Works matching DE "FANCONI'S anemia"

Results: 1065

Key Ferroptosis Genes and their Predictive and Diagnostic Value in Fanconi Anemia.

Published in:

Physiological Research, 2025, v. 74, n. 2, p. 275, doi. 10.33549/physiolres.935383

By:

Can MENG;
Li HUANG;
Hui HUANG;
Zhenyu ZHAO;
Xiangjun FU;
Hongxia YAO;
Bin WU

Publication type:

Article

DNA interstrand cross-link repair requires replication-fork convergence.

Published in:

Nature Structural & Molecular Biology, 2015, v. 22, n. 3, p. 242, doi. 10.1038/nsmb.2956

By:

Zhang, Jieqiong;
Dewar, James M;
Budzowska, Magda;
Motnenko, Anna;
Cohn, Martin A;
Walter, Johannes C

Publication type:

Article

Regulation of Rev1 by the Fanconi anemia core complex.

Published in:

Nature Structural & Molecular Biology, 2012, v. 19, n. 2, p. 164, doi. 10.1038/nsmb.2222

By:

Kim, Hyungjin;
Yang, Kailin;
Dejsuphong, Donniphat;
D'Andrea, Alan D

Publication type:

Article

Homology-directed Fanconi anemia pathway cross-link repair is dependent on DNA replication.

Published in:

Nature Structural & Molecular Biology, 2011, v. 18, n. 4, p. 500, doi. 10.1038/nsmb.2029

By:

Nakanishi, Koji;
Cavallo, Francesca;
Perrouault, Loïc;
Giovannangeli, Carine;
Moynahan, Mary Ellen;
Barchi, Marco;
Brunet, Erika;
Jasin, Maria

Publication type:

Article

Enhancement of RAD51 recombinase activity by the tumor suppressor PALB2.

Published in:

Nature Structural & Molecular Biology, 2010, v. 17, n. 10, p. 1255, doi. 10.1038/nsmb.1916

By:

Dray, Eloïse;
Etchin, Julia;
Wiese, Claudia;
Saro, Dorina;
Williams, Gareth J.;
Hammel, Michal;
Xiong Yu;
Galkin, Vitold E.;
Dongqing Liu;
Miaw-Sheue Tsai;
Sy, Shirley M.-H.;
Schild, David;
Egelman, Edward;
Junjie Chen;
Sung, Patrick

Publication type:

Article

A new nuclease member of the FAN club.

Published in:

Nature Structural & Molecular Biology, 2010, v. 17, n. 8, p. 926, doi. 10.1038/nsmb0810-926

By:

Min Huang;
D'Andrea, Alan D.

Publication type:

Article

The structure of the catalytic subunit FANCL of the Fanconi anemia core complex.

Published in:

Nature Structural & Molecular Biology, 2010, v. 17, n. 3, p. 294, doi. 10.1038/nsmb.1759

By:

Cole, Ambrose R.;
Lewis, Laurence P. C.;
Walden, Helen

Publication type:

Article

FANCI phosphorylation functions as a molecular switch to turn on the Fanconi anemia pathway.

Published in:

Nature Structural & Molecular Biology, 2008, v. 15, n. 11, p. 1138, doi. 10.1038/nsmb.1504

By:

Ishiai, Masamichi;
Kitao, Hiroyuki;
Smogorzewska, Agata;
Tomida, Junya;
Kinomura, Aiko;
Uchida, Emi;
Saberi, Alihossein;
Kinoshita, Eiji;
Kinoshita-Kikuta, Emiko;
Koike, Tohru;
Tashiro, Satoshi;
Elledge, Stephen J.;
Takata, Minoru

Publication type:

Article

A major switch for the Fanconi anemia DNA damage–response pathway.

Published in:

Nature Structural & Molecular Biology, 2008, v. 15, n. 11, p. 1128, doi. 10.1038/nsmb1108-1128

By:

Weidong Wang

Publication type:

Article

FANCI is a second monoubiquitinated member of the Fanconi anemia pathway.

