PMC Articles for MedGen (Select 814744) - PMC

Select item 51980081.

A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family

Fatma Dursun, Hussein Sheikh Ali Mohamoud, Noreen Karim, Muhammad Naeem, Musharraf Jelani, Heves Kırmızıbekmez

J Clin Res Pediatr Endocrinol. 2016 Dec; 8(4): 472–477. Published online 2016 Dec 1. doi: 10.4274/jcrpe.2717

PMCID:: PMC5198008

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Select item 61107812.

Perrault syndrome type 3 caused by diverse molecular defects in CLPP

Erica J. Brodie, Hanmiao Zhan, Tamanna Saiyed, Kaye N. Truscott, David A. Dougan

Sci Rep. 2018; 8: 12862. Published online 2018 Aug 27. doi: 10.1038/s41598-018-30311-1

PMCID:: PMC6110781

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Select item 86285733.

A Rare Case of Perrault Syndrome with Auditory Neuropathy Spectrum Disorder: Cochlear Implantation Treatment and Literature Review

Francesca Forli, Luca Bruschini, Beatrice Franciosi, Roberta Battini, Gemma Marinella, Stefano Berrettini, Francesco Lazzerini

Audiol Res. 2021 Dec; 11(4): 609–617. Published online 2021 Nov 13. doi: 10.3390/audiolres11040055

PMCID:: PMC8628573

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Select item 84262494.

Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse

Antonia Maletzko, Jana Key, Ilka Wittig, Suzana Gispert, Gabriele Koepf, Júlia Canet-Pons, Sylvia Torres-Odio, A. Phillip West, Georg Auburger

Neurogenetics. 2021; 22(4): 297–312. Published online 2021 Aug 3. doi: 10.1007/s10048-021-00657-2

PMCID:: PMC8426249

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Select item 51105155.

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

Tom E. J. Theunissen, Radek Szklarczyk, Mike Gerards, Debby M. E. I. Hellebrekers, Elvira N. M. Mulder-Den Hartog, Jo Vanoevelen, Rick Kamps, Bart de Koning, S. Lane Rutledge, Thomas Schmitt-Mechelke, Carola G. M. van Berkel, Marjo S. van der Knaap, Irenaeus F. M. de Coo, Hubert J. M. Smeets

Front Neurol. 2016; 7: 203. Published online 2016 Nov 16. doi: 10.3389/fneur.2016.00203

PMCID:: PMC5110515

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Select item 80267076.

Loss of Mitochondrial Protease CLPP Activates Type I IFN Responses through the Mitochondrial DNA–cGAS–STING Signaling Axis

Sylvia Torres-Odio, Yuanjiu Lei, Suzana Gispert, Antonia Maletzko, Jana Key, Saeed S. Menissy, Ilka Wittig, Georg Auburger, A. Phillip West

J Immunol. Author manuscript; available in PMC 2022 Apr 15.

Published in final edited form as: J Immunol. 2021 Apr 15; 206(8): 1890–1900. Published online 2021 Mar 17. doi: 10.4049/jimmunol.2001016

PMCID:: PMC8026707

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Select item 75001287.

A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families

Leigh A. M. Demain, Erica. H. Gerkes, Richard J. H. Smith, Leslie P. Molina-Ramirez, Raymond T. O’Keefe, William G. Newman

J Hum Genet. 2020; 65(3): 305–311. Published online 2019 Dec 12. doi: 10.1038/s10038-019-0706-1

PMCID:: PMC7500128

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Select item 72832038.

Loss of mitochondrial ClpP, Lonp1, and Tfam triggers transcriptional induction of Rnf213, a susceptibility factor for moyamoya disease

Jana Key, Antonia Maletzko, Aneesha Kohli, Suzana Gispert, Sylvia Torres-Odio, Ilka Wittig, Juliana Heidler, Clea Bárcena, Carlos López-Otín, Yuanjiu Lei, A. Phillip West, Christian Münch, Georg Auburger

Neurogenetics. 2020; 21(3): 187–203. Published online 2020 Apr 28. doi: 10.1007/s10048-020-00609-2

PMCID:: PMC7283203

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Select item 71106549.

Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report

Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Yuhei Kanaya, Yui Tada, Takashi Kurashige, Hideshi Kawakami

BMC Med Genet. 2020; 21: 68. Published online 2020 Mar 31. doi: 10.1186/s12881-020-01002-4

PMCID:: PMC7110654

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Select item 638908110.

Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness

Mun Young Chang, Chung Lee, Jin Hee Han, Min Young Kim, Hye-Rim Park, Nayoung Kim, Woong-Yang Park, Doo Yi Oh, Byung Yoon Choi

BMC Med Genet. 2018; 19: 29. Published online 2018 Feb 27. doi: 10.1186/s12881-018-0541-9

PMCID:: PMC6389081

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Select item 573593611.

Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes

K. Sigvard Olsson, Olof Wålinder, Ulf Jansson, Maria Wilbe, Marie-Louise Bondeson, Eva-Lena Stattin, Ruma Raha-Chowdhury, Roger Williams

Hereditas. 2017; 154: 16. Published online 2017 Dec 19. doi: 10.1186/s41065-017-0052-2

PMCID:: PMC5735936

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Select item 529968412.

Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome

Monika Ołdak, Dominika Oziębło, Agnieszka Pollak, Iwona Stępniak, Michal Lazniewski, Urszula Lechowicz, Krzysztof Kochanek, Mariusz Furmanek, Grażyna Tacikowska, Dariusz Plewczynski, Tomasz Wolak, Rafał Płoski, Henryk Skarżyński

J Transl Med. 2017; 15: 25. Published online 2017 Feb 8. doi: 10.1186/s12967-017-1129-4

PMCID:: PMC5299684

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Select item 513651513.

Unresolved questions regarding human hereditary deafness

AU Rehman, TB Friedman, AJ Griffith

Oral Dis. Author manuscript; available in PMC 2018 Jul 1.

Published in final edited form as: Oral Dis. 2017 Jul; 23(5): 551–558. Published online 2016 Jul 11. doi: 10.1111/odi.12516

PMCID:: PMC5136515

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Select item 481721814.

First Independent Replication of the Involvement of LARS2 in Perrault Syndrome by Whole-Exome Sequencing of an Italian Family

Giulia Soldà, Sonia Caccia, Michela Robusto, Chiara Chiereghin, Pierangela Castorina, Umberto Ambrosetti, Stefano Duga, Rosanna Asselta

J Hum Genet. Author manuscript; available in PMC 2016 Sep 22.

Published in final edited form as: J Hum Genet. 2016 Apr; 61(4): 295–300. Published online 2015 Dec 10. doi: 10.1038/jhg.2015.149

PMCID:: PMC4817218

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Select item 449385415.

Spectrum of combined respiratory chain defects

Johannes A. Mayr, Tobias B. Haack, Peter Freisinger, Daniela Karall, Christine Makowski, Johannes Koch, René G. Feichtinger, Franz A. Zimmermann, Boris Rolinski, Uwe Ahting, Thomas Meitinger, Holger Prokisch, Wolfgang Sperl

J Inherit Metab Dis. 2015; 38(4): 629–640. Published online 2015 Mar 17. doi: 10.1007/s10545-015-9831-y

PMCID:: PMC4493854

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Select item 424845116.

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

Hiroyuki Morino, Sarah B. Pierce, Yukiko Matsuda, Tom Walsh, Ryosuke Ohsawa, Marta Newby, Keiko Hiraki-Kamon, Masahito Kuramochi, Ming K. Lee, Rachel E. Klevit, Alan Martin, Hirofumi Maruyama, Mary-Claire King, Hideshi Kawakami

Neurology. 2014 Nov 25; 83(22): 2054–2061. doi: 10.1212/WNL.0000000000001036

PMCID:: PMC4248451

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Select item 361738117.

Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

Emma M. Jenkinson, Atteeq U. Rehman, Tom Walsh, Jill Clayton-Smith, Kwanghyuk Lee, Robert J. Morell, Meghan C. Drummond, Shaheen N. Khan, Muhammad Asif Naeem, Bushra Rauf, Neil Billington, Julie M. Schultz, Jill E. Urquhart, Ming K. Lee, Andrew Berry, Neil A. Hanley, Sarju Mehta, Deirdre Cilliers, Peter E. Clayton, Helen Kingston, Miriam J. Smith, Thomas T. Warner, University of Washington Center for Mendelian Genomics, Graeme C. Black, Dorothy Trump, Julian R.E. Davis, Wasim Ahmad, Suzanne M. Leal, Sheikh Riazuddin, Mary-Claire King, Thomas B. Friedman, William G. Newman

Am J Hum Genet. 2013 Apr 4; 92(4): 605–613. doi: 10.1016/j.ajhg.2013.02.013

PMCID:: PMC3617381

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Select item 318883418.

XX Ovarian Dysgenesis Is Caused by a PSMC3IP/HOP2 Mutation that Abolishes Coactivation of Estrogen-Driven Transcription

David Zangen, Yotam Kaufman, Sharon Zeligson, Shira Perlberg, Hila Fridman, Moein Kanaan, Maha Abdulhadi-Atwan, Abdulsalam Abu Libdeh, Ayal Gussow, Irit Kisslov, Liran Carmel, Paul Renbaum, Ephrat Levy-Lahad

Am J Hum Genet. 2011 Oct 7; 89(4): 572–579. doi: 10.1016/j.ajhg.2011.09.006

PMCID:: PMC3188834

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