Relationship Between Polymorphism of Thrombin-Activatable Fibrinolysis Inhibitor Gene +1040C/T and a Cohort of Chinese Women With Recurrent Spontaneous Abortion.

The balance between coagulation and fibrinolysis is essential for a successful pregnancy. This study aimed to explore the genetic variant of +1040C/T in the coding region of thrombin-activatable fibrinolysis inhibitor (TAFI) gene in women with recurrent spontaneous abortion (RSA) and in unrelated healthy controls and to investigate the possible association between TAFI +1040C/T polymorphism and RSA. Peripheral blood samples were collected from 137 Chinese patients with RSA and 103 unrelated healthy Chinese controls.

c.4621C>T variant causing Gardner's syndrome in a Han Chinese family may be inherited through maternal mosaicism.

Gardner's syndrome is a rare autosomal dominant hereditary disease that is characterized by multiple colorectal polyps combined with extra-colonic presentation (such as osteoma or desmoid tumors) of familial adenomatous polyposis syndrome. Gardner's syndrome is caused by the mutation of the adenomatous polyposis coli () gene, which is located at 5q21. The aim of the current study was to investigate the gene mutations present in a Han Chinese family diagnosed with Gardner's syndrome.

VPS4B deficiency causes early embryonic lethality and induces signal transduction disorders of cell endocytosis.

VPS4B (vacuolar protein sorting 4B), a member of the ATPase associated with diverse cellular activities (AAA) protein family, is a component of the endosomal sorting complexes required for transport machinery which regulates the internalization and lysosomal degradation of membrane proteins. We previously reported that VPS4B is one of the pathogenic genes related to dentin dysplasia type I, although its function was largely unknown. To investigate the role of VPS4B in tooth development, we deleted the Vps4b gene in mice.

Unusual survival of a twin with homozygous α-thalassemia due to Chimerism.

Not available.

Evaluation of plasma D-dimer for the diagnosis in Chinese patients with hepatocellular carcinoma: A meta-analysis.

Background: To evaluate the value of plasma D-dimer levels for the diagnosis of hepatocellular carcinoma (HCC).

Methods: The following databases were searched for relevant studies published from 1990 to 2018: Wanfang Data, SinoMed, VIP Chinese Science and Technology Periodicals Database, China National Knowledge Infrastructure, Superstar Journals Database, Cochrane library, and PubMed. The studies were selected according to the diagnosis of HCC by plasma D-dimer levels.

Chemical Constituents of Stems and Leaves of L. and Its Fingerprint.

L. is a widely cultivated herbal medicinal plant in China and other countries. In this study, two new 2, 3-dihydrobenzofuran glucosides (, ) and fourteen known metabolites (-) were isolated from the stems and leaves of (SLT).

A tetranucleotide deletion in the ANK1 gene causes hereditary spherocytosis; a case of misdiagnosis.

Hereditary spherocytosis is a congenital red blood cell disorder. Typical clinical manifestations include anemia, jaundice and splenomegaly, which overlap with the thalassemia phenotype. Therefore, in high prevalence thalassemia regions, hereditary spherocytosis cases are often misdiagnosed.

Mechanism Investigation of L. against Chronic Nonbacterial Prostatitis by Metabolomics and Network Pharmacology.

The major objective of this study was to investigate the anti-chronic nonbacterial prostatitis (CNP) mechanism of by metabolomics and network pharmacology. The study demonstrated that the flavonoids and polysaccharides of could alleviate prostatitis by improving the level of DHT, reducing the secretion of PSA and TNF-α. Besides, both could enhance Na/K-ATPase activity, decrease the O consumption, CO production, heat production, energy expenditure of rats and promote respiratory exchange ratio of rats.

Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease.

Charcot-Marie-Tooth disease is a hereditary motor and sensory neuropathy exhibiting great clinical and genetic heterogeneity. Here, the identification of two heterozygous missense mutations in the C1orf194 gene at 1p21.2-p13.

Thalassaemia intermedia caused by coinheritance of a β-thalassaemia mutation and a de novo duplication of α-globin genes in the paternal allele.

Next generation sequencing identified a de novo, 204 kb, tandem duplication (αααα ) in the α-globin gene cluster of a Chinese thalassaemia intermedia patient. Haplotype analysis showed that the duplicated chromosome was of paternal origin. Molecular analysis of genomic DNA from the patient's lymphocytes, hair follicles, buccal mucosa cells, his father's lymphocytes and sperm cells excluded the possibility of somatic or germinal mosaicism.

