Lista de obras - Dinesh C Soares - Dominio Público Uruguay

A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depression

artículo científico publicado en 2009

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma

artículo científico publicado en 2017

A structural organization for the Disrupted in Schizophrenia 1 protein, identified by high-throughput screening, reveals distinctly folded regions, which are bisected by mental illness-related mutations

artículo científico publicado en 2017

A structurally distinct TGF-β mimic from an intestinal helminth parasite potently induces regulatory T cells.

artículo científico publicado en 2017

A t(1;11) translocation linked to schizophrenia and affective disorders gives rise to aberrant chimeric DISC1 transcripts that encode structurally altered, deleterious mitochondrial proteins

artículo científico publicado en 2012

ACS Omega 2017: A Year-End Expression of Appreciation for the Fundamental Contributions of Our Reviewers

artículo científico publicado en 2018

ARABIDOPSIS CRINKLY4 function, internalization, and turnover are dependent on the extracellular crinkly repeat domain

artículo científico publicado en 2005

Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy

artículo científico publicado en 2017

An interrupted beta-propeller and protein disorder: structural bioinformatics insights into the N-terminus of alsin

artículo científico publicado en 2008

Atypical femoral fracture in osteoporosis pseudoglioma syndrome associated with two novel compound heterozygous mutations in LRP5

article

Characterization of a novel RP2-OSTF1 interaction and its implication for actin remodeling

artículo científico publicado en 2018

Condensin II mutation causes T-cell lymphoma through tissue-specific genome instability

artículo científico publicado en 2016

DISC1 as a genetic risk factor for schizophrenia and related major mental illness: response to Sullivan

artículo científico publicado en 2014

DISC1 complexes with TRAK1 and Miro1 to modulate anterograde axonal mitochondrial trafficking

artículo científico publicado en 2014

DISC1 genetics, biology and psychiatric illness

artículo científico publicado en 2013

DISC1: Structure, Function, and Therapeutic Potential for Major Mental Illness

artículo científico publicado en 2011

Evolutionary Characterization of the Retinitis Pigmentosa GTPase Regulator Gene

artículo científico publicado en 2015

Functional insights from the structure of the multifunctional C345C domain of C5 of complement

artículo científico publicado en 2004

HIV-1 Uncoating and Reverse Transcription Require eEF1A Binding to Surface-Exposed Acidic Residues of the Reverse Transcriptase Thumb Domain.

artículo científico publicado en 2018

Highly homologous eEF1A1 and eEF1A2 exhibit differential post-translational modification with significant enrichment around localised sites of sequence variation

artículo científico publicado en 2013

HpARI Protein Secreted by a Helminth Parasite Suppresses Interleukin-33

artículo científico publicado en 2017

In silico structure-function analysis of pathological variation in the HSD11B2 gene sequence

artículo científico publicado en 2010

Large-scale modelling as a route to multiple surface comparisons of the CCP module family

article

Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the Mouse

scientific article published on 01 July 2019

Molecular evolution of the human SRPX2 gene that causes brain disorders of the Rolandic and Sylvian speech areas

artículo científico publicado en 2007

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

artículo científico publicado en 2014

NDE1 and NDEL1: multimerisation, alternate splicing and DISC1 interaction

artículo científico publicado en 2008

NDE1 and NDEL1: twin neurodevelopmental proteins with similar 'nature' but different 'nurture'.

artículo científico publicado en 2013

Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability

artículo científico publicado en 2016

Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration

artículo científico publicado en 2017

Opportunities for new therapies based on the natural regulators of complement activation

artículo científico publicado en 2005

Oxovanadium(IV) cyclam and bicyclam complexes: potential CXCR4 receptor antagonists

artículo científico publicado en 2010

PKA phosphorylation of NDE1 is DISC1/PDE4 dependent and modulates its interaction with LIS1 and NDEL1

artículo científico publicado en 2011

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins ⬇️

artículo científico publicado en 2017

Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish

artículo científico publicado en 2017

RPGR: Its role in photoreceptor physiology, human disease, and future therapies.

artículo científico publicado en 2015

Rare disruptive variants in the DISC1 Interactome and Regulome: association with cognitive ability and schizophrenia

artículo científico publicado en 2017

SAF-A Regulates Interphase Chromosome Structure through Oligomerization with Chromatin-Associated RNAs

artículo científico publicado en 2017

Solution Structure of CCP Modules 10–12 Illuminates Functional Architecture of the Complement Regulator, Factor H

artículo científico publicado en 2012

Solution Structure of Factor I-like Modules from Complement C7 Reveals a Pair of Follistatin Domains in Compact Pseudosymmetric Arrangement

artículo científico publicado en 2009

Specific Interaction between eEF1A and HIV RT Is Critical for HIV-1 Reverse Transcription and a Potential Anti-HIV Target

artículo científico publicado en 2015

Structural analysis of the C-terminal region (modules 18-20) of complement regulator factor H (FH)

artículo científico publicado en 2012

Structural models of human eEF1A1 and eEF1A2 reveal two distinct surface clusters of sequence variation and potential differences in phosphorylation

artículo científico publicado en 2009

Structure of the N-terminal region of complement factor H and conformational implications of disease-linked sequence variations

artículo científico publicado en 2008

Structure-based Mapping of DAF Active Site Residues That Accelerate the Decay of C3 Convertases

scientific article published in Journal of Biological Chemistry

Targeted sequencing of the Paget's disease associated 14q32 locus identifies several missense coding variants in RIN3 that predispose to Paget's disease of bone.

