Ipatimup

RESEARCHDIAGNOSTICSTRANSLATIONOUTREACH

Luísa Azevedo

Name: Luísa Azevedo

E-mail: lazevedo@ipatimup.pt

Luísa Azevedo

Member of

Consultant of Ipatimup Diagnostics

External Consultant of Population Genetics

Short CV

I graduated in Biology by the Faculty of Sciences of the University of Porto (FCUP) in 1999 and in 2004 completed my PhD degree in Biology at the FCUP as the result of the work developed in the Population Genetics group of the Institute of Pathology and Molecular Immunology of the University of Porto (Ipatimup). After a post-doctoral training, I started work as principal investigator under a Ciencia 2007 position at Ipatimup studying phenotypic-genotype relationships and the evolution of dynamic molecular systems.
I started to collaborate with the FCUP as Invited Assistant Professor in 2012. I got financial support as Principal Investigator from two competitive calls from the National Science Foundation (FCT). I also have been a team member projects that result from collaborative efforts between Ipatimup and other research centers. Thus far, a total of three master and two PhD students finished their thesis under my supervision/co-supervision.

Highlights

My current research line concentrates the most relevant issues related with protein evolution, specifically on the genetic and structural basis underlying the evolution of novel functions after duplication, epistatic interactions between residues under the compensatory mutation model and the role of non-conserved co-evolving sites in the structural space.
Important characteristics of genome architecture are also being studied, namely the Transposable Elements and their association with recombination and gene duplication.

PI (closed)

EPISTASIS .: Do genótipo ao fenótipo: avaliando os efeitos epistáticos entre as mutações e os polimorfismos nas doenças genéticas

Molecular diagnosis of OTC deficienty: too many unsolved cases

A trans-specific genomic analysis to comprehend the physiological impact of inactivated genes

First Author

1. Azevedo L, Oliveira AS, Amorim A

Ornithine Transcarbamylase Deficiency: Genetics Encyclopedia of Life Sciences ., 2017. []

doi: 10.1002/9780470015902.a0005942.pub2.

2. Azevedo L, Mort M, Costa AC, Silva RM, Quelhas D, Amorim A, Cooper DN

Improving the in silico assessment of pathogenicity for compensated variants. European journal of human genetics : EJHG 25: 2-7, 2016. [Editorial Material]

doi: 10.1038/ejhg.2016.129 PMID: 27703146.

4.3

3. Azevedo L, Serrano C, Amorim A, Cooper DN

Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response. Human genomics 9: 21, 2015. [Review]

doi: 10.1186/s40246-015-0043-1 PMID: 26337052.

3.4

4. Azevedo L, Suriano G, van Asch B, Harding RM, Amorim A

Epistatic interactions: how strong in disease and evolution? Trends in genetics : TIG 22: 581-5, 2006. [Article]

doi: 10.1016/j.tig.2006.08.001 PMID: 16911842.

10.0

5. Azevedo L, Soares PA, Quental R, Vilarinho L, Teles EL, Martins E, Diogo L, Garcia P, Cenni B, Wermuth B, Amorim A

Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC). Annals of human genetics 70: 797-801, 2006. [Article]

doi: 10.1111/j.1469-1809.2006.00283.x PMID: 17044854.

2.7

6. Azevedo L, Climent C, Vilarinho L, Calafell F, Amorim A

Evidence for mutational cis-acting factors affecting mutagenesis in the ornithine transcarbamylase gene. Human mutation 24: 273, 2004. []

doi: 10.1002/humu.9268 PMID: 15300856.

6.8

7. Azevedo L, Stolnaja L, Tietzeova E, Hrebicek M, Hruba E, Vilarinho L, Amorim A, Dvorakova L

New polymorphic sites within ornithine transcarbamylase gene: population genetics studies and implications for diagnosis. Molecular genetics and metabolism 78: 152-7, 2003. [Article]

PMID: 12618087.

2.0

8. Azevedo L, Vilarinho L, Teles EL, Amorim A

Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis. Molecular genetics and metabolism 76: 68-70, 2002. [Article]

PMID: 12175783.

2.5

9. Azevedo L, Calafell F, Vilarinho L, Amorim A

Haplotype analysis and phylogeny of ornithine transcarbamylase polymorphisms. Annals of human genetics 66: 379-85, 2002. [Article]

PMID: 12516615.

2.3

Senior Author

1. Lopes-Marques M, Silva R, Serrano C, Gomes V, Cardoso A, Prata MJ, Amorim A, Azevedo L

Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na V 1.5). PeerJ 10: e13913, 2022. [Article]

doi: 10.7717/peerj.13913 PMID: 35996667.

3.1 (*)

2. Oliveira M, Azevedo L

Molecular Markers: An Overview of Data Published for Fungi over the Last Ten Years. Journal of fungi (Basel, Switzerland) 8: ., 2022. [Review]

doi: 10.3390/jof8080803 PMID: 36012792.

