Literature DB >> 29220675

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

Simone Sanna-Cherchi, Kamal Khan, Rik Westland, Priya Krithivasan, Lorraine Fievet, Hila Milo Rasouly, Iuliana Ionita-Laza, Valentina P Capone, David A Fasel, Krzysztof Kiryluk, Sitharthan Kamalakaran, Monica Bodria, Edgar A Otto, Matthew G Sampson, Christopher E Gillies, Virginia Vega-Warner, Katarina Vukojevic, Igor Pediaditakis, Gabriel S Makar, Adele Mitrotti, Miguel Verbitsky, Jeremiah Martino, Qingxue Liu, Young-Ji Na, Vinicio Goj, Gianluigi Ardissino, Maddalena Gigante, Loreto Gesualdo, Magdalena Janezcko, Marcin Zaniew, Cathy Lee Mendelsohn, Shirlee Shril, Friedhelm Hildebrandt, Joanna A E van Wijk, Adela Arapovic, Marijan Saraga, Landino Allegri, Claudia Izzi, Francesco Scolari, Velibor Tasic, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna Materna-Kiryluk, Shrikant Mane, David B Goldstein, Richard P Lifton, Nicholas Katsanis, Erica E Davis, Ali G Gharavi.   

Abstract

Entities:  

Year:  2017        PMID： 29220675      PMCID： PMC5812917          DOI： 10.1016/j.ajhg.2017.11.003

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  7 in total

1.  Small RNA Sequencing across Diverse Biofluids Identifies Optimal Methods for exRNA Isolation.

Authors:  Srimeenakshi Srinivasan; Ashish Yeri; Pike See Cheah; Allen Chung; Kirsty Danielson; Peter De Hoff; Justyna Filant; Clara D Laurent; Lucie D Laurent; Rogan Magee; Courtney Moeller; Venkatesh L Murthy; Parham Nejad; Anu Paul; Isidore Rigoutsos; Rodosthenis Rodosthenous; Ravi V Shah; Bridget Simonson; Cuong To; David Wong; Irene K Yan; Xuan Zhang; Leonora Balaj; Xandra O Breakefield; George Daaboul; Roopali Gandhi; Jodi Lapidus; Eric Londin; Tushar Patel; Robert L Raffai; Anil K Sood; Roger P Alexander; Saumya Das; Louise C Laurent
Journal:  Cell       Date:  2019-04-04       Impact factor: 41.582

Review 2.  Advances in our understanding of genetic kidney disease using kidney organoids.

Authors:  Melissa H Little; Catherine Quinlan
Journal:  Pediatr Nephrol       Date:  2019-05-07       Impact factor: 3.714

Review 3.  Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations.

Authors:  Kamal Khan; Dina F Ahram; Yangfan P Liu; Rik Westland; Rosemary V Sampogna; Nicholas Katsanis; Erica E Davis; Simone Sanna-Cherchi
Journal:  Kidney Int       Date:  2021-11-12       Impact factor: 10.612

Review 4.  Prenatal genetic considerations of congenital anomalies of the kidney and urinary tract (CAKUT).

Authors:  Asha N Talati; Carolyn M Webster; Neeta L Vora
Journal:  Prenat Diagn       Date:  2019-08-05       Impact factor: 3.050

5.  Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.

Authors:  Miguel Verbitsky; Priya Krithivasan; Ekaterina Batourina; Atlas Khan; Sarah E Graham; Maddalena Marasà; Hyunwoo Kim; Tze Y Lim; Patricia L Weng; Elena Sánchez-Rodríguez; Adele Mitrotti; Dina F Ahram; Francesca Zanoni; David A Fasel; Rik Westland; Matthew G Sampson; Jun Y Zhang; Monica Bodria; Byum Hee Kil; Shirlee Shril; Loreto Gesualdo; Fabio Torri; Francesco Scolari; Claudia Izzi; Joanna A E van Wijk; Marijan Saraga; Domenico Santoro; Giovanni Conti; David E Barton; Mark G Dobson; Prem Puri; Susan L Furth; Bradley A Warady; Isabella Pisani; Enrico Fiaccadori; Landino Allegri; Maria Ludovica Degl'Innocenti; Giorgio Piaggio; Shumyle Alam; Maddalena Gigante; Gianluigi Zaza; Pasquale Esposito; Fangming Lin; Ana Cristina Simões-E-Silva; Andrzej Brodkiewicz; Dorota Drozdz; Katarzyna Zachwieja; Monika Miklaszewska; Maria Szczepanska; Piotr Adamczyk; Marcin Tkaczyk; Daria Tomczyk; Przemyslaw Sikora; Malgorzata Mizerska-Wasiak; Grazyna Krzemien; Agnieszka Szmigielska; Marcin Zaniew; Vladimir J Lozanovski; Zoran Gucev; Iuliana Ionita-Laza; Ian B Stanaway; David R Crosslin; Craig S Wong; Friedhelm Hildebrandt; Jonathan Barasch; Eimear E Kenny; Ruth J F Loos; Brynn Levy; Gian Marco Ghiggeri; Hakon Hakonarson; Anna Latos-Bieleńska; Anna Materna-Kiryluk; John M Darlow; Velibor Tasic; Cristen Willer; Krzysztof Kiryluk; Simone Sanna-Cherchi; Cathy L Mendelsohn; Ali G Gharavi
Journal:  J Am Soc Nephrol       Date:  2021-02-17       Impact factor: 14.978

6.  Altered Expression of Candidate Genes in Mayer-Rokitansky-Küster-Hauser Syndrome May Influence Vaginal Keratinocytes Biology: A Focus on Protein Kinase X.

Authors:  Paola Pontecorvi; Francesca Megiorni; Simona Camero; Simona Ceccarelli; Laura Bernardini; Anna Capalbo; Eleni Anastasiadou; Giulia Gerini; Elena Messina; Giorgia Perniola; Pierluigi Benedetti Panici; Paola Grammatico; Antonio Pizzuti; Cinzia Marchese
Journal:  Biology (Basel)       Date:  2021-05-21

7.  Copy Number Variations Analysis Identifies QPRT as a Candidate Gene Associated With Susceptibility for Solitary Functioning Kidney.

Authors:  Xiao Y Zhou; Hao Y Zheng; Li Han; Yan Wang; Li Zhang; Xiao M Shu; Mu L Zhang; Guan N Liu; Lian S Ding
Journal:  Front Genet       Date:  2021-05-17       Impact factor: 4.599
  7 in total

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