PMC Links for Nucleotide (Select 1519243346) - PMC

Links from Nucleotide

Items: 1 to 20 of 25

<< First< Prev

Page of 2

Select item 68745251.

Rare variants in FANCA induce premature ovarian insufficiency

Xi Yang, Xiaojin Zhang, Jiao Jiao, Feng Zhang, Yuncheng Pan, Qiqi Wang, Qing Chen, Baozhu Cai, Shuyan Tang, Zixue Zhou, Siyuan Chen, Hao Yin, Wei Fu, Yang Luo, Da Li, Guoqing Li, Lingyue Shang, Jialing Yang, Li Jin, Qinghua Shi, Yanhua Wu

Hum Genet. 2019; 138(11): 1227–1236. Published online 2019 Sep 18. doi: 10.1007/s00439-019-02059-9

PMCID:: PMC6874525

Abstract Article PDF–1.4M

Select item 60979322.

FANCA promotes DNA double strand break repair by catalyzing single-strand annealing and strand exchange

Anaid Benitez, Wenjun Liu, Anna Palovcak, Guanying Wang, Jaewon Moon, Kevin An, Anna Kim, Kevin Zheng, Yu Zhang, Feng Bai, Alexander V. Mazin, Xin-Hai Pei, Fenghua Yuan, Yanbin Zhang

Mol Cell. Author manuscript; available in PMC 2019 Aug 16.

Published in final edited form as: Mol Cell. 2018 Aug 16; 71(4): 621–628.e4. Published online 2018 Jul 26. doi: 10.1016/j.molcel.2018.06.030

PMCID:: PMC6097932

Abstract Article PDF–1.2M

Select item 19147133.

A locus for Fanconi anemia on 16q determined by homozygosity mapping.

M. Gschwend, O. Levran, L. Kruglyak, K. Ranade, P. C. Verlander, S. Shen, S. Faure, J. Weissenbach, C. Altay, E. S. Lander, A. D. Auerbach, D. Botstein

Am J Hum Genet. 1996 Aug; 59(2): 377–384.

PMCID:: PMC1914713

Summary Page Browse PDF–1.2M

Select item 69957334.

Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations

Qiang Lu, Liang Shang, Wo Tu Tian, Li Cao, Xue Zhang, Qing Liu

Ann Transl Med. 2020 Jan; 8(1): 8. doi: 10.21037/atm.2019.11.31

PMCID:: PMC6995733

Abstract Article PDF–1.1M

Select item 69619485.

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 69592126.

Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels

Adela Chirita-Emandi, Nicoleta Andreescu, Cristian G. Zimbru, Paul Tutac, Smaranda Arghirescu, Margit Serban, Maria Puiu

Sci Rep. 2020; 10: 223. Published online 2020 Jan 14. doi: 10.1038/s41598-019-57080-9

PMCID:: PMC6959212

Abstract Article PDF–1.0M

Select item 69014537.

Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels

Supanun Lauhasurayotin, Geoff D. Cuvelier, Robert J. Klaassen, Conrad V. Fernandez, Yves D. Pastore, Sharon Abish, Meera Rayar, MacGregor Steele, Lawrence Jardine, Vicky R. Breakey, Josee Brossard, Roona Sinha, Mariana Silva, Lisa Goodyear, Jeffrey H. Lipton, Bruno Michon, Catherine Corriveau-Bourque, Lillian Sung, Iren Shabanova, Hongbing Li, Bozana Zlateska, Santhosh Dhanraj, Michaela Cada, Stephen W. Scherer, Yigal Dror

NPJ Genom Med. 2019; 4: 30. Published online 2019 Dec 9. doi: 10.1038/s41525-019-0104-9

PMCID:: PMC6901453

Abstract Article PDF–3.3M

Select item 68048648.

Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma

Vasiliki Panou, Meghana Gadiraju, Arthur Wolin, Caroline M. Weipert, Emily Skarda, Aliya N. Husain, Jyoti D. Patel, Buerkley Rose, Shannon R. Zhang, Madison Weatherly, Viswateja Nelakuditi, Amy Knight Johnson, Maria Helgeson, David Fischer, Arpita Desai, Nanna Sulai, Lauren Ritterhouse, Oluf D. Røe, Kiran K. Turaga, Dezheng Huo, Jeremy Segal, Sabah Kadri, Zejuan Li, Hedy L. Kindler, Jane E. Churpek

J Clin Oncol. 2018 Oct 1; 36(28): 2863–2871. Published online 2018 Aug 16. doi: 10.1200/JCO.2018.78.5204

PMCID:: PMC6804864

Abstract Article PDF–709K

Select item 65982839.

Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins

Amira Jaballah-Gabteni, Haifa Tounsi, Maria Kabbage, Yosr Hamdi, Sahar Elouej, Ines Ben Ayed, Mouna Medhioub, Moufida Mahmoudi, Hamza Dallali, Hamza Yaiche, Nadia Ben Jemii, Afifa Maaloul, Najla Mezghani, Sonia Abdelhak, Lamine Hamzaoui, Mousaddak Azzouz, Samir Boubaker

J Transl Med. 2019; 17: 212. Published online 2019 Jun 27. doi: 10.1186/s12967-019-1961-9

PMCID:: PMC6598283

Abstract Article PDF–1.8M

Select item 650087210.

