Literature DB >> 31601610

New Ways of Finding New Genes for Old Diseases.

Richard N Sandford1.   

Abstract

Keywords:  ADPKD; genetic renal disease; human genetics

Mesh：

Substances：

Year:  2019        PMID： 31601610      PMCID： PMC6830799          DOI： 10.1681/ASN.2019090940

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


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  11 in total

1.  Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease.

Authors:  Emilie Cornec-Le Gall; Rory J Olson; Whitney Besse; Christina M Heyer; Vladimir G Gainullin; Jessica M Smith; Marie-Pierre Audrézet; Katharina Hopp; Binu Porath; Beili Shi; Saurabh Baheti; Sarah R Senum; Jennifer Arroyo; Charles D Madsen; Claude Férec; Dominique Joly; François Jouret; Oussamah Fikri-Benbrahim; Christophe Charasse; Jean-Marie Coulibaly; Alan S Yu; Korosh Khalili; York Pei; Stefan Somlo; Yannick Le Meur; Vicente E Torres; Peter C Harris
Journal:  Am J Hum Genet       Date:  2018-04-26       Impact factor: 11.025

2.  Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.

Authors:  Frederick E Dewey; Michael F Murray; John D Overton; Lukas Habegger; Joseph B Leader; Samantha N Fetterolf; Colm O'Dushlaine; Cristopher V Van Hout; Jeffrey Staples; Claudia Gonzaga-Jauregui; Raghu Metpally; Sarah A Pendergrass; Monica A Giovanni; H Lester Kirchner; Suganthi Balasubramanian; Noura S Abul-Husn; Dustin N Hartzel; Daniel R Lavage; Korey A Kost; Jonathan S Packer; Alexander E Lopez; John Penn; Semanti Mukherjee; Nehal Gosalia; Manoj Kanagaraj; Alexander H Li; Lyndon J Mitnaul; Lance J Adams; Thomas N Person; Kavita Praveen; Anthony Marcketta; Matthew S Lebo; Christina A Austin-Tse; Heather M Mason-Suares; Shannon Bruse; Scott Mellis; Robert Phillips; Neil Stahl; Andrew Murphy; Aris Economides; Kimberly A Skelding; Christopher D Still; James R Elmore; Ingrid B Borecki; George D Yancopoulos; F Daniel Davis; William A Faucett; Omri Gottesman; Marylyn D Ritchie; Alan R Shuldiner; Jeffrey G Reid; David H Ledbetter; Aris Baras; David J Carey
Journal:  Science       Date:  2016-12-23       Impact factor: 47.728

Review 3.  Autosomal dominant polycystic kidney disease.

Authors:  Emilie Cornec-Le Gall; Ahsan Alam; Ronald D Perrone
Journal:  Lancet       Date:  2019-02-25       Impact factor: 79.321

4.  Imaging classification of autosomal dominant polycystic kidney disease: a simple model for selecting patients for clinical trials.

Authors:  María V Irazabal; Laureano J Rangel; Eric J Bergstralh; Sara L Osborn; Amber J Harmon; Jamie L Sundsbak; Kyongtae T Bae; Arlene B Chapman; Jared J Grantham; Michal Mrug; Marie C Hogan; Ziad M El-Zoghby; Peter C Harris; Bradley J Erickson; Bernard F King; Vicente E Torres
Journal:  J Am Soc Nephrol       Date:  2014-06-05       Impact factor: 10.121

5.  ALG9 Mutation Carriers Develop Kidney and Liver Cysts.

Authors:  Whitney Besse; Alex R Chang; Jonathan Z Luo; William J Triffo; Bryn S Moore; Ashima Gulati; Dustin N Hartzel; Shrikant Mane; Vicente E Torres; Stefan Somlo; Tooraj Mirshahi
Journal:  J Am Soc Nephrol       Date:  2019-08-08       Impact factor: 10.121

6.  Volume progression in polycystic kidney disease.

Authors:  Jared J Grantham; Vicente E Torres; Arlene B Chapman; Lisa M Guay-Woodford; Kyongtae T Bae; Bernard F King; Louis H Wetzel; Deborah A Baumgarten; Phillip J Kenney; Peter C Harris; Saulo Klahr; William M Bennett; Gladys N Hirschman; Catherine M Meyers; Xiaoling Zhang; Fang Zhu; John P Miller
Journal:  N Engl J Med       Date:  2006-05-18       Impact factor: 91.245

7.  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:  2017-09-01       Impact factor: 14.808

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.  New loci associated with kidney function and chronic kidney disease.

