Clinical and genetic analysis of 18 patients with mutations from South China.

Background: We aimed to delineate the genotype and phenotype of patients with KCNQ2 mutations from South China.

Methods: Clinical manifestations and characteristics of KCNQ2 mutations of patients from South China were analyzed. Previous patients with mutations detected in this study were reviewed.

Plcz1 Deficiency Decreased Fertility in Male Mice Which Is Associated with Sperm Quality Decline and Abnormal Cytoskeleton in Epididymis.

Phospholipase C zeta1 (Plcz1) was known to be a physiological factor in sperm that activates oocytes to complete meiosis by triggering Ca oscillations after fertilisation. However, the role of male Plcz1 in spermatogenesis and early embryo development in progeny has been controversial. Plcz1 knockout () mouse model ( and ) was generated by using the CRISPR-Cas9 system.

Genotype-phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus-merzbacher disease.

Background: The natural history and genotype-phenotype correlation of Pelizaeus-Merzbacher disease (PMD) of Chinese patients has been rarely reported.

Method: Patients who met the criteria for PMD were enrolled in our study. Genomic analysis was conducted by multiplex ligation probe amplification (MLPA) and Sanger or whole-exome sequencing (WES).

[Soil organic and inorganic carbon pools as affected by straw return modes under a wheat-maize rotation system in the Guanzhong Plain, Northwest China].

To understand the effects of straw return modes on soil carbon pools, we investigated total soil organic carbon (SOC), labile organic carbon fractions, and inorganic carbon (SIC) in different straw return modes at a depth of 0-40 cm under a maize-wheat cropping system in the Guanzhong Plain, Shaanxi, based on an 11-year field experiment. There were five straw return modes, ., no return of straw of both wheat and maize (CK), the retention of high wheat stubble plus the return of chopped maize straw (WH-MC), the return of both chopped wheat and maize straw (WC-MC), the retention of high wheat stubble and no return of maize straw (WH-MN), and the return of chopped wheat straw and no return of maize straw (WC-MN).

Novel Insight into the Potential Pathogenicity of Mitochondrial Dysfunction Resulting from PLP1 Duplication Mutations in Patients with Pelizaeus-Merzbacher Disease.

Among the hypomyelinating leukodystrophies, Pelizaeus-Merzbacher disease (PMD) is a representative disorder. The disease is caused by different types of PLP1 mutations, among which PLP1 duplication accounts for ∼70% of the mutations. Previous studies have shown that PLP1 duplications lead to PLP1 retention in the endoplasmic reticulum (ER); in parallel, recent studies have demonstrated that PLP1 duplication can also lead to mitochondrial dysfunction.

Chromosome-scale genome assembly of brown-spotted flathead sp.1 provides insights into demersal adaptation in flathead fish.

Flatheads are valuable commercial fish species endemic to the Indo-West Pacific. Due to their economic value and unique biological traits, such as metamorphosis and camouflage, they serve as ideal marine organisms for studies on demersal adaptation and evolution. The brown-spotted flathead ( sp.

Ca transfer via the ER-mitochondria tethering complex in neuronal cells contribute to cadmium-induced autophagy.

Mitochondrial-associated endoplasmic reticulum (ER) membranes (MAMs) play a key role in several physiological functions, including calcium ion (Ca) transfer and autophagy; however, the molecular mechanism controlling this interaction in cadmium (Cd)-induced neurotoxicity is unknown. This study shows that Cd induces alterations in MAMs and mitochondrial Ca levels in PC12 cells and primary neurons. Ablation or silencing of mitofusin 2 (Mfn2) in PC12 cells or primary neurons blocks the colocalization of ER and mitochondria while reducing the efficiency of mitochondrial Ca uptake.

Synthesis of the Platinum Nanoribbons Regulated by Fluorine and Applications in Electrocatalysis.

