Publications by authors named "TILL M"

Article Synopsis
  • Tatton-Brown-Rahman syndrome (TBRS) is a genetic disorder characterized by overgrowth, intellectual disability, and distinct facial features, resulting from mutations in a gene that regulates DNA methylation.* -
  • A study of 24 French patients identified 17 new genetic variants, confirming that 100% showed intellectual disability, 96% had distinctive facial traits, and 87% exhibited overgrowth, alongside novel symptoms like hypertrichosis.* -
  • The findings enhance the understanding of TBRS's clinical presentation, aiding in diagnosis and patient care by clarifying its genetic and phenotypic diversity.*
View Article and Find Full Text PDF
Article Synopsis
  • Xq28 int22h-1/int22h-2 duplication results from recombination between specific genetic repeats and is linked to a form of intellectual disability along with recurrent infections and atopic diseases.
  • In a study involving 15 families, many carriers exhibited mild or no symptoms, suggesting that the condition can manifest variably.
  • The findings point towards potential incomplete penetrance, meaning not all carriers show obvious signs of the condition, indicating a need for further research to understand the genetic implications better.
View Article and Find Full Text PDF
Article Synopsis
  • - Cat Eye Syndrome (CES) is a rare genetic disorder linked to a marker chromosome from chromosome 22, leading to diverse symptoms including iris coloboma, anal atresia, and preauricular tags, but these are present in less than half of the cases.
  • - An international study of 43 CES patients found that only 16% displayed all three classic symptoms, while 9% showed none; additional issues such as cardiac anomalies (51%) and intellectual disabilities (47%) were also common.
  • - The study highlights the significance of supernumerary marker chromosomes (sSMC), found in 91% of cases, with many parents showing mild traits, emphasizing the need for genetic counseling regarding recurrence risks.
View Article and Find Full Text PDF
Article Synopsis
  • This study focuses on the gene RAB11B, which has been linked to severe intellectual disability, aiming to validate its role in neurodevelopmental disorders.* -
  • Researchers identified seven new individuals with genetic variants in RAB11B, analyzing their clinical features and using molecular modeling to understand the structural effects of these variants.* -
  • Findings indicate a strong correlation between the specific genetic variants and the severity of symptoms, with certain mutations linked to more severe disabilities while others lead to milder issues like epilepsy.*
View Article and Find Full Text PDF
Article Synopsis
  • Chromoanagenesis is a cellular process causing complex chromosomal rearrangements during a significant event, potentially leading to genetic material loss or gain and various traits, typically occurring sporadically but can also be inherited.
  • In a study involving six families, researchers investigated how asymptomatic parents passed on these rearrangements to their children, using karyotyping, fluorescent in situ hybridization, chromosomal microarray, and whole genome sequencing to analyze the chromosomal changes.
  • The findings suggest that chromoanagenesis can occur without affecting the parent's health or fertility, and prenatal testing using chromosomal microarray is recommended to identify any genetic imbalances in offspring from these families.
View Article and Find Full Text PDF

While recent technological developments contributed to breakthrough advances in single particle cryo-electron microscopy (cryo-EM), sample preparation remains a significant bottleneck for the structure determination of macromolecular complexes. A critical time factor is sample optimization that requires the use of an electron microscope to screen grids prepared under different conditions to achieve the ideal vitreous ice thickness containing the particles. Evaluating sample quality requires access to cryo-electron microscopes and a strong expertise in EM.

View Article and Find Full Text PDF

Objective: The aim of this paper was to develop a framework for the use of the capability approach in health promotion projects, which could guide future projects as well as improve the comparability of the projects' effectiveness.

Method: The study involved a three-stage process comprising a total of six steps. We first developed a theoretical model and then analyzed data from four empirical studies that had implemented projects using the capability approach between 2015 and 2018 in the settings of kindergartens, schools, vocational training, and communities to promote an active lifestyle.

