

Hutchinson-Gilford progeria syndrome: Rejuvenating old drugs to fight accelerated ageing

An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome

Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2 , TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma

SHAPE AND TEXTURE INDEXES APPLICATION TO CELL NUCLEI CLASSIFICATION

Lamin a Truncation in Hutchinson-Gilford Progeria

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

Homozygous deletion of SUN5 in three men with decapitated spermatozoa

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot–Marie–Tooth disease 4H

Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging

The CoLoMoTo Interactive Notebook: Accessible and Reproducible Computational Analyses for Qualitative Biological Networks

Structures and Functions of the HIV-1 Pre-Integration Complexes

Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy

Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients

Structural Basis for E. coli Penicillin Binding Protein (PBP) 2 Inhibition, a Platform for Drug Design

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas

Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1

Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features

Molecular bases of progeroid syndromes

Inhibition of poly(ADP-Ribosyl)ation reduced vascular smooth muscle cells loss and improves aortic disease in a mouse model of human accelerated aging syndrome

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