A5046241835- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- RNA Research and Splicing
- Cellular transport and secretion
- RNA modifications and cancer
- RNA regulation and disease
- Chromosomal and Genetic Variations
- Bone and Dental Protein Studies
- Advanced Photocatalysis Techniques
- Perovskite Materials and Applications
- Genetic factors in colorectal cancer
- Conducting polymers and applications
- Glycosylation and Glycoproteins Research
- Genomics and Chromatin Dynamics
- Acute Myeloid Leukemia Research
- Vascular Malformations and Hemangiomas
- Chalcogenide Semiconductor Thin Films
- BRCA gene mutations in cancer
- Per- and polyfluoroalkyl substances research
- Oral and Craniofacial Lesions
- Cancer Genomics and Diagnostics
- Skin and Cellular Biology Research
- Neurological diseases and metabolism
- Autism Spectrum Disorder Research
Lanzhou University
2023-2024
Baylor College of Medicine
2021-2024
Zhejiang Sci-Tech University
2023-2024
Dalian Institute of Chemical Physics
2023-2024
State Key Laboratory of Applied Organic Chemistry
2024
Dalian National Laboratory for Clean Energy
2023-2024
Chinese Academy of Sciences
2023-2024
National Research Centre
2024
The University of Texas MD Anderson Cancer Center
2017-2022
Southwest Jiaotong University
2015
Abstract Despite extensive research into the genetic underpinnings of neurodevelopmental disorders (NDD), many clinical cases remain unresolved. We studied a female proband with NDD, mildly dysmorphic facial features, and brain stem hypoplasia on neuroimaging. Comprehensive genomic analyses revealed terminal 5p loss 18q gain in while diploid copy number for chromosomes 5 18 both parents. Genomic investigations identified an unbalanced translocation t(5;18) additional material from chromosome...
Genetic heterogeneity, reduced penetrance, and variable expressivity, the latter including asymmetric body axis plane presentations, have all been described in families with congenital limb malformations (CLMs). Interfamilial intrafamilial heterogeneity highlight complexity of underlying genetic pathogenesis these developmental anomalies. Family-based genomics by exome sequencing (ES) rare variant analyses combined whole-genome array-based comparative genomic hybridization were implemented...
Abstract Biallelic loss‐of‐function (LoF) of SLC13A5 (solute carrier family 13, member 5) induced deficiency in sodium/citrate transporter (NaCT) causes autosomal recessive developmental epileptic encephalopathy 25 with hypoplastic amelogenesis imperfecta (DEE25; MIM #615905). Many pathogenic single nucleotide variants (SNVs) and small indels have been described; however, no cases copy number (CNVs) sufficiently investigated. We describe a consanguineous Iraqi harboring an 88.5 kb homozygous...
Abstract PPP1R21 encodes for a conserved protein that is involved in endosomal maturation. Biallelic pathogenic variants have been associated with syndromic neurodevelopmental disorder from studying 13 affected individuals. In this report, we present 11 additional individuals nine unrelated families and their clinical, radiological, molecular findings. We identified eight different , of which six were novel variants. Global developmental delay hypotonia are neurological features observed all...
Homozygous pathogenic variants in WDR45B were first identified six subjects from three unrelated families with global development delay, refractory seizures, spastic quadriplegia, and brain malformations. Since the initial report 2018, no further cases have been described. In this report, we present 12 additional individuals seven their clinical, radiological, molecular findings. Six different identified, five of which are novel. Microcephaly developmental delay observed all subjects,...
Abstract Protein phosphatase 1 regulatory subunit 3F (PPP1R3F) is a member of the glycogen targeting subunits (GTSs), which belong to large group protein (PP1), major eukaryotic serine/threonine that regulates diverse cellular processes. Here, we describe identification hemizygous variants in PPP1R3F associated with novel X-linked recessive neurodevelopmental disorder 13 unrelated individuals. This characterized by developmental delay, mild intellectual disability, neurobehavioral issues...
Abstract Acute myeloid leukemia (AML) is driven by numerous molecular events that contribute to disease progression. Herein, we identify hnRNP K overexpression as a recurrent abnormality in AML negatively correlates with patient survival. Overexpression of murine fetal liver cells results altered self-renewal and differentiation potential. Further, transplantation models reveal myeloproliferation vivo. Mechanistic studies expose direct functional relationship between RUNX1—a master...
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by aplasia of the female reproductive tract; can include renal anomalies, absence or dysgenesis, and skeletal anomalies. While functional models have elucidated several candidate genes, only WNT4 (MIM: 603490) variants been definitively associated with a subtype MRKH hyperandrogenism 158330). DNA from 148 clinically diagnosed probands across 144 unrelated families available family members North America, Europe, South America...
This study attempted to elucidate how apigenin (AGI) interferes with the PI3K/Akt pathway fulfill its anti-tumour activity by anchoring on ATP-binding pocket of PI3K and PDK1. The structural basis energetic property AGI ATP binding human PDK1 isoforms α, β, γ δ were investigated in detail homology modelling molecular docking. Free energy calculations dynamics simulations revealed that can cause less conformational entropy loss than upon possess same level stability ATP. Combining ADMET...
Abstract SMG8 (MIM *617315) is a regulatory subunit involved in nonsense‐mediated mRNA decay (NMD), cellular protective pathway that regulates transcription, transcript stability, and degrades transcripts containing premature stop codons. binds SMG9 SMG1 to form the SMG1C complex inhibit kinase activity of SMG1. Biallelic deleterious variants are known cause heart brain malformation syndrome (HBMS; MIM #616920), whereas biallelic were recently described novel neurodevelopmental disorder...
<title>Abstract</title> Despite extensive research into the genetic underpinnings of neurodevelopmental disorders (NDD), many clinical cases remain unresolved. We studied a female proband with NDD, mildly dysmorphic facial features, and brain stem hypoplasia on neuroimaging. Comprehensive genomic analyses revealed terminal 5p loss 18q gain in while diploid copy number for chromosomes 5 18 both parents. Genomic investigations identified an unbalanced translocation t(5;18) additional material...
Alu elements are primate-specific retrotransposons with approximately 1.1 million copies identified in the human genome. One of significant contributions to genomic instability from is mechanism Alu/Alu-mediated rearrangement (AAMR), which two flanking can mediate a structural variant (SV). AAMR often generates chimeric or recombinant Alu, recognized by sequencing breakpoint junction SV. The abundant genome-wide distribution indicates potential for AAMR-derived SV mutagenesis and...
ABSTRACT Autophagy is a fundamental and evolutionary conserved biological pathway with vital roles in intracellular quality control homeostasis. The process of autophagy involves the engulfment targets by autophagosomes their delivery to lysosome for digestion recycling. We have previously reported recessive variants EPG5 , encoding ectopic P-granules 5 protein crucial role autophagosome-lysosome fusion, as cause Vici syndrome (VS), severe multisystem neurodevelopmental disorder defined...