Strain fingerprinting of exciton valley character in 2D semiconductors.

Intervalley excitons with electron and hole wavefunctions residing in different valleys determine the long-range transport and dynamics observed in many semiconductors. However, these excitons with vanishing oscillator strength do not directly couple to light and, hence, remain largely unstudied. Here, we develop a simple nanomechanical technique to control the energy hierarchy of valleys via their contrasting response to mechanical strain.

Long noncoding RNA expression in acute lymphoblastic leukemia: A systematic review.

Long noncoding RNAs (lncRNAs), as gene expression modulators, are potential players in Acute Lymphoblastic Leukemia (ALL) pathogenesis. We systematically explored current literature on lncRNA expression in ALL to identify lncRNAs consistently reported as differentially expressed (DE) either in ALL versus controls or between ALL subtypes. By comparing articles that provided global expression data for DE lncRNAs in the ETV6::RUNX1-positive ALL subtype, we identified four DE lncRNAs in three independent studies (two versus other subtypes and one versus controls), showing concordant expression of LINC01013, CRNDE and lnc-KLF7-1.

Sequential order dependent dark-exciton modulation in bi-layered TMD heterostructure.

We report the emergence of dark-excitons in transition-metal-dichalcogenide (TMD) heterostructures that strongly rely on the stacking sequence, i.e., momentum-dark K-Q exciton located exclusively at the top layer of the heterostructure.

Exciton transport in atomically thin semiconductors.

Atomically thin semiconductors have been in the center of one of the most active research fields. Here, we discuss the main challenges in exciton transport that is crucial for nanoelectronics. We focus on transport phenomena in monolayers, lateral heterostructures, and twisted heterostacks of transition metal dichalcogenides.

Interface engineering of charge-transfer excitons in 2D lateral heterostructures.

The existence of bound charge transfer (CT) excitons at the interface of monolayer lateral heterojunctions has been debated in literature, but contrary to the case of interlayer excitons in vertical heterostructure their observation still has to be confirmed. Here, we present a microscopic study investigating signatures of bound CT excitons in photoluminescence spectra at the interface of hBN-encapsulated lateral MoSe-WSe heterostructures. Based on a fully microscopic and material-specific theory, we reveal the many-particle processes behind the formation of CT excitons and how they can be tuned via interface- and dielectric engineering.

New Insights on the Regulatory Gene Network Disturbed in Central Areolar Choroidal Dystrophy-Beyond Classical Gene Candidates.

Central areolar choroidal dystrophy (CACD) is a rare hereditary disease that mainly affects the macula, resulting in progressive and usually profound visual loss. Being part of congenital retinal dystrophies, it may have an autosomal dominant or recessive inheritance and, until now, has no effective treatment. Given the shortage of genotypic information about the disease, this work systematically reviews the literature for CACD-causing genes.

Dark exciton anti-funneling in atomically thin semiconductors.

Transport of charge carriers is at the heart of current nanoelectronics. In conventional materials, electronic transport can be controlled by applying electric fields. Atomically thin semiconductors, however, are governed by excitons, which are neutral electron-hole pairs and as such cannot be controlled by electrical fields.

Non-equilibrium diffusion of dark excitons in atomically thin semiconductors.

Atomically thin semiconductors provide an excellent platform to study intriguing many-particle physics of tightly-bound excitons. In particular, the properties of tungsten-based transition metal dichalcogenides are determined by a complex manifold of bright and dark exciton states. While dark excitons are known to dominate the relaxation dynamics and low-temperature photoluminescence, their impact on the spatial propagation of excitons has remained elusive.

Electron Dynamics in a Two-Dimensional Nanobubble: A Two-Level System Based on Spatial Density.

Nanobubbles formed in monolayers of transition metal dichalcogenides (TMDCs) on top of a substrate feature localized potentials in which electrons can be captured. We show that the captured electronic density can exhibit a nontrivial spatiotemporal dynamics, whose movements can be mapped to states in a two-level system illustrated as points of an electronic Poincaré sphere. These states can be fully controlled, i.

