Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 2041-1723

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment ; volume:9 ; number:1 ; day:17 ; month:5 ; year:2018 ; pages:1-14 ; date:12.2018
Nature Communications ; 9, Heft 1 (17.5.2018), 1-14, 12.2018

Creator: Ashraf, Shazia

Contributor: Kudo, Hiroki
Rao, Jia
Kikuchi, Atsuo
Widmeier, Eugen
Lawson, Jennifer A.
Tan, Weizhen
Hermle, Tobias Franz
Warejko, Jillian K.
Shril, Shirlee
Airik, Merlin
Jobst-Schwan, Tilman
Lovric, Svjetlana
Braun, Daniela A.
Gee, Heon Yung
Schapiro, David
Majmundar, Amar J.
Sadowski, Carolin E.
Pabst, Werner L.
Daga, Ankana
Ven, Amelie T. van der
Schmidt, Johanna M.
Low, Boon Chuan
Gupta, Anjali Bansal
Tripathi, Brajendra K.
Wong, Jenny
Campbell, Kirk
Metcalfe, Kay
Schanze, Denny
Niihori, Tetsuya
Kaito, Hiroshi
Nozu, Kandai
Tsukaguchi, Hiroyasu
Tanaka, Ryojiro
Hamahira, Kiyoshi
Kobayashi, Yasuko
Takizawa, Takumi
Funayama, Ryo
Nakayama, Keiko
Aoki, Yoko
Kumagai, Naonori
Iijima, Kazumoto
Fehrenbach, Henry
Kari, Jameela A.
El Desoky, Sherif
Jalalah, Sawsan
Bogdanovic, Radovan
Stajić, Nataša
Zappel, Hildegard
Rakhmetova, Assel
Wassmer, Sharon-Rose
Jungraithmayr, Therese
Strehlau, Jürgen
Kumar, Aravind Selvin
Bagga, Arvind
Soliman, Neveen A.
Mane, Shrikant M.
Kaufman, Lewis
Lowy, Douglas R.
Jairajpuri, Mohamad A.
Lifton, Richard P.
Pei, York
Zenker, Martin
Kure, Shigeo
Hildebrandt, Friedhelm
SpringerLink (Online service)

DOI: 10.1038/s41467-018-04193-w

URN: urn:nbn:de:101:1-2018071520400168882761

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:29 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

Ashraf, Shazia
Kudo, Hiroki
Rao, Jia
Kikuchi, Atsuo
Widmeier, Eugen
Lawson, Jennifer A.
Tan, Weizhen
Hermle, Tobias Franz
Warejko, Jillian K.
Shril, Shirlee
Airik, Merlin
Jobst-Schwan, Tilman
Lovric, Svjetlana
Braun, Daniela A.
Gee, Heon Yung
Schapiro, David
Majmundar, Amar J.
Sadowski, Carolin E.
Pabst, Werner L.
Daga, Ankana
Ven, Amelie T. van der
Schmidt, Johanna M.
Low, Boon Chuan
Gupta, Anjali Bansal
Tripathi, Brajendra K.
Wong, Jenny
Campbell, Kirk
Metcalfe, Kay
Schanze, Denny
Niihori, Tetsuya
Kaito, Hiroshi
Nozu, Kandai
Tsukaguchi, Hiroyasu
Tanaka, Ryojiro
Hamahira, Kiyoshi
Kobayashi, Yasuko
Takizawa, Takumi
Funayama, Ryo
Nakayama, Keiko
Aoki, Yoko
Kumagai, Naonori
Iijima, Kazumoto
Fehrenbach, Henry
Kari, Jameela A.
El Desoky, Sherif
Jalalah, Sawsan
Bogdanovic, Radovan
Stajić, Nataša
Zappel, Hildegard
Rakhmetova, Assel
Wassmer, Sharon-Rose
Jungraithmayr, Therese
Strehlau, Jürgen
Kumar, Aravind Selvin
Bagga, Arvind
Soliman, Neveen A.
Mane, Shrikant M.
Kaufman, Lewis
Lowy, Douglas R.
Jairajpuri, Mohamad A.
Lifton, Richard P.
Pei, York
Zenker, Martin
Kure, Shigeo
Hildebrandt, Friedhelm
SpringerLink (Online service)

Other Objects (12)

