[Ecological network optimization of Jiuquan City, Gansu, China based on complex network theory and circuit model].

Building a scientific and reasonable ecological network is the key for optimizing the pattern of territorial development and protection, and is of great significance for ensuring regional ecological security and promoting the virtuous cycle of ecosystems. In previous studies, nodal attack method (destruction of ecological source area) was often used in the "robustness" evaluation of ecological networks. Actually, the ecological corridor is more fragile than the source area, and thus the nodal attack method is not reasonable.

[Diagnosis of a case with Hermansky-Pudlak syndrome type 5 through high-throughput sequencing and a literature review].

Objective: To explore the clinical and genetic characteristics of a patient with Hermansky-Pudlak syndrome type 5 (HPS-5).

Methods: A child with HPS-5 who had attended the Children's Hospital Affiliated to Shandong University on October 3, 2019 was selected as the study subject. Clinical data of the child were collected.

Mining and modification of Oryza sativa-derived squalene epoxidase for improved β-amyrin production in Saccharomyces cerevisiae.

β-Amyrin is a pentacyclic triterpenoid and has anti-viral, anti-bacterial and anti-inflammatory activities. The synthetic pathway of β-amyrin has been analyzed and its heterogeneous synthesis has been achieved in Saccharomyces cerevisiae. Squalene epoxidase (SQE) catalyzes the oxygenation of squalene to form 2,3-oxidosqualene and is rate-limiting in the synthetic pathways of β-amyrin.

[Clinical characteristics and genetic analysis of two children with Autosomal dominant mental retardation type 21 due to variants of CTCF gene].

Objective: To explore the clinical and genetic characteristics of two children with developmental delay.

Methods: Two children who had presented at the Children's Hospital Affiliated to Shandong University on August 18, 2021 were enrolled as the study subjects. Clinical and laboratory examination, chromosomal karyotyping and high-throughput sequencing were carried out for both children.

Mutational Characteristics of Causative Genes in Chinese Hereditary Spherocytosis Patients: a Report on Fourteen Cases and a Review of the Literature.

Hereditary spherocytosis (HS), characterized by the presence of spherocytic red cells in peripheral blood, hemolysis, splenomegaly, jaundice, and gallstones, is a common form of inherited hemolytic anemia (HA). To date, five causative genes associated with HS have been identified, including , and . Clinically suspected patients with HS or undiagnosed HA from 14 Chinese families were enrolled in this study.

[Analysis of clinical and genetic characteristics of a child with ring chromosome 4 syndrome].

Objective: To explore the genetic basis for a child featuring short stature.

Methods: G-banded karyotyping, chromosomal microarray analysis (CMA) and high-throughput sequencing were carried out on peripheral blood sample from the child.

Results: The karyotype of the child was ascertained as 45,XY,-4[3]/46,XY,r(4)(p16q35)[84]/47,XY,-4,r(4)(p16q25)*2[7]/48,XY,-4,r(4)(p16q35)*3[1]/46,XY,dic r(4;4)(p16q35;p16q35)[2]/46,XY,add(4)(p16)[3].

Structural Evolution and Optical Property Tunability by Halogen Substitution in [N(CH)]MX (M = Ga, In, X = Cl, Br): A Family of Organically Templated Metal Halides.

Structural transformation in hybrid halides is an attractive way to modulate and improve their optical properties. Following newly reported monovalent-metal-based organic-inorganic chlorides [N(CH)]MCl (M = Ga, In), their bromide analogues [N(CH)]MBr (M = Ga, In) were subsequently synthesized. Impressively, their structure transforms from noncentrosymmetric 4̅2 space group for chlorides to centrosymmetric 4/ space group for bromides.

[Clinical and genetic analysis of a patient with rare nephronophthisis].

Objective: To explore the genetic basis for a child with clinically suspected nephronophthisis (NPHP).

Methods: Peripheral blood samples of the patient and her parents were collected subjected to high-throughput sequencing. Sanger sequencing was used to verify the gene variants.

[Variant analysis of CCBE1 gene in a case of Hennekam lymphangiectasia-lymphedema syndrome type 1].

Objective: To explore the genetic etiology of a child with lymphangiectasia and lymphedema.

Methods: DNA sample of the patient was extracted and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing.

An integration-free iPSC line SDQLCHi025-A from a girl with multiminicore disease carrying compound heterozygote mutations in RYR1 gene.

Peripheral blood mononuclear cells for reprogramming in this work were donated by a girl with clinically and genetically diagnosed multiminicore disease harboring compound heterozygote mutations of RYR1 gene. Induced pluripotent stem cells (iPSCs) were obtained by non-integrating episomal vectors containing OCT4, SOX2, KLF4, BCL-XL and c-MYC. The iPSC line (SDQLCHi025-A) presented pluripotent cell morphology, high mRNA levels of pluripotency markers, differentiation potential in vitro, a normal karyotype, and carrying RYR1 gene mutations.

Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing.

Muscular dystrophy (MD) includes multiple types, of which dystrophinopathies caused by () mutations are the most common types in children. An accurate identification of the causative mutation at the genomic level is critical for genetic counseling of the family, and analysis of genotype-phenotype correlations, as well as a reference for the development of gene therapy. Totally, 70 Chinese families with suspected MD probands were enrolled in the study.

Effect of annealing treatment on electroluminescence from GaN/Si nanoheterostructure array.

A GaN/Si nanoheterostructure array was prepared by growing GaN nanostructures on silicon nanoporous pillar array (Si-NPA). Based on as-grown and annealed GaN/Si-NPA, two light-emitting diodes (LEDs) were fabricated. It was found that after the annealing treatment, both the turn-on voltage and the leakage current density of the nanoheterostructure varied greatly, together with the electroluminescence (EL) changed from a yellow band to a near infrared band.