Log in

Relevant bibliographies by topics / Anemia di Fanconi

Contents

Journal articles
Dissertations / Theses

Academic literature on the topic 'Anemia di Fanconi'

Author: Grafiati

Published: 11 March 2023

Last updated: 31 July 2025

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the lists of relevant articles, books, theses, conference reports, and other scholarly sources on the topic 'Anemia di Fanconi.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Journal articles on the topic "Anemia di Fanconi"

1

Aulia, Wita. "ANEMIA FANCONI: GAMBARAN KLINIS." JIMKI: Jurnal Ilmiah Mahasiswa Kedokteran Indonesia 7, no. 2 (2020): 122–24. http://dx.doi.org/10.53366/jimki.v7i2.86.

Full text

Abstract:

Anemia Fanconi adalah kelainan autosom resesif dapat disebabkan karena kelainanbawaan atau faktor genetik, yang nantinya cenderung mengarah keganasan. Gen yangbermutasi pada penyakit ini di kenal sebagai FANC (Fanconi Anemia Complementation).Gambaran klinis muncul secara progresif akibat kegagalan sumsum tulang,mengakibatkan kelainan fisik yang paling sering berupa perawakan pendek,hiperpigmentasi kulit, abnormal pada kepala seperti mikrosefali ataupun hidrosefali.Temuan yang lain sangat mendasari ialah kelainan hematologi dimana jumlah eritrositmengalami penurunan.

APA, Harvard, Vancouver, ISO, and other styles

2

Marotta, Serena, Antonio M. Risitano, Rita Calzone, Oriana Catapano, and Adriana Zatterale. "The Natural History of Fanconi Anemia: A Report from the Italian Fanconi Anemia Registry (RIAF)." Blood 126, no. 23 (2015): 1208. http://dx.doi.org/10.1182/blood.v126.23.1208.1208.

Full text

Abstract:

Abstract Fanconi anemia (FA) is a rare inherited syndrome characterized by chromosomal instability, eventually resulting in a number of manifestations affecting the hematopoietic system and other organs. The phenotype of FA patients is largely heterogeneous, and encompasses different clinical manifestations that may be present at birth, or rather develop later during the disease course. Thus, even due to the rarity of the disease, the natural history of FA remains hard to be established in its details. To accomplish the need of a large disease registry, in 1994 we have established at the local

APA, Harvard, Vancouver, ISO, and other styles

3

Najjar, Abeer. "Novel Ubiquitinated Proteins Downstream of the Fanconi Anemia Core Complex." Blood 138, Supplement 1 (2021): 1116. http://dx.doi.org/10.1182/blood-2021-152902.

Full text

Abstract:

Abstract The Fanconi anemia (FA) pathway is a major player in the control of DNA replication integrity in response to replication stress. Germline defect in the pathway results in the FA syndrome characterized by developmental abnormalities, bone marrow (BM) failure, and genome instability which greatly elevates the incidence of cancers. A pivotal step in the activation of the FA DNA repair pathway is the monoubiquitination of the FANCD2 and FANCI proteins (ID2) by the FA core complex, a unique ubiquitin ligase complex which includes eight proteins (FANCA-FANCG, FANCL, and FAAP100) and UBE2T/F

APA, Harvard, Vancouver, ISO, and other styles

4

Chanarat, Sittinan. "UBL5/Hub1: An Atypical Ubiquitin-Like Protein with a Typical Role as a Stress-Responsive Regulator." International Journal of Molecular Sciences 22, no. 17 (2021): 9384. http://dx.doi.org/10.3390/ijms22179384.

Full text

Abstract:

Members of the ubiquitin-like protein family are known for their ability to modify substrates by covalent conjugation. The highly conserved ubiquitin relative UBL5/Hub1, however, is atypical because it lacks a carboxy-terminal di-glycine motif required for conjugation, and the whole E1-E2-E3 enzyme cascade is likely absent. Though the conjugation-mediated role of UBL5/Hub1 is controversial, it undoubtedly functions by interacting non-covalently with its partners. Several interactors of UBL5/Hub1 identified to date have suggested broad stress-responsive functions of the protein, for example, st

APA, Harvard, Vancouver, ISO, and other styles

5

Wang, Jie, Hao Yin, Wei Zhu, et al. "Research on the resistance of isoviolanthin to hydrogen peroxide-triggered injury of skin keratinocytes based on Transcriptome sequencing and molecular docking." Medicine 102, no. 47 (2023): e36119. http://dx.doi.org/10.1097/md.0000000000036119.

Full text

Abstract:

Apoptosis of skin keratinocytes is closely associated with skin problems in humans and natural flavonoids have shown excellent biological activity. Hence, the study of flavonoids against human keratinocyte apoptosis has aroused the interest of numerous researchers. In this study, methyl thiazolyl tetrazolium (MTT) assay and Western blots were used to investigate the skin-protective effect of isoviolanthin, a di-C-glycoside derived from Dendrobium officinale, on hydrogen peroxide (H2O2)-triggered apoptosis of skin keratinocytes. Transcriptome sequencing (RNA-Seq) was used to detect the altered

APA, Harvard, Vancouver, ISO, and other styles

6

Padella, Antonella, Stephan Hutter, Wencke Walter, et al. "Abstract 5788: Genomic and transcriptomic profiles of DNA damage response genes in acute myeloid leukemia." Cancer Research 82, no. 12_Supplement (2022): 5788. http://dx.doi.org/10.1158/1538-7445.am2022-5788.

