Search Results - "Nong, Tianying"
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Isolation and characterization of buffalo (bubalus bubalis) amniotic mesenchymal stem cells derived from amnion from the first trimester pregnancy
Published in Journal of Veterinary Medical Science (2018)“…Amniotic mesenchymal stem cells (AMSCs) from livestock are valuable resources for animal reproduction and veterinary therapeutic. The purpose of this study is…”
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The mucolipidosis III-causing mutation in GNPTAB, c.1760G>C, disrupts the development of somites in rats
Published in Genes & diseases (01-11-2024)Get full text
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Novel de novo TRPV4 mutation identified in a Chinese family with metatropic dysplasia inhibits chondrogenic differentiation
Published in Genes & diseases (01-05-2024)Get full text
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A novel mutation in ext2 caused hereditary multiple exostoses through reducing the synthesis of heparan sulfate
Published in Genetics and molecular biology (01-01-2021)“…Hereditary multiple exostoses (HME) is a rare skeletal disorder characterized by the formation of multiple benign cartilage-capped tumors, usually in the…”
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Identification of a novel TBX5 mutation in a Chinese family with rare symptoms of Holt–Oram syndrome
Published in Heliyon (01-11-2022)“…Holt–Oram syndrome (HOS) is a rare autosomal dominant disorder characterized by skeletal abnormalities of the upper limbs and often cardiac malformations. We…”
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A novel compound heterozygous variation in the FKBP10 gene causes Bruck syndrome without congenital contractures: A case report
Published in Heliyon (15-04-2024)“…Bruck syndrome (BS) is an extremely rare autosomal-recessive connective tissue disorder mainly characterized by bone fragility, congenital joint contracture,…”
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A TNNI2 variant c.525G>T causes distal arthrogryposis in a Chinese family
Published in Molecular genetics & genomic medicine (01-12-2022)“…Background Distal arthrogryposis (DA) is a group of congenital autosomal‐dominant disorders secondary to defects in joint and muscle function, characterized by…”
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Hypoxia enhances buffalo adipose‐derived mesenchymal stem cells proliferation, stemness, and reprogramming into induced pluripotent stem cells
Published in Journal of cellular physiology (01-10-2019)“…Adipose tissue‐derived mesenchymal stem cells (ASCs) from livestock are valuable resources for animal reproduction and veterinary therapeutics. Previous…”
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Novel denovo TRPV4 mutation identified in a Chinese family with metatropic dysplasia inhibits chondrogenic differentiation
Published in Genes & diseases (01-05-2024)Get full text
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Analysis of a case of Multiple pterygium syndrome due to a novel variant of CHRNG gene
Published in Zhonghua yi xue yi chuan xue za zhi (10-06-2023)“…To explore the clinical characteristics and genetic etiology of a child with multiple pterygium syndrome (MPS). A child with MPS who was treated at the…”
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A novel compound heterozygous variation in the FKBP10 gene causes Bruck syndrome without congenital contractures: A case report
Published in Heliyon (15-04-2024)“…BackgroundBruck syndrome (BS) is an extremely rare autosomal-recessive connective tissue disorder mainly characterized by bone fragility, congenital joint…”
Get full text
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Identification of a novel TBX5 mutation in a Chinese family with rare symptoms of Holt-Oram syndrome
Published in Heliyon (01-11-2022)Get full text
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