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Items: 1 to 20 of 58

1.
Pontocerebellar hypoplasia type 1 with a milder phenotype in a two-year-old girl
Puneet Jain, Suvasini Sharma, Atin Kumar, Satinder Aneja
J Pediatr Neurosci. 2014 Jan-Apr; 9(1): 70–72. doi: 10.4103/1817-1745.131494
PMCID:
PMC4040042
AbstractArticle
2.
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations
Veerle RC Eggens, Peter G Barth, Jikke-Mien F Niermeijer, Jonathan N Berg, Niklas Darin, Abhijit Dixit, Joel Fluss, Nicola Foulds, Darren Fowler, Tibor Hortobágyi, Thomas Jacques, Mary D King, Periklis Makrythanasis, Adrienn Máté, James AR Nicoll, Declan O’Rourke, Sue Price, Andrew N Williams, Louise Wilson, Mohnish Suri, Laszlo Sztriha, Marit B Dijns-de Wissel, Mia T van Meegen, Fred van Ruissen, Eleonora Aronica, Dirk Troost, Charles BLM Majoie, Henk A Marquering, Bwee Tien Poll-Thé, Frank Baas
Orphanet J Rare Dis. 2014; 9: 23. Published online 2014 Feb 13. doi: 10.1186/1750-1172-9-23
PMCID:
PMC3928094
AbstractArticlePDF–1.0M
3.
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
AbstractArticlePDF–574K
4.
PCH1 and PCHL Directly Interact with PIF1, Promote Its Degradation, and Inhibit Its Transcriptional Function during Photomorphogenesis
Mei-Chun Cheng, Beatrix Enderle, Praveen Kumar Kathare, Rafya Islam, Andreas Hiltbrunner, Enamul Huq
Mol Plant. Author manuscript; available in PMC 2021 Mar 2.
Published in final edited form as: Mol Plant. 2020 Mar 2; 13(3): 499–514. Published online 2020 Feb 13. doi: 10.1016/j.molp.2020.02.003
PMCID:
PMC7167218
AbstractArticlePDF–2.1M
5.
The eyespot resistance genes Pch1 and Pch2 of wheat are not homoeoloci
M. Pasquariello, J. Ham, C. Burt, J. Jahier, S. Paillard, C. Uauy, P. Nicholson
Theor Appl Genet. 2017; 130(1): 91–107. Published online 2016 Sep 24. doi: 10.1007/s00122-016-2796-x
PMCID:
PMC5214848
AbstractArticlePDF–1.4M
6.
Data on the identification of protein interactors with the Evening Complex and PCH1 in Arabidopsis using tandem affinity purification and mass spectrometry (TAP–MS)
He Huang, Sophie Alvarez, Dmitri A. Nusinow
Data Brief. 2016 Sep; 8: 56–60. Published online 2016 May 14. doi: 10.1016/j.dib.2016.05.014
PMCID:
PMC4885145
AbstractArticlePDF–387K
7.
PCH1 and PCHL promote photomorphogenesis in plants by controlling phytochrome B dark reversion
Beatrix Enderle, David J. Sheerin, Inyup Paik, Praveen Kumar Kathare, Philipp Schwenk, Cornelia Klose, Maximilian H. Ulbrich, Enamul Huq, Andreas Hiltbrunner
Nat Commun. 2017; 8: 2221. Published online 2017 Dec 20. doi: 10.1038/s41467-017-02311-8
PMCID:
PMC5738371
AbstractArticlePDF–2.6M
8.
PCH1 integrates circadian and light-signaling pathways to control photoperiod-responsive growth in Arabidopsis
He Huang, Chan Yul Yoo, Rebecca Bindbeutel, Jessica Goldsworthy, Allison Tielking, Sophie Alvarez, Michael J Naldrett, Bradley S Evans, Meng Chen, Dmitri A Nusinow
eLife. 2016; 5: e13292. Published online 2016 Feb 3. doi: 10.7554/eLife.13292
PMCID:
PMC4755757
AbstractArticlePDF–3.5M
9.
De Novo Variant in KIF26B isAssociated with Pontocerebellar Hypoplasia with Infantile Spinal Muscular Atrophy
Monica H. Wojcik, Kyoko Okada, Sanjay P. Prabhu, Dan W. Nowakowski, Keri Ramsey, Chris Balak, Sampath Rangasamy, Catherine A. Brownstein, Klaus Schmitz-Abe, Julie S Cohen, Ali Fatemi, Jiahai Shi, Ellen P. Grant, Vinodh Narayanan, Hsin-Yi Henry Ho, Pankaj B. Agrawal
Am J Med Genet A. Author manuscript; available in PMC 2019 Dec 1.
Published in final edited form as: Am J Med Genet A. 2018 Dec; 176(12): 2623–2629. Published online 2018 Aug 27. doi: 10.1002/ajmg.a.40493
PMCID:
PMC6481602
AbstractArticlePDF–665K
10.
PCH1 regulates light, temperature, and circadian signaling as a structural component of phytochrome B-photobodies in Arabidopsis
He Huang, Katrice E. McLoughlin, Maria L. Sorkin, E. Sethe Burgie, Rebecca K. Bindbeutel, Richard D. Vierstra, Dmitri A. Nusinow
Proc Natl Acad Sci U S A. 2019 Apr 23; 116(17): 8603–8608. Published online 2019 Apr 4. doi: 10.1073/pnas.1818217116
PMCID:
PMC6486730
AbstractArticlePDF–1.2M
11.
