Literature DB >> 28559591

Genetics: Novel causative genes for polycystic liver disease.

María J Perugorria1, Jesús M Banales1.   

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Year:  2017        PMID： 28559591     DOI： 10.1038/nrgastro.2017.69

Source DB:  PubMed          Journal:  Nat Rev Gastroenterol Hepatol        ISSN： 1759-5045            Impact factor:   46.802


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  10 in total

1.  Mutations in SEC63 cause autosomal dominant polycystic liver disease.

Authors:  Sonia Davila; Laszlo Furu; Ali G Gharavi; Xin Tian; Tamehito Onoe; Qi Qian; Airong Li; Yiqiang Cai; Patrick S Kamath; Bernard F King; Pablo J Azurmendi; Pia Tahvanainen; Helena Kääriäinen; Krister Höckerstedt; Olivier Devuyst; Yves Pirson; Rodolfo S Martin; Richard P Lifton; Esa Tahvanainen; Vicente E Torres; Stefan Somlo
Journal:  Nat Genet       Date:  2004-05-09       Impact factor: 38.330

2.  PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.

Authors:  T Mochizuki; G Wu; T Hayashi; S L Xenophontos; B Veldhuisen; J J Saris; D M Reynolds; Y Cai; P A Gabow; A Pierides; W J Kimberling; M H Breuning; C C Deltas; D J Peters; S Somlo
Journal:  Science       Date:  1996-05-31       Impact factor: 47.728

Review 3.  Polycystic liver diseases: advanced insights into the molecular mechanisms.

Authors:  Maria J Perugorria; Tatyana V Masyuk; Jose J Marin; Marco Marzioni; Luis Bujanda; Nicholas F LaRusso; Jesus M Banales
Journal:  Nat Rev Gastroenterol Hepatol       Date:  2014-09-30       Impact factor: 46.802

4.  The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.

Authors:  Christopher J Ward; Marie C Hogan; Sandro Rossetti; Denise Walker; Tam Sneddon; Xiaofang Wang; Vicky Kubly; Julie M Cunningham; Robert Bacallao; Masahiko Ishibashi; Dawn S Milliner; Vicente E Torres; Peter C Harris
Journal:  Nat Genet       Date:  2002-02-04       Impact factor: 38.330

5.  A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation.

Authors:  Sorin V Fedeles; Xin Tian; Anna-Rachel Gallagher; Michihiro Mitobe; Saori Nishio; Seung Hun Lee; Yiqiang Cai; Lin Geng; Craig M Crews; Stefan Somlo
Journal:  Nat Genet       Date:  2011-06-19       Impact factor: 38.330

6.  Isolated polycystic liver disease genes define effectors of polycystin-1 function.

Authors:  Whitney Besse; Ke Dong; Jungmin Choi; Sohan Punia; Sorin V Fedeles; Murim Choi; Anna-Rachel Gallagher; Emily B Huang; Ashima Gulati; James Knight; Shrikant Mane; Esa Tahvanainen; Pia Tahvanainen; Simone Sanna-Cherchi; Richard P Lifton; Terry Watnick; York P Pei; Vicente E Torres; Stefan Somlo
Journal:  J Clin Invest       Date:  2017-04-04       Impact factor: 14.808

7.  Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease.

Authors:  Joost P H Drenth; Rene H M te Morsche; Renate Smink; Juan S Bonifacino; Jan B M J Jansen
Journal:  Nat Genet       Date:  2003-02-10       Impact factor: 38.330

8.  Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.

Authors:  Binu Porath; Vladimir G Gainullin; Emilie Cornec-Le Gall; Elizabeth K Dillinger; Christina M Heyer; Katharina Hopp; Marie E Edwards; Charles D Madsen; Sarah R Mauritz; Carly J Banks; Saurabh Baheti; Bharathi Reddy; José Ignacio Herrero; Jesús M Bañales; Marie C Hogan; Velibor Tasic; Terry J Watnick; Arlene B Chapman; Cécile Vigneau; Frédéric Lavainne; Marie-Pierre Audrézet; Claude Ferec; Yannick Le Meur; Vicente E Torres; Peter C Harris
Journal:  Am J Hum Genet       Date:  2016-06-02       Impact factor: 11.025

9.  Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis.

