The distribution of D4Z4 repeats in China and direct prenatal diagnosis of FSHD by optical genome mapping.

Background: Facioscapulohumeral muscular dystrophy (FSHD) is the second most common form of muscular dystrophy, which is characterized by a reduction in the number of D4Z4 repeats on chromosome 4q35. Prenatal diagnosis of FSHD has been challenging due to the large quantity and high-quality DNA required for Southern blot (SB) analysis. Optical genome mapping (OGM) technology has shown promise in identifying repeat contraction disorders and presents a potential tool for the prenatal diagnosis of FSHD.

Optical genome mapping to decipher the chromosomal aberrations in families seeking for preconception genetic counseling.

Optical genome mapping (OGM) offers high consistency in simultaneously detecting structural and copy number variants. This study aimed to retrospectively evaluate the efficacy and potential applications of OGM in preconception genetic counseling. Herein, 74 samples from 37 families were included, and their results of OGM were compared to conventional methods, namely karyotyping (KT) and chromosomal microarray analysis (CMA), which identified 27 variants across 16 positive families.

Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia.

Objective: Congenital diaphragmatic hernia (CDH) is a rare abnormality with highly heterogeneous genetic causes. This study investigated chromosomal and monogenic abnormalities in fetal CDH patients and evaluated the efficacy of chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) for genetic diagnosis. The clinical features of the patients were also evaluated.

Tak1 licenses mitochondrial transfer from astrocytes to POMC neurons to maintain glucose and cholesterol homeostasis.

It remains incompletely understood how the astrocytes in the mediobasal hypothalamus (MBH) regulate systemic glucose and cholesterol metabolism. Here, we show that MBH astrocytic Tak1 (transforming growth factor β [TGF-β]-activated kinase 1) controls the metabolism of glucose and cholesterol. Tak1 is expressed in MBH astrocytes and activated after a short-term nutritional excess.

A module involving HIGH LEAF TEMPERATURE1 controls instantaneous water use efficiency.

Drought stress inhibits plant growth and agricultural production. Improving plant instantaneous water use efficiency (iWUE), which is strictly regulated by stomata, is an effective way to cope with drought stress. However, the mechanisms of iWUE regulation are poorly understood.

Variation in WIDTH OF LEAF AND GRAIN contributes to grain and leaf size by controlling LARGE2 stability in rice.

Grain and flag leaf size are two important agronomic traits that influence grain yield in rice (Oryza sativa). Many quantitative trait loci (QTLs) and genes that regulate these traits individually have been identified, however, few QTLs and genes that simultaneously control these two traits have been identified. In this study, we conducted a genome-wide association analysis in rice and detected a major locus, WIDTH OF LEAF AND GRAIN (WLG), that was associated with both grain and flag leaf width.

The Hypothalamic Epigenetic Landscape in Dietary Obesity.

The hypothalamus in the brain plays a pivotal role in controlling energy balance in vertebrates. Nutritional excess through high-fat diet (HFD) feeding can dysregulate hypothalamic signaling at multiple levels. Yet, it remains largely unknown in what magnitude HFD feeding may impact epigenetics in this brain region.

Thermal Conductivity of 3C/4H-SiC Nanowires by Molecular Dynamics Simulation.

Silicon carbide (SiC) is a promising material for thermoelectric power generation. The characterization of thermal transport properties is essential to understanding their applications in thermoelectric devices. The existence of stacking faults, which originate from the "wrong" stacking sequences of Si-C bilayers, is a general feature of SiC.

Thermal transport across the CoSb-graphene interface.

CoSb shows intrinsically excellent electric transport performance but high thermal conductivity, resulting in low thermoelectric performance. The use of graphene to form heterogeneous interfaces shows great potential for significantly lessening the lattice thermal conductivity () in CoSb-based composites. Molecular dynamics (MD) simulations are carried out in the present work to study the interfacial thermal conductance across the CoSb-graphene interface in the temperature range of 300 K to 800 K.

Association between abnormal expression and methylation of LGALS1 in amyotrophic lateral sclerosis.

Objective: DNA methylation has been identified to play an important role in amyotrophic lateral sclerosis (ALS). Galectin-1, encoded by LGALS1 gene, has been proved to be associated with ALS. We aimed to investigate the association between the expression and methylation of LGALS1 in blood samples from ALS patients.

Genetic analysis of 18 families with tuberous sclerosis complex.

Tuberous sclerosis complex (TSC) is mainly caused by variants in TSC1 and TSC2, which encodes hamartin protein and tuberin protein, respectively. Here, we report clinical and molecular characteristics of 18 families with TSC. High-throughput DNA sequencing was employed to detect variants in all the exons and flanking region of TSC1 and TSC2.

Deficiency of ER Ca sensor STIM1 in AgRP neurons confers protection against dietary obesity.

Store-operated calcium entry (SOCE) is pivotal in maintaining intracellular Ca level and cell function; however, its role in obesity development remains largely unknown. Here, we show that the stromal interaction molecule 1 (Stim1), an endoplasmic reticulum (ER) Ca sensor for SOCE, is critically involved in obesity development. Pharmacological blockade of SOCE in the brain, or disruption of Stim1 in hypothalamic agouti-related peptide (AgRP)-producing neurons (ASKO), significantly ameliorates dietary obesity and its associated metabolic disorders.

Tak1 in the astrocytes of mediobasal hypothalamus regulates anxiety-like behavior in mice.

Anxiety disorder is characterized by excessive fear, anxiety, and avoidance of perceived threats in internal to oneself or the environment, however, the underlying mechanisms are less well understood. Here, we show that transforming growth factor-β-activated kinase 1 (Tak1) expressed in the astrocytes of mediobasal hypothalamus (MBH) plays a crucial role in anxiety-like behavior in mice. Our data demonstrate that deficiency of Tak1 in astrocytes increased anxiety level, but did not impact locomotor activity in mice.

The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China.

Background: Paroxysmal kinesigenic dyskinesia is a spectrum of involuntary dyskinetic disorders with high clinical and genetic heterogeneity. Mutations in proline-rich transmembrane protein 2 have been identified as the major pathogenic factor.

Objectives: We analyzed 600 paroxysmal kinesigenic dyskinesia patients nationwide who were identified by the China Paroxysmal Dyskinesia Collaborative Group to summarize the clinical phenotypes and genetic features of paroxysmal kinesigenic dyskinesia in China and to provide new thoughts on diagnosis and therapy.

Novel mutations in the SPAST gene cause hereditary spastic paraplegia.

Background: Mutations in the SPAST gene are the most frequent cause of hereditary spastic paraplegia (HSP). We aim to extend the mutation spectrum of spastic paraplegia 4 (SPG4) and carried out experiment in vitro to explore the influence of the SPAST gene mutation on the function of corresponding protein.

Methods: Whole-exome sequencing (WES) combined with multiplex ligation-dependent probe amplification (MLPA) were performed in a cohort of 150 patients clinically diagnosed with HSP.

Coherent TiO/BaTiO heterostructure as a functional reservoir and promoter for polysulfide intermediates.

A porous TiO2/BaTiO3 heterostructure composite has been developed as a polysulfide mediator for lithium-sulfur batteries. Superior electrochemical performance has been achieved, mainly attributed to the synergy of TiO2 and BaTiO3 with dual affinity to polysulfides from chemical and ferroelectric-induced polarization effects, and enhanced redox kinetics propelled by the TiO2/BaTiO3 heterojunctions.

Superior Pseudocapacitive Lithium-Ion Storage in Porous Vanadium Oxides@C Heterostructure Composite.

Vanadium oxides are promising anode materials for lithium-ion batteries (LIBs) due to their high capacity, good safety, and low cost. However, their practical application has been deferred by the poor rate capability and cycling stability. In this work, we report the designed synthesis of porous VO/VO@carbon heterostructure electrode for high-performance LIBs.