PMC Articles for MedGen (Select 341845) - PMC

Select item 75495711.

A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family

Afrooz Sepahvand, Ehsan Razmara, Fatemeh Bitarafan, Mohammad Galehdari, Ali Reza Tavasoli, Navid Almadani, Masoud Garshasbi

Mol Genet Genomic Med. 2020 Oct; 8(10): e1413. Published online 2020 Jul 22. doi: 10.1002/mgg3.1413

PMCID:: PMC7549571

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Select item 31590982.

Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia

Yasmin Namavar, Peter G Barth, Bwee Tien Poll-The, Frank Baas

Orphanet J Rare Dis. 2011; 6: 50. Published online 2011 Jul 12. doi: 10.1186/1750-1172-6-50

PMCID:: PMC3159098

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Select item 31100573.

TSEN54 mutations cause pontocerebellar hypoplasia type 5

Yasmin Namavar, David Chitayat, Peter G Barth, Fred van Ruissen, Marit B de Wissel, Bwee Tien Poll-The, Rachel Silver, Frank Baas

Eur J Hum Genet. 2011 Jun; 19(6): 724–726. Published online 2011 Feb 2. doi: 10.1038/ejhg.2011.8

PMCID:: PMC3110057

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Select item 3485384.

Introduction of transposon Tn901 into a plasmid of Anacystis nidulans: preparation for cloning in cyanobacteria.

C A van den Hondel, S Verbeek, A van der Ende, P J Weisbeek, W E Borrias, G A van Arkel

Proc Natl Acad Sci U S A. 1980 Mar; 77(3): 1570–1574. doi: 10.1073/pnas.77.3.1570

PMCID:: PMC348538

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Select item 34564285.

Optical Constants of Two Typical Liquid Crystals 5CB and PCH5 in the THz Frequency Range

R.-P. Pan, T.-R. Tsai, C.-Y. Chen, C.-L. Pan

J Biol Phys. 2003 Jun; 29(2-3): 335–338. doi: 10.1023/A:1024485918938

PMCID:: PMC3456428

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Select item 104935136.

The PARN, TOE1, and USB1 RNA deadenylases and their roles in non-coding RNA regulation

Thao Ngoc Huynh, Roy Parker

J Biol Chem. 2023 Sep; 299(9): 105139. Published online 2023 Aug 6. doi: 10.1016/j.jbc.2023.105139

PMCID:: PMC10493513

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Select item 102832897.

A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia

Romain Nicolle, Nami Altin, Karine Siquier-Pernet, Sherlina Salignac, Pierre Blanc, Arnold Munnich, Christine Bole-Feysot, Valérie Malan, Barthélémy Caron, Patrick Nitschké, Isabelle Desguerre, Nathalie Boddaert, Marlène Rio, Antonio Rausell, Vincent Cantagrel

BMC Med Genomics. 2023; 16: 143. Published online 2023 Jun 21. doi: 10.1186/s12920-023-01582-z

PMCID:: PMC10283289

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Select item 99908228.

Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia

Puneeth H. Somashekar, Parneet Kaur, Joshi Stephen, Vishal Singh Guleria, Rajagopal Kadavigere, Katta Mohan Girisha, Stephanie Bielas, Priyanka Upadhyai, Anju Shukla

Clin Genet. Author manuscript; available in PMC 2023 Mar 7.

Published in final edited form as: Clin Genet. 2021 Apr; 99(4): 594–600. Published online 2021 Jan 28. doi: 10.1111/cge.13928

PMCID:: PMC9990822

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Select item 89589129.

Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease

Swetha Ramadesikan, Scott Hickey, Emily De Los Reyes, Anup D. Patel, Samuel J. Franklin, Patrick Brennan, Erin Crist, Kristy Lee, Peter White, Kim L. McBride, Daniel C. Koboldt, Richard K. Wilson

Cold Spring Harb Mol Case Stud. 2022 Feb; 8(2): a006165. doi: 10.1101/mcs.a006165

PMCID:: PMC8958912

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Select item 632681110.

TOE1 acts as a 3′ exonuclease for telomerase RNA and regulates telomere maintenance

Tingting Deng, Yan Huang, Kai Weng, Song Lin, Yujing Li, Guang Shi, Yali Chen, Junjiu Huang, Dan Liu, Wenbin Ma, Zhou Songyang

Nucleic Acids Res. 2019 Jan 10; 47(1): 391–405. Published online 2018 Oct 29. doi: 10.1093/nar/gky1019

PMCID:: PMC6326811

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Select item 613318611.

A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia

Tessa van Dijk, Jan-Dirk Vermeij, Silvana van Koningsbruggen, Phillis Lakeman, Frank Baas, Bwee Tien Poll-The

J Inherit Metab Dis. 2018; 41(5): 897–898. Published online 2018 Feb 20. doi: 10.1007/s10545-018-0151-x

PMCID:: PMC6133186

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Select item 594577512.