Mutation spectrum of germline cancer susceptibility genes among unselected Chinese colorectal cancer patients

Rui Gong, Yuan He, Xiao-Yun Liu, Hai-Yun Wang, Li-Yue Sun, Xin-Hua Yang, Bin Li, Xin-Kai Cao, Zu-Lu Ye, Ling-Heng Kong, Da-Dong Zhang, Yu-Hong Li, Rui-Hua Xu, Jian-Yong Shao

Cancer Manag Res. 2019; 11: 3721–3739. Published online 2019 Apr 29. doi: 10.2147/CMAR.S193985

PMCID:: PMC6500872

Abstract Article PDF–3.2M

Select item 532576311.

HSP90 shapes the consequences of human genetic variation

Georgios I. Karras, Song Yi, Nidhi Sahni, Máté Fischer, Jenny Xie, Marc Vidal, Alan D. D'Andrea, Luke Whitesell, Susan Lindquist

Cell. Author manuscript; available in PMC 2018 Feb 23.

Published in final edited form as: Cell. 2017 Feb 23; 168(5): 856–866.e12. Published online 2017 Feb 16. doi: 10.1016/j.cell.2017.01.023

PMCID:: PMC5325763

Abstract Article PDF–2.4M

Select item 520972512.

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape

Elisabeth Castellanos, Bernat Gel, Inma Rosas, Eva Tornero, Sheila Santín, Raquel Pluvinet, Juan Velasco, Lauro Sumoy, Jesús del Valle, Manuel Perucho, Ignacio Blanco, Matilde Navarro, Joan Brunet, Marta Pineda, Lidia Feliubadaló, Gabi Capellá, Conxi Lázaro, Eduard Serra

Sci Rep. 2017; 7: 39348. Published online 2017 Jan 4. doi: 10.1038/srep39348

PMCID:: PMC5209725

Abstract Article PDF–2.3M

Select item 514968313.

Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population

Chuphong Thongnak, Pornprot Limprasert, Duangkamol Tangviriyapaiboon, Suchaya Silvilairat, Apichaya Puangpetch, Ekawat Pasomsub, Chonlaphat Sukasem, Wasun Chantratita

Dis Markers. 2016; 2016: 3684965. Published online 2016 Nov 28. doi: 10.1155/2016/3684965

PMCID:: PMC5149683

Abstract Article PDF–1.8M

Select item 431515914.

Characterization of familial breast cancer in Saudi Arabia

Adnan Merdad, Mamdooh A Gari, Shireen Hussein, Shadi Al-Khayat, Hana Tashkandi, Jaudah Al-Maghrabi, Fatma Al-Thubaiti, Ibtessam R Hussein, Taha Koumosani, Nehad Shaer, Adeel G Chaudhary, Adel M Abuzenadah, Mohammed H Al-Qahtani, Ashraf Dallol

BMC Genomics. 2015; 16(Suppl 1): S3. Published online 2015 Jan 15. doi: 10.1186/1471-2164-16-S1-S3

PMCID:: PMC4315159

Abstract Article PDF–404K

Select item 430346315.

Oncogenic mutation profiling in new lung cancer and mesothelioma cell lines

David CL Lam, Susan Y Luo, Wen Deng, Johnny SH Kwan, Jaime Rodriguez-Canales, Annie LM Cheung, Grace HW Cheng, Chi-Ho Lin, Ignacio I Wistuba, Pak C Sham, Thomas SK Wan, Sai-Wah Tsao

Onco Targets Ther. 2015; 8: 195–209. Published online 2015 Jan 16. doi: 10.2147/OTT.S71242

PMCID:: PMC4303463

Abstract Article PDF–4.9M

Select item 430009116.

Influences of Gestational Obesity on Associations between Genotypes and Gene Expression Levels in Offspring following Maternal Gastrointestinal Bypass Surgery for Obesity

Frédéric Guénard, Maxime Lamontagne, Yohan Bossé, Yves Deshaies, Katherine Cianflone, John G. Kral, Picard Marceau, Marie-Claude Vohl

PLoS One. 2015; 10(1): e0117011. Published online 2015 Jan 20. doi: 10.1371/journal.pone.0117011

PMCID:: PMC4300091

Abstract Article PDF–272K

Select item 391959817.

Damage-dependent regulation of MUS81-EME1 by Fanconi anemia complementation group A protein

Anaid Benitez, Fenghua Yuan, Satoshi Nakajima, Leizhen Wei, Liangyue Qian, Richard Myers, Jennifer J. Hu, Li Lan, Yanbin Zhang

Nucleic Acids Res. 2014 Feb; 42(3): 1671–1683. Published online 2013 Oct 28. doi: 10.1093/nar/gkt975

PMCID:: PMC3919598

Abstract Article PDF–5.2M

Select item 385778318.

Human Fanconi Anemia Complementation Group A Protein Stimulates the 5’ Flap Endonuclease Activity of FEN1

Liangyue Qian, Fenghua Yuan, Paola Rodriguez-Tello, Suyog Padgaonkar, Yanbin Zhang

PLoS One. 2013; 8(12): e82666. Published online 2013 Dec 4. doi: 10.1371/journal.pone.0082666

PMCID:: PMC3857783

Abstract Article PDF–1.5M

Select item 328161819.

Fanconi Anemia Complementation Group A (FANCA) Protein Has Intrinsic Affinity for Nucleic Acids with Preference for Single-stranded Forms

Fenghua Yuan, Liangyue Qian, Xinliang Zhao, Jesse Y. Liu, Limin Song, Gennaro D'Urso, Chaitanya Jain, Yanbin Zhang

J Biol Chem. 2012 Feb 10; 287(7): 4800–4807. Published online 2011 Dec 21. doi: 10.1074/jbc.M111.315366

PMCID:: PMC3281618

Abstract Article PDF–1.2M

Select item 314962520.

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

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 1 to 20 of 25

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity