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Select item 108752691.

FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia

Ramanagouda Ramanagoudr-Bhojappa, Rebecca Tryon, Francis P. Lach, Frank X. Donovan, Rochelle Maxwell, Allana Rosenberg, Margaret L. MacMillan, John E. Wagner, Arleen D. Auerbach, Agata Smogorzewska, Settara C. Chandrasekharappa

Blood Adv. 2024 Feb 27; 8(4): 899–908. Published online 2024 Jan 10. doi: 10.1182/bloodadvances.2023011888

PMCID:: PMC10875269

Article PDF–1.2M

Select item 94254382.

Mutated FANCA Gene Role in the Modulation of Energy Metabolism and Mitochondrial Dynamics in Head and Neck Squamous Cell Carcinoma

Nadia Bertola, Paolo Degan, Enrico Cappelli, Silvia Ravera

Cells. 2022 Aug; 11(15): 2353. Published online 2022 Jul 30. doi: 10.3390/cells11152353

PMCID:: PMC9425438

Article PDF–1.9M

Select item 92954923.

Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia

Anna Repczynska, Katarzyna Julga, Jolanta Skalska-Sadowska, Magdalena M. Kacprzak, Alicja Bartoszewska-Kubiak, Ewelina Lazarczyk, Damian Loska, Malgorzata Drozniewska, Kamila Czerska, Jacek Wachowiak, Olga Haus

Orphanet J Rare Dis. 2022; 17: 282. Published online 2022 Jul 19. doi: 10.1186/s13023-022-02424-4

PMCID:: PMC9295492

Article PDF–1.5M

Select item 77844904.

Esophageal cancer as initial presentation of Fanconi anemia in patients with a hypomorphic FANCA variant

Francis P. Lach, Sonia Singh, Kimberly A. Rickman, Penelope D. Ruiz, Raymond J. Noonan, Kenneth B. Hymes, Mark D. DeLacure, Jennifer A. Kennedy, Settara C. Chandrasekharappa, Agata Smogorzewska

Cold Spring Harb Mol Case Stud. 2020 Dec; 6(6): a005595. doi: 10.1101/mcs.a005595

PMCID:: PMC7784490

Article PDF–3.0M

Select item 68745255.

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

Article PDF–1.4M

Select item 58303976.

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia

Roberta Bottega, Elena Nicchia, Enrico Cappelli, Silvia Ravera, Daniela De Rocco, Michela Faleschini, Fabio Corsolini, Filomena Pierri, Michaela Calvillo, Giovanna Russo, Gabriella Casazza, Ugo Ramenghi, Piero Farruggia, Carlo Dufour, Anna Savoia

Haematologica. 2018 Mar; 103(3): 417–426. Prepublished online 2017 Dec 21. doi: 10.3324/haematol.2017.176131

PMCID:: PMC5830397

Article PDF–1.1M

Select item 55931597.

A germline FANCA alteration that is associated with increased sensitivity to DNA damaging agents

David C. Wilkes, Verena Sailer, Hui Xue, Hongwei Cheng, Colin C. Collins, Martin Gleave, Yuzhuo Wang, Francesca Demichelis, Himisha Beltran, Mark A. Rubin, David S. Rickman

Cold Spring Harb Mol Case Stud. 2017 Sep; 3(5): a001487. doi: 10.1101/mcs.a001487

PMCID:: PMC5593159

Article PDF–4.9M

Select item 54361598.

A rare FANCA gene variation as a breast cancer susceptibility allele in an Iranian population

Sakineh Abbasi, Mina Rasouli

Mol Med Rep. 2017 Jun; 15(6): 3983–3988. Published online 2017 Apr 20. doi: 10.3892/mmr.2017.6489

PMCID:: PMC5436159

Article PDF–719K

Select item 48591279.

Investigation of FANCA gene in Fanconi anaemia patients in Iran

Ali Akbar Saffar Moghadam, Frouzandeh Mahjoubi, Nahid Reisi, Parvaneh Vosough

Indian J Med Res. 2016 Feb; 143(2): 184–196. doi: 10.4103/0971-5916.180206

PMCID:: PMC4859127

Article PDF–3.0M

Select item 328161810.

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

Article PDF–1.2M

Select item 308329511.

Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations

Maria Castella, Roser Pujol, Elsa Callén, Juan P. Trujillo, José A. Casado, Hans Gille, Francis P. Lach, Arleen D. Auerbach, Detlev Schindler, Javier Benítez, Beatriz Porto, Teresa Ferro, Arturo Muñoz, Julián Sevilla, Luis Madero, Elena Cela, Cristina Beléndez, Cristina Díaz de Heredia, Teresa Olivé, José Sánchez de Toledo, Isabel Badell, Montserrat Torrent, Jesús Estella, Ángeles Dasí, Antonia Rodríguez-Villa, Pedro Gómez, José Barbot, María Tapia, Antonio Molinés, Ángela Figuera, Juan A. Bueren, Jordi Surrallés

Blood. 2011 Apr 7; 117(14): 3759–3769. Prepublished online 2011 Jan 27. doi: 10.1182/blood-2010-08-299917

PMCID:: PMC3083295

Article

Select item 270431312.

Fanca^−/− hematopoietic stem cells demonstrate a mobilization defect which can be overcome by administration of the Rac inhibitor NSC23766

Michael D. Milsom, Andrew W. Lee, Yi Zheng, Jose A. Cancelas

Haematologica. 2009 Jul; 94(7): 1011–1015. doi: 10.3324/haematol.2008.004077

PMCID:: PMC2704313

Article PDF–325K

Select item 263685513.

Fanconi anemia deficiency stimulates HPV-associated hyperplastic growth in organotypic epithelial raft culture

Elizabeth E. Hoskins, Teresa A. Morris, Jennifer M. Higginbotham, Nicole Spardy, Elliot Cha, Patrick Kelly, David A. Williams, Kathryn A. Wikenheiser-Brokamp, Stefan Duensing, Susanne I. Wells

Oncogene. Author manuscript; available in PMC 2009 Aug 5.

Published in final edited form as: Oncogene. 2009 Feb 5; 28(5): 674–685. Published online 2008 Nov 17. doi: 10.1038/onc.2008.416

PMCID:: PMC2636855

Article PDF–2.1M

Select item 197576214.

Fanconi Anemia a Is a Nucleocytoplasmic Shuttling Molecule Required for Gonadotropin-Releasing Hormone (GnRH) Transduction of the GnRH Receptor

Rachel Larder, Dimitra Karali, Nancy Nelson, Pamela Brown

Endocrinology. Author manuscript; available in PMC 2007 Sep 11.

Published in final edited form as: Endocrinology. 2006 Dec; 147(12): 5676–5689. Published online 2006 Aug 31. doi: 10.1210/en.2006-0383

PMCID:: PMC1975762

Article PDF–1.6M

Select item 191471315.

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 171609316.

Mutations of the Fanconi anemia group A gene (FAA) in Italian patients.

M Savino, L Ianzano, P Strippoli, U Ramenghi, A Arslanian, G P Bagnara, H Joenje, L Zelante, A Savoia

Am J Hum Genet. 1997 Dec; 61(6): 1246–1253. doi: 10.1086/301632

PMCID:: PMC1716093

Summary Page Browse PDF–1.4M

Select item 128828517.

High Frequency of Large Intragenic Deletions in the Fanconi Anemia Group A Gene

Neil V. Morgan, Alex J. Tipping, Hans Joenje, Christopher G. Mathew

Am J Hum Genet. 1999 Nov; 65(5): 1330–1341. Published online 1999 Oct 11. doi: 10.1086/302627

PMCID:: PMC1288285

Article PDF–306K

Select item 128753618.

Complementation Analysis in Fanconi Anemia: Assignment of the Reference FA-H Patient to Group A

Hans Joenje, Marieke Levitus, Quinten Waisfisz, Alan D’Andrea, Irene Garcia-Higuera, Tommy Pearson, Carola G. M. van Berkel, Martin A. Rooimans, Neil Morgan, Christopher G. Mathew, Fré Arwert

Am J Hum Genet. 2000 Sep; 67(3): 759–762. Published online 2000 Aug 8. doi: 10.1086/303067

PMCID:: PMC1287536

Article PDF–153K

Select item 3328219.

Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa

A. J. Tipping, T. Pearson, N. V. Morgan, R. A. Gibson, L. P. Kuyt, C. Havenga, E. Gluckman, H. Joenje, T. de Ravel, S. Jansen, C. G. Mathew

Proc Natl Acad Sci U S A. 2001 May 8; 98(10): 5734–5739. doi: 10.1073/pnas.091402398

PMCID:: PMC33282

Article PDF–167K

Select item 2426120.

Sequence variation in the Fanconi anemia gene FAA

Orna Levran, Tamar Erlich, Neiva Magdalena, John J. Gregory, Sat Dev Batish, Peter C. Verlander, Arleen D. Auerbach

Proc Natl Acad Sci U S A. 1997 Nov 25; 94(24): 13051–13056. doi: 10.1073/pnas.94.24.13051

PMCID:: PMC24261

Article PDF–284K

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