Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 protein (Q47331609)

14 January 2018

http://europepmc.org/abstract/MED/29156055

title

Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 protein (English)

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14 January 2018

http://europepmc.org/abstract/MED/29156055

author

Takuji Yoshimura

3

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9 June 2020

author name string

Satoko Yamamoto

1

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9 June 2020

Jun-Ya Kaimori

2

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9 June 2020

Tomoko Namba

4

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9 June 2020

Atsuko Imai

5

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9 June 2020

Kaori Kobayashi

6

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9 June 2020

Ryoichi Imamura

7

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9 June 2020

Naotsugu Ichimaru

8

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9 June 2020

Kazuto Kato

9

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9 June 2020

Akihiro Nakaya

10

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9 June 2020

Shiro Takahara

11

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9 June 2020

Yoshitaka Isaka

12

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9 June 2020

language of work or name

English

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publication date

1 June 2017

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14 January 2018

http://europepmc.org/abstract/MED/29156055

number of pages

8

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based on heuristic

inferred from page(s)

published in

Nephrology Dialysis Transplantation

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9 June 2020

volume

32

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9 June 2020

issue

12

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9 June 2020

page(s)

2010-2017

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Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report

9 June 2020

cites work

1 reference

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Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

21 January 2018

1 reference

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Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy

21 January 2018

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Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure

21 January 2018

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A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta

21 January 2018

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Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

21 January 2018

1 reference

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Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.

21 January 2018

1 reference

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Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families.

21 January 2018

1 reference

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Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1

21 January 2018

1 reference

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Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing

21 January 2018

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Autosomal Dominant Tubulointerstitial Kidney Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFX083

Mucin-1 Increases Renal TRPV5 Activity In Vitro, and Urinary Level Associates with Calcium Nephrolithiasis in Patients

21 January 2018

1 reference

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Structure and function of the cell surface (tethered) mucins

21 January 2018

1 reference

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The role of the SEA (sea urchin sperm protein, enterokinase and agrin) module in cleavage of membrane-tethered mucins

21 January 2018

1 reference

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Core-glycosylated mucin-like repeats from MUC1 are an apical targeting signal

21 January 2018

1 reference

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Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 January 2018

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

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An integrated map of genetic variation from 1,092 human genomes

21 January 2018

1 reference

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I-TASSER server for protein 3D structure prediction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFX083

I-TASSER: a unified platform for automated protein structure and function prediction

21 January 2018

1 reference

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Human urinary exosome proteome unveils its aerobic respiratory ability

21 January 2018

1 reference

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Muc1 is protective during kidney ischemia-reperfusion injury

21 January 2018

1 reference

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MUC1, a new hypoxia inducible factor target gene, is an actor in clear renal cell carcinoma tumor progression

21 January 2018

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Collection, storage, preservation, and normalization of human urinary exosomes for biomarker discovery

21 January 2018

1 reference

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Identification and proteomic profiling of exosomes in human urine

21 January 2018

1 reference

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Refinement of the Gene Locus for Autosomal Dominant Medullary Cystic Kidney Disease Type 1 (MCKD1) and Construction of a Physical and Partial Transcriptional Map of the Region

21 January 2018

1 reference

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Telomeric refinement of the MCKD1 locuson chromosome 1q21**See Editorial by Bichet and Fujiwara, p. 864

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1093/NDT/GFX083

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29156055%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

1 reference