Published in:

Nature Structural & Molecular Biology, 2007, v. 14, n. 6, p. 564, doi. 10.1038/nsmb1252

By:

Sims, Ashley E.;
Spiteri, Elizabeth;
Sims, Robert J.;
Arita, Adriana G.;
Lach, Francis P.;
Landers, Thomas;
Wurm, Melanie;
Freund, Marcel;
Neveling, Kornelia;
Hanenberg, Helmut;
Auerbach, Arleen D.;
Huang, Tony T.

Publication type:

Article

Novel variants in women with premature ovarian function decline identified via whole-exome sequencing.

Published in:

Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 10, p. 2487, doi. 10.1007/s10815-020-01919-y

By:

Tang, Ruiyi;
Yu, Qi

Publication type:

Article

Spectrum of FANCA mutations in Italian Fanconi anemia patients: Identification of six novel alleles and phenotypic characterization of the S858R variant<FN ID="fn1">Communicated by Mark H. Paalman</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #651 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/651.pdf</FN>

Published in:

Human Mutation, 2003, v. 22, n. 4, p. 338, doi. 10.1002/humu.9180

By:

Maria Savino;
Adriana Borriello;
Maria d'Apolito;
Maria Criscuolo;
Maria Del Vecchio;
Anna Monica Bianco;
Michele Di Perna;
Rita Calzone;
Bruno Nobili;
Adriana Zatterale;
Leopoldo Zelante;
Hans Joenje;
Fulvio Della Ragione;
Anna Savoia

Publication type:

Article

Spectrum of sequence variation in the FANCG gene: An International Fanconi Anemia Registry (IFAR) study.

Published in:

2003

By:

Arleen D. Auerbach;
Jason Greenbaum;
Kanan Pujara;
Sat Dev Batish;
Marco A. Bitencourt;
Indira Kokemohr;
Hildegard Schneider;
Stephan Lobitz;
Ricardo Pasquini;
Philip F. Giampietro;
Helmut Hanenberg;
Orna Levran

Publication type:

Erratum

Two common founder mutations of the fanconi anemia group g gene FANCG/XRCC9 in the Japanese population (Communicated by Christopher G. Mathew) Online Citation: Human Mutation, Mutation in Brief #613 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/613.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 555, doi. 10.1002/humu.9142

By:

Hiroshi Yagasaki;
Tsukasa Oda;
Daiki Adachi;
Toshiaki Nakajima;
Tatsutoshi Nakahata;
Shigetaka Asano;
Takayuki Yamashita

Publication type:

Article

Two common founder mutations of the fanconi anemia group g gene FANCG/XRCC9 in the Japanese populationCommunicated by Christopher G. MathewOnline Citation: Human Mutation, Mutation in Brief #613 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/613.pdf

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 555, doi. 10.1002/humu.9142

By:

Hiroshi Yagasaki;
Tsukasa Oda;
Daiki Adachi;
Toshiaki Nakajima;
Tatsutoshi Nakahata;
Shigetaka Asano;
Takayuki Yamashita

Publication type:

Article

Quantitative anatomy of the primary ossification center of the radial shaft in human fetuses.

Published in:

Surgical & Radiologic Anatomy, 2019, v. 41, n. 8, p. 901, doi. 10.1007/s00276-019-02247-2

By:

Wiśniewski, Marcin;
Baumgart, Mariusz;
Grzonkowska, Magdalena;
Siedlecki, Zygmunt;
Piec, Maciej;
Szpinda, Michał;
Pawlak-Osińska, Katarzyna

Publication type:

Article

A Boolean network model of the FA/BRCA pathway.

Published in:

Bioinformatics, 2012, v. 28, n. 6, p. 858

By:

Rodríguez, Alfredo;
Sosa, David;
Torres, Leda;
Molina, Bertha;
Frías, Sara;
Mendoza, Luis

Publication type:

Article

Cord blood banking: Balancing hype and hope in stem cell therapy.

Published in:

European Journal of Midwifery, 2024, v. 8, p. 1, doi. 10.18332/ejm/192930

By:

Bień, Agnieszka;
Vermeulen, Joeri;
Bączek, Grażyna;
Pięta, Michalina;
Pięta, Beata

Publication type:

Article

FROM GENE TO DISEASE: FANCONI ANEMIA.

Published in:

Journal of Ankara Medical School, 2004, v. 26, n. 1, p. 27

By:

Babaoglu, Elif;
Ruhi, Hatice Ilgin;
Tükün, Ajlan

Publication type:

Article

Brca1 mutations in the coiled-coil domain impede Rad51 loading on DNA and mouse development.

