Publications by authors named "L Pedrola"

Article Synopsis
  • Germline variants in the phosphatidylinositol glycan class A gene lead to MCAHS2, a syndrome marked by multiple congenital anomalies, seizures, and hypotonia, inherited in an X-linked recessive manner.
  • A case study presents a male infant with MCAHS2 due to a novel variant from his mother, who exhibited a non-skewed pattern of X-chromosome inactivation, which is uncommon in typical cases.
  • The study suggests using flow-cytometry tests to assess GPI-anchored protein expression, particularly CD16, in neutrophils of carrier mothers with random X-inactivation to better understand the pathogenic implications of gene variants affecting GPI-APs.
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Glaucoma has no cure and is a sight-threatening neurodegenerative disease affecting more than 100 million people worldwide, with primary open angle glaucoma (POAG) being the most globally prevalent glaucoma clinical type. Regulation of gene expression and gene networks, and its multifactorial pathways involved in glaucoma disease are landmarks for ophthalmic research. MicroRNAs (miRNAs/miRs) are small endogenous non-coding, single-stranded RNA molecules (18-22 nucleotides) that regulate gene expression.

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Cerebral palsy (CP) is a heterogeneous neurodevelopmental disorder that causes movement and postural disabilities. Recent research studies focused on genetic diagnosis in patients with CP of unknown etiology. The present study was carried out in 20 families with one family member affected with idiopathic CP.

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Among the most intriguing mysteries in the evolutionary biology of photosynthetic organisms are the genesis and consequences of the dramatic increase in the mitochondrial and nuclear genome sizes, together with the concomitant evolution of the three genetic compartments, particularly during the transition from water to land. To clarify the evolutionary trends in the mitochondrial genome of Archaeplastida, we analyzed the sequences from 37 complete genomes. Therefore, we utilized mitochondrial, plastidial and nuclear ribosomal DNA molecular markers on 100 species of Streptophyta for each subunit.

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