Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis ; volume:10 ; number:1 ; day:2 ; month:3 ; year:2023 ; pages:1-6 ; date:12.2023
Human genome variation ; 10, Heft 1 (2.3.2023), 1-6, 12.2023

Creator: Nakahara, Erina
Yamamoto, Keiko Shimojima
Ogura, Hiromi
Aoki, Takako
Utsugisawa, Taiju
Azuma, Kenko
Akagawa, Hiroyuki
Watanabe, Kenichiro
Muraoka, Michiko
Nakamura, Fumihiko
Kamei, Michi
Tatebayashi, Koji
Shinozuka, Jun
Yamane, Takahisa
Hibino, Makoto
Katsura, Yoshiya
Nakano-Akamatsu, Sonoko
Kadowaki, Norimitsu
Maru, Yoshiro
Ito, Etsuro
Ohga, Shouichi
Yagasaki, Hiroshi
Morioka, Ichiro
Yamamoto, Toshiyuki
Kanno, Hitoshi

Contributor: SpringerLink (Online service)

DOI: 10.1038/s41439-023-00235-y

URN: urn:nbn:de:101:1-2023121413125583054856

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:26 AM CEST

Data provider

This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.

Show original at data provider

Associated

Nakahara, Erina
Yamamoto, Keiko Shimojima
Ogura, Hiromi
Aoki, Takako
Utsugisawa, Taiju
Azuma, Kenko
Akagawa, Hiroyuki
Watanabe, Kenichiro
Muraoka, Michiko
Nakamura, Fumihiko
Kamei, Michi
Tatebayashi, Koji
Shinozuka, Jun
Yamane, Takahisa
Hibino, Makoto
Katsura, Yoshiya
Nakano-Akamatsu, Sonoko
Kadowaki, Norimitsu
Maru, Yoshiro
Ito, Etsuro
Ohga, Shouichi
Yagasaki, Hiroshi
Morioka, Ichiro
Yamamoto, Toshiyuki
Kanno, Hitoshi
SpringerLink (Online service)

Other Objects (12)

Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

Scar matrix drives Piezo1 mediated stromal inflammation leading to placenta accreta spectrum

Optical control of PIEZO1 channels

PIEZO1 transduces mechanical itch in mice

A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature

Hereditary xerocytosis: differential behavior of PIEZO1 mutations in the N-terminal extracellular domain between red blood cells and HEK cells

Konferenzbeitrag

Spectrum policy and innovation: A Japanese perspective

Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing

Recurrent Nonimmune Fetal Hydrops Due to a Novel Pathogenic Variant in PIEZO1 Gene: A Case Report from South India

Tumour spectrum in non-BRCA hereditary breast cancer families in Sweden

Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

Scar matrix drives Piezo1 mediated stromal inflammation leading to placenta accreta spectrum

Optical control of PIEZO1 channels

PIEZO1 transduces mechanical itch in mice

A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature

Hereditary xerocytosis: differential behavior of PIEZO1 mutations in the N-terminal extracellular domain between red blood cells and HEK cells

Konferenzbeitrag

Spectrum policy and innovation: A Japanese perspective

Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing

Recurrent Nonimmune Fetal Hydrops Due to a Novel Pathogenic Variant in PIEZO1 Gene: A Case Report from South India

Tumour spectrum in non-BRCA hereditary breast cancer families in Sweden

Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

Scar matrix drives Piezo1 mediated stromal inflammation leading to placenta accreta spectrum

Optical control of PIEZO1 channels

PIEZO1 transduces mechanical itch in mice

A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature

Hereditary xerocytosis: differential behavior of PIEZO1 mutations in the N-terminal extracellular domain between red blood cells and HEK cells

Konferenzbeitrag

Spectrum policy and innovation: A Japanese perspective

Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing

Recurrent Nonimmune Fetal Hydrops Due to a Novel Pathogenic Variant in PIEZO1 Gene: A Case Report from South India

Tumour spectrum in non-BRCA hereditary breast cancer families in Sweden

Cultural heritage institutions wishing to register will find more information here.

Fields marked * need to be filled in.

Username*

Please enter your username

Email*

Please enter your email address

Please do not fill this field

First name

Last name

Password*

Please enter your password

Confirm password*

Please enter the same password

I have read the terms of use and the privacy policy for the collection of personal data and accept them. *

This field is required.

I would like to subscribe to the newsletter of the Deutsche Digitale Bibliothek. See newsletter subscription info.

Account created

Your "My DDB" account has been successfully created. Before you can log in to your account, you must click the confirmation link in the message we just sent to the email address you provided.

Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis

Object Details

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

Scar matrix drives Piezo1 mediated stromal inflammation leading to placenta accreta spectrum

Optical control of PIEZO1 channels

PIEZO1 transduces mechanical itch in mice

A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature

Hereditary xerocytosis: differential behavior of PIEZO1 mutations in the N-terminal extracellular domain between red blood cells and HEK cells

Spectrum policy and innovation: A Japanese perspective

Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing

Recurrent Nonimmune Fetal Hydrops Due to a Novel Pathogenic Variant in PIEZO1 Gene: A Case Report from South India

Tumour spectrum in non-BRCA hereditary breast cancer families in Sweden

Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

Scar matrix drives Piezo1 mediated stromal inflammation leading to placenta accreta spectrum

Optical control of PIEZO1 channels

PIEZO1 transduces mechanical itch in mice

A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature

Hereditary xerocytosis: differential behavior of PIEZO1 mutations in the N-terminal extracellular domain between red blood cells and HEK cells

Spectrum policy and innovation: A Japanese perspective

Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing

Recurrent Nonimmune Fetal Hydrops Due to a Novel Pathogenic Variant in PIEZO1 Gene: A Case Report from South India

Tumour spectrum in non-BRCA hereditary breast cancer families in Sweden

Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

Scar matrix drives Piezo1 mediated stromal inflammation leading to placenta accreta spectrum

Optical control of PIEZO1 channels

PIEZO1 transduces mechanical itch in mice

A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature

Hereditary xerocytosis: differential behavior of PIEZO1 mutations in the N-terminal extracellular domain between red blood cells and HEK cells

Spectrum policy and innovation: A Japanese perspective

Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing

Recurrent Nonimmune Fetal Hydrops Due to a Novel Pathogenic Variant in PIEZO1 Gene: A Case Report from South India

Tumour spectrum in non-BRCA hereditary breast cancer families in Sweden

Related objects

Reset password