artículo científico publicado en 2015

The central portion of factor H (modules 10-15) is compact and contains a structurally deviant CCP module

artículo científico publicado en 2010

The evolution of TEP1, an exceptionally polymorphic immunity gene in Anopheles gambiae

artículo científico publicado en 2008

The intermediate filament protein, vimentin, is a regulator of NOD2 activity

artículo científico publicado en 2013

The mitosis and neurodevelopment proteins NDE1 and NDEL1 form dimers, tetramers, and polymers with a folded back structure in solution.

artículo científico publicado en 2012

The structure of the KlcA and ArdB proteins reveals a novel fold and antirestriction activity against Type I DNA restriction systems in vivo but not in vitro

artículo científico publicado en 2010

Translation elongation factor 1A2 is encoded by one of four closely related eef1a genes and is dispensable for survival in zebrafish

scientific article published on 01 January 2020

eEF1A2 and neuronal degeneration

artículo científico publicado en 2009

Lista de obras de Dinesh C Soares

A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depression

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma

A structural organization for the Disrupted in Schizophrenia 1 protein, identified by high-throughput screening, reveals distinctly folded regions, which are bisected by mental illness-related mutations

A structurally distinct TGF-β mimic from an intestinal helminth parasite potently induces regulatory T cells.

A t(1;11) translocation linked to schizophrenia and affective disorders gives rise to aberrant chimeric DISC1 transcripts that encode structurally altered, deleterious mitochondrial proteins

ACS Omega 2017: A Year-End Expression of Appreciation for the Fundamental Contributions of Our Reviewers

ARABIDOPSIS CRINKLY4 function, internalization, and turnover are dependent on the extracellular crinkly repeat domain

Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy

An interrupted beta-propeller and protein disorder: structural bioinformatics insights into the N-terminus of alsin

Atypical femoral fracture in osteoporosis pseudoglioma syndrome associated with two novel compound heterozygous mutations in LRP5

Characterization of a novel RP2-OSTF1 interaction and its implication for actin remodeling

Condensin II mutation causes T-cell lymphoma through tissue-specific genome instability

DISC1 as a genetic risk factor for schizophrenia and related major mental illness: response to Sullivan

DISC1 complexes with TRAK1 and Miro1 to modulate anterograde axonal mitochondrial trafficking

DISC1 genetics, biology and psychiatric illness

DISC1: Structure, Function, and Therapeutic Potential for Major Mental Illness

Evolutionary Characterization of the Retinitis Pigmentosa GTPase Regulator Gene

Functional insights from the structure of the multifunctional C345C domain of C5 of complement

HIV-1 Uncoating and Reverse Transcription Require eEF1A Binding to Surface-Exposed Acidic Residues of the Reverse Transcriptase Thumb Domain.

Highly homologous eEF1A1 and eEF1A2 exhibit differential post-translational modification with significant enrichment around localised sites of sequence variation

HpARI Protein Secreted by a Helminth Parasite Suppresses Interleukin-33

In silico structure-function analysis of pathological variation in the HSD11B2 gene sequence

Large-scale modelling as a route to multiple surface comparisons of the CCP module family

Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the Mouse

Molecular evolution of the human SRPX2 gene that causes brain disorders of the Rolandic and Sylvian speech areas

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

NDE1 and NDEL1: multimerisation, alternate splicing and DISC1 interaction

NDE1 and NDEL1: twin neurodevelopmental proteins with similar 'nature' but different 'nurture'.

Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability

Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration

Opportunities for new therapies based on the natural regulators of complement activation

Oxovanadium(IV) cyclam and bicyclam complexes: potential CXCR4 receptor antagonists

PKA phosphorylation of NDE1 is DISC1/PDE4 dependent and modulates its interaction with LIS1 and NDEL1

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins ⬇️

Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish

RPGR: Its role in photoreceptor physiology, human disease, and future therapies.

Rare disruptive variants in the DISC1 Interactome and Regulome: association with cognitive ability and schizophrenia

SAF-A Regulates Interphase Chromosome Structure through Oligomerization with Chromatin-Associated RNAs

Solution Structure of CCP Modules 10–12 Illuminates Functional Architecture of the Complement Regulator, Factor H

Solution Structure of Factor I-like Modules from Complement C7 Reveals a Pair of Follistatin Domains in Compact Pseudosymmetric Arrangement

Specific Interaction between eEF1A and HIV RT Is Critical for HIV-1 Reverse Transcription and a Potential Anti-HIV Target

Structural analysis of the C-terminal region (modules 18-20) of complement regulator factor H (FH)

Structural models of human eEF1A1 and eEF1A2 reveal two distinct surface clusters of sequence variation and potential differences in phosphorylation

Structure of the N-terminal region of complement factor H and conformational implications of disease-linked sequence variations

Structure-based Mapping of DAF Active Site Residues That Accelerate the Decay of C3 Convertases

Targeted sequencing of the Paget's disease associated 14q32 locus identifies several missense coding variants in RIN3 that predispose to Paget's disease of bone.

The central portion of factor H (modules 10-15) is compact and contains a structurally deviant CCP module

The evolution of TEP1, an exceptionally polymorphic immunity gene in Anopheles gambiae

The intermediate filament protein, vimentin, is a regulator of NOD2 activity

The mitosis and neurodevelopment proteins NDE1 and NDEL1 form dimers, tetramers, and polymers with a folded back structure in solution.

The structure of the KlcA and ArdB proteins reveals a novel fold and antirestriction activity against Type I DNA restriction systems in vivo but not in vitro

Translation elongation factor 1A2 is encoded by one of four closely related eef1a genes and is dispensable for survival in zebrafish

eEF1A2 and neuronal degeneration