Yield reduction historically associated with the Aegilops ventricosa 7DV introgression is genetically and physically distinct from the eyespot resistance gene Pch1
Marianna Pasquariello, Simon Berry, Christopher Burt, Cristobal Uauy, Paul Nicholson
Theor Appl Genet. 2020; 133(3): 707–717. Published online 2019 Dec 13. doi: 10.1007/s00122-019-03502-1
PMCID:
PMC7021663
AbstractArticlePDF–2.1M
12.
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)
Ana Töpf, Angela Pyle, Helen Griffin, Leslie Matalonga, Katherine Schon, Solve-RD SNV-indel working group, Solve-RD DITF-euroNMD, Albert Sickmann, Ulrike Schara–Schmidt, Andreas Hentschel, Patrick F. Chinnery, Heike Kölbel, Andreas Roos, Rita Horvath
Eur J Hum Genet. 2021 Sep; 29(9): 1348–1353. Published online 2021 Jun 1. doi: 10.1038/s41431-021-00851-8
PMCID:
PMC8440675
AbstractArticlePDF–1.4M
13.
Recruitment of P-TEFb (Cdk9-Pch1) to chromatin by the cap-methyl transferase Pcm1 in fission yeast
Allan Guiguen, Julie Soutourina, Monique Dewez, Lionel Tafforeau, Marc Dieu, Martine Raes, Jean Vandenhaute, Michel Werner, Damien Hermand
EMBO J. 2007 Mar 21; 26(6): 1552–1559. Published online 2007 Mar 1. doi: 10.1038/sj.emboj.7601627
PMCID:
PMC1829387
AbstractArticlePDF–233K
14.
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
Jijun Wan, Michael Yourshaw, Hafsa Mamsa, Sabine Rudnik-Schöneborn, Manoj P. Menezes, Ji Eun Hong, Derek W. Leong, Jan Senderek, Michael S. Salman, David Chitayat, Pavel Seeman, Arpad von Moers, Luitgard Graul-Neumann, Andrew J. Kornberg, Manuel Castro-Gago, María-Jesús Sobrido, Masafumi Sanefuji, Perry B. Shieh, Noriko Salamon, Ronald C. Kim, Harry V. Vinters, Zugen Chen, Klaus Zerres, Monique M. Ryan, Stanley F. Nelson, Joanna C. Jen
Nat Genet. Author manuscript; available in PMC 2012 Dec 1.
Published in final edited form as: Nat Genet. 2012 Jun; 44(6): 704–708. Published online 2012 Apr 29. doi: 10.1038/ng.2254
PMCID:
PMC3366034
AbstractArticlePDF–1.7M
15.
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia
Yasmin Namavar, Peter G. Barth, Paul R. Kasher, Fred van Ruissen, Knut Brockmann, Günther Bernert, Karin Writzl, Karen Ventura, Edith Y. Cheng, Donna M. Ferriero, Lina Basel-Vanagaite, Veerle R. C. Eggens, Ingeborg Krägeloh-Mann, Linda De Meirleir, Mary King, John M. Graham, Jr, Arpad von Moers, Nine Knoers, Laszlo Sztriha, Rudolf Korinthenberg, PCH Consortium, William B. Dobyns, Frank Baas, Bwee Tien Poll-The
Brain. 2011 Jan; 134(1): 143–156. Published online 2010 Oct 15. doi: 10.1093/brain/awq287
PMCID:
PMC9136852
AbstractArticlePDF–391K
16.
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy
Ruth Sheffer, Michal Gur, Rebecca Brooks, Somaya Salah, Muhannad Daana, Nitay Fraenkel, Eli Eisenstein, Malcolm Rabie, Yoram Nevo, Chaim Jalas, Orly Elpeleg, Shimon Edvardson, Tamar Harel
Eur J Hum Genet. 2019 Sep; 27(9): 1419–1426. Published online 2019 Apr 11. doi: 10.1038/s41431-019-0400-y
PMCID:
PMC6777529
AbstractArticlePDF–1015K
17.
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
AbstractArticlePDF–858K
18.
Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene
Paul Renbaum, Efrat Kellerman, Ranit Jaron, Dan Geiger, Reeval Segel, Ming Lee, Mary Claire King, Ephrat Levy-Lahad
Am J Hum Genet. 2009 Aug 14; 85(2): 281–289. doi: 10.1016/j.ajhg.2009.07.006
PMCID:
PMC2725266
AbstractArticlePDF–1.3M
19.
Optimal conditions for genetic transformation of the cyanobacterium Anacystis nidulans R2.
S S Golden, L A Sherman
J Bacteriol. 1984 Apr; 158(1): 36–42. doi: 10.1128/jb.158.1.36-42.1984
PMCID:
PMC215375
SummaryPage BrowsePDF–1.3M
20.
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
Lydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, Mathieu Milh, Renaud Touraine, Ginevra Zanni, Florence Petit, Alexandra Afenjar, Cyril Goizet, Sabina Barresi, Aurélie Coussement, Christine Ioos, Leila Lazaro, Sylvie Joriot, Isabelle Desguerre, Didier Lacombe, Vincent des Portes, Enrico Bertini, Jean-Pierre Siffroi, Thierry Billette de Villemeur, Diana Rodriguez
Orphanet J Rare Dis. 2012; 7: 18. Published online 2012 Mar 27. doi: 10.1186/1750-1172-7-18
PMCID:
PMC3351739
AbstractArticlePDF–1.4M

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