A5027205049- RNA modifications and cancer
- Nuclear Structure and Function
- Hippo pathway signaling and YAP/TAZ
- Genetics and Neurodevelopmental Disorders
- Metabolism and Genetic Disorders
- RNA Research and Splicing
- Histiocytic Disorders and Treatments
- Fetal and Pediatric Neurological Disorders
- RNA regulation and disease
- Renal Diseases and Glomerulopathies
- Genetic Neurodegenerative Diseases
- Cancer-related molecular mechanisms research
- PI3K/AKT/mTOR signaling in cancer
- Cancer Genomics and Diagnostics
- Microtubule and mitosis dynamics
- RNA and protein synthesis mechanisms
- Connective tissue disorders research
- Genomics and Rare Diseases
- Cellular transport and secretion
- Ubiquitin and proteasome pathways
- Mitochondrial Function and Pathology
- Polyomavirus and related diseases
- Muscle and Compartmental Disorders
- Systemic Lupus Erythematosus Research
- Genomic variations and chromosomal abnormalities
Research Institute Hospital 12 de Octubre
2017-2024
Abstract Striated muscle needs to maintain cellular homeostasis in adaptation increases physiological and metabolic demands. Failure do so can result rhabdomyolysis. The identification of novel genetic conditions associated with rhabdomyolysis helps shed light on hitherto unrecognized homeostatic mechanisms. Here we report seven individuals six families from different ethnic backgrounds biallelic variants MLIP, which encodes the muscular lamin A/C-interacting protein, MLIP. Patients...
Abstract We report the clinical and genetic findings in a 15‐year‐old Spanish boy presenting prenatal postnatal growth retardation, reduced subcutaneous adipose tissue, premature skin wrinkling, sparse hair, short distal phalanges with small nails, umbilical hernia, wide anterior fontanel, normal cognitive motor development. Exome sequencing uncovered heterozygous mutation SLC25A24 (NM_013386: c.650G>A: p.R217H) that encodes for calcium‐binding mitochondrial carrier protein SCaMC‐1. This...
Abstract We report the case of a Caucasian Spanish origin female who showed severe psychomotor developmental delay, hypotonia, strabismus, epilepsy, short stature, and poor verbal language development. Brain magnetic resonance imaging scans thickened corpus callosum, cortical malformations, dilated abnormal configuration lateral ventricles without hydrocephalus. Whole‐exome sequence uncovered de novo variant in microtubule associated serine/threonine kinase 1 gene ( MAST1 ;...
We report the clinical and genetic features of a Caucasian girl who presented severe neurodevelopmental disorder with drug-resistant epilepsy, hypotonia, gastro-esophageal reflux brain magnetic resonance imaging anomalies. WES uncovered novel variant in homozygosis (g.197092814_197092824delinsC) HECW2 gene that encodes E3 ubiquitin-protein ligase HECW2. This protein induces ubiquitination is implicated regulation several important pathways involved neurodevelopment neurogenesis. Furthermore,...