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Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation

Scientific reports, 2024-04, Vol.14 (1), p.7638-7638, Article 7638

2024

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A novel compound heterozygous variant linked to hematuria in a family with hereditary factor VII deficiency

The journal of gene medicine, 2022-02, Vol.24 (2), p.e3398-n/a

2022

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A novel splicing mutation DNAH5 c.13,338 + 5G > C is involved in the pathogenesis of primary ciliary dyskinesia in a family with primary familial brain calcification

BMC pulmonary medicine, 2024-07, Vol.24 (1), p.1-13, Article 343

2024

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Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto’s Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations

BioMed research international, 2021-05, Vol.2021, p.1-12

2021

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Potential regulatory role of the Nrf2/HMGB1/TLR4/NF-κB signaling pathway in lupus nephritis

Pediatric rheumatology online journal, 2023-10, Vol.21 (1), p.130-130, Article 130

2023

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Function of PHEX mutations p.Glu145 and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription

Cell death & disease, 2022-06, Vol.13 (6), p.518-518, Article 518

2022

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A thrombophilia family with protein S deficiency due to protein translation disorders caused by a Leu607Ser heterozygous mutation in PROS1

Thrombosis journal, 2021-09, Vol.19 (1), p.1-64, Article 64

2021

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Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family

Neurological sciences, 2022-04, Vol.43 (4), p.2555-2563

2022

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Screening and function discussion of a hereditary renal tubular acidosis family pathogenic gene

Cell death & disease, 2020-03, Vol.11 (3), p.159-159, Article 159

2020

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Predictive factors of postoperative infection-related complications in adult patients with cerebral cavernous malformations

Scientific reports, 2020-01, Vol.10 (1), p.863-863, Article 863

2020

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Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A

Cardiology research and practice, 2022-04, Vol.2022, p.9716045-11

2022

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Novel machine learning models to predict pneumonia events in supratentorial intracerebral hemorrhage populations: An analysis of the Risa-MIS-ICH study

Frontiers in neurology, 2022-08, Vol.13, p.955271-955271

2022

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Surgical outcome of motor deficits and neurological status in brainstem cavernous malformations based on preoperative diffusion tensor imaging: a prospective randomized clinical trial

Journal of neurosurgery, 2019-01, Vol.130 (1), p.1-301

2019

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Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing

Molecular medicine reports, 2018-11, Vol.18 (5), p.4271-4280

2018

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Clinical and Genetic Analysis of a Family With Sitosterolemia Caused by a Novel ATP-Binding Cassette Subfamily G Member 5 Compound Heterozygous Mutation

Frontiers in cardiovascular medicine, 2022-04, Vol.9, p.887618

2022

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Genetic Analysis and Functional Study of a Pedigree With Bruck Syndrome Caused by PLOD2 Variant

Frontiers in pediatrics, 2022-05, Vol.10, p.878172-878172

2022

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Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier

Digestive diseases and sciences, 2024-06, Vol.69 (6), p.2109-2122

2024

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High Plasma Fibrinogen Level Elevates the Risk of Cardiac Complications Following Spontaneous Intracerebral Hemorrhage

World neurosurgery, 2023-12, Vol.180, p.e774-e785

2023

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Han family with essential tremor caused by the P421L variant of the TENM4 gene in China

Neurological sciences, 2023-06, Vol.44 (6), p.2003-2015

2023

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Adult type I Gaucher disease with splenectomy caused by a compound heterozygous GBA1 mutation in a Chinese patient: a case report

Annals of hematology, 2024-05, Vol.103 (5), p.1765-1774

2024

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Naoxueshu Oral Liquid Accelerates Post-Craniotomy Hematoma Absorption in Patients: An Open-Label, Multicenter, and Randomized Controlled Trial

Chinese journal of integrative medicine, 2024-08, Vol.30 (8), p.675-683

2024

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In vitro study of ATP1A3 p.Ala275Pro mutant causing alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism

Frontiers in neuroscience, 2024-07, Vol.18

2024

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Serum-free media for articular chondrocytes in vitro expansion

Chinese medical journal, 2013-07, Vol.126 (13), p.2523-2529

2013

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Rat adipose-derived stromal cells expressing BMP4 induce ectopic bone formation in vitro and in vivo

Acta pharmacologica Sinica, 2006-12, Vol.27 (12), p.1608-1615

2006

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LncRNAs expression signatures of human brain arteriovenous malformation revealed by microarray

Medicine (Baltimore), 2018-07, Vol.97 (30), p.e11308-e11308

2018

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Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation

A novel compound heterozygous variant linked to hematuria in a family with hereditary factor VII deficiency

A novel splicing mutation DNAH5 c.13,338 + 5G > C is involved in the pathogenesis of primary ciliary dyskinesia in a family with primary familial brain calcification

Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto’s Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations

Potential regulatory role of the Nrf2/HMGB1/TLR4/NF-κB signaling pathway in lupus nephritis

Function of PHEX mutations p.Glu145 and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription

A thrombophilia family with protein S deficiency due to protein translation disorders caused by a Leu607Ser heterozygous mutation in PROS1

Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family

Screening and function discussion of a hereditary renal tubular acidosis family pathogenic gene

Predictive factors of postoperative infection-related complications in adult patients with cerebral cavernous malformations

Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A

Novel machine learning models to predict pneumonia events in supratentorial intracerebral hemorrhage populations: An analysis of the Risa-MIS-ICH study

Surgical outcome of motor deficits and neurological status in brainstem cavernous malformations based on preoperative diffusion tensor imaging: a prospective randomized clinical trial

Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing

Clinical and Genetic Analysis of a Family With Sitosterolemia Caused by a Novel ATP-Binding Cassette Subfamily G Member 5 Compound Heterozygous Mutation

Genetic Analysis and Functional Study of a Pedigree With Bruck Syndrome Caused by PLOD2 Variant

Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier

High Plasma Fibrinogen Level Elevates the Risk of Cardiac Complications Following Spontaneous Intracerebral Hemorrhage

Han family with essential tremor caused by the P421L variant of the TENM4 gene in China

Adult type I Gaucher disease with splenectomy caused by a compound heterozygous GBA1 mutation in a Chinese patient: a case report

Naoxueshu Oral Liquid Accelerates Post-Craniotomy Hematoma Absorption in Patients: An Open-Label, Multicenter, and Randomized Controlled Trial

In vitro study of ATP1A3 p.Ala275Pro mutant causing alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism

Serum-free media for articular chondrocytes in vitro expansion

Rat adipose-derived stromal cells expressing BMP4 induce ectopic bone formation in vitro and in vivo

LncRNAs expression signatures of human brain arteriovenous malformation revealed by microarray

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