Controlling the morphology of highly homogeneous nanoribbons is one of the main goals for synthesizing catalysts with excellent activity and durability. In this Communication, platinum (Pt) nanoribbons were synthesized by a one-pot method. We used ammonium fluoride (NHF) as the regulator, under 8 atm of hydrogen (H), to synthesize zigzag-shaped two-dimensional Pt nanoribbons.

Complete chloroplast genome sequence and phylogenetic analysis of (Bambusoideae).

is an ornamental shrubby bamboo endemic to southern China. In this study, the complete chloroplast genome (cpDNA) sequence of was first reported. The cpDNA is 139,594 bp in length, including a small single-copy (SSC) region of 12,820 bp and a large single-copy (LSC) region of 83,196 bp, which were separated by a pair of inverted repeat (IR) regions of 21,789 bp.

One-pot Synthesis of Pd/Azo-polymer as an Efficient Catalyst for 4-Nitrophenol Reduction and Suzuki-Miyaura Coupling Reaction.

The porous polymer matrix with good stability and confined microenvironment is considered as ideal support to stabilize isolated metal centers for catalysis. Herein, we report a "one-pot" method to prepare a kind of palladium complexed with azo porous organic polymer nanospheres (Pd-azo-POPs). The method combines the synthesis of azo-POPs with the reduction of the Pd ion, where azo serves as an anchoring group to limit the growth of Pd.

Ultrathin amorphous iron-doped cobalt-molybdenum hydroxide nanosheets for advanced oxygen evolution reactions.

Developing the highly efficient and low-cost electrocatalysts for the oxygen evolution reactions (OERs), as vital half reactions of water splitting, is crucial for renewable energy technology. The electrocatalysts based on multi-component and hierarchically structured non-noble metal hydr(oxy)oxide materials are of great prospects. Herein, we report an efficient strategy at low temperatures for synthesizing amorphous iron-doped cobalt-molybdenum ultrathin hydroxide (Fe-CoMo UH) nanosheets.

The complete chloroplast genome of (Bambusoideae), a dominant bamboo species in limestone mountains endemic to China.

is a dominant species in limestone mountains endemic to China. Here, we characterized its complete chloroplast genome. It is a circular DNA molecule of 139,689 bp in length, including a pair of 21,798 bp inverted repeats (IRs), a 12,872 bp small single-copy (SSC) region and an 83221 bp large single-copy (LSC) region.

Electronic modulation of nickel selenide by copper doping and carbon coating towards high-rate and high-energy density lithium ion half/full batteries.

Over the past decades, metal selenides have drawn considerable attention due to their high theoretical specific capacity. However, huge volume changes and sluggish electrochemical transfer kinetics hinder their applications in energy storage and conversion. In this work, we demonstrate an efficient and ingenious synthesis strategy to regulate nickel selenide electrodes by the introduction of copper and in situ coating with carbon (Cu-NiSe2@C).

Cadmium induces mitophagy via AMP-activated protein kinases activation in a PINK1/Parkin-dependent manner in PC12 cells.

Objectives: Cadmium (Cd) induces mitophagy in neuronal cells, but the underlying mechanisms remain unknown. In this study, we aimed to investigate these mechanisms.

Materials And Methods: The effects of Cd on the mitophagy in rat pheochromocytoma PC12 cells were detected, and the role of PINK1/Parkin pathway in Cd-induced mitophagy was also analysed by using PINK1 siRNA.

Epilepsy in children with leukodystrophies.

Background: Epilepsy might be one of the manifestations in children with leukodystrophies, but the incidence of epilepsy in different types of leukodystrophies is unclear yet.

Methods: A retrospective observational cohort study was performed on children diagnosed with leukodystrophies in Peking University First Hospital from January 2004 to June 2019, and the patients were followed for 5.5 years (0.

[Analysis of D4Z4 mutation in a child with facioscapulohumeral muscular dystrophy presented initially as mental retardation].

Objective: To identify pathological mutation of D4Z4 in a child with facioscapulohumeral muscular dystrophy (FSHD) presented initially as mental retardation.

