𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome

✍ Scribed by Yoshisumi Haruna; Atsushi Kobori; Takeru Makiyama; Hidetada Yoshida; Masaharu Akao; Takahiro Doi; Keiko Tsuji; Seiko Ono; Yukiko Nishio; Wataru Shimizu; Takehiko Inoue; Tomoaki Murakami; Naoya Tsuboi; Hideo Yamanouchi; Hiroya Ushinohama; Yoshihide Nakamura; Masao Yoshinaga; Hitoshi Horigome; Yoshifusa Aizawa; Toru Kita; Minoru Horie

Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
455 KB
Volume
28
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

Andersen-Tawil syndrome (ATS) is a rare inherited disorder characterized by periodic paralysis, mild dysmorphic features, and QT or QU prolongation with ventricular arrhythmias in electrocardiograms (ECGs). Mutations of KCNJ2, encoding the human inward rectifying potassium channel Kir 2.1, have been identified in patients with ATS. We aimed to clarify the genotype-phenotype correlations in ATS patients. We screened 23

📜 SIMILAR VOLUMES

Molecular analysis of Japanese patients
Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation
✍ Yasukazu Yamada; Kiyokuni Miura; Toshiyuki Kumagai; Chiemi Hayakawa; Shuji Miyaz 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 90 KB

Rett syndrome is an X-linked dominant neurodevelopmental disorder that affects females almost exclusively. The recent identification of mutations of the methyl-CpG-binding protein 2 gene (MECP2) in patients with RTT, encouraged us to analyze the gene in 37 Japanese patients divided into classical RT

Mutational and genotype–phenotype correl
Mutational and genotype–phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome
✍ Jiong Yan; Gulam Mustafa Saifi; Tomasz H. Wierzba; Marjorie Withers; Gabriel A. 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 406 KB 👁 2 views

## Abstract Cornelia de Lange syndrome (CdLS) is a multisystem congenital anomaly disorder characterized by prenatal and postnatal growth retardation, developmental delay, distinctive facial dysmorphism, limb malformations, and multiple organ defects. Mutations in the __NIPBL__ gene have been disco

Mutations of FBN1 and genotype–phenotype
Mutations of FBN1 and genotype–phenotype correlations in Marfan syndrome and related fibrillinopathies
✍ Peter N. Robinson; Patrick Booms; Stefanie Katzke; Markus Ladewig; Luitgard Neum 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 174 KB

The Marfan syndrome (MFS) is a pleiotropic, autosomal dominant disorder of connective tissue with highly variable clinical manifestations including aortic dilatation and dissection, ectopia lentis, and a series of skeletal anomalies. Mutations in the gene for fibrillin-1 (FBN1) cause MFS, and at lea

Mutational analysis of ATP7B and genotyp
Mutational analysis of ATP7B and genotype–phenotype correlation in Japanese with Wilson's disease
✍ Toshihide Okada; Yuta Shiono; Hisao Hayashi; Hiro Satoh; Takeshi Sawada; Ayako S 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 286 KB 👁 2 views

The gene ATP7B responsible for Wilson's disease (WD) produces a protein which is predicted to be a copper-binding P-type ATPase, homologous to the Menkes disease gene (ATP7A). Various mutations of ATP7B have been identified. This study aimed to detect disease-causing mutations, to clarify their freq

Phenotype–genotype correlations in skele
Phenotype–genotype correlations in skeletal muscle of patients with mtDNA deletions
✍ Dr. C. T. Moraes; Dr. M. Sciacco; Dr. E. Ricci; Dr. C. H. Tengan; Dr. H. Hao; Dr 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 409 KB

Large-scale deletions of mitochondrial DNA (mtDNA) have been associated with a subgroup of mitochondrial encephalomyopathies, usually characterized by progressive external ophthalmoplegia (PEO) and mitochondrial proliferation in muscle fibers. We and others have shown that muscle from patients with