A vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo.
The expression patterns of the two genes in diencephalon suggest that they both have a role in establishing the boundary between presumptive dorsal and ventral thalamus and in anterior neuroectoderm, demarcating rostral brain regions even before headfold formation.
Orthopedia, a novel homeobox-containing gene expressed in the developing CNS of both mouse and drosophila
Retinoic acid induces stage-specific antero-posterior transformation of rostral central nervous system
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene.
A homozygous mutation in the delta SG gene (a single nucleotide deletion that alters its reading frame) is the cause of LGMD2F, a heterogeneous group of inherited neuromuscular disorders characterized by proximal muscular weakness of the pelvic and shoulder girdles and a variable progression with symptoms.
Genetic basis of limb-girdle muscular dystrophies: the 2014 update
The present review has the aim of recapitulating the genetic basis of LGMD ordering and of proposing a nomenclature for the orphan forms.
Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies.
Genetic anomalies can be considered the primary cause of myocardial damage in carriers of dystrophinopathic myopathies and shows the same behavior already described in DMD and BMD patients and progresses from preclinical to dilated cardiomyopathy, passing through stages ofMyocardial hypertrophy or dysrhythmias.
Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly
The presence of different mutations in cases of severe schizencephaly suggests a requirement of the EMX2 protein for the correct formation of the human cerebral cortex.
Identification of the Syrian hamster cardiomyopathy gene.
It is demonstrated that the cardiomyopathy in the BIO14.6 hamster results from a mutation in the delta-sarcoglycan gene that maps to the disease locus, the first animal model identified for human sarcoglycan disorders.
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population
Findings suggest that a predisposing genetic background may contribute to the observed interindividual clinical variability associated with COVID-19, allowing an evidence-based risk assessment leading to personalized preventive measures and therapeutic options.
Molecular diagnosis in LGMD2A: Mutation analysis or protein testing?
This study reports the largest collection of LGMD2A patients so far in which both protein and gene mutations were obtained to draw genotype–protein–phenotype correlations and provide insights into a critical protein domain.