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Alexandra M Lopes

Explore the profile of Alexandra M Lopes including associated specialties, affiliations and a list of published articles. Areas
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Articles 44
Citations 554
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Recent Articles
1.
Maric T, Castillo-Madeen H, Klaric M, Barisic A, Trgovec-Greif L, Murphy M, et al.
Hum Mol Genet . 2025 Jan; 34(6):481-491. PMID: 39777458
The most severe form of male infertility is idiopathic non-obstructive azoospermia (NOA), a complete sperm absence in the ejaculate. We performed exome sequencing in the Croatian infertile brothers with NOA...
2.
Guzman-Jimenez A, Gonzalez-Munoz S, Cervan-Martin M, Garrido N, Castilla J, Gonzalvo M, et al.
Hum Reprod Open . 2024 Dec; 2024(4):hoae069. PMID: 39678461
Study Question: Can genome-wide genotyping data be analysed using a hypothesis-driven approach to enhance the understanding of the genetic basis of severe spermatogenic failure (SPGF) in male infertility? Summary Answer:...
3.
Houston B, Nguyen J, Merriner D, OConnor A, Lopes A, Nagirnaja L, et al.
Cell Death Dis . 2024 Jul; 15(7):499. PMID: 38997255
Dynein complexes are large, multi-unit assemblies involved in many biological processes via their critical roles in protein transport and axoneme motility. Using next-generation sequencing of infertile men presenting with low...
4.
Houston B, Merriner D, Stathatos G, Nguyen J, OConnor A, Lopes A, et al.
Life Sci Alliance . 2024 Apr; 7(6). PMID: 38570187
The transition zone is a specialised gate at the base of cilia/flagella, which separates the ciliary compartment from the cytoplasm and strictly regulates protein entry. We identified a potential new...
5.
Cervan-Martin M, Gonzalez-Munoz S, Guzman-Jimenez A, Higueras-Serrano I, Castilla J, Garrido N, et al.
Hum Reprod . 2024 Feb; 39(3):612-622. PMID: 38305414
Study Question: Do the genetic determinants of idiopathic severe spermatogenic failure (SPGF) differ between generations? Summary Answer: Our data support that the genetic component of idiopathic SPGF is impacted by...
6.
Houston B, Nguyen J, Merriner D, OConnor A, Lopes A, Nagirnaja L, et al.
bioRxiv . 2023 Nov; PMID: 38014244
Dynein complexes are large, multi-unit assemblies involved in many biological processes including male fertility via their critical roles in protein transport and axoneme motility. Previously we identified a pathogenic variant...
7.
Felicio D, Dias A, Martins S, Carvalho E, Lopes A, Pinto N, et al.
J Headache Pain . 2023 Jun; 24(1):78. PMID: 37380951
Migraine is a common and complex neurological disease potentially caused by a polygenic interaction of multiple gene variants. Many genes associated with migraine are involved in pathways controlling the synaptic...
8.
Felicio D, Alves-Ferreira M, Santos M, Quintas M, Lopes A, Lemos C, et al.
Brief Funct Genomics . 2023 May; 23(2):138-149. PMID: 37254524
Most SNPs associated with complex diseases seem to lie in non-coding regions of the genome; however, their contribution to gene expression and disease phenotype remains poorly understood. Here, we established...
9.
Guzman-Jimenez A, Gonzalez-Munoz S, Cervan-Martin M, Rivera-Egea R, Garrido N, Lujan S, et al.
Front Cell Dev Biol . 2023 Jan; 10:1089782. PMID: 36589743
Severe spermatogenic failure (SPGF) represents one of the most relevant causes of male infertility. This pathological condition can lead to extreme abnormalities in the seminal sperm count, such as severe...
10.
Nagirnaja L, Lopes A, Charng W, Miller B, Stakaitis R, Golubickaite I, et al.
Nat Commun . 2022 Dec; 13(1):7953. PMID: 36572685
Non-obstructive azoospermia (NOA) is the most severe form of male infertility and typically incurable. Defining the genetic basis of NOA has proven challenging, and the most advanced classification of NOA...