Lista de obras - Serkan Erdin - Dominio Público Uruguay

A deep learning approach to identify gene targets of a therapeutic for human splicing disorders

artículo científico publicado en 2021

A large-scale evaluation of computational protein function prediction

artículo científico publicado en 2013

A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB

artículo científico publicado en 2012

A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings

artículo científico publicado en 2017

Accounting for epistatic interactions improves the functional analysis of protein structures

artículo científico publicado en 2013

Accurate Protein Structure Annotation through Competitive Diffusion of Enzymatic Functions over a Network of Local Evolutionary Similarities ⬇️

artículo científico publicado el 13 de diciembre de 2010

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

artículo científico publicado en 2014

Data integration of bulk and single-cell transcriptomics from cerebral organoids and post-mortem brains to identify cell types and cell type specific driver genes in autism

artículo científico publicado en 2020

De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features

scientific article published on 07 October 2020

De-orphaning the structural proteome through reciprocal comparison of evolutionarily important structural features

artículo científico publicado en 2008

ETAscape: analyzing protein networks to predict enzymatic function and substrates in Cytoscape

artículo científico publicado en 2012

Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.

artículo científico publicado en 2016

Evolutionary Trace Annotation Server: automated enzyme function prediction in protein structures using 3D templates

artículo científico publicado en 2009

Evolutionary trace annotation of protein function in the structural proteome

artículo científico publicado en 2009

Evolutionary trace for prediction and redesign of protein functional sites

artículo científico publicado en 2012

Function prediction from networks of local evolutionary similarity in protein structure

artículo científico publicado en 2013

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

artículo científico publicado en 2015

Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice

scientific article published on 29 September 2020

Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation

artículo científico publicado en 2015

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function

artículo científico publicado en 2014

Identifying cell type specific driver genes in autism-associated copy number loci from cerebral organoids

artículo científico publicado en 2020

Low incidence of off-target mutations in individual CRISPR-Cas9 and TALEN targeted human stem cell clones detected by whole-genome sequencing.

artículo científico publicado en 2014

Modeling the structure and electronic properties ofTiO2nanoparticles

scholarly article in Physical Review B, vol. 73 no. 20, May 2006

NetWalker: a contextual network analysis tool for functional genomics

artículo científico publicado en 2012

Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder

scientific article published on 10 June 2022

Pain correlates with germline mutation in schwannomatosis

artículo científico publicado en 2018

Photoinduced Magnetism Caused by Charge-Transfer Excitations in Tetracyanoethylene-Based Organic Magnets

artículo científico publicado en 2006

Potential molecular consequences of transgene integration: The R6/2 mouse example

scientific article published on 25 January 2017

Prediction and experimental validation of enzyme substrate specificity in protein structures

artículo científico publicado en 2013

Prediction of enzyme function based on 3D templates of evolutionarily important amino acids.

artículo científico publicado en 2008

Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.

artículo científico publicado en 2015

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

artículo científico publicado en 2016

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

artículo científico publicado en 2017

Sequence and structure continuity of evolutionary importance improves protein functional site discovery and annotation

artículo científico publicado en 2010

The use of evolutionary patterns in protein annotation ⬇️

artículo científico publicado el 24 de mayo de 2012

Topological Textures in a Ferromagnet-Superconductor Bilayer

artículo científico publicado en 2001

Traditional and systems biology based drug discovery for the rare tumor syndrome neurofibromatosis type 2.

artículo científico publicado en 2018

Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families

artículo científico publicado en 2014

WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4.

artículo científico publicado en 2017

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome

article

Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome

artículo científico publicado en 2015

mTOR kinase inhibition disrupts neuregulin 1-ERBB3 autocrine signaling and sensitizes <i>NF2</i>-deficient meningioma cellular models to IGF1R inhibition

scientific article published on 03 December 2020

Lista de obras de Serkan Erdin

A deep learning approach to identify gene targets of a therapeutic for human splicing disorders

A large-scale evaluation of computational protein function prediction

A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB

A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings

Accounting for epistatic interactions improves the functional analysis of protein structures

Accurate Protein Structure Annotation through Competitive Diffusion of Enzymatic Functions over a Network of Local Evolutionary Similarities ⬇️

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

Data integration of bulk and single-cell transcriptomics from cerebral organoids and post-mortem brains to identify cell types and cell type specific driver genes in autism

De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features

De-orphaning the structural proteome through reciprocal comparison of evolutionarily important structural features

ETAscape: analyzing protein networks to predict enzymatic function and substrates in Cytoscape

Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.

Evolutionary Trace Annotation Server: automated enzyme function prediction in protein structures using 3D templates

Evolutionary trace annotation of protein function in the structural proteome

Evolutionary trace for prediction and redesign of protein functional sites

Function prediction from networks of local evolutionary similarity in protein structure

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice

Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function

Identifying cell type specific driver genes in autism-associated copy number loci from cerebral organoids

Low incidence of off-target mutations in individual CRISPR-Cas9 and TALEN targeted human stem cell clones detected by whole-genome sequencing.

Modeling the structure and electronic properties ofTiO2nanoparticles

NetWalker: a contextual network analysis tool for functional genomics

Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder

Pain correlates with germline mutation in schwannomatosis

Photoinduced Magnetism Caused by Charge-Transfer Excitations in Tetracyanoethylene-Based Organic Magnets

Potential molecular consequences of transgene integration: The R6/2 mouse example

Prediction and experimental validation of enzyme substrate specificity in protein structures

Prediction of enzyme function based on 3D templates of evolutionarily important amino acids.

Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Sequence and structure continuity of evolutionary importance improves protein functional site discovery and annotation

The use of evolutionary patterns in protein annotation ⬇️

Topological Textures in a Ferromagnet-Superconductor Bilayer

Traditional and systems biology based drug discovery for the rare tumor syndrome neurofibromatosis type 2.

Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families

WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4.

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome

Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome

mTOR kinase inhibition disrupts neuregulin 1-ERBB3 autocrine signaling and sensitizes <i>NF2</i>-deficient meningioma cellular models to IGF1R inhibition