Results 51 to 60 of about 70,491 (173)

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology

Haematologica, 2014
Fanconi anemia is an inherited disease characterized by congenital malformations, pancytopenia, cancer predisposition, and sensitivity to cross-linking agents.
Daniela De Rocco, Roberta Bottega, Enrico Cappelli, Simona Cavani, Maria Criscuolo, Elena Nicchia, Fabio Corsolini, Chiara Greco, Adriana Borriello, Johanna Svahn, Marta Pillon, Cristina Mecucci, Gabriella Casazza, Federico Verzegnassi, Chiara Cugno, Anna Locasciulli, Piero Farruggia, Daniela Longoni, Ugo Ramenghi, Walter Barberi, Fabio Tucci, Silverio Perrotta, Paola Grammatico, Helmut Hanenberg, Fulvio Della Ragione, Carlo Dufour, Anna Savoia   +26 more
doaj   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2331-2337, October 2026.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Studies in an Early Development Window Unveils a Severe HSC Defect in both Murine and Human Fanconi Anemia

Stem Cell Reports, 2018
Summary: Fanconi anemia (FA) causes bone marrow failure early during childhood, and recent studies indicate that a hematopoietic defect could begin in utero.
Carine Domenech, Loïc Maillard, Alix Rousseau, Fabien Guidez, Laurence Petit, Marika Pla, Denis Clay, Fabien Guimiot, Sandra Sanfilippo, Sebastien Jacques, Pierre de la Grange, Noémie Robil, Jean Soulier, Michèle Souyri   +13 more
doaj   +1 more source

CCNE1: A Cell Cycle Regulator That Influences Tumor Progression

Cancer Medicine, Volume 15, Issue 10, October 2026.
ABSTRACTCyclin E1 (CCNE1), a pivotal member of the cyclin family, governs the G1/S phase transition of the cell cycle by binding to and activating cyclin‐dependent kinase 2 (CDK2), thereby initiating DNA replication and driving S‐phase entry. In a broad spectrum of human malignancies—including breast, ovarian, gastric, and non‐small cell lung cancers ...
Liang Yan, Siyi Liu, Yanling Li, Qian He, Chen Long, Ning Tang, Yanhong Zhou   +6 more
wiley   +1 more source

Iatrogenic chimerism in a patient with Fanconi anemia and delayed puberty

Гинекология, 2020
The article presents a clinical case of delayed puberty in a 13-year-old girl with Fanconi anemia who was sent to the Department of gynecology of children and adolescents for removal of the sexual glands due to the detection of a Y-chromosome in the ...
Zaira Kh. Kumykova, Irina A. Kiseleva, Zalina K. Batyrova, Olga A. Buyanovskaya   +3 more
doaj   +1 more source

Targeting the DNA Damage Response in Cancer

MedComm, Volume 7, Issue 10, October 2026.
Targeting the DNA damage response (DDR) reshapes both tumor vulnerability and antitumor immunity. DNA lesions and DDR inhibitors can promote cytosolic nucleic‐acid sensing, antigen presentation, and immune activation, but can also induce adaptive immune escape.
Yihuan Qiao, Boyu Kang, Jian Zhang, Rui Zhang, Jipeng Li   +4 more
wiley   +1 more source

Beyond the Negative: Insights From Postnatal Medical Genetics Follow‐Up After Nondiagnostic Prenatal Exome Sequencing

Prenatal Diagnosis, Volume 46, Issue 11, Page 1721-1731, October 2026.
ABSTRACT Objective To evaluate postnatal medical genetic reassessment and reinterpretation of prenatal exome sequencing (pES) in liveborn children with prenatally identified structural anomalies and nondiagnostic prenatal genetic testing. Method We performed a retrospective chart review of 61 liveborn children with fetal structural anomalies who had ...
Sophie Albert, Anne Swenerton, Kirsten M. Niles, Sylvie Langlois, Jessica L. Zambonin   +4 more
wiley   +1 more source

Safety in Disclosure: An Integrated Model of Dyadic Disclosure of Marginalized Group Members Across Identities to Dominant Group Members

Social and Personality Psychology Compass, Volume 20, Issue 10, October 2026.
ABSTRACT Self‐disclosure is a well‐documented facilitator of positive intergroup contact. The present work adopts a dyadic perspective to integrate models of disclosure and responsiveness from two previously distinct literature: experience‐based disclosure in interracial interactions and identity disclosure among individuals with stigmatized identities.
Sandra Manfreda, Brianna Lopez, Tory Benson, Valerie Jones Taylor   +3 more
wiley   +1 more source

Hepatic focal nodular hyperplasia developing in a Fanconi anemia patient: a case report and literature review

Haematologica, 2006
Fanconi anemia, an autosomal recessive and X-linked disorder, is known to be associated with a variety of neoplasms. Liver tumors are one of the most frequently observed neoplasms but the association between the two disorders remains obscure.
NM Nuamah, E Hamaloglu, A Ozdemir, A Ozenc, C Sozseker, C Sokmensuer   +5 more
doaj  

FANCONI ANEMIA PRESENTING LATE AS MALIGNANT BUCCAL CARCINOMA; A CASE REPORT

Pakistan Armed Forces Medical Journal, 2020
Fanconi anemia (FA) is a rare, genetically and phenotypically heterogeneous autosomal recessive disorder. It is characterized by various congenital malformations, progressive bone marrow failure usually at a very young age and of tumor development.
Taimoor Ashraf Khan, Qamar Un Nisa Chaudhry, Shehryar Zameer, Abdur Rehman Arshad   +3 more
doaj   +4 more sources