Asset Details

MbrlCatalogueTitleDetail

Do you wish to reserve the book?

A missense mutation (GGC435Gly-->AGCSer) in exon 8 of the CYP11B2 gene inherited in Japanese patients with congenital hypoaldosteronism

by Chida, Shoichi , Furuno, Takashi , Doi, Yoshinori , Santa, Romero Jovel , Takahashi, Akio , Nakamura, Toshiro , Shizuta, Yutaka , Yamasaki, Naohito , Endo, Fumio , Kuge, Hideaki , Kuribayashi, Isao , Mutlaq, Aldahoodi Ziyad , Onishi, Saburo

in Amino Acid Substitution / Asian Continental Ancestry Group / Base Sequence / corticosterone methyl oxidase / CYP11B2 gene / Cytochrome P-450 CYP11B2 - deficiency / Cytochrome P-450 CYP11B2 - genetics / Cytochrome P-450 CYP11B2 - metabolism / Exons - genetics / Humans / Hypoaldosteronism - congenital / Hypoaldosteronism - enzymology / Hypoaldosteronism - genetics / Infant / Infant, Newborn / Male / Mutation, Missense - genetics / Pedigree / Polymorphism, Restriction Fragment Length / Sequence Analysis, DNA / steroid 18-hydroxylase/oxidase

2003

Yes Please

Hey, we have placed the reservation for you!

By the way, why not check out events that you can attend while you pick your title.

Oops! Something went wrong.

Looks like we were not able to place the reservation. Kindly try again later.

Are you sure you want to remove the book from the shelf?

A missense mutation (GGC435Gly-->AGCSer) in exon 8 of the CYP11B2 gene inherited in Japanese patients with congenital hypoaldosteronism

2003

Confirm

Do you wish to request the book?

A missense mutation (GGC435Gly-->AGCSer) in exon 8 of the CYP11B2 gene inherited in Japanese patients with congenital hypoaldosteronism

2003

Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy

How would you like to get it?

Submit

We have requested the book for you!

Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.

Oops! Something went wrong.

Looks like we were not able to place your request. Kindly try again later.

Journal Article

A missense mutation (GGC435Gly-->AGCSer) in exon 8 of the CYP11B2 gene inherited in Japanese patients with congenital hypoaldosteronism

Chida, Shoichi,

Furuno, Takashi,

Doi, Yoshinori,

Santa, Romero Jovel,

Takahashi, Akio,

Nakamura, Toshiro,

Shizuta, Yutaka,

Yamasaki, Naohito,

Endo, Fumio,

Kuge, Hideaki,

Kuribayashi, Isao,

Mutlaq, Aldahoodi Ziyad,

Onishi, Saburo

2003

Overview

To clarify the underlying molecular mechanism of corticosterone methyl oxidase type II (CMO II) deficiency, Japanese patients newly diagnosed with CMO II deficiency were investigated. We analyzed the patients' genomic DNA sequence on all 9 exons of the CYP11B2 gene. In addition, restriction fragment length polymorphism (RFLP) analysis and expression studies were performed. The analysis showed that the patients homozygously retained a missense mutation, Gumacr;GC[435Gly]-->Aumacr;GC[Ser], in the CYP11B2 gene. Expression studies indicated that the steroid 18-hydroxylase/oxidase activities of the mutant enzyme were substantially reduced. These results support the hypothesis that this mutation causes CMO II deficiency in the patients, and are in accordance with our theory that the partial loss of P-450(C18) activities causes CMO II deficiency.

Share this book

Add to My Shelf

Publisher

S. Karger AG

Subject

Amino Acid Substitution

/ Asian Continental Ancestry Group

/ Base Sequence

/ corticosterone methyl oxidase

/ CYP11B2 gene

/ Cytochrome P-450 CYP11B2 - deficiency

/ Cytochrome P-450 CYP11B2 - genetics