Literature DB >> 30120109

MUC1 Makes Me Miserable.

Daniel P Gale1, Robert Kleta1.   

Abstract

Entities:  

Keywords:  adtkd; genetic renal disease; mucin

Mesh：

Substances：

Year:  2018        PMID： 30120109      PMCID： PMC6115660          DOI： 10.1681/ASN.2018070742

Source DB:  PubMed          Journal:  J Am Soc Nephrol        ISSN： 1046-6673            Impact factor:   10.121


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  12 in total

1.  Analysis of mammalian MUC1 genes reveals potential functionally important domains.

Authors:  A P Spicer; T Duhig; B S Chilton; S J Gendler
Journal:  Mamm Genome       Date:  1995-12       Impact factor: 2.957

Review 2.  Novel roles for mucin 1 in the kidney.

Authors:  Mohammad M Al-Bataineh; Timothy A Sutton; Rebecca P Hughey
Journal:  Curr Opin Nephrol Hypertens       Date:  2017-09       Impact factor: 2.894

3.  Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease.

Authors:  K Christodoulou; M Tsingis; C Stavrou; A Eleftheriou; P Papapavlou; P C Patsalis; P Ioannou; A Pierides; C Constantinou Deltas
Journal:  Hum Mol Genet       Date:  1998-05       Impact factor: 6.150

4.  Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition.

Authors:  Karl X Knaup; Thomas Hackenbeck; Bernt Popp; Johanna Stoeckert; Andrea Wenzel; Maike Büttner-Herold; Frederick Pfister; Markus Schueler; Didem Seven; Annette M May; Jan Halbritter; Hermann-Josef Gröne; André Reis; Bodo B Beck; Kerstin Amann; Arif B Ekici; Michael S Wiesener
Journal:  J Am Soc Nephrol       Date:  2018-07-26       Impact factor: 10.121

5.  Identification of a new locus for medullary cystic disease, on chromosome 16p12.

Authors:  F Scolari; D Puzzer; A Amoroso; G Caridi; G M Ghiggeri; R Maiorca; P Aridon; M De Fusco; A Ballabio; G Casari
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

6.  Mitochondrial Dysregulation Secondary to Endoplasmic Reticulum Stress in Autosomal Dominant Tubulointerstitial Kidney Disease - UMOD (ADTKD-UMOD).

Authors:  Elisabeth Kemter; Thomas Fröhlich; Georg J Arnold; Eckhard Wolf; Rüdiger Wanke
Journal:  Sci Rep       Date:  2017-02-21       Impact factor: 4.379

7.  Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.

Authors:  Thomas M Connor; Simon Hoer; Andrew Mallett; Daniel P Gale; Aurora Gomez-Duran; Viktor Posse; Robin Antrobus; Pablo Moreno; Marco Sciacovelli; Christian Frezza; Jennifer Duff; Neil S Sheerin; John A Sayer; Margaret Ashcroft; Michael S Wiesener; Gavin Hudson; Claes M Gustafsson; Patrick F Chinnery; Patrick H Maxwell
Journal:  PLoS Genet       Date:  2017-03-07       Impact factor: 5.917

8.  Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.

Authors:  Luca Rampoldi; Gianluca Caridi; Daniela Santon; Francesca Boaretto; Ilenia Bernascone; Giuseppe Lamorte; Regina Tardanico; Monica Dagnino; Giacomo Colussi; Francesco Scolari; Gian Marco Ghiggeri; Antonio Amoroso; Giorgio Casari
Journal:  Hum Mol Genet       Date:  2003-10-21       Impact factor: 6.150

9.  Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response.

Authors:  Céline Schaeffer; Stefania Merella; Elena Pasqualetto; Dejan Lazarevic; Luca Rampoldi
Journal:  PLoS One       Date:  2017-04-24       Impact factor: 3.240

10.  Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 protein.

Authors:  Satoko Yamamoto; Jun-Ya Kaimori; Takuji Yoshimura; Tomoko Namba; Atsuko Imai; Kaori Kobayashi; Ryoichi Imamura; Naotsugu Ichimaru; Kazuto Kato; Akihiro Nakaya; Shiro Takahara; Yoshitaka Isaka
Journal:  Nephrol Dial Transplant       Date:  2017-12-01       Impact factor: 5.992
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  1 in total

1.  Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland.

Authors:  S Cormican; D M Connaughton; C Kennedy; S Murray; M Živná; S Kmoch; N K Fennelly; P O'Kelly; K A Benson; E T Conlon; G Cavalleri; C Foley; B Doyle; A Dorman; M A Little; P Lavin; K Kidd; A J Bleyer; P J Conlon
Journal:  Ren Fail       Date:  2019-11       Impact factor: 2.606
  1 in total

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