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Article
Open AccessNext-Generation Sequencing-Based Copy Number Variation Analysis in Chinese Patients with Primary Ciliary Dyskinesia Revealed Novel DNAH5 Copy Number Variations
Primary ciliary dyskinesia (PCD) is a rare disorder characterized by extensive genetic heterogeneity. However, in the genetic pathogenesis of PCD, copy number variation (CNV) has not received sufficient attent...
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Article
Optical synthesis of soliton molecules using composite filtering effects in a fiber laser
The manipulation of coherent multipulse generations is a promising ultrafast pulse technique. In this study, we experimentally obtain for the first time the synthesis of various soliton molecules (SMs) with di...
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Article
Open AccessCopy number variant analysis for syndromic congenital heart disease in the Chinese population
Syndromic congenital heart disease (CHD) is among the most severe conditions in the pediatric population. Copy number variant (CNV) is an important cause of syndromic CHD, but few studies focused on CNVs relat...
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Article
Open AccessBiallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes
Abnormalities in cilia ultrastructure and function lead to a range of human phenotypes termed ciliopathies. Many tetratricopeptide repeat domain (TTC) family members have been reported to play critical roles i...
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Article
Biallelic DNAH9 mutations are identified in Chinese patients with defective left–right patterning and cilia-related complex congenital heart disease
Defective left–right (LR) pattering results in a spectrum of laterality disorders including situs inversus totalis (SIT) and heterotaxy syndrome (Htx). Approximately, 50% of patients with primary ciliary dyski...
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Article
Open AccessHigh Familial Recurrence of Congenital Heart Defects in Laterality Defects Patients: An Evaluation of 184 Families
As a rare disease with genetic pathogenesis, observational study about familial CHD recurrence risk on CHD patients with laterality defects is lacking. This study aimed to investigate familial recurrence among...
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Article
Long non-coding RNA SAP30-2:1 is downregulated in congenital heart disease and regulates cell proliferation by targeting HAND2
Congenital heart disease (CHD) is the most common birth defect worldwide. Long non-coding RNAs (lncRNAs) have been implicated in many diseases. However, their involvement in CHD is not well understood. This st...
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Article
Open AccessBiallelic loss of function NEK3 mutations deacetylate α-tubulin and downregulate NUP205 that predispose individuals to cilia-related abnormal cardiac left–right patterning
Defective left–right (LR) organization involving abnormalities in cilia ultrastructure causes laterality disorders including situs inversus (SI) and heterotaxy (Htx) with the prevalence approximately 1/10,000 ...
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Article
Open AccessDNAH11 variants and its association with congenital heart disease and heterotaxy syndrome
Congenital heart diseases (CHDs) are the most common types of birth defects, affecting approximately 1% of live births and remaining the leading cause of mortality. CHD patients often show a higher incidence o...
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Article
Open AccessA novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease
Heterotaxy syndrome (HTX) is characterized by left-right (LR) asymmetry disturbances associated with severe heart malformations. However, the exact genetic cause of HTX pathogenesis remains unclear. The aim of...
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Design and Performance of a Linear Piezoelectric Wedgeworm Actuator
A new concept in linear piezoelectric actuators is developed for applications in adaptive, conformable structures for flow control. Motivated by a desire for high actuation force (>lkN) and simplified drive si...
