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The pathogenic mechanism of diabetes varies with the degree of overexpression and oligomerization of human amylin in the pancreatic islet β cells

The FASEB journal, 2014-12, Vol.28 (12), p.5083-5096

2014

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Atypical neural variability in carriers of 16p11.2 copy number variants

Autism research, 2019-09, Vol.12 (9), p.1322-1333

2019

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Opposing phenotypes in mice with Smith-Magenis deletion and Potocki-Lupski duplication syndromes suggest gene dosage effects on fluid consumption behavior

American journal of medical genetics. Part A, 2012-11, Vol.158A (11), p.2807-2814

2012

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Exposure to 1800 MHz radiofrequency radiation induces oxidative damage to mitochondrial DNA in primary cultured neurons

Brain research, 2010-01, Vol.1311, p.189-196

2010

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A pathogenesis‐related protein GmPR08‐Bet VI promotes a molecular interaction between the GmSHMT08 and GmSNAP18 in resistance to Heterodera glycines

Plant biotechnology journal, 2020-08, Vol.18 (8), p.1810-1829

2020

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Aneuploidy Causes Non-genetic Individuality

Cell, 2017-04, Vol.169 (2), p.229-242.e21

2017

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Chromosomal Density of Cancer Up-Regulated Genes, Aberrant Enhancer Activity and Cancer Fitness Genes Are Associated with Transcriptional Cis-Effects of Broad Copy Number Gains in Colorectal Cancer

International journal of molecular sciences, 2019-09, Vol.20 (18), p.4652

2019

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Obesity-exposed oocytes accumulate and transmit damaged mitochondria due to an inability to activate mitophagy

Developmental biology, 2017-06, Vol.426 (1), p.126-138

2017

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Unraveling the genetic basis of fast l‐arabinose consumption on top of recombinant xylose‐fermenting Saccharomyces cerevisiae

Biotechnology and bioengineering, 2019-02, Vol.116 (2), p.283-293

2019

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Identification of Prognostic Dosage-Sensitive Genes in Colorectal Cancer Based on Multi-Omics

Frontiers in genetics, 2020-01, Vol.10, p.1310-1310

2020

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Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review

Genes, 2021-03, Vol.12 (4), p.471

2021

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Overexpression screen of chromosome 21 genes reveals modulators of Sonic hedgehog signaling relevant to Down syndrome

Disease models & mechanisms, 2023-04, Vol.16 (4)

2023

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Elimination of amyloid precursor protein in senile plaques in the brain of a patient with Alzheimer-type dementia and Down syndrome

Brain & development (Tokyo. 1979), 2019-01, Vol.41 (1), p.106-110

2019

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Activity of andrographolide against chikungunya virus infection

Scientific reports, 2015-09, Vol.5 (1), p.14179-14179, Article 14179

2015

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Studies to analyse the relationship between IFNα2b gene dosage and its expression, using a Pichia pastoris‐based expression system

Yeast (Chichester, England), 2014-01, Vol.31 (1), p.13-28

2014

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Pharmacotherapeutic Considerations for Individuals with Down Syndrome

Pharmacotherapy, 2017-02, Vol.37 (2), p.214-220

2017

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Labile soil carbon inputs mediate the soil microbial community composition and plant residue decomposition rates

The New phytologist, 2010-12, Vol.188 (4), p.1055-1064

2010

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A variant in GRN of Spanish origin presenting with heterogeneous phenotypes

Neurología (Barcelona, English ed. ), 2022-10

2022

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Nitrous Oxide Treatment after Pollination Induces Ploidy Changes in Statice (Limonium sp.)

Horticulturae, 2024-08, Vol.10 (8), p.816

2024

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Structure of the HLA-DR-DQ-genotype in children with coeliac disease

Medicinskij sovet, 2020-07 (10), p.74-80

2020

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Polyhydroxybutyrate (PHB) Biosynthesis by an Engineered Yarrowia lipolytica Strain Using Co-Substrate Strategy

Fermentation (Basel), 2023-12, Vol.9 (12), p.1003

2023

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miRNA-155 upregulation and complement factor H deficits in Down’s syndrome

Neuroreport, 2012-02, Vol.23 (3), p.168-173

2012

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Reconstruction of ancestral metabolic enzymes reveals molecular mechanisms underlying evolutionary innovation through gene duplication

PLoS biology, 2012-12, Vol.10 (12), p.e1001446

2012

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Functional analysis of RUNX2 mutations in cleidocranial dysplasia: novel insights into genotype–phenotype correlations

Blood cells, molecules, & diseases, 2003-03, Vol.30 (2), p.184-193

2003

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The pathogenic mechanism of diabetes varies with the degree of overexpression and oligomerization of human amylin in the pancreatic islet β cells

Atypical neural variability in carriers of 16p11.2 copy number variants

Opposing phenotypes in mice with Smith-Magenis deletion and Potocki-Lupski duplication syndromes suggest gene dosage effects on fluid consumption behavior

Exposure to 1800 MHz radiofrequency radiation induces oxidative damage to mitochondrial DNA in primary cultured neurons

A pathogenesis‐related protein GmPR08‐Bet VI promotes a molecular interaction between the GmSHMT08 and GmSNAP18 in resistance to Heterodera glycines

Aneuploidy Causes Non-genetic Individuality

Chromosomal Density of Cancer Up-Regulated Genes, Aberrant Enhancer Activity and Cancer Fitness Genes Are Associated with Transcriptional Cis-Effects of Broad Copy Number Gains in Colorectal Cancer

Obesity-exposed oocytes accumulate and transmit damaged mitochondria due to an inability to activate mitophagy

Unraveling the genetic basis of fast l‐arabinose consumption on top of recombinant xylose‐fermenting Saccharomyces cerevisiae

Identification of Prognostic Dosage-Sensitive Genes in Colorectal Cancer Based on Multi-Omics

Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review

Overexpression screen of chromosome 21 genes reveals modulators of Sonic hedgehog signaling relevant to Down syndrome

Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

Elimination of amyloid precursor protein in senile plaques in the brain of a patient with Alzheimer-type dementia and Down syndrome

Activity of andrographolide against chikungunya virus infection

Studies to analyse the relationship between IFNα2b gene dosage and its expression, using a Pichia pastoris‐based expression system

Pharmacotherapeutic Considerations for Individuals with Down Syndrome

Labile soil carbon inputs mediate the soil microbial community composition and plant residue decomposition rates

A variant in GRN of Spanish origin presenting with heterogeneous phenotypes

Nitrous Oxide Treatment after Pollination Induces Ploidy Changes in Statice (Limonium sp.)

Structure of the HLA-DR-DQ-genotype in children with coeliac disease

Polyhydroxybutyrate (PHB) Biosynthesis by an Engineered Yarrowia lipolytica Strain Using Co-Substrate Strategy

miRNA-155 upregulation and complement factor H deficits in Down’s syndrome

Reconstruction of ancestral metabolic enzymes reveals molecular mechanisms underlying evolutionary innovation through gene duplication

Functional analysis of RUNX2 mutations in cleidocranial dysplasia: novel insights into genotype–phenotype correlations

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