Authors:  Wybrich R Cnossen; René H M te Morsche; Alexander Hoischen; Christian Gilissen; Melissa Chrispijn; Hanka Venselaar; Soufi Mehdi; Carsten Bergmann; Joris A Veltman; Joost P H Drenth
Journal:  Proc Natl Acad Sci U S A       Date:  2014-03-24       Impact factor: 11.205

10.  The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium.

Authors: 
Journal:  Cell       Date:  1994-06-17       Impact factor: 41.582
  10 in total
  5 in total

Review 1.  Pathobiology of inherited biliary diseases: a roadmap to understand acquired liver diseases.

Authors:  Luca Fabris; Romina Fiorotto; Carlo Spirli; Massimiliano Cadamuro; Valeria Mariotti; Maria J Perugorria; Jesus M Banales; Mario Strazzabosco
Journal:  Nat Rev Gastroenterol Hepatol       Date:  2019-08       Impact factor: 46.802

2.  Proteostasis disturbances and endoplasmic reticulum stress contribute to polycystic liver disease: New therapeutic targets.

Authors:  Alvaro Santos-Laso; Laura Izquierdo-Sanchez; Pedro M Rodrigues; Bing Q Huang; Mikel Azkargorta; Ainhoa Lapitz; Patricia Munoz-Garrido; Ander Arbelaiz; Francisco J Caballero-Camino; Maite G Fernández-Barrena; Raul Jimenez-Agüero; Josepmaria Argemi; Tomas Aragon; Felix Elortza; Marco Marzioni; Joost P H Drenth; Nicholas F LaRusso; Luis Bujanda; Maria J Perugorria; Jesus M Banales
Journal:  Liver Int       Date:  2020-05-06       Impact factor: 5.828

3.  Autophagy promotes hepatic cystogenesis in polycystic liver disease by depletion of cholangiocyte ciliogenic proteins.

Authors:  Anatoliy I Masyuk; Tatyana V Masyuk; Christy E Trussoni; Nicholas E Pirius; Nicholas F LaRusso
Journal:  Hepatology       Date:  2022-02-08       Impact factor: 17.298

4.  Activation of the Unfolded Protein Response (UPR) Is Associated with Cholangiocellular Injury, Fibrosis and Carcinogenesis in an Experimental Model of Fibropolycystic Liver Disease.

Authors:  Chaobo Chen; Hanghang Wu; Hui Ye; Agustín Tortajada; Sandra Rodríguez-Perales; Raúl Torres-Ruiz; August Vidal; Maria Isabel Peligros; Johanna Reissing; Tony Bruns; Mohamed Ramadan Mohamed; Kang Zheng; Amaia Lujambio; Maria J Iraburu; Leticia Colyn; Maria Ujue Latasa; María Arechederra; Maite G Fernández-Barrena; Carmen Berasain; Javier Vaquero; Rafael Bañares; Leonard J Nelson; Christian Trautwein; Roger J Davis; Eduardo Martinez-Naves; Yulia A Nevzorova; Alberto Villanueva; Matias A Avila; Francisco Javier Cubero
Journal:  Cancers (Basel)       Date:  2021-12-24       Impact factor: 6.639

5.  Genome Profiling for Aflatoxin B1 Resistance in Saccharomyces cerevisiae Reveals a Role for the CSM2/SHU Complex in Tolerance of Aflatoxin B1-Associated DNA Damage.

Authors:  Nick St John; Julian Freedland; Henri Baldino; Francis Doyle; Cinzia Cera; Thomas Begley; Michael Fasullo
Journal:  G3 (Bethesda)       Date:  2020-11-05       Impact factor: 3.154
  5 in total

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