Literature DB >> 28736432

Polycystic kidney disease: DZIP1L defines a new functional zip code for autosomal recessive PKD.

Erum A Hartung1, Lisa M Guay-Woodford2.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2017        PMID： 28736432     DOI： 10.1038/nrneph.2017.102

Source DB:  PubMed          Journal:  Nat Rev Nephrol        ISSN： 1759-5061            Impact factor:   28.314


× No keyword cloud information.
  9 in total

1.  Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.

Authors:  Jiwon M Lee; Yo Han Ahn; Hee Gyung Kang; I I Soo Ha; Kyoungbun Lee; Kyung Chul Moon; Joo Hoon Lee; Young Seo Park; Yong Mee Cho; Jun-Seok Bae; Nayoung K D Kim; Woong-Yang Park; Hae I I Cheong
Journal:  Pediatr Nephrol       Date:  2015-03-01       Impact factor: 3.714

2.  Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.

Authors:  Hao Lu; Maria C Rondón Galeano; Elisabeth Ott; Geraldine Kaeslin; P Jaya Kausalya; Carina Kramer; Nadina Ortiz-Brüchle; Nadescha Hilger; Vicki Metzis; Milan Hiersche; Shang Yew Tay; Robert Tunningley; Shubha Vij; Andrew D Courtney; Belinda Whittle; Elke Wühl; Udo Vester; Björn Hartleben; Steffen Neuber; Valeska Frank; Melissa H Little; Daniel Epting; Peter Papathanasiou; Andrew C Perkins; Graham D Wright; Walter Hunziker; Heon Yung Gee; Edgar A Otto; Klaus Zerres; Friedhelm Hildebrandt; Sudipto Roy; Carol Wicking; Carsten Bergmann
Journal:  Nat Genet       Date:  2017-05-22       Impact factor: 38.330

Review 3.  Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects.

Authors:  Erum A Hartung; Lisa M Guay-Woodford
Journal:  Pediatrics       Date:  2014-08-11       Impact factor: 7.124

Review 4.  Ciliary Mechanisms of Cyst Formation in Polycystic Kidney Disease.

Authors:  Ming Ma; Anna-Rachel Gallagher; Stefan Somlo
Journal:  Cold Spring Harb Perspect Biol       Date:  2017-11-01       Impact factor: 10.005

5.  Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.

Authors:  Kálmán Tory; Caroline Rousset-Rouvière; Marie-Claire Gubler; Vincent Morinière; Audrey Pawtowski; Céline Becker; Claude Guyot; Sophie Gié; Yaacov Frishberg; Hubert Nivet; Georges Deschênes; Pierre Cochat; Marie-France Gagnadoux; Sophie Saunier; Corinne Antignac; Rémi Salomon
Journal:  Kidney Int       Date:  2009-01-28       Impact factor: 10.612

6.  Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference.

Authors:  Lisa M Guay-Woodford; John J Bissler; Michael C Braun; Detlef Bockenhauer; Melissa A Cadnapaphornchai; Katherine M Dell; Larissa Kerecuk; Max C Liebau; Maria H Alonso-Peclet; Benjamin Shneider; Sukru Emre; Theo Heller; Binita M Kamath; Karen F Murray; Kenneth Moise; Eric E Eichenwald; Jacquelyn Evans; Roberta L Keller; Louise Wilkins-Haug; Carsten Bergmann; Meral Gunay-Aygun; Stephen R Hooper; Kristina K Hardy; Erum A Hartung; Randi Streisand; Ronald Perrone; Marva Moxey-Mims
Journal:  J Pediatr       Date:  2014-07-09       Impact factor: 4.406

Review 7.  The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate.

Authors:  João Gonçalves; Laurence Pelletier
Journal:  Mol Cells       Date:  2017-04-12       Impact factor: 5.034

Review 8.  Uncovering the Roles of Septins in Cilia.

Authors:  Oliva Palander; Maha El-Zeiry; William S Trimble
Journal:  Front Cell Dev Biol       Date:  2017-04-06

Review 9.  ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies.

Authors:  Carsten Bergmann
Journal:  Pediatr Nephrol       Date:  2014-03-01       Impact factor: 3.714
  9 in total
  3 in total

Review 1.  Polycystic kidney disease.

Authors:  Carsten Bergmann; Lisa M Guay-Woodford; Peter C Harris; Shigeo Horie; Dorien J M Peters; Vicente E Torres
Journal:  Nat Rev Dis Primers       Date:  2018-12-06       Impact factor: 52.329

Review 2.  Autosomal Recessive Polycystic Kidney Disease-The Clinical Aspects and Diagnostic Challenges.

Authors:  Dorota Wicher; Łukasz Obrycki; Irena Jankowska
Journal:  J Pediatr Genet       Date:  2020-07-29

Review 3.  The Genetic and Cellular Basis of Autosomal Dominant Polycystic Kidney Disease-A Primer for Clinicians.

Authors:  Adrián Cordido; Lara Besada-Cerecedo; Miguel A García-González
Journal:  Front Pediatr       Date:  2017-12-18       Impact factor: 3.418
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.