Search Results - "Zeng, Baitao"
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Full-Length Dystrophin Restoration via Targeted Exon Addition in DMD-Patient Specific iPSCs and Cardiomyocytes
Published in International journal of molecular sciences (16-08-2022)“…Duchenne muscular dystrophy (DMD) is the most common fatal muscle disease, with an estimated incidence of 1/3500–1/5000 male births, and it is associated with…”
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Seamless Genetic Conversion of SMN2 to SMN1 via CRISPR/Cpf1 and Single-Stranded Oligodeoxynucleotides in Spinal Muscular Atrophy Patient-Specific Induced Pluripotent Stem Cells
Published in Human gene therapy (01-11-2018)“…Spinal muscular atrophy (SMA) is a kind of neuromuscular disease characterized by progressive motor neuron loss in the spinal cord. It is caused by mutations…”
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3
Identification of two novel and one rare mutation in DYRK1A and prenatal diagnoses in three Chinese families with intellectual Disability-7
Published in Frontiers in genetics (20-12-2023)“…Intellectual disability-7 (MRD7) is a subtype disorder of intellectual disability (MRD) involving feeding difficulties, hypoactivity, and febrile seizures at…”
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Prenatal chromosomal microarray analysis in a large Chinese cohort of fetuses with congenital heart defects: a single center study
Published in Orphanet journal of rare diseases (22-08-2024)“…Congenital heart defect (CHD) is one of the most common birth defects. The aim of this cohort study was to evaluate the prevalence of chromosomal abnormalities…”
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Damaged DNA Is an Early Event of Neurodegeneration in Induced Pluripotent Stem Cell-Derived Motoneurons with UBQLN2P497H Mutation
Published in International journal of molecular sciences (26-09-2022)“…Ubiquilin-2 (UBQLN2) mutations lead to familial amyotrophic lateral sclerosis (FALS)/and frontotemporal dementia (FTLD) through unknown mechanisms. The…”
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Identification of five novel SCN1A variants
Published in Frontiers in behavioral neuroscience (08-11-2023)“…Background Epilepsy is characterized by recurrent unprovoked seizures. Mutations in the voltage-gated sodium channel alpha subunit 1 ( SCN1A ) gene are the…”
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Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province
Published in Frontiers in genetics (09-02-2023)“…Phenylalanine hydroxylase deficiency (PAHD) is an autosomal recessive disorder of amino acid metabolism and caused by mutations in the phenylalanine…”
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Mutation spectrum of PTS gene in patients with tetrahydrobiopterin deficiency from jiangxi province
Published in Frontiers in genetics (13-12-2022)“…Hyperphenylalaninemia (HPA) is the most common inborn error in amino acid metabolism. It can be primarily classified into phenylalanine hydroxylase (PAH)…”
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9
Mesenchymal stem cells derived from iPSCs expressing interleukin-24 inhibit the growth of melanoma in the tumor-bearing mouse model
Published in Cancer cell international (30-01-2020)“…Interleukin-24 ( - ) is a therapeutic gene for melanoma, which can induce melanoma cell apoptosis. Mesenchymal stem cells (MSCs) show promise as a carrier to…”
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10
An Episomal CRISPR/Cas12a System for Mediating Efficient Gene Editing
Published in Life (Basel, Switzerland) (18-11-2021)“…(1) Background: Gene editing technology, as represented by CRISPR is a powerful tool used in biomedical science. However, the editing efficiency of such…”
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Reevaluating the splice-altering variant in TECTA as a cause of nonsyndromic hearing loss DFNA8/12 by functional analysis of RNA
Published in Human molecular genetics (27-04-2024)“…The aim of this study was to determine the genetic cause of early onset autosomal dominant hearing loss segregating in five-generation kindred of Chinese…”
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Targeted addition of mini-dystrophin into rDNA locus of Duchenne muscular dystrophy patient-derived iPSCs
Published in Biochemical and biophysical research communications (19-03-2021)“…Duchenne muscular dystrophy (DMD), the most common lethal muscular disorder, affects 1 in 5000 male births. It is caused by mutations in the X-linked…”
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13
A General-Purpose Device for Interaction with LLMs
Published 02-08-2024“…This paper investigates integrating large language models (LLMs) with advanced hardware, focusing on developing a general-purpose device designed for enhanced…”
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