Literature DB >> 31656805

Expanding congenital abnormalities of the kidney and urinary tract (CAKUT) genetics: basonuclin 2 (BNC2) and lower urinary tract obstruction.

Raul Fernandez-Prado1, Mehmet Kanbay2, Alberto Ortiz1, Maria Vanessa Perez-Gomez1.   

Abstract

Entities:  

Year:  2019        PMID： 31656805      PMCID： PMC6789316          DOI： 10.21037/atm.2019.08.73

Source DB:  PubMed          Journal:  Ann Transl Med        ISSN： 2305-5839


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  35 in total

1.  The zinc-finger protein basonuclin 2 is required for proper mitotic arrest, prevention of premature meiotic initiation and meiotic progression in mouse male germ cells.

Authors:  Amandine Vanhoutteghem; Sébastien Messiaen; Françoise Hervé; Brigitte Delhomme; Delphine Moison; Jean-Maurice Petit; Virginie Rouiller-Fabre; Gabriel Livera; Philippe Djian
Journal:  Development       Date:  2014-10-24       Impact factor: 6.868

Review 2.  Genetic basis of human congenital anomalies of the kidney and urinary tract.

Authors:  Simone Sanna-Cherchi; Rik Westland; Gian Marco Ghiggeri; Ali G Gharavi
Journal:  J Clin Invest       Date:  2018-01-02       Impact factor: 14.808

3.  Genetic variants associated with skin aging in the Chinese Han population.

Authors:  Wenshan Gao; Jingze Tan; Anke Hüls; Anan Ding; Yu Liu; Mary S Matsui; Andrea Vierkötter; Jean Krutmann; Tamara Schikowski; Li Jin; Sijia Wang
Journal:  J Dermatol Sci       Date:  2016-12-22       Impact factor: 4.563

4.  Genome-Wide Gene-Potassium Interaction Analyses on Blood Pressure: The GenSalt Study (Genetic Epidemiology Network of Salt Sensitivity).

Authors:  Changwei Li; Jiang He; Jing Chen; Jinying Zhao; Dongfeng Gu; James E Hixson; Dabeeru C Rao; Cashell E Jaquish; Treva K Rice; Yun Ju Sung; Tanika N Kelly
Journal:  Circ Cardiovasc Genet       Date:  2017-12

5.  Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.

Authors:  Amelie T van der Ven; Dervla M Connaughton; Hadas Ityel; Nina Mann; Makiko Nakayama; Jing Chen; Asaf Vivante; Daw-Yang Hwang; Julian Schulz; Daniela A Braun; Johanna Magdalena Schmidt; David Schapiro; Ronen Schneider; Jillian K Warejko; Ankana Daga; Amar J Majmundar; Weizhen Tan; Tilman Jobst-Schwan; Tobias Hermle; Eugen Widmeier; Shazia Ashraf; Ali Amar; Charlotte A Hoogstraaten; Hannah Hugo; Thomas M Kitzler; Franziska Kause; Caroline M Kolvenbach; Rufeng Dai; Leslie Spaneas; Kassaundra Amann; Deborah R Stein; Michelle A Baum; Michael J G Somers; Nancy M Rodig; Michael A Ferguson; Avram Z Traum; Ghaleb H Daouk; Radovan Bogdanović; Natasa Stajić; Neveen A Soliman; Jameela A Kari; Sherif El Desoky; Hanan M Fathy; Danko Milosevic; Muna Al-Saffar; Hazem S Awad; Loai A Eid; Aravind Selvin; Prabha Senguttuvan; Simone Sanna-Cherchi; Heidi L Rehm; Daniel G MacArthur; Monkol Lek; Kristen M Laricchia; Michael W Wilson; Shrikant M Mane; Richard P Lifton; Richard S Lee; Stuart B Bauer; Weining Lu; Heiko M Reutter; Velibor Tasic; Shirlee Shril; Friedhelm Hildebrandt
Journal:  J Am Soc Nephrol       Date:  2018-08-24       Impact factor: 10.121

6.  Basonuclin 2 has a function in the multiplication of embryonic craniofacial mesenchymal cells and is orthologous to disco proteins.

Authors:  Amandine Vanhoutteghem; Anna Maciejewski-Duval; Cyril Bouche; Brigitte Delhomme; Françoise Hervé; Fabrice Daubigney; Guillaume Soubigou; Masatake Araki; Kimi Araki; Ken-ichi Yamamura; Philippe Djian
Journal:  Proc Natl Acad Sci U S A       Date:  2009-08-12       Impact factor: 11.205

7.  Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract.

Authors:  Leire Madariaga; Alejandro García-Castaño; Gema Ariceta; Rosa Martínez-Salazar; Aníbal Aguayo; Luis Castaño
Journal:  Clin Kidney J       Date:  2018-11-13

8.  An international meta-analysis confirms the association of BNC2 with adolescent idiopathic scoliosis.

Authors:  Yoji Ogura; Kazuki Takeda; Ikuyo Kou; Anas Khanshour; Anna Grauers; Hang Zhou; Gang Liu; Yan-Hui Fan; Taifeng Zhou; Zhihong Wu; Yohei Takahashi; Morio Matsumoto; Elisabet Einarsdottir; Juha Kere; Dongsheng Huang; Guixing Qiu; Leilei Xu; Yong Qiu; Carol A Wise; You-Qiang Song; Nan Wu; Peiqiang Su; Paul Gerdhem; Kota Watanabe; Shiro Ikegawa
Journal:  Sci Rep       Date:  2018-03-16       Impact factor: 4.379

9.  Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.

Authors:  Caroline M Kolvenbach; Gabriel C Dworschak; Sandra Frese; Anna S Japp; Peggy Schuster; Nina Wenzlitschke; Öznur Yilmaz; Filipa M Lopes; Alexey Pryalukhin; Luca Schierbaum; Loes F M van der Zanden; Franziska Kause; Ronen Schneider; Katarzyna Taranta-Janusz; Maria Szczepańska; Krzysztof Pawlaczyk; William G Newman; Glenda M Beaman; Helen M Stuart; Raimondo M Cervellione; Wouter F J Feitz; Iris A L M van Rooij; Michiel F Schreuder; Martijn Steffens; Stefanie Weber; Waltraut M Merz; Markus Feldkötter; Bernd Hoppe; Holger Thiele; Janine Altmüller; Christoph Berg; Glen Kristiansen; Michael Ludwig; Heiko Reutter; Adrian S Woolf; Friedhelm Hildebrandt; Phillip Grote; Marcin Zaniew; Benjamin Odermatt; Alina C Hilger
Journal:  Am J Hum Genet       Date:  2019-05-02       Impact factor: 11.025

Review 10.  Zinc-finger proteins in health and disease.

Authors:  Matteo Cassandri; Artem Smirnov; Flavia Novelli; Consuelo Pitolli; Massimiliano Agostini; Michal Malewicz; Gerry Melino; Giuseppe Raschellà
Journal:  Cell Death Discov       Date:  2017-11-13
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