Full text

Abstract:

Abstract The DNA damage response (DDR) pathway is frequently deregulated in cancer and it represent an attractive therapeutic opportunity. In acute myeloid leukemia (AML), different mechanisms of DDR deregulation have been identified, but a systematic investigation on DDR alterations is missing. To understand how the DDR pathways contribute to leukemogenesis, we studied the gene expression and mutational profiles of 274 DDR genes by analysing 539 AML cases profiled by whole genome (WGS) and RNA sequencing. WGS data were used to identify mutations in genes of the DDR and in a panel of genes kno

APA, Harvard, Vancouver, ISO, and other styles

7

Padella, Antonella, Giorgia Simonetti, Marco Manfrini, et al. "Alterations of BRCA1 and PALB2 Define a Novel Class of Complex-Karyotype AML with a Very Bad Prognosis." Blood 128, no. 22 (2016): 1677. http://dx.doi.org/10.1182/blood.v128.22.1677.1677.

Full text

Abstract:

Abstract BRCA1 is one of the most important gene associated with familial breast and ovarian cancer susceptibility and is involved in the DNA damage repair and cell cycle arrest. Alterations in BRCA1 and their consequences are well characterized in breast and ovarian tumors, while little is known about its role in Acute Myeloid Leukemia (AML). We aimed to investigate the frequency and the interplay of BRCA1 alterations and patterns of somatic mutations (SNVs) and copy number variations (CNVs) of in AML patients. We genotyped 118 AML samples at either diagnosis or relapse by Single Nucleotide P

APA, Harvard, Vancouver, ISO, and other styles

8

Soverini, Simona, Angela Poerio, Alberto Ferrarini, et al. "Whole-Transcriptome Sequencing In Chronic Myeloid Leukemia Reveals Novel Gene Mutations That May Be Associated with Disease Pathogenesis and Progression." Blood 116, no. 21 (2010): 885. http://dx.doi.org/10.1182/blood.v116.21.885.885.

Full text

Abstract:

Abstract Abstract 885 Philadelphia-positive (Ph+) chronic myeloid leukemia (CML) has always been regarded as a genetically homogeneous disease. However, the fact that a proportion of patients (pts), especially in the high Sokal risk setting, fail tyrosine kinase inhibitor therapy and progress to blast crisis (BC) suggests that a certain degree of heterogeneity exists. It can be hypothesized that genetic factors additional to the Ph+ chromosome may be present in these pts. To address this issue, we are currently using massively parallel sequencing to perform a qualitative and quantitative surve

APA, Harvard, Vancouver, ISO, and other styles

Dissertations / Theses on the topic "Anemia di Fanconi"

1

Bottega, Roberta. "Sviluppo di una strategia per la diagnosi molecolare dell'anemia di Fanconi." Doctoral thesis, Università degli studi di Trieste, 2014. http://hdl.handle.net/10077/9981.

Full text

Abstract:

2012/2013<br>L’anemia di Fanconi (FA) è una malattia genetica rara caratterizzata da malformazioni congenite, pancitopenia, predisposizione al cancro e aumentata sensibilità ad agenti, quali diepossibutano e mitomicina C, che formano legami tra i due filamenti di DNA. La FA è causata da almeno 16 geni che costituiscono, insieme ad altri componenti, un pathaway di riparazione del DNA. L’eterogeneità è uno dei principali motivi che complica la diagnosi molecolare della FA. E’ pertanto necessario un processo a più livelli che implica lo screening di molti esoni o, in alternativa, l’allestim

APA, Harvard, Vancouver, ISO, and other styles

2

Nicchia, Elena. "Development of a new diagnostic algorithm for the study of diseases caractherized by high genetic heterogeneity." Doctoral thesis, Università degli studi di Trieste, 2015. http://hdl.handle.net/10077/10854.

Full text

Abstract:

2013/2014<br>Next Generation Sequencing (NGS) technologies, such the Ion Torrent platform, could allow to simplify the diagnostic process of diseases characterized by an high genetic and phenotypic heterogeneity, because of the possibility to sequence simultaneously more genes and more patients in a single sequencing run. In order to develop a new diagnostic algorithm for rapid molecular diagnosis of these disorders, we have applied the Ion Torrent technology on two different genetically heterogeneous diseases, Fanconi anemia (FA) and inherited thrombocytopenias (IT). Since FA is a disorder b

APA, Harvard, Vancouver, ISO, and other styles

3

PORFIRIO, BERARDINO. "Aspetti citogenetici e molecolari dei meccanismi di riparazione del DNA nell'anemia di Fanconi e relazione tra fenomeni riparativi, eventi mutazionali e trasformazione neoplastica." Doctoral thesis, 1987. http://hdl.handle.net/2158/880333.

Full text

APA, Harvard, Vancouver, ISO, and other styles

We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!