PMC Articles for MedGen (Select 766496) - PMC

Select item 81530081.

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ

Ehtisham Ul Haq Makhdoom, Syeda Seema Waseem, Maria Iqbal, Uzma Abdullah, Ghulam Hussain, Maria Asif, Birgit Budde, Wolfgang Höhne, Sigrid Tinschert, Saadia Maryam Saadi, Hammad Yousaf, Zafar Ali, Ambrin Fatima, Emrah Kaygusuz, Ayaz Khan, Muhammad Jameel, Sheraz Khan, Muhammad Tariq, Iram Anjum, Janine Altmüller, Holger Thiele, Stefan Höning, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain

Genes (Basel) 2021 May; 12(5): 731. Published online 2021 May 13. doi: 10.3390/genes12050731

PMCID:: PMC8153008

Abstract Article PDF–1.6M

Select item 75991552.

Limiting homologous recombination at stalled replication forks is essential for cell viability: DNA2 to the rescue

Rowin Appanah, David Jones, Benoît Falquet, Ulrich Rass

Curr Genet. 2020; 66(6): 1085–1092. Published online 2020 Sep 9. doi: 10.1007/s00294-020-01106-7

PMCID:: PMC7599155

Abstract Article PDF–874K

Select item 44998713.

CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination

Marko Marjanovic, Carlos Sánchez-Huertas, Berta Terré, Rocío Gómez, Jan Frederik Scheel, Sarai Pacheco, Philip A. Knobel, Ana Martínez-Marchal, Suvi Aivio, Lluís Palenzuela, Uwe Wolfrum, Peter J. McKinnon, José A. Suja, Ignasi Roig, Vincenzo Costanzo, Jens Lüders, Travis H. Stracker

Nat Commun. Author manuscript; available in PMC 2016 Jan 9.

Published in final edited form as: Nat Commun. 2015; 6: 7676. Published online 2015 Jul 9. doi: 10.1038/ncomms8676

PMCID:: PMC4499871

Abstract Article PDF–3.4M

Select item 44232234.

C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle

Sandrine Floriot, Christine Vesque, Sabrina Rodriguez, Florence Bourgain-Guglielmetti, Anthi Karaiskou, Mathieu Gautier, Amandine Duchesne, Sarah Barbey, Sébastien Fritz, Alexandre Vasilescu, Maud Bertaud, Mohammed Moudjou, Sophie Halliez, Valérie Cormier-Daire, Joyce E.L. Hokayem, Erich A. Nigg, Luc Manciaux, Raphaël Guatteo, Nora Cesbron, Geraldine Toutirais, André Eggen, Sylvie Schneider-Maunoury, Didier Boichard, Joelle Sobczak-Thépot, Laurent Schibler

Nat Commun. 2015 Apr 23; 6: 6894. Published online 2015 Apr 23. doi: 10.1038/ncomms7894

PMCID:: PMC4423223

Abstract Article PDF–2.8M

Select item 31095105.

Distinctive Phenotype in 9 Patients with Deletion of Chromosome 1q24-q25

Deepika D’Cunha Burkardt, Jill A. Rosenfeld, Maria Helgeson, Brad Angle, Valerie Banks, Wendy Smith, Karen W. Gripp, Jessica Moline, Rocio Moran, Dmitriy M. Niyazov, Cathy Stevens, Elaine Zackai, Robert Roger Lebel, Douglas Ashley, Nancy Kramer, Ralph S. Lachman, John M. Graham, Jr.

Am J Med Genet A. Author manuscript; available in PMC 2012 Jun 1.

Published in final edited form as: Am J Med Genet A. 2011 Jun; 155(6): 1336–1351. Published online 2011 May 5. doi: 10.1002/ajmg.a.34049

PMCID:: PMC3109510

Abstract Article PDF–4.1M

Select item 31021116.

Angelman Syndrome Protein UBE3A Interacts with Primary Microcephaly Protein ASPM, Localizes to Centrosomes and Regulates Chromosome Segregation

Pooja Singhmar, Arun Kumar

PLoS One. 2011; 6(5): e20397. Published online 2011 May 25. doi: 10.1371/journal.pone.0020397

PMCID:: PMC3102111

Abstract Article PDF–808K

Select item 28749987.

ATR contributes to telomere maintenance in human cells

Gaëlle Pennarun, Françoise Hoffschir, Deborah Revaud, Christine Granotier, Laurent R. Gauthier, Patrick Mailliet, Denis S. Biard, François D. Boussin

Nucleic Acids Res. 2010 May; 38(9): 2955–2963. Published online 2010 Feb 10. doi: 10.1093/nar/gkp1248

PMCID:: PMC2874998

Abstract Article PDF–3.1M

Select item 25847138.

ATR kinase is required for global genomic nucleotide excision repair exclusively during S phase in human cells

Yannick Auclair, Raphael Rouget, El Bachir Affar, Elliot A. Drobetsky

Proc Natl Acad Sci U S A. 2008 Nov 18; 105(46): 17896–17901. Published online 2008 Nov 11. doi: 10.1073/pnas.0801585105

PMCID:: PMC2584713

Abstract Article PDF–440K

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