Botryoidal and spherulitic hematite as experimental evidence of highly acidic conditions in burning coal-waste dumps and potentially on Mars.

In the extreme setting of burning coal-waste dumps in the Upper Silesian Coal Basin in Poland, botryoidal and spherulitic hematite occurs in association with sulphates and chlorides. A series of simple experiments aimed at replicating the conditions leading to the formation of hematite spherules on the burning dumps are described. Goethite synthesised in the laboratory, mixed with various combinations of other reactants, was heated in a heating chamber or a tubular furnace.

Research on the Pathogenesis of Cognitive and Neurofunctional Impairments in Patients with Noonan Syndrome: The Role of Rat Sarcoma-Mitogen Activated Protein Kinase Signaling Pathway Gene Disturbances.

Noonan syndrome (NS) is one of the most common genetic conditions inherited mostly in an autosomal dominant manner with vast heterogeneity in clinical and genetic features. Patients with NS might have speech disturbances, memory and attention deficits, limitations in daily functioning, and decreased overall intelligence. Here, 34 patients with Noonan syndrome and 23 healthy controls were enrolled in a study involving gray and white matter volume evaluation using voxel-based morphometry (VBM), white matter connectivity measurements using diffusion tensor imaging (DTI), and resting-state functional magnetic resonance imaging (rs-fMRI).

Heavy metal- and organic-matter pollution due to self-heating coal-waste dumps in the Upper Silesian Coal Basin (Poland).

This study provides potential insight between self-heating coal-waste dumps and related environmental pollution in southern Poland. Samples collected from dumps in the Upper Silesian Coal Basin were used to quantify released contents of organic- and inorganic pollutants, i.e.

Correction to: Splicing mutations in human genetic disorders: examples, detection, and confirmation.

The original version on this paper contained an error. The first names and last names of Anna Abramowicz and Monika Gos are inadvertently interchanged and are incorrectly displayed in indexing sites. The correct names are presented above.

MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease.

Cardio-facio-cutaneous syndrome (CFCS), a rare congenital disorder of RASopathies, displays high phenotypic variability. Complications during pregnancy and in the perinatal period are commonly reported. Polyhydramnios is observed in over half of pregnancies and might occur with fetal macrocephaly, macrosomia, and/or heart defects.

Splicing mutations in human genetic disorders: examples, detection, and confirmation.

Precise pre-mRNA splicing, essential for appropriate protein translation, depends on the presence of consensus "cis" sequences that define exon-intron boundaries and regulatory sequences recognized by splicing machinery. Point mutations at these consensus sequences can cause improper exon and intron recognition and may result in the formation of an aberrant transcript of the mutated gene. The splicing mutation may occur in both introns and exons and disrupt existing splice sites or splicing regulatory sequences (intronic and exonic splicing silencers and enhancers), create new ones, or activate the cryptic ones.

Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab.

The article summarizes over 20 years of experience of a reference lab in fragile X mental retardation 1 gene (FMR1) molecular analysis in the molecular diagnosis of fragile X spectrum disorders. This includes fragile X syndrome (FXS), fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS), which are three different clinical conditions with the same molecular background. They are all associated with an expansion of CGG repeats in the 5'UTR of FMR1 gene.

[Neurofibromin - protein structure and cellular functions in the context of neurofibromatosis type I pathogenesis].

Neurofibromatosis type I (NF1) is multisystemic disease characterized by pigmentary skin changes, increased susceptibility to tumor formation, neurological deficits and skeletal defects. The disease is a monogenic, autosomal dominant disorder, caused by the presence of mutations in the NF1 gene encoding neurofibromin - a multifunctional regulatory protein. The basic function of neurofibromin protein is modulation of the RAS protein activity necessary for regulation of cell proliferation and differentiation by the RAS/MAPK and RAS/PI3K/AKT signal transduction pathways.

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

Background: Noonan syndrome is an autosomal dominant, multisystemic disorder caused by dysregulation of the RAS/mitogen activated protein kinase (MAPK) pathway. Heterozygous, pathogenic variants in 11 known genes account for approximately 80% of cases. The identification of novel genes associated with Noonan syndrome has become increasingly challenging, since they might be responsible for very small fractions of the cases.

Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease.

Neurofibromatosis type I (NF1) is a disease associated with the presence of benign neurofibromas and malignant tumours of the central and peripheral nervous system, that are accompanied by characteristic changes in the skin, such as café-au-lait spots or axillary freckling. In 50% of NF1 patients, the clinical symptoms become apparent below 1st year and in 97%, before the age of 8 years. The disease is mainly caused by the presence of mutation in the NF1 gene that encodes neurofibromin - a protein involved in the regulation of several cellular signaling pathways responsible for cell proliferation and differentiation.

[RAS/MAPK signal transduction pathway and its role in the pathogenesis of Noonan syndrome].

Noonan syndrome (NS) is one of the most frequent dysmorphic syndromes in children with a frequency of 1/1000-1/2500 of newborns. Noonan syndrome is a multi-organ disease with a broad spectrum of clinical symptoms. The most characteristic features of NS are: craniofacial dysmorphy, short stature, cardiovascular defects, bone and skeletal defects and delayed puberty (cryptorchidism in males).