View Article and Find Full Text PDF

Organophosphorus compounds (OPCs) are highly important chemicals, finding numerous applications in both academia and industry. Herein we describe a simple photocatalytic method for the stannylation of white phosphorus (P) using a cheap, commercially-available distannane, (BuSn), and anthraquinone as a simple photocatalyst. Subsequent 'one pot' transformation of the resulting stannylated monophosphine intermediate (BuSn)P provides direct, convenient and versatile access to valuable OPCs such as acylated phosphines and tetraalkylphosphonium salts.

View Article and Find Full Text PDF

Introduction: Physical inactivity is a major risk factor for a population's health, especially among socially disadvantaged groups. Many health promotion projects focus on increasing physical activity among their respective target groups. However, because they are mostly developed and implemented under laboratory conditions, they fail when being scaled to real-world settings.

View Article and Find Full Text PDF

Background: The range of options people have to do the things they value in life may have strong effects on their well-being. This is especially true for young adults, as their opportunities and choices may affect both their current and future lives. This study follows Sen's capability approach (CA) to assess young people's well-being in terms of capabilities and functionings.

View Article and Find Full Text PDF
Article Synopsis
  • * Researchers analyzed ultrasound data from 22 fetuses with the 6qter deletion, finding significant brain abnormalities such as cerebellar hypoplasia and ventricular enlargement, alongside other structural issues.
  • * The results reveal common prenatal sonographic markers for the 6q deletion syndrome and underscore the need for chromosomal microarray analysis to detect related genetic deletions in cases with observed malformations.
View Article and Find Full Text PDF

Chlorobenzenes are important starting materials for the preparation of commercially valuable triarylphosphines and tetraarylphosphonium salts, but their use for the direct arylation of elemental phosphorus has been elusive. Here we describe a simple photochemical route toward such products. UV-LED irradiation (365 nm) of chlorobenzenes, white phosphorus (P) and the organic superphotoreductant tetrakis(dimethylamino)ethylene (TDAE) affords the desired arylphosphorus compounds in a single reaction step.

View Article and Find Full Text PDF

Pristine sub-Antarctic islands terrestrial ecosystems, including many endemic species, are highly threatened by human-induced cosmopolitan plant invasion. We propose that native plant suppression could be further facilitated by the subsequent invasion by generalist pest species that could exacerbate their competitive exclusion through the process of apparent competition. By comparing the biological parameters of an invasive aphid species, Myzus ascalonicus, on one native (Acaena magellanica) and one invasive (Senecio vulgaris) plant species, we showed that survival and fecundity were higher and development time lower on the native plant species than on the invasive one.

View Article and Find Full Text PDF

Congenital combined vitamin K-dependent clotting factors deficiency (VKCFD) is a rare autosomal recessive disease resulting in hemorrhagic symptoms usually associated with developmental disorders and bone abnormalities. Pathogenic variants in two genes encoding enzymes of the vitamin K cycle, GGCX and VKORC1, can lead to this disorder. We present the case of a male fetus with a brachytelephalangic chondrodysplasia punctata (CDP), absence of nasal bone, growth restriction, and bilateral ventriculomegaly at 18 weeks of gestation.

View Article and Find Full Text PDF

In the European Union a disease is classified as rare if it affects no more than 5 out of 10,000 people. Currently, there are more than 6000 rare diseases, consisting of a large and heterogeneous number of different diseases that are complex in their symptomatology, multidimensional and therefore difficult to classify in everyday medical practice. This complicates the diagnosis and treatment as well as finding a suitable contact person, as there are only a few experts for each individual rare disease.

View Article and Find Full Text PDF

To tackle complex societal challenges such as the high prevalence of physical inactivity, research funding is increasingly channeled toward cross-disciplinary research consortia. This study focused on exchange and cooperation (E&C) among the scientists of a 5-year transdisciplinary research initiative in Germany. Researchers' perceptions of E&C were combined with numbers of collaborative products during the project's life to make the developments of E&C and the quality of collaborative products visible.

View Article and Find Full Text PDF

The divalent iron complexes [FeBr(BINC)], [Cp*FeCl(BINC)] (Cp* = MeC), and [FeBr(CNArNC)] with the chelating bis(isonitrile) ligands BINC (bis(2-isocyanophenyl)phenylphosphonate) and CNArNC (2,2″-diisocyano-3,5,3″,5"tetramethyl-1,1':3',1″-terphenyl) have been prepared and characterized. Their subsequent reduction yields the di- and trinuclear compounds [Fe(BINC)], [Cp*Fe(BINC)], [Fe(CNArNC)], and [K(EtO)][Fe(CNArNC)]. The molecular structures of all new species were determined by X-ray crystallography and compared to those of related iron carbonyl complexes, demonstrating that the bidentate isonitrile ligands are capable surrogates for two CO ligands with only minimal distortion of the tetrahedral or octahedral geometry of the parent complexes.

View Article and Find Full Text PDF

Community-based participatory research (CBPR) is considered to be of high potential for health promotion among socially disadvantaged groups. However, the long-term implementation and transfer of these approaches remain challenging, and the public health impact they achieve is difficult to study. This also pertains to the potential health effects and cost-effectiveness of CBPR.

View Article and Find Full Text PDF
Article Synopsis
  • * A study investigated 13 missense variants of PTCHD1, including both previously known and novel mutations found in male patients with intellectual disability (ID) and autism spectrum disorder (ASD).
  • * Functional tests revealed that six of these variants disrupt PTCHD1 protein levels and cause retention in the endoplasmic reticulum, indicating they may be pathogenic and supporting PTCHD1's role in ID and ASD.
View Article and Find Full Text PDF

Background: The capability approach by Amartya Sen and Martha Nussbaum has gained increasing attention in the field of public health. As it combines individual, social and structural factors and shifts the focus of attention from the actual behavior towards available options for health behaviors that people can actually choose from, it may help advance our understanding of complex health issues.

Objectives: The aim of this article is to identify and describe tools available to measure capabilities within the context of health, with a specific focus on capabilities for health-enhancing physical activity.

View Article and Find Full Text PDF

Complex polyketides of bacterial origin are biosynthesised by giant assembly-line like megaenzymes of the type 1 modular polyketide synthase (PKS) class. The trans-AT family of modular PKSs, whose biosynthetic frameworks diverge significantly from those of the archetypal cis-AT type systems represent a new paradigm in natural product enzymology. One of the most distinctive enzymatic features common to trans-AT PKSs is their ability to introduce methyl groups at positions β to the thiol ester in the growing polyketide chain.

View Article and Find Full Text PDF
Article Synopsis
  • - Mosaic Variegated Aneuploidy Syndrome (MVA) is a rare genetic disorder that leads to a mix of abnormal chromosome numbers in different tissues, resulting in symptoms like growth retardation, microcephaly, and learning disabilities.
  • - Two adult brothers with MVA, born to related Moroccan parents, exhibited severe growth issues, facial differences, and skeletal and dental problems, along with specific chromosome alterations identified in their blood.
  • - A genetic duplication in the CEP57 gene was found in both brothers, suggesting a possible mechanism behind this duplication called FoSTeS, and highlighting the importance of genetic testing for patients with such symptoms.
View Article and Find Full Text PDF
Article Synopsis
  • The report details a case of a 19-year-old male with mosaic trisomy 13, characterized by various health issues including intellectual disability and heart defects.
  • Genetic analysis revealed that the patient has some cells with an extra chromosome from a nonreciprocal translocation inherited from his healthy mother.
  • This is only the second known instance of a patient with trisomy 13 mosaicism experiencing severe aortic root dilation, and the authors explore potential mechanisms behind the mosaic condition, particularly the instability of interstitial telomeres.
View Article and Find Full Text PDF
Article Synopsis
  • Structural variants (SVs), like copy number variants (CNVs) and balanced chromosome rearrangements (ABCRs), are often difficult to detect using traditional short-read sequencing methods due to repetitive sequences, which makes long-read technologies like 10X Genomics' Chromium an interesting alternative.* -
  • In a study involving 13 patients, short-read sequencing successfully identified known SVs in 10 of them, while the linked-read technology also detected 10 SVs, including one additional variant missed by the short-read method.* -
  • Ultimately, the study concluded that the 10X Genomics linked-read strategy did not significantly enhance the detection or characterization of SVs compared to the short-read sequencing approach.*
View Article and Find Full Text PDF