A novel 223 kb deletion in the beta-globin gene cluster was identified in a Chinese thalassemia major patient.

Introduction: Although mutations in the human beta-globin gene cluster are essentially point mutations, several large deletions have been described in recent years.

Methods: We have identified a novel 223 kb deletion in a Chinese patient by multiplex ligation-dependent probe amplification and characterized it by next-generation sequencing, Gap-PCR, and DNA sequence analysis.

Results: The deletion extends from the 3'UTR of the δ globin gene (HBD) to 215 kb downstream of the HBB.

Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders.

Tooth development is a complex process that involves precise and time-dependent orchestration of multiple genetic, molecular, and cellular interactions. Ameloblastin (AMBN, also named "amelin" or "sheathlin") is the second most abundant enamel matrix protein known to have a key role in amelogenesis. Amelogenesis imperfecta (AI [MIM: 104500]) refers to a genetically and phenotypically heterogeneous group of conditions characterized by inherited developmental enamel defects.

A case report of heterozygous TINF2 gene mutation associated with pulmonary fibrosis in a patient with dyskeratosis congenita.

Rationale: Dyskeratosis congenita (DC) is a rare inherited disease characterized by the classical mucocutaneous triad. Pulmonary fibrosis, bone marrow failure, and solid tumors are the main causes of mortality in DC. Pathogenic variants in TERT, TERC, and DKC1 have been identified in individuals with familial pulmonary fibrosis.

Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.

Hemoglobinopathies are among the most common autosomal-recessive disorders worldwide. A comprehensive next-generation sequencing (NGS) test would greatly facilitate screening and diagnosis of these disorders. An NGS panel targeting the coding regions of hemoglobin genes and four modifier genes was designed.

Two novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families.

Copy number variations (CNVs) can cause many genetic disorders and the structure analysis of unknown CNVs is important for clinical diagnosis. The human α-globin gene cluster lies close to the telomere of the short arm on chromosome 16. Copy number variations of this region produce excessive or insufficient α-globin chains which imbalances the β-globin chains, resulting in thalassemia.

Anti-lymphoproliferative activity of alpha-2-macroglobulin in the plasma of hibernating 13-lined ground squirrels and woodchucks.

Plasma from hibernating (HIB) woodchucks (Marmota monax) or 13-lined ground squirrels (Ictidomys tridecemlineatus) suppressed (3)H-thymidine uptake in mouse spleen cell cultures stimulated with Concanavalin A (ConA); plasma from non-hibernating animals were only slightly inhibitory. Maximum inhibition occurred when HIB plasma was added to the cultures prior to ConA. After HPLC size exclusion chromatography of the HIB ground squirrel plasma, a single fraction (fraction-14) demonstrated inhibitory activity.

Cloning and characterization of a forkhead transcription factor gene, FoxO1a, from thirteen-lined ground squirrel.

This research analyzes the regulation of ischemic tolerance in hibernating thirteen-lined ground squirrels (Spermophilus tridecemlineatus). Hibernation is studied because it represents a unique state of reversible suspended animation associated with tolerance to an otherwise lethal reduction of core body temperature and metabolism. An integral aspect of hibernation is the profound decrease of cerebral perfusion without neurological damage.

Akt phosphorylation and kinase activity are down-regulated during hibernation in the 13-lined ground squirrel.

Hibernation in mammals is a reversible state of suspended animation associated with tolerance to an otherwise lethal reduction of core body temperature and metabolism. An integral aspect of hibernation is tolerance to a profound decrease of cerebral perfusion. Identification of regulatory mechanisms that control hibernation in ground squirrels can guide efforts to develop improved treatment for stroke and brain trauma.

Elevated arylalkylamine-N-acetyltransferase (AA-NAT) gene expression in medial habenular and suprachiasmatic nuclei of hibernating ground squirrels.

Hibernation, an adaptive response for energy conservation in mammals, involves a variety of physiological changes. Melatonin is linked with the regulation of core body temperature and intervenes in generating circadian cycles; its role in seasonal (circannual) rhythms of hibernation is explored here. Melatonin is primarily produced in the pineal gland.