Literature DB >> 29671881

A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects.

L A M Demain1,2, D Antunes3, J O'Sullivan1,2, S S Bhaskhar1,2, R T O'Keefe4, W G Newman1,2.   

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Year:  2018        PMID： 29671881     DOI： 10.1111/cge.13255

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  4 in total

Review 1.  Mitochondrial Dysfunction in Primary Ovarian Insufficiency.

Authors:  Dov Tiosano; Jason A Mears; David A Buchner
Journal:  Endocrinology       Date:  2019-10-01       Impact factor: 4.736

Review 2.  The Bacterial ClpXP-ClpB Family Is Enriched with RNA-Binding Protein Complexes.

Authors:  Georg Auburger; Jana Key; Suzana Gispert
Journal:  Cells       Date:  2022-08-02       Impact factor: 7.666

Review 3.  New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.

Authors:  Rabia Faridi; Alessandro Rea; Cristina Fenollar-Ferrer; Raymond T O'Keefe; Shoujun Gu; Zunaira Munir; Asma Ali Khan; Sheikh Riazuddin; Michael Hoa; Sadaf Naz; William G Newman; Thomas B Friedman
Journal:  Hum Genet       Date:  2021-08-02       Impact factor: 4.132

4.  Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement.

Authors:  Dominika Oziębło; Joanna Pazik; Iwona Stępniak; Henryk Skarżyński; Monika Ołdak
Journal:  Genes (Basel)       Date:  2020-09-08       Impact factor: 4.096
  4 in total

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