Rodríguez, Alfredo Zhang, Kaiyang Färkkilä, Anniina Filiatrault, Jessica Yang, Chunyu Velázquez, Martha Furutani, Elissa Goldman, Devorah C García de Teresa, Benilde Garza-Mayén, Gilda
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Published in
Cell stem cell
Bone marrow failure (BMF) in Fanconi anemia (FA) patients results from dysfunctional hematopoietic stem and progenitor cells (HSPCs). To identify determinants of BMF, we performed single-cell transcriptome profiling of primary HSPCs from FA patients. In addition to overexpression of p53 and TGF-β pathway genes, we identified high levels of MYC expr...
Uppuluri, Ramya Swaminathan, Venkateswaran Vellaichamy Ramanan, Kesavan Melarcode Meena, Satishkumar Varla, Harika Ramakrishnan, Balasubramaniam Jayakumar, Indira Raj, Revathi
Published in
Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation
Fanconi anemia is the most common inherited bone marrow failure syndrome, and hematopoietic stem cell transplantation (HSCT) is the only curative option. Post-transplant cyclophosphamide (PTCy) is challenging in this group of children, given their increased sensitivity to chemotherapy. We performed a retrospective analysis of the data on children d...
Moreno, Olga M. Sánchez, Ana I. Herreño, Angélica Giraldo, Gustavo Suárez, Fernando Prieto, Juan Carlos Clavijo, Ana Shaia Olaya, Mercedes Vargas, Yaris Benítez, Javier
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Published in
Molecular Syndromology
VACTERL association (OMIM 192350) is a heterogeneous clinical condition characterized by congenital structural defects that include at least 3 of the following features: vertebral abnormalities, anal atresia, heart defects, tracheoesophageal fistula, renal malformations, and limb defects. The nonrandom occurrence of these malformations and some fam...
Nagareddy, Bhavika Khan, Arafat Kim, Hyungjin
Published in
The Journal of biological chemistry
Fanconi anemia (FA) is a chromosome instability syndrome of children caused by inherited mutations in one of FA genes, which together constitute a DNA interstrand cross-link (ICL) repair, or the FA pathway. Monoubiquitination of Fanconi anemia group D2 protein (FANCD2) by the multisubunit ubiquitin E3 ligase, the FA core complex, is an obligate ste...
Thongthip, Supawat Conti, Brooke A Lach, Francis P Smogorzewska, Agata
Published in
Cell cycle (Georgetown, Tex.)
Severe cellular sensitivity and aberrant chromosomal rearrangements in response to DNA interstrand crosslink (ICL) inducing agents are hallmarks of Fanconi anemia (FA) deficient cells. These phenotypes have previously been ascribed to inappropriate activity of non-homologous end joining (NHEJ) rather than a direct consequence of DNA ICL repair defe...
Toksoy, Güven Uludağ Alkaya, Dilek Bagirova, Gülendam Avcı, Şahin Aghayev, Agharza Günes, Nilay Altunoğlu, Umut Alanay, Yasemin Başaran, Seher Berkay, Ezgi G.
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Published in
Molecular Syndromology
Fanconi anemia (FA) is a rare multigenic chromosomal instability syndrome that predisposes patients to life-threatening bone marrow failure, congenital malformations, and cancer. Functional loss of interstrand cross-link (ICL) DNA repair system is held responsible, though the mechanism is not yet fully understood. The clinical and molecular finding...
Milletti, Giacomo Strocchio, Luisa Pagliara, Daria Girardi, Katia Carta, Roberto Mastronuzzi, Angela Locatelli, Franco Nazio, Francesca
Published in
Cancers
Simple Summary Fanconi anemia (FA) is a genetic disorder that is characterized by bone marrow failure (BMF), developmental abnormalities, and predisposition to cancer. In this review, we present an overview of both canonical (regulation of interstrand cross-links repair, ICLs) and noncanonical roles of FA proteins. We divide noncanonical alternativ...
Jung, Moonjung Mehta, Parinda A Jiang, Caroline S Rosti, Rasim O Usleaman, Gabriel Correa da Rosa, Joel M Lach, Francis P Goodridge, Erica Auerbach, Arleen D Davies, Stella M
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Published in
British journal of haematology
Fanconi anaemia (FA) is a genetic disorder due to mutations in any of the 22 FANC genes (FANCA-FANCW) and has high phenotypic variation. Siblings may have similar clinical outcome because they share the same variants; however, such association has not been reported. We present the detailed phenotype and clinical course of 25 sibling sets with FA fr...
Repczynska, Anna Pastorczak, Agata Babol-Pokora, Katarzyna Skalska-Sadowska, Jolanta Drozniewska, Malgorzata Mlynarski, Wojciech Haus, Olga
Published in
Molecular Cytogenetics
BackgroundFanconi anemia is a rare genetic disorder caused by mutations in genes which protein products are involved in replication, cell cycle control and DNA repair. It is characterized by congenital malformations, bone marrow failure, and high risk of cancer. The diagnosis is based on morphological and hematological abnormalities such as pancyto...
Negahdari, Samira Zamani, Mina Seifi, Tahereh Sedighzadeh, Sahar Mazaheri, Neda Zeighami, Jawaher Sedaghat, Alireza Saberi, Alihossein Hamid, Mohammad keikhaei, Bijan
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Published in
International Journal of Preventive Medicine
Background: Various blood diseases are caused by mutations in the FANCA , FANCC , and ITGA2B genes. Exome sequencing is a suitable method for identifying single-gene disease and genetic heterogeneity complaints. Methods: Among families who were referred to Narges Genetic and PND Laboratory in 2015-2017, five families with a history of blood disease...