PMC Links for Nucleotide (Select 1519245054) - PMC

Select item 58236751.

Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype

Rajalakshmi S. Asur, Danielle C. Kimble, Francis P. Lach, Moonjung Jung, Frank X. Donovan, Aparna Kamat, Raymond J. Noonan, James W. Thomas, Morgan Park, Peter Chines, Adrianna Vlachos, Arleen D. Auerbach, Agata Smogorzewska, Settara C. Chandrasekharappa

Mol Genet Genomic Med. 2018 Jan; 6(1): 77–91. Published online 2017 Nov 30. doi: 10.1002/mgg3.350

PMCID:: PMC5823675

Abstract Article PDF–3.1M

Select item 32055642.

Post-transcriptional exon shuffling events in humans can be evolutionarily conserved and abundant

Haya H. Al-Balool, David Weber, Yilei Liu, Mark Wade, Kamlesh Guleria, Pitsien Lang Ping Nam, Jake Clayton, William Rowe, Jonathan Coxhead, Julie Irving, David J. Elliott, Andrew G. Hall, Mauro Santibanez-Koref, Michael S. Jackson

Genome Res. 2011 Nov; 21(11): 1788–1799. doi: 10.1101/gr.116442.110

PMCID:: PMC3205564

Abstract Article PDF–770K

Select item 17159803.

Evidence for at least eight Fanconi anemia genes.

H Joenje, A B Oostra, M Wijker, F M di Summa, C G van Berkel, M A Rooimans, W Ebell, M van Weel, J C Pronk, M Buchwald, F Arwert

Am J Hum Genet. 1997 Oct; 61(4): 940–944. doi: 10.1086/514881

PMCID:: PMC1715980

Summary Page Browse PDF–881K

Select item 69619484.

Mitochondrial DNA variations and mitochondrial dysfunction in Fanconi anemia

Avani Solanki, Aruna Rajendran, Sheila Mohan, Revathy Raj, Babu Rao Vundinti

PLoS One. 2020; 15(1): e0227603. Published online 2020 Jan 15. doi: 10.1371/journal.pone.0227603

PMCID:: PMC6961948

Abstract Article PDF–772K

Select item 52227435.

Primary immunodeficiency diseases – genomic approaches delineate heterogeneous Mendelian disorders

Asbjørg Stray-Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, Tomasz Gambin, Ivan K. Chinn, Zeynep H. Coban Akdemir, Hans Christian Erichsen, Lisa R. Forbes, Shen Gu, Bo Yuan, Shalini N. Jhangiani, Donna M. Muzny, Olaug Kristin Rødningen, Ying Sheng, Sarah K. Nicholas, Lenora M. Noroski, Filiz O. Seeborg, Carla Davis, Debra Canter, Emily M. Mace, Tim Vece, Carl E. Allen, Harshal A. Abhyankar, Phil Boone, Christine R. Beck, Wojciech Krysztof Wiszniewski, Børre Fevang, Pål Aukrust, Geir E Tjønnfjord, Tobias Gedde-Dahl, Henrik Hjorth-Hansen, Ingunn Dybedal, Ingvild Nordøy, Silje F. Jørgensen, Tore G. Abrahamsen, Torstein Øverland, Anne Grete Bechensteen, Vegard Skogen, Liv T. Osnes, Mari Ann Kulseth, Trine E. Prescott, Cecilie F. Rustad, Ketil R. Heimdal, John W. Belmont, Nicholas Rider, Javier Chinen, Tram Cao, Eric Smith, Maria Soledad Caldirola, Liliana Bezrodnik, Saul Oswaldo Lugo Reyes, Francisco J. Espinosa Rosales, Denisse Guerrero, Luis Alberto Pedroza, Cecilia M. Poli, Jose L. Franco, Claudia M. Trujillo Vargas, Juan Carlos Aldave Becerra, Nicola Wright, Thomas B. Issekutz, Andrew C. Issekutz, Jordan Abbott, Jason W. Caldwell, Diana K. Bayer, Alice Y. Chan, Alessandro Aiuti, Caterina Cancrini, Eva Holmberg, Christina West, Magnus Burstedt, Ender Karaca, Gozde Yesil, Hasibe Artac, Yavuz Bayram, Mehmed Musa Atik, Mohammad K. Eldomery, Mohammad S. Ehlayel, Stephen Jolles, Berit Flatø, Alison A. Bertuch, I. Celine Hanson, Victor W. Zhang, Lee-Jun Wong, Jianhong Hu, Magdalena Walkiewicz, Yaping Yang, Christine Eng, Eric Boerwinkle, Richard A. Gibbs, William T. Shearer, Robert Lyle, Jordan S. Orange, James R. Lupski

J Allergy Clin Immunol. Author manuscript; available in PMC 2018 Jan 1.

Published in final edited form as: J Allergy Clin Immunol. 2017 Jan; 139(1): 232–245. Published online 2016 Jul 16. doi: 10.1016/j.jaci.2016.05.042

Correction in:: J Allergy Clin Immunol. 2018 Feb; 141(2): 832.

PMCID:: PMC5222743

Abstract Article PDF–1.3M

Select item 40213936.

Gene expression profiling reveals activation of the FA/BRCA pathway in advanced squamous cervical cancer with intrinsic resistance and therapy failure

Ovidiu Balacescu, Loredana Balacescu, Oana Tudoran, Nicolae Todor, Meda Rus, Rares Buiga, Sergiu Susman, Bogdan Fetica, Laura Pop, Laura Maja, Simona Visan, Claudia Ordeanu, Ioana Berindan-Neagoe, Viorica Nagy

BMC Cancer. 2014; 14: 246. Published online 2014 Apr 8. doi: 10.1186/1471-2407-14-246

PMCID:: PMC4021393

Abstract Article PDF–1.9M

Select item 35834727.

Molecular and genomic approach for understanding the gene-environment interaction between Nrf2 deficiency and carcinogenic nickel-induced DNA damage

HYE LIM KIM, YOUNG ROK SEO

Oncol Rep. 2012 Dec; 28(6): 1959–1967. Published online 2012 Sep 26. doi: 10.3892/or.2012.2057

PMCID:: PMC3583472

Abstract Article PDF–659K

Select item 31496258.

Fanconi Anemia Core Complex Gene Promoters Harbor Conserved Transcription Regulatory Elements

Daniel Meier, Detlev Schindler

PLoS One. 2011; 6(8): e22911. Published online 2011 Aug 3. doi: 10.1371/journal.pone.0022911

PMCID:: PMC3149625

Abstract Article PDF–792K

Select item 24647419.

Programmed Genetic Instability: A Tumor-Permissive Mechanism for Maintaining the Evolvability of Higher Species through Methylation-Dependent Mutation of DNA Repair Genes in the Male Germ Line

Yongzhong Zhao, Richard J. Epstein

Mol Biol Evol. 2008 Aug; 25(8): 1737–1749. Published online 2008 Jun 4. doi: 10.1093/molbev/msn126

PMCID:: PMC2464741

Abstract Article PDF–814K

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