Literature DB >> 34773388

Distinguishing severe phenotypes associated with pathogenic variants in POLR3A.

Stefanie Perrier1,2, Laurence Gauquelin3, Jennifer A Wambach4, Geneviève Bernard1,2,5,6.   

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Year:  2021        PMID： 34773388      PMCID： PMC8758552          DOI： 10.1002/ajmg.a.62553

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  17 in total

1.  Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome.

Authors:  Sehime Gulsun Temel; Mahmut Cerkez Ergoren; Elena Manara; Stefano Paolacci; Gulten Tuncel; Seref Gul; Matteo Bertelli
Journal:  Eur J Hum Genet       Date:  2020-06-18       Impact factor: 4.246

2.  Wiedemann-Rautenstrauch syndrome: A phenotype analysis.

Authors:  Stefano Paolacci; Debora Bertola; José Franco; Shehla Mohammed; Marco Tartaglia; Bernd Wollnik; Raoul C Hennekam
Journal:  Am J Med Genet A       Date:  2017-04-26       Impact factor: 2.802

3.  Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

Authors:  Jennifer A Wambach; Daniel J Wegner; Nivedita Patni; Martin Kircher; Marcia C Willing; Dustin Baldridge; Chao Xing; Anil K Agarwal; Samantha A Schrier Vergano; Chirag Patel; Dorothy K Grange; Amy Kenney; Tasnim Najaf; Deborah A Nickerson; Michael J Bamshad; F Sessions Cole; Abhimanyu Garg
Journal:  Am J Hum Genet       Date:  2018-11-07       Impact factor: 11.025

4.  POLR3A variants in striatal involvement without diffuse hypomyelination.

Authors:  Takuya Hiraide; Kazuo Kubota; Yu Kono; Seiji Watanabe; Tomoko Matsubayashi; Mitsuko Nakashima; Tadashi Kaname; Toshiyuki Fukao; Nobuyuki Shimozawa; Tsutomu Ogata; Hirotomo Saitsu
Journal:  Brain Dev       Date:  2020-01-10       Impact factor: 1.961

5.  Wiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A.

Authors:  Purvi Majethia; Katta Mohan Girisha
Journal:  Am J Med Genet A       Date:  2021-02-08       Impact factor: 2.802

6.  Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.

Authors:  Davor Lessel; Ayse Bilge Ozel; Susan E Campbell; Abdelkrim Saadi; Martin F Arlt; Keisha Melodi McSweeney; Vasilica Plaiasu; Katalin Szakszon; Anna Szőllős; Cristina Rusu; Armando J Rojas; Jaime Lopez-Valdez; Holger Thiele; Peter Nürnberg; Deborah A Nickerson; Michael J Bamshad; Jun Z Li; Christian Kubisch; Thomas W Glover; Leslie B Gordon
Journal:  Hum Genet       Date:  2018-11-19       Impact factor: 4.132

7.  Absence of Lamin A/C gene mutations in four Wiedemann-Rautenstrauch syndrome patients.

Authors:  Luis C Morales; Gonzalo Arboleda; Yeldy Rodríguez; Diego A Forero; Nelson Ramírez; Juan J Yunis; Humberto Arboleda
Journal:  Am J Med Genet A       Date:  2009-12       Impact factor: 2.802

8.  Diffuse hypomyelination is not obligate for POLR3-related disorders.

Authors:  Roberta La Piana; Ferdy K Cayami; Luan T Tran; Kether Guerrero; Rosalina van Spaendonk; Katrin Õunap; Sander Pajusalu; Tobias Haack; Evangeline Wassmer; Dagmar Timmann; Hanna Mierzewska; Bwee T Poll-Thé; Chirag Patel; Helen Cox; Tahir Atik; Huseyin Onay; Ferda Ozkınay; Adeline Vanderver; Marjo S van der Knaap; Nicole I Wolf; Geneviève Bernard
Journal:  Neurology       Date:  2016-03-30       Impact factor: 9.910

9.  Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report.

Authors:  Shuiyan Wu; Zhenjiang Bai; Xingqiang Dong; Daoping Yang; Hongmei Chen; Jun Hua; Libing Zhou; Haitao Lv
Journal:  BMC Pediatr       Date:  2019-08-22       Impact factor: 2.125

10.  POLR3A variants with striatal involvement and extrapyramidal movement disorder.

Authors:  Inga Harting; Murtadha Al-Saady; Ingeborg Krägeloh-Mann; Annette Bley; Maja Hempel; Tatjana Bierhals; Stephanie Karch; Ute Moog; Geneviève Bernard; Richard Huntsman; Rosalina M L van Spaendonk; Maaike Vreeburg; Agustí Rodríguez-Palmero; Aurora Pujol; Marjo S van der Knaap; Petra J W Pouwels; Nicole I Wolf
Journal:  Neurogenetics       Date:  2020-01-15       Impact factor: 2.660
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  1 in total

Review 1.  RNA Polymerases I and III in development and disease.

Authors:  Kristin En Watt; Julia Macintosh; Geneviève Bernard; Paul A Trainor
Journal:  Semin Cell Dev Biol       Date:  2022-04-11       Impact factor: 7.499
  1 in total

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