HNPCC: Six new pathogenic mutations

Minisequencing mitochondrial DNA pathogenic mutations

Phenotypic characterization of pathogenic mutations in GPIBDs

Protein destabilization underlies pathogenic missense mutations in ARID1B

Prioritization of pathogenic mutations in the protein kinase superfamily

Characterization of pathogenic germline mutations in human Protein Kinases

Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations

Pathogenic mutations in UBQLN2 exhibit diverse aggregation propensity and neurotoxicity

Pathogenic mutations of human phosphorylation sites affect protein–protein interactions

Clinical challenges in interpreting multiple pathogenic mutations in single patients

Identification of Pathogenic Missense Mutations of NF1 Using Computational Approaches

Absence of pathogenic mitochondrial DNA mutations in mouse brain tumors

HNPCC: Six new pathogenic mutations

Minisequencing mitochondrial DNA pathogenic mutations

Phenotypic characterization of pathogenic mutations in GPIBDs

Protein destabilization underlies pathogenic missense mutations in ARID1B

Prioritization of pathogenic mutations in the protein kinase superfamily

Characterization of pathogenic germline mutations in human Protein Kinases

Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations

Pathogenic mutations in UBQLN2 exhibit diverse aggregation propensity and neurotoxicity

Pathogenic mutations of human phosphorylation sites affect protein–protein interactions

Clinical challenges in interpreting multiple pathogenic mutations in single patients

Identification of Pathogenic Missense Mutations of NF1 Using Computational Approaches

Absence of pathogenic mitochondrial DNA mutations in mouse brain tumors

HNPCC: Six new pathogenic mutations

Minisequencing mitochondrial DNA pathogenic mutations

Phenotypic characterization of pathogenic mutations in GPIBDs

Protein destabilization underlies pathogenic missense mutations in ARID1B

Prioritization of pathogenic mutations in the protein kinase superfamily

Characterization of pathogenic germline mutations in human Protein Kinases

Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations

Pathogenic mutations in UBQLN2 exhibit diverse aggregation propensity and neurotoxicity

Pathogenic mutations of human phosphorylation sites affect protein–protein interactions

Clinical challenges in interpreting multiple pathogenic mutations in single patients

Identification of Pathogenic Missense Mutations of NF1 Using Computational Approaches

Absence of pathogenic mitochondrial DNA mutations in mouse brain tumors

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.

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

Object Details

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

HNPCC: Six new pathogenic mutations

Minisequencing mitochondrial DNA pathogenic mutations

Phenotypic characterization of pathogenic mutations in GPIBDs

Protein destabilization underlies pathogenic missense mutations in ARID1B

Prioritization of pathogenic mutations in the protein kinase superfamily

Characterization of pathogenic germline mutations in human Protein Kinases

Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations

Pathogenic mutations in UBQLN2 exhibit diverse aggregation propensity and neurotoxicity

Pathogenic mutations of human phosphorylation sites affect protein–protein interactions

Clinical challenges in interpreting multiple pathogenic mutations in single patients

Identification of Pathogenic Missense Mutations of NF1 Using Computational Approaches

Absence of pathogenic mitochondrial DNA mutations in mouse brain tumors

HNPCC: Six new pathogenic mutations

Minisequencing mitochondrial DNA pathogenic mutations

Phenotypic characterization of pathogenic mutations in GPIBDs

Protein destabilization underlies pathogenic missense mutations in ARID1B

Prioritization of pathogenic mutations in the protein kinase superfamily

Characterization of pathogenic germline mutations in human Protein Kinases

Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations

Pathogenic mutations in UBQLN2 exhibit diverse aggregation propensity and neurotoxicity

Pathogenic mutations of human phosphorylation sites affect protein–protein interactions

Clinical challenges in interpreting multiple pathogenic mutations in single patients

Identification of Pathogenic Missense Mutations of NF1 Using Computational Approaches

Absence of pathogenic mitochondrial DNA mutations in mouse brain tumors

HNPCC: Six new pathogenic mutations

Minisequencing mitochondrial DNA pathogenic mutations

Phenotypic characterization of pathogenic mutations in GPIBDs

Protein destabilization underlies pathogenic missense mutations in ARID1B

Prioritization of pathogenic mutations in the protein kinase superfamily

Characterization of pathogenic germline mutations in human Protein Kinases

Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations

Pathogenic mutations in UBQLN2 exhibit diverse aggregation propensity and neurotoxicity

Pathogenic mutations of human phosphorylation sites affect protein–protein interactions

Clinical challenges in interpreting multiple pathogenic mutations in single patients

Identification of Pathogenic Missense Mutations of NF1 Using Computational Approaches

Absence of pathogenic mitochondrial DNA mutations in mouse brain tumors

Related objects

Reset password