Published in:

Molecular & Cellular Oncology, 2020, v. 7, n. 5, p. 1, doi. 10.1080/23723556.2020.1786345

By:

Krais, J. J.;
Johnson, N.

Publication type:

Article

Stitching up broken DNA ends by FANCA.

Published in:

Molecular & Cellular Oncology, 2018, v. 5, n. 6, p. 1, doi. 10.1080/23723556.2018.1518101

By:

Palovcak, Anna;
Liu, Wenjun;
Yuan, Fenghua;
Zhang, Yanbin

Publication type:

Article

Arabidopsis thaliana FANCD2 Promotes Meiotic Crossover Formation.

Published in:

Plant Cell, 2018, v. 30, n. 2, p. 415, doi. 10.1105/tpc.17.00745

By:

Kurzbauer, Marie-Therese;
Pradillo, Mónica;
Kerzendorfer, Claudia;
Sims, Jason;
Ladurner, Rene;
Oliver, Cecilia;
Janisiw, Michael Peter;
Mosiolek, Magdalena;
Schweizer, Dieter;
Copenhaver, Gregory P.;
Schlögelhofer, Peter

Publication type:

Article

Fanconi Anemia Ortholog FANCM Ensures Ordered Homologous Recombination in Both Somatic and Meiotic Cells in Arabidopsis.

Published in:

Plant Cell, 2012, v. 24, n. 4, p. 1448, doi. 10.1105/tpc.112.096644

By:

Knoll, Alexander;
Higgins, James D.;
Seeliger, Katharina;
Reha, Sarah J.;
Dangel, Natalie J.;
Bauknecht, Markus;
Schröpfer, Susan;
Franklin, F. Christopher H.;
Puchta, Holger

Publication type:

Article

Integrated analysis of FANCE expression and its regulatory role in the immune microenvironment of oral squamous cell carcinoma.

Published in:

Oncology Letters, 2025, v. 29, n. 3, p. N.PAG, doi. 10.3892/ol.2025.14906

By:

Lin, Bo;
Chen, Yuling;
Li, Xiaolian;
Lin, Yuntao;
Zhou, Jian;
Yang, Hongyu;
Shen, Yuehong

Publication type:

Article

Expression and prognostic significance of Fanconi anemia group D2 protein and breast cancer type 1 susceptibility protein in familial and sporadic breast cancer.

Published in:

Oncology Letters, 2019, v. 17, n. 4, p. 3687

By:

Feng, Liang;
Jin, Feng

Publication type:

Article

Fanconi anemia in twins with neutropenia: A case report.

Published in:

2018

By:

Deng, Wenjun;
Zhao, Mingyi;
Liu, Yingting;
Cao, Lizhi;
Yang, Minghua

Publication type:

Case Study

BRCA1 homozygous unclassified variant in a patient with non‑Fanconi anemia: A case report.

Published in:

2018

By:

Davide, Bondavalli;
Francesca, Malvestiti;
Valeria, PENsotti;
IrENe, Feroce;
Bernardo, Bonanni

Publication type:

Case Study

Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report.

Published in:

2016

By:

LOIZIDOU, MARIA A.;
HADJISAVVAS, ANDREAS;
TANTELES, GEORGE A.;
SPANOU-ARISTIDOU, ELENA;
KYRIACOU, KYRIACOS;
CHRISTOPHIDOU-ANASTASIADOU, VIOLETTA

Publication type:

Case Study

Posters.

Published in:: 2018
Publication type:: Abstract

A Multidrug Approach to Modulate the Mitochondrial Metabolism Impairment and Relative Oxidative Stress in Fanconi Anemia Complementation Group A.

Published in:

Metabolites (2218-1989), 2022, v. 12, n. 1, p. 6, doi. 10.3390/metabo12010006

By:

Cappelli, Enrico;
Bertola, Nadia;
Bruno, Silvia;
Degan, Paolo;
Regis, Stefano;
Corsolini, Fabio;
Banelli, Barbara;
Dufour, Carlo;
Ravera, Silvia

Publication type:

Article

Food Toxicity of Mycotoxin Citrinin and Molecular Mechanisms of Its Potential Toxicity Effects through the Implicated Targets Predicted by Computer-Aided Multidimensional Data Analysis.

