Results 91 to 100 of about 2,254,317 (172)

The TP53 tumor suppressor gene: From molecular biology to clinical investigations

Journal of Internal Medicine, Volume 298, Issue 2, Page 78-96, August 2025.
Abstract Extensively studied over the past four decades, the TP53 gene has emerged as a pivotal watchman in cellular defense and a key factor in cancer biology. TP53 is the most frequently mutated gene in human malignancies, 50% of which carry alterations to it.
Panagiotis Baliakas, Thierry Soussi
wiley   +1 more source

A case report of a rare Shwachman-Diamond syndrome with liver involvement [PDF]

, 2012
زمینه و هدف: سندرم شواخمن (SDS) یک بیماری نادر ارثی است که در سنین کودکی با علایم گرفتاری چند ارگان از جمله پانکراس اگزوکرین و مغز استخوان و نیز با علایم اختلال رشد تظاهر می کند.
Falahi, Gholam Hossein., Ghaderiyan, Sadegh., Kiyani, Mohammad Ali., Modaresi-Saryazdi, Vajiheh., Pakseresht, Bahar.   +4 more
core  

Nonsense Mutations in Rare and Ultra‐Rare Human Disorders: An Overview

IUBMB Life, Volume 77, Issue 6, June 2025.
ABSTRACT Over 7000 rare diseases have been described, collectively affecting 350 million people worldwide. Most of these conditions result from nonsense mutations, representing approximately 10% of all genetic mutations associated with human inherited diseases.
Emanuele Vitale, Davide Ricci, Federica Corrao, Ignazio Fiduccia, Ilenia Cruciata, Pietro Salvatore Carollo, Alessio Branchini, Laura Lentini, Ivana Pibiri   +8 more
wiley   +1 more source

Diagnosis and treatment of pediatric acquired aplastic anemia (AAA): An initial survey of the North American Pediatric Aplastic Anemia Consortium (NAPAAC) [PDF]

, 2013
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/106711/1/pbc24875 ...
Bennett, Carolyn, Bertuch, Alison, Bessler, Monica, Coates, Thomas, Corey, Seth, Dror, Yigal, Huang, James, Lipton, Jeffrey, Olson, Timothy S., Reiss, Ulrike M., Rogers, Zora R., Shimamura, Akiko, Sieff, Colin, Vlachos, Adrianna, Walkovich, Kelly, Wang, Winfred, Williams, David A.   +16 more
core   +1 more source

Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study.

The Lancet Haematology, 2019
BACKGROUND Data to inform surveillance and treatment for leukaemia predisposition syndromes are scarce and recommendations are largely based on expert opinion.
K. Myers, K. Myers, Elissa Furutani, Elissa Furutani, E. Weller, B. Siegele, Ashley Galvin, Valérie Arsenault, B. Alter, F. Boulad, C. Bueso-Ramos, L. Burroughs, Paul Castillo, J. Connelly, Stella M. Davies, Stella M. Davies, C. Dinardo, Iftikhar Hanif, R. Ho, N. Karras, M. Manalang, L. J. McReynolds, Taizo A Nakano, G. Nalepa, M. Norkin, M. Oberley, E. Orgel, Y. Pastore, J. Rosenthal, K. Walkovich, Jordan Larson, M. Malsch, M. Elghetany, M. Fleming, Akiko Shimamura, Akiko Shimamura   +35 more
semanticscholar   +1 more source

Advancing Therapeutic Strategies for Nonsense‐Related Diseases: From Small Molecules to Nucleic Acid‐Based Innovations

IUBMB Life, Volume 77, Issue 5, May 2025.
ABSTRACT Nonsense mutations in gene coding regions introduce an in‐frame premature termination codon (PTC) in the mRNA transcript, resulting in the early termination of translation and the production of a truncated, nonfunctional protein. The absence of protein expression and the consequent loss of essential cellular functions are responsible for the ...
Davide Ricci, Ilenia Cruciata, Ignazio Fiduccia, Emanuele Vitale, Federica Corrao, Alessio Branchini, Pietro Salvatore Carollo, Ivana Pibiri, Laura Lentini   +8 more
wiley   +1 more source

Neurological Manifestations in Primary Immunodeficiencies [PDF]

, 2016
As imunodeficiências primárias são um grupo heterogéneo de doenças individualmente raras. A sua associação a manifestações neurológicas não é rara, sendo os mecanismos fisiopatológicos implicados distintos consoante a patologia em causa. As manifestações
Conde, M, Cordeiro, AI, Farela Neves, J, Lopes Silva, R, Neves, C, Oliveira, M   +5 more
core  

Chromosome anomalies in bone marrow as primarycause of aplastic or hypoplastic conditions andperipheral cytopenia: disorders due to secondaryimpairment of RUNX1 and MPL genes [PDF]

, 2012
Background Chromosome changes in the bone marrow (BM) of patients with persistent cytopenia are often considered diagnostic for a myelodysplastic syndrome (MDS).
Bernardo Maria, Di Cesare-Merlone Alessandra, Ferrari Simona, Lo Curto Francesco, Locatelli Franco, Loffredo Giuseppe, Mare Lydia, Marletta Cristina, Maserati Emanuela, Menna Giuseppe, Montalbano Giuseppe, Pasquali Francesco, Pressato Barbara, Valli Roberto, Vinti Luciana, Zecca Marco   +15 more
core   +2 more sources

European guidelines on treatment and supportive measures in chronic neutropenias: A consensus between the European Hematology Association and the EuNet‐INNOCHRON COST Action based on a systematic evidence review

HemaSphere, Volume 9, Issue 4, April 2025.
Abstract The treatment of chronic neutropenias and control of neutropenia‐related infections remain challenging topics for pediatric and adult hematologists. This article aims to fill the gap in the treatment of neutropenias and, in combination with the previously published European guidelines on diagnosis of neutropenias, gives complete and ...
Francesca Fioredda, Michail Spanoudakis, Julia Skokowa, Hannah Tamary, Piero Farruggia, Antonio Almeida, Daniela Guardo, Jan Palmblad, Petter Höglund, Ivo P. Touw, Cornelia Zeidler, Alan J. Warren, Mario Csenar, Nicole Skoetz, Elio Castagnola, Erica Ricci, David C. Dale, Peter E. Newburger, Karl Welte, Helen A. Papadaki, Carlo Dufour   +20 more
wiley   +1 more source

Prenatal screening and counseling for genetic disorders [PDF]

, 2013
Introduction: The carriers of the same autosomal recessive disorder are usually unaware of onset of the genetic diseases in the children even if screenings are available for many of these disorders. In this paper, we report the experience of the Prenatal
CASTALDO, GIUSEPPE, MARTINELLI, PASQUALE, MARUOTTI, GIUSEPPE MARIA, SARNO, LAURA, SIMIOLI, STEFANIA   +4 more
core   +1 more source