Authors:  Anna Köttgen; Cristian Pattaro; Carsten A Böger; Christian Fuchsberger; Matthias Olden; Nicole L Glazer; Afshin Parsa; Xiaoyi Gao; Qiong Yang; Albert V Smith; Jeffrey R O'Connell; Man Li; Helena Schmidt; Toshiko Tanaka; Aaron Isaacs; Shamika Ketkar; Shih-Jen Hwang; Andrew D Johnson; Abbas Dehghan; Alexander Teumer; Guillaume Paré; Elizabeth J Atkinson; Tanja Zeller; Kurt Lohman; Marilyn C Cornelis; Nicole M Probst-Hensch; Florian Kronenberg; Anke Tönjes; Caroline Hayward; Thor Aspelund; Gudny Eiriksdottir; Lenore J Launer; Tamara B Harris; Evadnie Rampersaud; Braxton D Mitchell; Dan E Arking; Eric Boerwinkle; Maksim Struchalin; Margherita Cavalieri; Andrew Singleton; Francesco Giallauria; Jeffrey Metter; Ian H de Boer; Talin Haritunians; Thomas Lumley; David Siscovick; Bruce M Psaty; M Carola Zillikens; Ben A Oostra; Mary Feitosa; Michael Province; Mariza de Andrade; Stephen T Turner; Arne Schillert; Andreas Ziegler; Philipp S Wild; Renate B Schnabel; Sandra Wilde; Thomas F Munzel; Tennille S Leak; Thomas Illig; Norman Klopp; Christa Meisinger; H-Erich Wichmann; Wolfgang Koenig; Lina Zgaga; Tatijana Zemunik; Ivana Kolcic; Cosetta Minelli; Frank B Hu; Asa Johansson; Wilmar Igl; Ghazal Zaboli; Sarah H Wild; Alan F Wright; Harry Campbell; David Ellinghaus; Stefan Schreiber; Yurii S Aulchenko; Janine F Felix; Fernando Rivadeneira; Andre G Uitterlinden; Albert Hofman; Medea Imboden; Dorothea Nitsch; Anita Brandstätter; Barbara Kollerits; Lyudmyla Kedenko; Reedik Mägi; Michael Stumvoll; Peter Kovacs; Mladen Boban; Susan Campbell; Karlhans Endlich; Henry Völzke; Heyo K Kroemer; Matthias Nauck; Uwe Völker; Ozren Polasek; Veronique Vitart; Sunita Badola; Alexander N Parker; Paul M Ridker; Sharon L R Kardia; Stefan Blankenberg; Yongmei Liu; Gary C Curhan; Andre Franke; Thierry Rochat; Bernhard Paulweber; Inga Prokopenko; Wei Wang; Vilmundur Gudnason; Alan R Shuldiner; Josef Coresh; Reinhold Schmidt; Luigi Ferrucci; Michael G Shlipak; Cornelia M van Duijn; Ingrid Borecki; Bernhard K Krämer; Igor Rudan; Ulf Gyllensten; James F Wilson; Jacqueline C Witteman; Peter P Pramstaller; Rainer Rettig; Nick Hastie; Daniel I Chasman; W H Kao; Iris M Heid; Caroline S Fox
Journal:  Nat Genet       Date:  2010-04-11       Impact factor: 38.330

10.  ALG9-CDG: New clinical case and review of the literature.

Authors:  Kellie Davis; Duncan Webster; Chris Smith; Sheryl Jackson; David Sinasac; Lorne Seargeant; Xing-Chang Wei; Patrick Ferreira; Julian Midgley; Yolanda Foster; Xueli Li; Miao He; Walla Al-Hertani
Journal:  Mol Genet Metab Rep       Date:  2017-09-06
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