A5039324525- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Hemoglobinopathies and Related Disorders
- Cancer-related gene regulation
- Prenatal Screening and Diagnostics
- Hemophilia Treatment and Research
- RNA and protein synthesis mechanisms
- Cellular transport and secretion
- Neurogenetic and Muscular Disorders Research
- Genetic and Kidney Cyst Diseases
- Amino Acid Enzymes and Metabolism
- Blood Coagulation and Thrombosis Mechanisms
- Genomics and Chromatin Dynamics
- Renal and related cancers
- Metabolism and Genetic Disorders
- Epigenetics and DNA Methylation
- Iron Metabolism and Disorders
- Chronic Myeloid Leukemia Treatments
- Blood groups and transfusion
- RNA Research and Splicing
- Ubiquitin and proteasome pathways
- Protein Degradation and Inhibitors
- Chromatin Remodeling and Cancer
Guangxi Maternal and Child Health Hospital
2017-2025
Guangxi Center for Disease Prevention and Control
2025
Prevention Institute
2022
Hengyang Academy of Agricultural Sciences
2020
Guangxi Medical University
2020
First Affiliated Hospital of Anhui Medical University
2019
Anhui Medical University
2019
Mudanjiang Normal University
2019
Southern Medical University
2014-2016
Baxter (United States)
2004
ABSTRACT Objective This study aims to investigate the utility of chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in fetuses diagnosed with talipes equinovarus (TE), as well explore genetic factors contributing TE. Methods The reviewed a total 241 TE between January 2015 December 2023, categorizing them into two groups based on absence or presence additional ultrasound anomalies: 163 cases (67.6%) isolated group 78 (32.4%) syndromic group. Karyotyping CMA were performed...
ABSTRACT Background The 10q26 microdeletion syndrome (OMIM #609625) is a distinct genomic disorder characterized by spectrum of clinical features including craniofacial anomalies, developmental delay (DD)/intellectual disability (ID), hypotonia, cardiovascular, and urogenital malformations. Despite the identification critical regions within linked to syndrome's phenotype, specific genes responsible for associated facial characteristics, microcephaly, cognitive issues, growth deficiencies...
NEDD4L (neural precursor cell expressed developmentally down-regulated 4-like) protein is a member of ubiquitin ligases Nedd4 family. Although studies have shown that Nedd4L may act as tumor suppressor in various cancers, including gastric cancer (GC), its clinical significance and the diagnostic value GC not well defined. HIF-1α (hypoxia inducible factor family transcription factors) actively involved metabolism many tumors, although relationship between expression levels still need to be...
Oculocutaneous albinism (OCA) is a human autosomal-recessive hypopigmentation disorder with in the skin, hair, and eyes. OCA1 OCA2 are caused by mutations of TYR genes, respectively, which responsible for most oculocutaneous albinism. However, incidence patients Guangxi remains unclear. To evaluate molecular basis thirty-six Guangxi, China. Peripheral venous blood samples were collected from these unrelated patients. The genes all individuals analyzed direct DNA sequencing sequences compared...
TNRC6B deficiency syndrome, also known as global developmental delay with speech and behavioral abnormalities (MIM 619243), is a rare autosomal dominant genetic disease mainly characterized by facial dysmorphism, delay/intellectual disability (DD/ID), language delay, fine motor attention deficit hyperactivity disorder (ADHD), variable abnormalities. It caused heterozygous variant in the gene (NM_001162501.2, MIM 610740), which encodes trinucleotide repeat-containing adaptor 6B protein.
Increased Hb F levels can ameliorate the symptoms of β-thalassemia (β-thal). Due to genetic heterogenicity β-thal, relationship between variants in modifier genes and level has been studied different populations. The Chinese Zhuang second largest population China 6.78% prevalence β-thal. However, effects these single nucleotide polymorphism (SNP) on β-thal intermedia (β-TI) patients this have not reported. To explore association loci (β-globin gene cluster, HBS1L-MYB intergenic region...
Abstract Background Recently hyperphenylalaninemia (HPA) caused by variants in DNAJC12 was reported and this suggested a new strategy for diagnosis. But ‐associated HPA is rare Chinese population so far. Methods The clinical information blood samples from the patient his family members were collected analyzed. Whole‐exome sequencing (WES) used to identify causative gene. Results We newborn with HPA, having excluded causes common genes associated HPA. By using whole‐exome sequencing, novel...
