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Article

MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach.

Journal of dental research - 1 Jan 2018

Masotti C, Brito L A, Nica A C, Ludwig K U, Nunes K, Savastano C P, Malcher C, Ferreira S G, Kobayashi G S, Bueno D F, Alonso N, Franco D, Rojas-Martinez A, Dos Santos S E, Galante P A, Meyer D, Hünemeier T, Mangold E, Dermitzakis E T, Passos-Bueno M R

Abstract excerpt

A valuable approach to understand how individual and population genetic differences can predispose to disease is to assess the impact of genetic variants on cellular functions (e.g., gene expression) of cell and tissue types related to pathological states. To understand the genetic basis of nonsyndromic cleft lip with or without cleft palate (NSCL/P) susceptibility, a complex and highly prevalent congenital...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29053389
DOI: 10.1177/0022034517735805

Genes

MRPL53
MYC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach.PMID 29053389Read ↗

Region 8q24 is a susceptibility locus for nonsyndromic oral clefting in Brazil.Semantic proximity Read ↗

Polymorphisms at regions 1p22.1 (rs560426) and 8q24 (rs1530300) are risk markers for nonsyndromic cleft lip and/or palate in the Brazilian population.Semantic proximity Read ↗

Extending the allelic spectrum at noncoding risk loci of orofacial clefting.Semantic proximity Read ↗

2p24.2 (rs7552) is a susceptibility locus for nonsyndromic cleft lip with or without cleft palate in the Brazilian population.Semantic proximity Read ↗

MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate.Semantic proximity Read ↗

Role of MTHFR, IRF6, PAX7 and TP63 SNPs in susceptibility to non-syndromic orofacial cleft, a candidate gene study in a Portuguese population.Semantic proximity Read ↗

Evaluation of genome-wide association signals for nonsyndromic cleft lip with or without cleft palate in a multiethnic Brazilian population.Semantic proximity Read ↗

A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.Semantic proximity Read ↗

Machine learning in prediction of genetic risk of nonsyndromic oral clefts in the Brazilian population.Semantic proximity Read ↗

Secondary Genome-Wide Association Study Using Novel Analytical Strategies Disentangle Genetic Components of Cleft Lip and/or Cleft Palate in 1q32.2.Semantic proximity Read ↗

Identification of microdeletions in candidate genes for cleft lip and/or palate.Semantic proximity Read ↗

Further evidence of association of the ABCA4 gene with cleft lip/palate.Semantic proximity Read ↗

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