Nonclassical Exciton Diffusion in Monolayer WSe_{2}.

We experimentally demonstrate time-resolved exciton propagation in a monolayer semiconductor at cryogenic temperatures. Monitoring phonon-assisted recombination of dark states, we find a highly unusual case of exciton diffusion. While at 5 K the diffusivity is intrinsically limited by acoustic phonon scattering, we observe a pronounced decrease of the diffusion coefficient with increasing temperature, far below the activation threshold of higher-energy phonon modes.

Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort.

Oculocutaneous albinism (OCA) is a genetic disorder characterized by skin, hair, and eye hypopigmentation due to a reduction or absence of melanin. Clinical manifestations include vision problems and a high susceptibility to skin cancer. In its non-syndromic form, OCA is associated with six genes and one chromosomal region.

Negative effective excitonic diffusion in monolayer transition metal dichalcogenides.

While exciton relaxation in monolayers of transition metal dichalcogenides (TMDs) has been intensively studied, spatial exciton diffusion has received only a little attention - in spite of being a key process for optoelectronics and having already shown interesting unconventional behaviours (e.g. spatial halos).

Penetrance of the R337H Mutation and Pediatric Adrenocortical Carcinoma Incidence Associated with Environmental Influences in a 12-Year Observational Cohort in Southern Brazil.

The R337H mutation is associated with increased incidence of pediatric adrenocortical tumor (ACT). The different environmental conditions where R337H carriers live have not been systematically analyzed. Here, the R337H frequencies, ACT incidences, and R337H penetrance for ACT were calculated using the 2006 cohort with 4165 R337H carriers living in Paraná state (PR) subregions.

The Prognostic Role of CD8 T Lymphocytes in Childhood Adrenocortical Carcinomas Compared to Ki-67, PD-1, PD-L1, and the Weiss Score.

Adrenocortical carcinoma (ACC) is a rare disease among children. Our goal was to identify prognostic biomarkers in 48 primary ACCs from children (2.83 ± 2.

Exciton Propagation and Halo Formation in Two-Dimensional Materials.

The interplay of optics, dynamics, and transport is crucial for the design of novel optoelectronic devices, such as photodetectors and solar cells. In this context, transition-metal dichalcogenides (TMDs) have received much attention. Here, strongly bound excitons dominate optical excitation, carrier dynamics, and diffusion processes.

Spatial trends in congenital malformations and stream water chemistry in Southern Brazil.

The incidence of variable congenital malformation (CM) among 399 municipalities in the state of Paraná, southern Brazil, suggests the etiological role of environmental factors. This study examined a) environmental concentrations of chlorine anions (Cl) associated with organochlorines (OCs) and b) associations between these chemicals and agricultural output with CMs using a geographical information system. In one of the three years during the sampling period (2008, 2009 or 2010) Cl, dichlorodiphenyltrichloroethane (p,p'-DDT), dichlorodiphenyldichloroethylene (p,p'-DDE), dichlorodiphenyldichloroethane (p,p'-DDD), and endosulfan levels were measured in 465 (465/736, 63%) catchment basins.

Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors.

Purpose: The incidence of pediatric adrenocortical tumors (ACTs) is remarkably high in southern Brazil, where more than 90% of patients carry the germline TP53 mutation R337H. We assessed the impact of early detection of this mutation and of surveillance of carriers.

Patients And Methods: Free newborn screening was offered at all hospitals in the state of Paraná.

Controversies about the chromosomal stability of cultivated mesenchymal stem cells: their clinical use is it safe?

The usefulness of adult stem cells in research and therapeutic applications highly relies on their genomic integrity and stability. Many laboratories including ours have addressed this concern using methods such as karyotyping, Qbanding, fluorescent in situ hybridization, array CGH, flow cytometry and Pap test to evaluate number and structure of chromosomes and cellular phenotype. This review attempts to summarize the findings reported so far for the studies on chromosomal aberrations in adult stem cells and warrant to perform certain basic tests before transplantation to avoid any adverse reactions, which will thus aid in better therapeutic output after cellular transplantation in the treatment of various diseases.

