Luis R Saraiva
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Explore the profile of Luis R Saraiva including associated specialties, affiliations and a list of published articles.
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48
Citations
2186
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Recent Articles
1.
Abbas T, Al-Shafai K, Jamil A, Mancha M, Azzah A, Arar S, et al.
Diagnostics (Basel)
. 2025 Mar;
15(5).
PMID: 40075808
: Hypospadias, a common congenital anomaly in males, presents significant challenges in diagnosis, management, and long-term care. Despite its prevalence, research into the condition has been hampered by the lack...
2.
Mohammed I, Selvaraj S, Ahmed W, Al-Barazenji T, Dauleh H, Love D, et al.
Int J Mol Sci
. 2024 Nov;
25(21).
PMID: 39519366
Adenylate cyclase 3 () is a transmembrane protein predominantly expressed in the primary cilia of neurons. It plays a vital role in converting ATP to cAMP, a secondary messenger that...
3.
Carrico J, Goncalves C, Al-Naama A, Syed N, Aragues J, Bastos M, et al.
Hum Reprod Open
. 2024 Sep;
2024(3):hoae053.
PMID: 39308770
Study Question: What is the contribution of genetic defects in Portuguese patients with congenital hypogonadotropic hypogonadism (CHH)? Summary Answer: Approximately one-third of patients with CHH were found to have a...
4.
Rinne C, Soultoukis G, Oveisi M, Leer M, Schmidt-Bleek O, Burkhardt L, et al.
Front Endocrinol (Lausanne)
. 2024 Jun;
15:1394263.
PMID: 38904042
Introduction: Caloric restriction (CR) is a nutritional intervention that increases life expectancy while lowering the risk for cardio-metabolic disease. Its effects on bone health, however, remain controversial. For instance, CR...
5.
Janes J, Muller M, Selvaraj S, Manoel D, Stephenson J, Goncalves C, et al.
bioRxiv
. 2024 Jun;
PMID: 38854010
Genome sequencing efforts have led to the discovery of tens of millions of protein missense variants found in the human population with the majority of these having no annotated role...
6.
Fakhro K, Awwad J, Garibova S, Saraiva L, Avella M
J Transl Med
. 2024 May;
22(1):473.
PMID: 38764035
The study of the functional genome in mice and humans has been instrumental for describing the conserved molecular mechanisms regulating human reproductive biology, and for defining the etiologies of monogenic...
7.
Kamarck M, Trimmer C, Murphy N, Gregory K, Manoel D, Logan D, et al.
Clin Genet
. 2023 Dec;
105(4):376-385.
PMID: 38148624
An estimated 1 in 10 000 people are born without the ability to smell, a condition known as congenital anosmia, and about one third of those people have non-syndromic, or...
8.
Mohammed I, Selvaraj S, Ahmed W, Al-Barazenji T, Hammad A, Dauleh H, et al.
Int J Mol Sci
. 2023 Nov;
24(22).
PMID: 38003551
The leptin-melanocortin pathway is pivotal in appetite and energy homeostasis. Pathogenic variants in genes involved in this pathway lead to severe early-onset monogenic obesity (MO). The gene plays a central...
9.
Makhlouf M, Souza D, Kurian S, Bellaver B, Ellis H, Kuboki A, et al.
Mol Metab
. 2023 Nov;
79:101837.
PMID: 37977411
Objective: Food processing greatly contributed to increased food safety, diversity, and accessibility. However, the prevalence of highly palatable and highly processed food in our modern diet has exacerbated obesity rates...
10.
Moussa E, Makhlouf M, Mathew L, Saraiva L
Methods Mol Biol
. 2023 Sep;
2710:19-30.
PMID: 37688721
Spatial transcriptomics allows for the genome-wide profiling of topographic gene expression patterns within a tissue of interest. Here, we describe our methodology to generate high-quality RNA-seq libraries from cryosections from...