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9

Fanny Kortüm, Rami Abou Jamra, Malik Alawi, Susan A. Berry, Guntram Borck, Katherine L. Helbig, Sha Tang, Dagmar Huhle, Georg Christoph Korenke, Malavika Hebbar, Anju Shukla, Katta M. Girisha, Maja Steinlin, Sandra Waldmeier-Wilhelm, Martino Montomoli, Renzo Guerrini, Johannes R. Lemke, Kerstin Kutsche

Eur J Hum Genet. 2018 May; 26(5): 695–708. Published online 2018 Feb 20. doi: 10.1038/s41431-018-0098-2

PMCID:: PMC5945775

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Select item 553760013.

A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings

Zejuan Li, Rhonda Schonberg, Lucia Guidugli, Amy Knight Johnson, Stephen Arnovitz, Sandra Yang, Joseph Scafidi, Marshall L Summar, Gilbert Vezina, Soma Das, Kimberly Chapman, Daniela del Gaudio

J Hum Genet. Author manuscript; available in PMC 2017 Aug 1.

Published in final edited form as: J Hum Genet. 2015 Jul; 60(7): 363–369. Published online 2015 Mar 26. doi: 10.1038/jhg.2015.31

PMCID:: PMC5537600

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Select item 544525714.

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Radha Desai, Ann E. Frazier, Romina Durigon, Harshil Patel, Aleck W. Jones, Ilaria Dalla Rosa, Nicole J. Lake, Alison G. Compton, Hayley S. Mountford, Elena J. Tucker, Alice L. R. Mitchell, Deborah Jackson, Abdul Sesay, Miriam Di Re, Lambert P. van den Heuvel, Derek Burke, David Francis, Sebastian Lunke, George McGillivray, Simone Mandelstam, Fanny Mochel, Boris Keren, Claude Jardel, Anne M. Turner, P. Ian Andrews, Jan Smeitink, Johannes N. Spelbrink, Simon J. Heales, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki, Anne Lombès, Ian J. Holt, David R. Thorburn, Antonella Spinazzola

Brain. 2017 Jun; 140(6): 1595–1610. Published online 2017 May 24. doi: 10.1093/brain/awx094

PMCID:: PMC5445257

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Select item 522350415.

Insight into the RNA Exosome Complex Through Modeling Pontocerebellar Hypoplasia Type 1b Disease Mutations in Yeast

Milo B. Fasken, Jillian S. Losh, Sara W. Leung, Sergine Brutus, Brittany Avin, Jillian C. Vaught, Jennifer Potter-Birriel, Taylor Craig, Graeme L. Conn, Katherine Mills-Lujan, Anita H. Corbett, Ambro van Hoof

Genetics. 2017 Jan; 205(1): 221–237. Published online 2016 Oct 24. doi: 10.1534/genetics.116.195917

PMCID:: PMC5223504

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Select item 486475316.

RARS2 mutations in a sibship with infantile spasms

Adeline Ngoh, Jose Bras, Rita Guerreiro, Esther Meyer, Amy McTague, Eleanor Dawson, Kshitij Mankad, Roxana Gunny, Peter Clayton, Philippa B. Mills, Rachel Thornton, Ming Lai, Robert Forsyth, Manju A. Kurian

Epilepsia. 2016 May; 57(5): e97–e102. Published online 2016 Apr 8. doi: 10.1111/epi.13358

PMCID:: PMC4864753

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Select item 401956217.

Natural course of pontocerebellar hypoplasia type 2A

Iciar Sánchez-Albisua, Saskia Frölich, Peter G Barth, Maja Steinlin, Ingeborg Krägeloh-Mann

Orphanet J Rare Dis. 2014; 9: 70. Published online 2014 May 5. doi: 10.1186/1750-1172-9-70

PMCID:: PMC4019562

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Select item 359005518.

Pontocerebellar hypoplasia type 1: Clinical spectrum and relevance of EXOSC3 mutations

Sabine Rudnik-Schöneborn, Jan Senderek, Joanna C. Jen, Gunnar Houge, Pavel Seeman, Alena Puchmajerová, Luitgard Graul-Neumann, Ulrich Seidel, Rudolf Korinthenberg, Janbernd Kirschner, Jürgen Seeger, Monique M. Ryan, Francesco Muntoni, Maja Steinlin, Laszlo Sztriha, Jaume Colomer, Christoph Hübner, Knut Brockmann, Lionel Van Maldergem, Manuel Schiff, Andreas Holzinger, Peter Barth, William Reardon, Michael Yourshaw, Stanley F. Nelson, Thomas Eggermann, Klaus Zerres

Neurology. 2013 Jan 29; 80(5): 438–446. doi: 10.1212/WNL.0b013e31827f0f66

PMCID:: PMC3590055

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Select item 293136019.

MOLECULAR AND NEUROIMAGING FINDINGS IN PONTOCEREBELLAR HYPOPLASIA TYPE 2 (PCH2): IS PRENATAL DIAGNOSIS POSSIBLE?

John M. Graham, Jr., Andrew H. Spencer, Inessa Grinberg, Charles E. Niesen, Lawrence D. Platt, Marcel Maya, Yasmin Namavar, Frank Baas, William B. Dobyns

Am J Med Genet A. Author manuscript; available in PMC 2011 Sep 1.

Published in final edited form as: Am J Med Genet A. 2010 Sep; 152A(9): 2268–2276. doi: 10.1002/ajmg.a.33579

PMCID:: PMC2931360

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