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations is a rare neurological disorder that associated typical clinical imaging features. The caused by pathogenic variants in the MAST1 gene, which encodes microtubule-associated protein predominantly expressed postmitotic neurons developing nervous system.
BackgroundAutosomal recessive intellectual developmental disorder-3 is caused by homozygous or compound heterozygous mutations in the CC2D1A gene. The disorder characterized disability (ID) and autism spectrum (ASD). To date, 39 patients from 17 families with -related disorders have been reported worldwide, whom only six pathogenic likely loss-of-function variants three of uncertain significance (VUS) gene identified these patients.MethodsWe described a patient ID non-consanguineous Chinese...
Accurate long-distance ranging is crucial for diverse applications, including satellite formation flying, very-long-baseline interferometry, gravitational-wave observatory, geographical research, etc. The integration of the time-of-flight mesurement with phase interference in dual-comb method enables high-precision a rapid update rate and an extended ambiguity range. Pioneering experiments have demonstrated unprecedented precision ranging, achieving 5 nm @ 60 ms 1.1 m 200 0.5 s 25 m....
Prolyl endopeptidase-like (PREPL) deficiency (MIM 616224) is a very rare congenital disorder characterized by neonatal hypotonia and feeding difficulties, ptosis, neuromuscular symptoms, cognitive impairments, growth hormone deficiency, short stature, hypergonadotropic hypogonadism. This syndrome an autosomal recessive disease resulting from mutations in the PREPL gene. Previous reports have associated with only one nucleotide substitution, deletion of four nucleotides, eight small...
At present, the association between albumin, N-terminal pro-brain natriuretic peptide (NT-proBNP) and long-term prognosis in patients with chronic heart failure (CHF) is unclear. Therefore, purpose of this study to explore relationship NT-proBNP all-cause mortality CHF patients.Three hundred fifty two were recruited our study, divided into 2 groups according mean (37.16 g/L) albumin concentration [low group (albumin < 37.16 high (albumin≥37.16 g/L)]. Differences was compared by odds ratio...
Next generation sequencing identified a de novo, 204 kb, tandem duplication (αααα204 ) in the α-globin gene cluster of Chinese thalassaemia intermedia patient. Haplotype analysis showed that duplicated chromosome was paternal origin. Molecular genomic DNA from patient's lymphocytes, hair follicles, buccal mucosa cells, his father's lymphocytes and sperm cells excluded possibility somatic or germinal mosaicism. The also indicated this arose during spermatogenesis. microhomology breakpoint...
Cranioectodermal dysplasia (CED) or Sensenbrenner syndrome is a very rare autosomal‑recessive disease that characterized by craniofacial, skeletal and ectodermal abnormalities. The proteins encoded six CED‑associated genes are members of the intraflagelline transport (IFT) system, which serves an essential role in assembly, maintenance function primary cilia. current study identified compound novel heterozygous <em>IFT122</em> (NM_052985.3) variants male Chinese infant with CED. latter...
Abstract Background Congenital hydrocephalus‐3 with brain anomalies (HYC3, MIM 617967) is a rare form of congenital hydrocephalus characterized by severe and cerebellar abnormalities, the onset disease occurs in utero even resulting fetal death. A very limited spectrum WDR81 pathogenic variants had been reported three unrelated families HYC3. This study aims at presenting novel compound heterozygous frameshift Chinese fetus. Methods Whole‐exome sequencing (WES) was performed for fetus...
Abstract Background Nemaline myopathy 8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, contractures, fractures, respiratory failure and swallowing difficulties apparent at birth. Methods An affected dizygotic twin pair from non‐consanguineous Chinese family presented with asphyxia, lethargy no response to stimuli. The dysmorphic features included prominent nasal bridge, telecanthus, excessive hip abduction, limb edema, absent palmar sole...
Abstract Background A very limited spectrum of ASCC1 pathogenic variants had been reported in six (mostly consanguineous) families with spinal muscular atrophy congenital bone fractures 2 [OMIM #616867] since 2016. Methods proband from a non‐consanguineous Chinese family presented neonatal severe hypotonia, respiratory distress, muscle weakness, and atrophy, as well was performed by exome sequencing. Results compound heterozygosity nonsense (c.932C>G,p.Ser311Ter) an exon 5 deletion...