Identity by descent mapping of founder mutations in cancer using high-resolution tumor SNP data.

Dense genotype data can be used to detect chromosome fragments inherited from a common ancestor in apparently unrelated individuals. A disease-causing mutation inherited from a common founder may thus be detected by searching for a common haplotype signature in a sample population of patients. We present here FounderTracker, a computational method for the genome-wide detection of founder mutations in cancer using dense tumor SNP profiles.

SNP array profiling of childhood adrenocortical tumors reveals distinct pathways of tumorigenesis and highlights candidate driver genes.

Context: Childhood adrenocortical tumors (ACT) are rare malignancies, except in southern Brazil, where a higher incidence rate is associated to a high frequency of the founder R337H TP53 mutation. To date, copy number alterations in these tumors have only been analyzed by low-resolution comparative genomic hybridization.

Objective: We analyzed an international series of 25 childhood ACT using high-resolution single nucleotide polymorphism arrays to: 1) detect focal copy number alterations highlighting candidate driver genes; and 2) compare genetic alterations between Brazilian patients carrying the R337H TP53 mutation and non-Brazilian patients.

NPM1 deletion is associated with gross chromosomal rearrangements in leukemia.

Background: NPM1 gene at chromosome 5q35 is involved in recurrent translocations in leukemia and lymphoma. It also undergoes mutations in 60% of adult acute myeloid leukemia (AML) cases with normal karyotype. The incidence and significance of NPM1 deletion in human leukemia have not been elucidated.

Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage.

The Li-Fraumeni syndrome (LFS) is a rare autosomal dominant hereditary cancer syndrome, characterized by a wide spectrum of neoplasms, occurring in children and young adults. The identification of germline TP53 mutations in LFS has given rise to a number of in vitro studies using cultures of cancer cells and non-tumoral fibroblasts presenting germline TP53 mutations. In the present study, we performed a detailed documentation of the pedigree of an LFS family with a comprehensive analysis of genotype-phenotype correlations.

A NUP98-positive acute myeloid leukemia with a t(11;12)(p15;q13) without HOXC cluster gene involvement.

We report a case of adult acute myeloid leukemia with a new t(11;12)(p15;q13) underlying a NUP98 rearrangement without HOXC cluster gene involvement. We designed a specific double-color double-fusion FISH assay to discriminate between this t(11;12)(p15;q13) and those producing NUP98-HOXC11 or NUP98-HOXC13. Our fluorescence in situ hybridization (FISH) showed that putative candidate partners mapping 600 kilobases centromeric to HOXC were RARG (retinoic acid receptor gamma), MFSD5 (major facilitator superfamily domain containing 5), and ESPL1 (extra spindle pole bodies homolog 1).

Myeloid cell differentiation arrest by miR-125b-1 in myelodysplastic syndrome and acute myeloid leukemia with the t(2;11)(p21;q23) translocation.

Most chromosomal translocations in myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) involve oncogenes that are either up-regulated or form part of new chimeric genes. The t(2;11)(p21;q23) translocation has been cloned in 19 cases of MDS and AML. In addition to this, we have shown that this translocation is associated with a strong up-regulation of miR-125b (from 6- to 90-fold).

High frequency of loss of heterozygosity at 11p15 and IGF2 overexpression are not related to clinical outcome in childhood adrenocortical tumors positive for the R337H TP53 mutation.

A germline TP53 R337H mutation is present in childhood adrenocortical tumors (ACT) from southern Brazil. Other genetic alterations are also frequently found in these tumors. This study was designed to assess whether alterations of the 11p15 region exist in childhood ACT, accounting for IGF2 overexpression in these tumors, and how they are related to clinical outcome.