Methods: Wechsler Intelligence Scale for Children Revised in China (WISC-IV) was used to assess the patient's IQ. Other clinical data was also collected.

Delayed diagnosis of X-linked agammaglobulinaemia in a boy with recurrent meningitis.

Background: X-linked agammaglobulinaemia (XLA) is a rare inherited primary immunodeficiency disease characterized by the B cell developmental defect, caused by mutations in the gene coding for Bruton's tyrosine kinase (BTK), which may cause serious recurrent infections. The diagnosis of XLA is sometimes challenging because a few number of patients have higher levels of serum immunoglobulins than expected. In this study, we reported an atypical case with recurrent meningitis, delayed diagnosis with XLA by genetic analysis at the second episode of meningitis at the age of 8 years.

Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models.

Background: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare neurological degenerative disorder caused by the mutations of MLC1 or GLIALCAM with autosomal recessive or autosomal dominant inheritance and a different prognosis, characterized by macrocephaly, delayed motor and cognitive development, and bilateral abnormal signals in cerebral white matter (WM) with or without cysts on magnetic resonance imaging (MRI). This study aimed to reveal the clinical and genetic features of MLC patients with GLIALCAM mutations and to explore the brain pathological characteristics and prognosis of mouse models with different modes of inheritance.

Methods: Clinical information and peripheral venous blood were collected from six families.

Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene.

Background: Intellectual disability/developmental delay is a complex condition with extraordinary heterogeneity. A large proportion of patients lacks a specific diagnosis. Next generation sequencing, enabling identification of genetic variations in multiple genes, has become an efficient strategy for genetic analysis in intellectual disability/developmental delay.

Theoretical and Experimental Study of Reversible and Stable Wetting States of a Hierarchically Wrinkled Surface Tuned by Mechanical Strain.

The wetting behavior of hierarchically wrinkled surfaces has attracted great interest because of its broad application in flexible electronic, microfluidic chip, and biomedicine. However, theoretical studies concerning the relationship between the apparent contact angle and mechanical strain applied on the soft and flexible surface with a hierarchically wrinkled structure are still limited. We established a theoretical framework to describe and understand how prestrain and applied dynamic strain reversibly tune the wettability of the hierarchically wrinkled surface.

Identification of Novel Mutations in Chinese Patients with Metachromatic Leukodystrophy.

Objective: Metachromatic leukodystrophy (MLD) is an inherited disease caused by a deficiency of the enzyme arylsulfatase A (ARSA) that leads to severe physiologic and developmental problems. Our study is aimed at elucidating the clinical and genetic characteristics of Chinese MLD patients.

Methods: Clinical data of 21 MLD patients was collected.

Effects of different forage combinations in total mixed rations on in vitro gas production kinetics, ruminal and milk fatty acid profiles of lactating cows.

This study aimed to determine the effects of different forage combinations on in vitro gas production (GP) kinetics, ruminal and milk fatty acid profiles. Forty-five lactating cows were randomly arranged into three groups and fed three total mixed rations (TMRs) with different forage combinations: TMR1, 23% alfalfa hay, 7% Chinese wild ryegrass hay and 15% whole corn silage; TMR2, 30% corn stover plus 15% whole corn silage; TMR3, 30% rice straw plus 15% whole corn silage. In vitro dry matter disappearance ranked: TMR1 > TMR2 > TMR3, and highest cumulative GP and asymptotic GP occurred in TMR1 while no difference occurred between TMR2 and TMR3.

Comparative transcriptomic analysis of two important life stages of Angiostrongylus cantonensis: fifth-stage larvae and female adults.

The mechanisms involved in the fast growth of Angiostrongylus cantonensis from fifth-stage larvae (L5) to female adults and how L5 breaks through the blood-brain barrier in a permissive host remain unclear. In this work, we compared the transcriptomes of these two life stages to identify the main factors involved in the rapid growth and transition to adulthood. RNA samples from the two stages were sequenced and assembled de novo.