Pengfei Liu
A5100355001- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Cancer Genomics and Diagnostics
- Congenital heart defects research
- Chromosomal and Genetic Variations
- Genetic factors in colorectal cancer
- RNA regulation and disease
- Connective tissue disorders research
- Cellular transport and secretion
- Epigenetics and DNA Methylation
- Prenatal Screening and Diagnostics
- RNA Research and Splicing
- Neurogenetic and Muscular Disorders Research
- Cancer-related gene regulation
- RNA and protein synthesis mechanisms
- CRISPR and Genetic Engineering
- Genomics, phytochemicals, and oxidative stress
- Cancer-related molecular mechanisms research
- Hereditary Neurological Disorders
- Wnt/β-catenin signaling in development and cancer
- Metabolism and Genetic Disorders
- Genetic and Kidney Cyst Diseases
- Virus-based gene therapy research
Baylor College of Medicine
2016-2025
Second Affiliated Hospital of Xi'an Jiaotong University
2024-2025
Baylor Genetics
2016-2025
Shandong University of Traditional Chinese Medicine
2022-2025
Xi'an Technological University
2024-2025
Naval University of Engineering
2025
Institute of Catalysis and Petrochemistry
2025
Nanjing University
2023-2024
Nanjing General Hospital of Nanjing Military Command
2023-2024
Guizhou Academy of Agricultural Sciences
2023-2024
Clinical whole-exome sequencing is increasingly used for diagnostic evaluation of patients with suspected genetic disorders.To perform clinical and report (1) the rate molecular diagnosis among phenotypic groups, (2) spectrum alterations contributing to disease, (3) prevalence medically actionable incidental findings such as FBN1 mutations causing Marfan syndrome.Observational study 2000 consecutive analyzed between June 2012 August 2014. Whole-exome tests were performed at a genetics...
<h3>Importance</h3> While congenital malformations and genetic diseases are a leading cause of early infant death, to our knowledge, the contribution single-gene disorders in this group is undetermined. <h3>Objective</h3> To determine diagnostic yield use clinical exome sequencing critically ill infants. <h3>Design, Setting, Participants</h3> Clinical was performed for 278 unrelated infants within first 100 days life who were admitted Texas Children’s Hospital Houston, Texas, during 5-year...
Increased secretion of growth hormone leads to gigantism in children and acromegaly adults; the genetic causes are poorly understood.We performed clinical studies samples obtained from 43 patients with then sequenced an implicated gene 248 acromegaly.We observed microduplication on chromosome Xq26.3 13 gigantism; these samples, 4 were members two unrelated kindreds, 9 sporadic cases. All had disease onset during early childhood. Of who did not carry microduplication, none presented before...
Given the rarity of most single-gene Mendelian disorders, concerted efforts data exchange between clinical and scientific communities are critical to optimize molecular diagnosis novel disease gene discovery. We designed implemented protocols for study cases which a plausible was not achieved in genomics diagnostic laboratory (i.e. unsolved exomes). Such were recruited research further analyses, order potentially: (1) accelerate discovery; (2) increase yield whole exome sequencing (WES); (3)...
Most genes associated with neurodevelopmental disorders (NDDs) were identified an excess of de novo mutations (DNMs) but the significance in case-control mutation burden analysis is unestablished. Here, we sequence 63 16,294 NDD cases and additional 62 6,211 cases. By combining these published data, assess a total 125 over 16,000 compare to nonpsychiatric controls from ExAC. We identify 48 (25 newly reported) showing significant ultra-rare (MAF < 0.01%) gene-disruptive (FDR 5%), six which...
Abstract Oncolytic adenovirus (Ad) infection promotes intracellular autophagy in tumors. This could kill cancer cells and contribute to Ads-mediated anticancer immunity. However, the low intratumoral content of intravenously delivered Ads be insufficient efficiently activate tumor over-autophagy. Herein, we report bacterial outer membrane vesicles (OMVs)-encapsulating as microbial nanocomposites that are engineered for autophagy-cascade-augmented immunotherapy. Biomineral shells cover...
Reproductive system diseases pose prominent threats to human physical and mental well-being. Besides being influenced by genetic material regulation changes in lifestyle, the occurrence of these is closely connected exposure harmful substances environment. Endocrine disrupting chemicals (EDCs), characterized hormone-like effects, have a wide range influences on reproductive system. EDCs are ubiquitous natural environment present industrial everyday products. Currently, thousands been...
Exome sequencing is now being incorporated into clinical care for pediatric and adult populations, but its integration prenatal diagnosis has been more limited. One reason this the paucity of information about utility exome in setting.We retrospectively reviewed indications, results, time to results (turnaround time, TAT), impact 146 consecutive "fetal exomes" performed a diagnostic laboratory between March 2012 November 2017. We define fetal as one on sample obtained from fetus or product...
BACKGROUND. Transcriptome sequencing (RNA-seq) improves diagnostic rates in individuals with suspected Mendelian conditions to varying degrees, primarily by directing the prioritization of candidate DNA variants identified on exome or genome (ES/GS). Here we implemented an RNA-seq–guided method diagnose across a wide range ages and clinical phenotypes.
Activation of the stress-responsive transcription factor NRF2 is major line defense to combat oxidative or electrophilic insults. Under basal conditions, continuously ubiquitylated by KEAP1-CUL3-RBX1 E3 ubiquitin ligase complex and targeted proteasome for degradation (the canonical mechanism). However, path from CUL3 ultimate proteasomal was previously unknown. p97 a ubiquitin-targeted ATP-dependent segregase that extracts client proteins membranes, protein complexes, chromatin has an...
Diagnosing genetic disorders requires extensive manual curation and interpretation of candidate variants, a labor-intensive task even for trained geneticists. Although artificial intelligence (AI) shows promise in aiding these diagnoses, existing AI tools have only achieved moderate success primary diagnosis.
SUMMARY Sex chromosomes fall into three classes: XX/XY, ZW/ZZ and U/V systems. The rise, evolution demise of systems have remained enigmatic to date. Here, we analyze genomes spanning the entire brown algal phylogeny decipher their sex-determination evolutionary history. birth sex evolved more than 250 million years ago, when a pivotal male-determinant located in discrete region proto-U proto-V ceased recombining. Over time, nested inversions led step-wise expansions, accompanying increasing...
Clinical RNA-seq has become an essential tool for resolving variants of uncertain significance (VUS), particularly those affecting gene expression and splicing. However, most reference data diagnostic protocols employ relatively modest sequencing depths (∼50-150 million reads), which may fail to capture low-abundance transcripts rare splicing events critical accurate diagnoses. We evaluated the translational utility ultra-high-depth (up ∼one billion unique reads) in four clinically...
Somatic mosaicism has been implicated as a causative mechanism in number of genetic and genomic disorders. X-linked acrogigantism (XLAG) syndrome is recently characterized form pediatric gigantism due to aggressive pituitary tumors that caused by submicroscopic chromosome Xq26.3 duplications include GPR101 We studied XLAG patients (n= 18) determine if somatic contributed the pathophysiology. Eighteen subjects with were identified using high-definition array comparative hybridization...