Abstract Limb girdle muscular dystrophies (LGMD) are a group of genetically heterogeneous disorders characterized by predominantly proximal muscle weakness. We aimed to characterize epidemiological, clinical and molecular data of patients with autosomal recessive LGMD2/LGMD‐R in Brazil. A multicenter historical cohort study was performed at 13 centers, in which index cases and their affected relatives’ data from consecutive families with genetic or pathological diagnosis of LGMD2/LGMD‐R...
Wed Jul 03, 2019 17:43
Abstract Sex chromosome trisomies (SCT) are among the most common chromosomal duplications in humans. Due to recent technological advances in non‐invasive screening, SCT can already be detected during pregnancy. This calls for more knowledge about the development of (young) children with SCT. This review focused on neurocognitive functioning of children with SCT between 0‐18 years, on domains of global intellectual functioning, language, executive functioning, and social cognition, in...
Tue Jul 02, 2019 20:09
MYOD1 is a myogenic transcription factor which plays an important role in differentiation of myocytes. A biallelic loss‐of‐function variant, c.188C<A p.(Ser63*) in MYOD1 was identified as a cause for lethal fetal akinesia syndrome in three neonates from two sibships in a family by autozygosity mapping and whole exome sequencing. Recently, an eight‐years‐old girl with mild motor delay, overlapping digits, ptosis and respiratory insufficiency was reported to have biallelic loss‐of‐function...
Mon Jul 01, 2019 20:56
Loss of heterozygosity (LOH) is a phenomenon commonly observed in cancers; the loss of chromosomal regions can be both causal and indicative of underlying genome instability. Yeast has long been used as a model organism to study genetic mechanisms difficult to study in mammalian cells. Studying gene deletions leading to increased LOH in yeast aids our understanding of the processes involved, and guides exploration into the etiology of LOH in cancers. Yet, before in-depth mechanistic studies can occur,...
Wed Jul 03, 2019 23:30
Anthracyclines cause progressive cardiotoxicity whose ultimate severity is individual to the patient. Genetic determinants contributing to this variation are difficult to study using current mouse models. Our objective was to determine whether a spectrum of anthracycline induced cardiac disease can be elicited across 10 Collaborative Cross mouse strains given the same dose of doxorubicin. Mice from ten distinct strains were given 5 mg/kg of doxorubicin intravenously once weekly for 5 weeks (total...
Tue Jul 02, 2019 00:18
Tumor necrosis factor alpha (TNF-α) is a potent cytokine involved in systemic inflammation and immune modulation. Signaling responses that involve TNF-α are context dependent and capable of stimulating pathways promoting both cell death and survival. TNF-α treatment has been investigated as part of a combined therapy for acute myeloid leukemia due to its modifying effects on all-trans retinoic acid (ATRA) mediated differentiation into granulocytes. To investigate the interaction between cellular...
Tue Jul 02, 2019 00:18
The genetic merit of individuals can be estimated using models with dense markers and pedigree information. Early genomic models accounted only for additive effects. However, the prediction of non-additive effects is important for different forest breeding systems where the whole genotypic value can be captured through clonal propagation. In this study, we evaluated the integration of marker data with pedigree information, in models that included or ignored non-additive effects. We tested the models...
Tue Jul 02, 2019 00:18
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