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Article
Open AccessAssociation between parental decisions regarding abortion and severity of fetal heart disease
The prenatal diagnosis of fetal heart disease potentially influences parental decision-making regarding pregnancy termination. Existing literature indicates that the severity, whether in complexity or lethalit...
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Article
Open AccessGenetic association analysis of 77,539 genomes reveals rare disease etiologies
The genetic etiologies of more than half of rare diseases remain unknown. Standardized genome sequencing and phenoty** of large patient cohorts provide an opportunity for discovering the unknown etiologies, ...
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Article
Nonsurgical treatment of cerebral ischemia associated with ACTA2 cerebral arteriopathy: a case report and literature review
Mutations in ACTA2 gene can lead to multisystemic smooth muscle dysfunction, including cerebrovascular disease. Treatment strategies for this rare entity remain controversial, and patients are at increasing risk ...
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Article
Open AccessMutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited vascular disorder characterized by recurrent epistaxis, skin/mucocutaneous telangiectasia, and organ/visceral arteriovenous malformations (...
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Chapter and Conference Paper
Relationship Between Mutations in ENG and ALK1 Genes and the Affected Organs in Hereditary Hemorrhagic Telangiectasia
Hereditary hemorrhagic telangiectasia (HHT) is a hereditary disorder that causes refractory nasal bleeding, arteriovenous malformations in the lung (pulmonary arteriovenous fistula: PAVF), central nervous syst...
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Article
Clinical outcomes of aortic repair in young adult patients with ACTA2 mutations
Actin, alpha-2, smooth muscle, aorta (ACTA2) mutations are one of the major causes of familial thoracic aortic aneurysms and dissections. The aim of this study was to review our clinical results of young adult...
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Article
Open AccessImpact of connective tissue disease on the surgical outcomes of aortic dissection in patients with cystic medial necrosis
A retrospective analysis was performed to determine the impact of genetically diagnosed connective tissue disease (CTD) on the early and late outcomes of surgical treatment for aortic dissection in patients ha...
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Chapter
Genetics of Marfan Syndrome, Related Disorders, and Bicuspid Aortic Valve
Recently, the genetic study of aortic diseases such as Marfan syndrome has been advanced, leading to not only identifying responsible genes but also providing better understanding of the pathophysiology and po...
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Article
Open AccessErratum to: AMPD1 regulates mTORC1-p70 S6 kinase axis in the control of insulin sensitivity in skeletal muscle
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Article
Open AccessAMPD1 regulates mTORC1-p70 S6 kinase axis in the control of insulin sensitivity in skeletal muscle
Insulin resistance triggered by excess fat is a key pathogenic factor that promotes type 2 diabetes. Understanding molecular mechanisms of insulin resistance may lead to the identification of a novel therapeut...
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Article
Open AccessAMPD1: a novel therapeutic target for reversing insulin resistance
Insulin resistance is one of the hallmark manifestations of obesity and Type II diabetes and reversal of this pathogenic abnormality is an attractive target for new therapies for Type II diabetes. A recent rep...
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Article
High prevalence of vertebral artery tortuosity of Loeys-Dietz syndrome in comparison with Marfan syndrome
Loeys-Dietz syndrome (LDS) is a connective tissue disease caused by mutations in the genes encoding the transforming growth factor-β receptor (TGFBR). LDS is associated with aneurysms or dissections of the aor...
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Chapter and Conference Paper
Validity of Using Ghent Criteria for Japanese Population Suspected of Marfan Syndrome
Background: Diagnosis of Marfan syndrome (MFS) has been made based on Ghent criteria. However, there exist differences in habitus between Japanese and Western populations. We examined the validity to use Ghent cr...
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Article
Leptin Gene and Leptin Receptor Gene Polymorphisms Are Associated with Sweet Preference and Obesity
Leptin is an adipocyte-secreted hormone that regulates food intake and body weight, and that was recently reported to suppress sweet sensitivity in an animal model. We investigated the associations among sweet...
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Article
Heterozygous TGFBR2 mutations in Marfan syndrome
Marfan syndrome is an extracellular matrix disorder with cardinal manifestations in the eye, skeleton and cardiovascular systems associated with defects in the gene encoding fibrillin (FBN1) at 15q21.1 (ref. 1). ...
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Article
Functional analysis of the p57 KIP2 gene mutation in Beckwith-Wiedemann syndrome
p57 KIP2 is a potent tight-binding inhibitor of several G1 cyclin/cyclin-dependent kinase (Cdk) complexes, and is a negative regulator of cell proliferation. The gene encoding ...
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Chapter
Molecular Analysis of Mouse ampd3 Gene Encoding Heart-Type Isoform of Amp Deaminase
Purine metabolism is one mechanism to maintain cellular ATP concentration. The pathway to degrade adenosine nucleotide directly involves in stabilization of the energy charge during ATP consumption. AMP deamin...
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Article
New p57KIP2 mutations in Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome (BWS) is characterized by numerous growth abnormalities and an increased risk of childhood tumors. The gene for BWS is localized in the 11p15.5 region, as determined by linkage ana...
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Article
An imprinted gene p57KIP2 is mutated in Beckwith–Wiedemann syndrome
p57KIP2 is a potent tight-binding inhibitor of several G1 cyclin/Cdk complexes, and is a negative regulator of cell proliferation1,2. The gene encoding p57KIP2 is located at 11p15.5 (ref. 2), a region implicated ...
