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DNAH11 variants and its association with congenital heart disease and heterotaxy syndrome

Scientific reports, 2019-04, Vol.9 (1), p.6683, Article 6683

2019

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A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes

Orphanet journal of rare diseases, 2020-11, Vol.15 (1), p.335-12, Article 335

2020

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Establishing a new human hypertrophic cardiomyopathy-specific model using human embryonic stem cells

Experimental cell research, 2020-02, Vol.387 (1), p.111736, Article 111736

2020

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Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss‐of‐function variants

Molecular genetics & genomic medicine, 2022-11, Vol.10 (11), p.e2067-n/a

2022

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Isogenic human pluripotent stem cell disease models reveal ABRA deficiency underlies cTnT mutation-induced familial dilated cardiomyopathy

Protein & cell, 2022-01, Vol.13 (1), p.65-71

2022

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Engineering human ventricular heart muscles based on a highly efficient system for purification of human pluripotent stem cell-derived ventricular cardiomyocytes

Stem cell research & therapy, 2017-09, Vol.8 (1), p.202-202, Article 202

2017

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Cardiac Overexpression of XIN Prevents Dilated Cardiomyopathy Caused by TNNT2 ΔK210 Mutation

Frontiers in cell and developmental biology, 2021-06, Vol.9, p.691749-691749

2021

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Overexpression of steroidogenic acute regulatory protein in rat aortic endothelial cells attenuates palmitic acid-induced inflammation and reduction in nitric oxide bioavailability

Cardiovascular diabetology, 2012-11, Vol.11 (1), p.144-144, Article 144

2012

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Genome-wide epigenetic signatures facilitated the variant classification of the PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders

Genetics in medicine, 2024-08, Vol.26 (8), p.101167, Article 101167

2024

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A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations

European journal of human genetics : EJHG, 2023-01, Vol.31 (1), p.112-121

2023

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Functional analysis of rare variants of GATA4 identified in Chinese patients with congenital heart defect

Genesis (New York, N.Y. : 2000), 2019-11, Vol.57 (11-12), p.e23333-n/a

2019

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Compound heterozygous mutations of NTNG2 cause intellectual disability via inhibition of the CaMKII signaling

Journal of genetics and genomics, 2024-08

2024

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Steroidogenic acute regulatory protein (StAR) overexpression attenuates HFD-induced hepatic steatosis and insulin resistance

Biochimica et biophysica acta. Molecular basis of disease, 2017-04, Vol.1863 (4), p.978-990

2017

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Rapid detection of twenty-nine common Chinese glucose-6-phosphate dehydrogenase variants using a matrix-assisted laser desorption/ionization-time of flight mass spectrometry assay on dried blood spots

Clinical biochemistry, 2021-08, Vol.94, p.27-34

2021

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CCNK Gene Deficiency Influences Neural Progenitor Cells Via Wnt5a Signaling in CCNK‐Related Syndrome

Annals of neurology, 2023-12, Vol.94 (6), p.1136-1154

2023

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A novel de novo PDE4D gene mutation identified in a Chinese patient with acrodysostosis

Genesis (New York, N.Y. : 2000), 2019-11, Vol.57 (11-12), p.e23336-n/a

2019

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Establishment of a PRKAG2 cardiac syndrome disease model and mechanism study using human induced pluripotent stem cells

Journal of molecular and cellular cardiology, 2018-04, Vol.117, p.49-61

2018

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HPDL deficiency causes a neuromuscular disease by impairing the mitochondrial respiration

Journal of genetics and genomics, 2021-08, Vol.48 (8), p.727-736

2021

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Applications of human-induced pluripotent stem cells in the investigation of inherited cardiomyopathy

International journal of cardiology, 2014-12, Vol.177 (2), p.604-606

2014

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Progress on improving strength-toughness of ultra-high strength martensitic steels for aerospace applications: a review

Journal of materials research and technology, 2023-03, Vol.23, p.172-190

2023

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Effect of Zr Treatment on Inclusion and Solidification Microstructure in Ti Deoxidized Low Carbon Microalloyed Steel

JOM (1989), 2023-08, Vol.75 (8), p.2841-2852

2023

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A label-free electrochemical immunosensor based on AuNPs/Zn/Ni-ZIF-8-800@graphene for the detection of wheat gliadin

Journal of applied electrochemistry, 2024-03, Vol.54 (3), p.669-685

2024

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Inclusion evolution in solid steel during rolling deformation: a review

Journal of materials research and technology, 2022-05, Vol.18, p.5103-5115

2022

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Formation of Non-Metallic Inclusion and Acicular Ferrite in Ti–Zr Deoxidized Steel

ISIJ International, 2019/09/15, Vol.59(9), pp.1545-1551

2019

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Effect of CaO-MgO-FeO-SiO2-xNa2O Slag System on Converter Dephosphorization

Metals (Basel ), 2023-05, Vol.13 (5), p.844

2023

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DNAH11 variants and its association with congenital heart disease and heterotaxy syndrome

A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes

Establishing a new human hypertrophic cardiomyopathy-specific model using human embryonic stem cells

Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss‐of‐function variants

Isogenic human pluripotent stem cell disease models reveal ABRA deficiency underlies cTnT mutation-induced familial dilated cardiomyopathy

Engineering human ventricular heart muscles based on a highly efficient system for purification of human pluripotent stem cell-derived ventricular cardiomyocytes

Cardiac Overexpression of XIN Prevents Dilated Cardiomyopathy Caused by TNNT2 ΔK210 Mutation

Overexpression of steroidogenic acute regulatory protein in rat aortic endothelial cells attenuates palmitic acid-induced inflammation and reduction in nitric oxide bioavailability

Genome-wide epigenetic signatures facilitated the variant classification of the PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders

A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations

Functional analysis of rare variants of GATA4 identified in Chinese patients with congenital heart defect

Compound heterozygous mutations of NTNG2 cause intellectual disability via inhibition of the CaMKII signaling

Steroidogenic acute regulatory protein (StAR) overexpression attenuates HFD-induced hepatic steatosis and insulin resistance

Rapid detection of twenty-nine common Chinese glucose-6-phosphate dehydrogenase variants using a matrix-assisted laser desorption/ionization-time of flight mass spectrometry assay on dried blood spots

CCNK Gene Deficiency Influences Neural Progenitor Cells Via Wnt5a Signaling in CCNK‐Related Syndrome

A novel de novo PDE4D gene mutation identified in a Chinese patient with acrodysostosis

Establishment of a PRKAG2 cardiac syndrome disease model and mechanism study using human induced pluripotent stem cells

HPDL deficiency causes a neuromuscular disease by impairing the mitochondrial respiration

Applications of human-induced pluripotent stem cells in the investigation of inherited cardiomyopathy

Progress on improving strength-toughness of ultra-high strength martensitic steels for aerospace applications: a review

Effect of Zr Treatment on Inclusion and Solidification Microstructure in Ti Deoxidized Low Carbon Microalloyed Steel

A label-free electrochemical immunosensor based on AuNPs/Zn/Ni-ZIF-8-800@graphene for the detection of wheat gliadin

Inclusion evolution in solid steel during rolling deformation: a review

Formation of Non-Metallic Inclusion and Acicular Ferrite in Ti–Zr Deoxidized Steel

Effect of CaO-MgO-FeO-SiO2-xNa2O Slag System on Converter Dephosphorization

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