Xiaojuan Xu

发表

Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population

Wei Li, K. Xia, Z. Xiong, 2012, Human Genetics.

Calcification of lower extremity arteries is related to the presence of osteoporosis in postmenopausal women with type 2 diabetes mellitus: a cross-sectional observational study

Manna Zhang, S. Qu, H. Sheng, 2021, Osteoporosis International.

Effect of diabetes mellitus on the dissection properties of the rabbit descending thoracic aortas.

Fan Yang, J. Tong, Xiaojuan Xu, 2019, Journal of biomechanics.

Defective calmodulin binding to the cardiac ryanodine receptor plays a key role in CPVT-associated channel dysfunction.

M. Yano, Shigeki Kobayashi, Takeshi Yamamoto, 2010, Biochemical and biophysical research communications.

A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family.

K. Xia, Z. Xiong, W. Su, 2012, Gene.

Ryanodine receptor-bound calmodulin is essential to protect against catecholaminergic polymorphic ventricular tachycardia.

M. Yano, Shigeki Kobayashi, Takeshi Yamamoto, 2019, JCI insight.

Dantrolene, a therapeutic agent for malignant hyperthermia, inhibits catecholaminergic polymorphic ventricular tachycardia in a RyR2(R2474S/+) knock-in mouse model.

M. Yano, Shigeki Kobayashi, Takeshi Yamamoto, 2010, Circulation journal : official journal of the Japanese Circulation Society.

Correction of impaired calmodulin binding to RyR2 as a novel therapy for lethal arrhythmia in the pressure-overloaded heart failure.

M. Yano, Shigeki Kobayashi, Takeshi Yamamoto, 2017, Heart rhythm.

Mutation-linked, excessively tight interaction between the calmodulin binding domain and the C-terminal domain of the cardiac ryanodine receptor as a novel cause of catecholaminergic polymorphic ventricular tachycardia.

M. Yano, Shigeki Kobayashi, Takeshi Yamamoto, 2018, Heart rhythm.

GLA variation p.E66Q identified as the genetic etiology of Fabry disease using exome sequencing.

K. Xia, Hui Guo, Zhengmao Hu, 2016, Gene.

Variations analysis of NLGN3 and NLGN4X gene in Chinese autism patients

Jingping Zhao, K. Xia, Z. Xiong, 2014, Molecular Biology Reports.

Not all neuroligin 3 and 4X missense variants lead to significant functional inactivation

K. Xia, Zhengmao Hu, Xuehong Zhang, 2017, Brain and behavior.

Chromosomal analysis for embryos from balanced chromosomal rearrangement carriers using next generation sequencing

Xiaoling Ma, Kun Liu, Xiaojuan Xu, 2021, Molecular reproduction and development.

The Effectiveness of Next-Generation Sequencing-Based Preimplantation Genetic Testing for Balanced Translocation Couples

Xiaoling Ma, Xuehong Zhang, Xiaojuan Xu, 2021, Cytogenetic and Genome Research.

AMPD1 functional variants associated with autism in Han Chinese population

Jingping Zhao, D. Tian, K. Xia, 2015, European Archives of Psychiatry and Clinical Neuroscience.

Mutation analysis of the NRXN1 gene in a Chinese autism cohort.

Wei Li, Jingping Zhao, Lina Lu, 2012, Journal of psychiatric research.

Enhancing calmodulin binding to ryanodine receptor is crucial to limit neuronal cell loss in Alzheimer disease

M. Yano, Shigeki Kobayashi, Takeshi Yamamoto, 2021, Scientific Reports.

Disruption of Contactin 4 in two subjects with autism in Chinese population.

Jingping Zhao, K. Xia, G. Xun, 2012, Gene.

Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population

Wei Li, K. Xia, Z. Xiong, 2012, Human Genetics.

The effect of chromosomal polymorphisms on the outcomes of fresh IVF/ICSI–ET cycles in a Chinese population

Xuehong Zhang, Xiaojuan Xu, Rui Zhang, 2016, Journal of Assisted Reproduction and Genetics.

Defective domain-domain interactions within the ryanodine receptor as a critical cause of diastolic Ca2+ leak in failing hearts.

M. Yano, T. Ohkusa, Shigeki Kobayashi, 2008, Cardiovascular research.

Identification of Target Domains of the Cardiac Ryanodine Receptor to Correct Channel Disorder in Failing Hearts

M. Yano, Shigeki Kobayashi, Takeshi Yamamoto, 2008, Circulation.

Association between Hemoglobin and Diabetic Peripheral Neuropathy at Different Glycosylated Hemoglobin Levels in Type 2 Diabetes Mellitus Patients

S. Qu, H. Sheng, R. Cui, 2020 .

Mutation-Linked Defective Interdomain Interactions Within Ryanodine Receptor Cause Aberrant Ca2+ Release Leading to Catecholaminergic Polymorphic Ventricular Tachycardia

M. Yano, Shigeki Kobayashi, Takeshi Yamamoto, 2011, Circulation.

Dantrolene, a therapeutic agent for malignant hyperthermia, markedly improves the function of failing cardiomyocytes by stabilizing interdomain interactions within the ryanodine receptor.

M. Yano, Shigeki Kobayashi, Takeshi Yamamoto, 2009, Journal of the American College of Cardiology.

Serum superoxide dismutase activity: a sensitive, convenient, and economical indicator associated with the prevalence of chronic type 2 diabetic complications, especially in men

S. Qu, H. Sheng, R. Cui, 2021, Free radical research.

Common and rare variants of the THBS1 gene associated with the risk for autism

Wei Li, Jingping Zhao, D. Tian, 2014, Psychiatric genetics.

Catecholaminergic Polymorphic Ventricular Tachycardia Is Caused by Mutation-Linked Defective Conformational Regulation of the Ryanodine Receptor

M. Yano, T. Ohkusa, Shigeki Kobayashi, 2010, Circulation research.

Dissociation of calmodulin from cardiac ryanodine receptor causes aberrant Ca(2+) release in heart failure.

M. Yano, Shigeki Kobayashi, Takeshi Yamamoto, 2010, Cardiovascular research.

A New Day 4 Grading System to Assess Embryo Quality in Frozen Embryo Transfer Cycles

Xiaojuan Xu, Hong-Xing Li, Lin Liu, 2020, Reproductive Sciences.

Associations between a new day 4 embryo grading system and implantation rates in frozen embryo transfer (FET) cycles

Xiaojuan Xu, Yiqing Wang, Lin Liu, 2020, Medicine.

Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports

K. Xia, Z. Xiong, Zhengmao Hu, 2013, Journal of Medical Case Reports.

A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease

K. Xia, Q. Pan, W. Su, 2010, Molecular Vision.

Identification of Target Domains of the Cardiac Ryanodine Receptor to Correct Channel Disorder in Failing Hearts

M. Yano, Shigeki Kobayashi, Takeshi Yamamoto, 2008, Circulation.