3. Serrano C, Teixeira CSS, Cooper DN, Carneiro J, Lopes-Marques M, Stenson PD, Amorim A, Prata MJ, Sousa SF, Azevedo L

Compensatory epistasis explored by molecular dynamics simulations. Human genetics 140: 1329-1342, 2021. [Article]

doi: 10.1007/s00439-021-02307-x PMID: 34173867.

4.1 (*)

4. Lopes-Marques M, Pacheco AR, Peixoto MJ, Cardoso AR, Serrano C, Amorim A, Prata MJ, Cooper DN, Azevedo L

Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity. Human mutation 42: 978-989, 2021. [Article]

doi: 10.1002/humu.24221 PMID: 34015158.

4.9 (*)

5. Cardoso AR, Lopes-Marques M, Oliveira M, Amorim A, Prata MJ, Azevedo L

Genetic Variability of the Functional Domains of Chromodomains Helicase DNA-Binding (CHD) Proteins. Genes 12: ., 2021. [Article]

doi: 10.3390/genes12111827 PMID: 34828433.

4.1 (*)

6. Quelhas D, Carneiro J, Lopes-Marques M, Jaeken J, Martins E, Rocha JF, Teixeira Carla SS, Ferreira CR, Sousa SF, Azevedo L

Assessing the effects of PMM2 variants on protein stability. Molecular genetics and metabolism 134: 344-352, 2021. [Article]

doi: 10.1016/j.ymgme.2021.11.002 PMID: 34863624.

4.8 (*)

7. Cardoso AR, Lopes-Marques M, Silva RM, Serrano C, Amorim A, Prata MJ, Azevedo L

Essential genetic findings in neurodevelopmental disorders. Human genomics 13: 31, 2019. [Review]

doi: 10.1186/s40246-019-0216-4 PMID: 31288856.

3.4

8. Oliveira M, Amorim MI, Azevedo L

Authentication of plant food products: Under the magnification of Botany Forensics Nova Acta Científica Compostelana 24: 45-62, 2017. []

0.8 (*)

9. Cardoso AR, Oliveira M, Amorim A, Azevedo L

Major influence of repetitive elements on disease-associated copy number variants (CNVs). Human genomics 10: 30, 2016. [Review]

doi: 10.1186/s40246-016-0088-9 PMID: 27663310.

3.3

10. Teixeira-Silva A, Silva RM, Carneiro J, Amorim A, Azevedo L

The role of recombination in the origin and evolution of alu subfamilies. PloS one 8: e64884, 2013. [Article]

doi: 10.1371/journal.pone.0064884 PMID: 23750218.

3.5

11. Lopes-Marques M, Pereira-Castro I, Amorim A, Azevedo L

Characterization of the human ornithine transcarbamylase 3' untranslated regulatory region. DNA and cell biology 31: 427-33, 2012. [Article]

doi: 10.1089/dna.2011.1391 PMID: 22054066.

2.3

12. Pereira-Castro I, Costa LT, Amorim A, Azevedo L

Transcriptional regulation of the human mitochondrial peptide deformylase (PDF). Biochemical and biophysical research communications 421: 825-31, 2012. [Article]

doi: 10.1016/j.bbrc.2012.04.097 PMID: 22554513.

2.4

13. Pereira-Castro I, Quental R, da Costa LT, Amorim A, Azevedo L

Successful COG8 and PDF overlap is mediated by alterations in splicing and polyadenylation signals. Human genetics 131: 265-74, 2012. [Article]

doi: 10.1007/s00439-011-1075-9 PMID: 21805148.

4.6

14. Moleirinho A, Carneiro J, Matthiesen R, Silva RM, Amorim A, Azevedo L

Gains, losses and changes of function after gene duplication: study of the metallothionein family. PloS one 6: e18487, 2011. [Article]

doi: 10.1371/journal.pone.0018487 PMID: 21541013.

4.1

15. Vilarinho L, Tafulo S, Sibilio M, Kok F, Fontana F, Diogo L, Venâncio M, Ferreira M, Nogueira C, Valongo C, Parenti G, Amorim A, Azevedo L

Identification of novel L2HGDH gene mutations and update of the pathological spectrum. Journal of human genetics 55: 55-8, 2010. [Article]

doi: 10.1038/jhg.2009.110 PMID: 19911013.

2.5

16. Quelhas D, Quental R, Vilarinho L, Amorim A, Azevedo L

Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2. Annals of human genetics 71: 348-53, 2007. [Article]

doi: 10.1111/j.1469-1809.2006.00334.x PMID: 17166182.

2.3

@ 2014 Ipatimup Institute of Molecular Pathology and Immunology of the University of Porto