Published in:

Life (2075-1729), 2023, v. 13, n. 4, p. 880, doi. 10.3390/life13040880

By:

Zargar, Seema;
Wani, Tanveer A.

Publication type:

Article

Treatment of Fanconi anemia patient with synchronous esophageal and tongue cancer in COVID-19 era: a case report.

Published in:

Radiation Oncology Journal, 2024, v. 42, n. 1, p. 83, doi. 10.3857/roj.2023.00654

By:

Tae Hyun Kim;
Jin Ho Kim;
Chang Hyun Kang;
Bhumsuk Keam;
Hak Jae Kim

Publication type:

Article

Natural Killer Cell Degranulation Defect: A Cause for Impaired NK-Cell Cytotoxicity and Hyperinflammation in Fanconi Anemia Patients.

Published in:

Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.00490

By:

Shabrish, Snehal;
Kelkar, Madhura;
Chavan, Niranjan;
Desai, Mukesh;
Bargir, Umair;
Gupta, Maya;
Mehta, Priti;
Chichra, Akanksha;
S, Chandrakala;
Taur, Prasad;
Saxena, Vinay;
Vundinti, Babu Rao;
Madkaikar, Manisha

Publication type:

Article

Renal dysfunction and hypophosphatemia during long-term lamivudine plus adefovir dipivoxil therapy in patients with chronic hepatitis B.

Published in:

Journal of Gastroenterology, 2014, v. 49, n. 3, p. 470, doi. 10.1007/s00535-013-0779-0

By:

Tanaka, Mio;
Suzuki, Fumitaka;
Seko, Yuya;
Hara, Tasuku;
Kawamura, Yusuke;
Sezaki, Hitomi;
Hosaka, Tetsuya;
Akuta, Norio;
Kobayashi, Masahiro;
Suzuki, Yoshiyuki;
Saitoh, Satoshi;
Arase, Yasuji;
Ikeda, Kenji;
Kobayashi, Mariko;
Kumada, Hiromitsu

Publication type:

Article

Homozygous Mutation in the FANCD2 Gene Observed in a Saudi Male Infant with Severe Ambiguous Genitalia.

Published in:

Case Reports in Endocrinology, 2021, p. 1, doi. 10.1155/2021/6686312

By:

Al Jabri, Aida;
Al Naim, Nusaybah;
Al Dossari, Abeer

Publication type:

Article

Minimal antileukaemic treatment followed by reduced-intensity conditioning in three consecutive children with Fanconi anaemia and AML.

Published in:

Bone Marrow Transplantation, 2015, v. 50, n. 3, p. 463, doi. 10.1038/bmt.2014.283

By:

Beier, R;
Maecker-Kolhoff, B;
Sykora, K-W;
Chao, M;
Kratz, C;
Sauer, M G

Publication type:

Article

Feasibility and outcome of haploidentical SCT in pediatric high-risk hematologic malignancies and Fanconi anemia in Uruguay.

Published in:

Bone Marrow Transplantation, 2012, v. 47, n. 5, p. 663, doi. 10.1038/bmt.2011.148

By:

Dufort, G;
Pisano, S;
Incoronato, A;
Castiglioni, M;
Carracedo, M;
Pagés, C;
Simon, E;
Zuccolo, S;
Barcelona, R;
Mezzano, R;
Tiscornia, A;
Lemos, F;
Morosini, F;
Schelotto, M;
Giordano, H;
Carreto, E;
Bengoechea, M;
Boggia, B;
Rodriguez, I;
Guerrero, L

Publication type:

Article

Successful allo-HSCT with a minimal myeloablative conditioning regimen in an adult patient with Fanconi's anemia.

Published in:

2012

By:

Maekawa, K;
Yoshimitsu, M;
Fujiwara, H;
Matsushita, K;
Kawada, H;
Hamada, H;
Suzuki, S;
Uozumi, K;
Ohtsuka, M;
Hanada, S;
Yabe, M;
Yabe, H;
Arima, N

Publication type:

Letter

Treatment of Fanconi anemia patients using fludarabine and low-dose TBI, followed by unrelated donor hematopoietic cell transplantation.

Published in:

Bone Marrow Transplantation, 2011, v. 46, n. 4, p. 539, doi. 10.1038/bmt.2010.154

By:

Thakar, M. S.;
Kurre, P.;
Storb, R.;
Kletzel, M.;
Frangoul, H.;
Pulsipher, M. A.;
Leisenring, W.;
Flowers, M. E. D;
Sandmaier, B. M.;
Woolfrey, A.;
Kiem, H.-P.

Publication type:

Article

Fanconi Anemia patient with AML1 gene amplification and monosomy 7 in pre-transplant myelodysplasia (MDS) relapsing 7 years after successful allo-SCT.

Published in:

2008

By:

Ayas, M.;
Walter, C.

Publication type:

Letter

HSCT for Fanconi anemia in children: factors that influence early and late results.

Published in:

Bone Marrow Transplantation, 2008, v. 42, p. S51, doi. 10.1038/bmt.2008.284

By:

Dalle, J.-H.

Publication type:

Article

Matched-related allogeneic stem cell transplantation in Saudi patients with Fanconi anemia: 10 year's experience.

Published in:

Bone Marrow Transplantation, 2008, v. 42, p. S45, doi. 10.1038/bmt.2008.114

By:

Ayas, M.;
Al-Jefri, A.;
Al-Seraihi, A.;
Elkum, N.;
Al-Mahr, M.;
El-Solh, H.

Publication type:

Article

Allogeneic hematopoietic stem cell transplantation in Tunisia.

Published in:

Bone Marrow Transplantation, 2008, v. 42, p. S139, doi. 10.1038/bmt.2008.143

By:

Othman, T. Ben;
Torjemane, L.;
Abdelkefi, A.;
Lakhal, A.;
Ladeb, S.;
Hamed, L. Ben;
Slama, H.;
Abdeladhim, A. Ben

Publication type:

Article

The changing role of stem cell transplantation in childhood.

Published in:

Bone Marrow Transplantation, 2008, v. 41, p. S3, doi. 10.1038/bmt.2008.45

By:

Locatelli, F.;
Giorgiani, G.;
Di-Cesare-Merlone, A.;
Merli, P.;
Sparta, V.;
Moretta, F.

Publication type:

Article

Fanconi anaemia: new strategies.

Published in:

Bone Marrow Transplantation, 2008, v. 41, p. S90, doi. 10.1038/bmt.2008.63

By:

Dufour, C.;
Svahn, J.

Publication type:

Article

Physicians Poster Sessions.

Published in:: 2008
Publication type:: Abstract

Allogeneic stem cell transplantation in Fanconi anemia patients presenting with myelodysplasia and/or clonal abnormality: update on the Saudi experience.

Published in:

Bone Marrow Transplantation, 2008, v. 41, n. 3, p. 261, doi. 10.1038/sj.bmt.1705903

By:

Ayas, M.;
Al-Jefri, A.;
Al-Seraihi, A.;
Al-Mahr, M.;
Rifai, S.;
Al-Ahmari, A.;
Khairy, A.;
El-Hassan, I.;
El-Solh, H.

Publication type:

Article

Hematopoietic stem cell transplantation in childhood inherited bone marrow failure syndrome.

Published in:

Bone Marrow Transplantation, 2008, v. 41, n. 2, p. 127, doi. 10.1038/sj.bmt.1705960

By:

Gluckman, E.;
Wagner, J. E.

Publication type:

Article

Endocrine dysfunction and parameters of the metabolic syndrome after bone marrow transplantation during childhood and adolescence.

Published in:

Bone Marrow Transplantation, 2006, v. 37, n. 12, p. 1109, doi. 10.1038/sj.bmt.1705374

By:

Shalitin, S.;
Phillip, M.;
Stein, J.;
Goshen, Y.;
Carmi, D.;
Yaniv, I.

Publication type:

Article

Successful HSCT using nonradiotherapy-based conditioning regimens and alternative donors in patients with Fanconi anaemia – experience in a single UK centre.

Published in:

Bone Marrow Transplantation, 2005, v. 36, n. 5, p. 405, doi. 10.1038/sj.bmt.1705071

By:

Motwani, J.;
Lawson, S. E.;
Darbyshire, P. J.

Publication type:

Article