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https://www.readbyqxmd.com/read/29051491/fan1-interaction-with-ubiquitylated-pcna-alleviates-replication-stress-and-preserves-genomic-integrity-independently-of-brca2
#1
Antonio Porro, Matteo Berti, Julia Pizzolato, Serena Bologna, Svenja Kaden, Anja Saxer, Yue Ma, Kazuo Nagasawa, Alessandro A Sartori, Josef Jiricny
Interstrand cross-link (ICL) hypersensitivity is a characteristic trait of Fanconi anemia (FA). Although FANCD2-associated nuclease 1 (FAN1) contributes to ICL repair, FAN1 mutations predispose to karyomegalic interstitial nephritis (KIN) and cancer rather than to FA. Thus, the biological role of FAN1 remains unclear. Because fork stalling in FAN1-deficient cells causes chromosomal instability, we reasoned that the key function of FAN1 might lie in the processing of halted replication forks. Here, we show that FAN1 contains a previously-uncharacterized PCNA interacting peptide (PIP) motif that, together with its ubiquitin-binding zinc finger (UBZ) domain, helps recruit FAN1 to ubiquitylated PCNA accumulated at stalled forks...
October 20, 2017: Nature Communications
https://www.readbyqxmd.com/read/29051281/cancer-in-the-national-cancer-institute-inherited-bone-marrow-failure-syndrome-cohort-after-15-years-of-follow-up
#2
Blanche P Alter, Neelam Giri, Sharon A Savage, Philip S Rosenberg
The National Cancer Institute Inherited Bone Marrow Failure Syndromes Cohort enrolls patients with the four major syndromes: Fanconi anemia, dyskeratosis congenita, Diamond Blackfan anemia, and Shwachman Diamond syndrome, and follows them with a common comprehensive protocol. The current analysis includes more than double the numbers of patients and person-years since our first report in 2010. Patients with Fanconi anemia and dyskeratosis congenita developed head and neck and anogenital squamous cell carcinomas at rates that are hundreds-fold greater than the general population...
October 19, 2017: Haematologica
https://www.readbyqxmd.com/read/29042903/renal-tubular-acidosis-in-patients-with-primary-sj%C3%A3-gren-s-syndrome
#3
Su Woong Jung, Eun Ji Park, Jin Sug Kim, Tae Won Lee, Chun Gyoo Ihm, Sang Ho Lee, Ju-Young Moon, Yang Gyun Kim, Kyung Hwan Jeong
Primary Sjögren's syndrome (pSS) is characterized by lymphocytic infiltration of the exocrine glands resulting in decreased saliva and tear production. It uncommonly involves the kidneys in various forms, including tubulointerstitial nephritis, renal tubular acidosis, Fanconi syndrome, and rarely glomerulonephritis. Its clinical symptoms include muscle weakness, periodic paralysis, and bone pain due to metabolic acidosis and electrolyte imbalance. Herein, we describe the cases of two women with pSS whose presenting symptoms involve the kidneys...
September 2017: Electrolyte & Blood Pressure: E & BP
https://www.readbyqxmd.com/read/29042204/antibody-response-to-human-papillomavirus-vaccination-and-natural-exposure-in-individuals-with-fanconi-anemia
#4
Parinda A Mehta, Sharon Sauter, Xue Zhang, Stella M Davies, Suzanne I Wells, Kasiani C Myers, Gitika Panicker, Elizabeth R Unger, Melinda Butsch Kovacic
Fanconi anemia (FA) is a rare genetic disorder associated with predisposition to head and neck and gynecological squamous cell cancers. In the general population, these cancers are commonly linked to human papillomavirus (HPV) infection. Antibodies to natural HPV infection and HPV vaccination were evaluated in 63 individuals with FA while considering host immune factors. Approximately 30% of reportedly unvaccinated participants were seropositive (HPV6-38%, HPV11-25%, HPV16-26%, and HPV18-26%). Seropositivity was significantly associated with having had sex regardless of age (p=...
October 14, 2017: Vaccine
https://www.readbyqxmd.com/read/29035194/clinicopathologic-characteristics-of-light-chain-proximal-tubulopathy-with-light-chain-inclusions-involving-multiple-renal-cell-types%C3%A2
#5
Xiaomei Li, Feng Xu, Dandan Liang, Shaoshan Liang, Xiaodong Zhu, Mingchao Zhang, Xianghua Huang, Zhihong Liu, Caihong Zeng
Light chain proximal tubulopathy (LCPT) associated with plasma cell dyscrasias is a rare abnormality, especially cases involving multiple cell types. The aim of this study is to explore the characteristics and outcomes of these diseases. We comprehensively evaluated the clinical-pathological data, treatment, and outcomes of 6 LCPT patients with involvement of multiple cell types. In 3 cases, we found that the inclusions largely existed in tubular cells, while in 2 cases they coexisted in podocytes and tubular cells, and in 1 case they coexisted in histiocytes and tubular cells...
October 16, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/29031493/beyond-interstrand-crosslinks-repair-contribution-of-fancd2-and-other-fanconi-anemia-proteins-to-the-replication-of-dna
#6
REVIEW
Maria B Federico, Paola Campodónico, Natalia S Paviolo, Vanesa Gottifredi
Biallelic mutations of FANCD2 and other components of the Fanconi Anemia (FA) pathway cause a disease characterized by bone marrow failure, cancer predisposition and a striking sensitivity to agents that induce crosslinks between the two complementary DNA strands (inter-strand crosslinks-ICL). Such genotoxins were used to characterize the contribution of the FA pathway to the genomic stability of cells, thus unravelling the biological relevance of ICL repair in the context of the disease. Notwithstanding this, whether the defect in ICL repair as the sole trigger for the multiple physiological alterations observed in FA patients is still under investigation...
September 14, 2017: Mutation Research
https://www.readbyqxmd.com/read/29030393/fanconi-anemia-fancd2-and-fanci-proteins-regulate-the-nuclear-dynamics-of-splicing-factors
#7
María Moriel-Carretero, Sara Ovejero, Marie Gérus-Durand, Dimos Vryzas, Angelos Constantinou
Proteins disabled in the cancer-prone disorder Fanconi anemia (FA) ensure the maintenance of chromosomal stability during DNA replication. FA proteins regulate replication dynamics, coordinate replication-coupled repair of interstrand DNA cross-links, and mitigate conflicts between replication and transcription. Here we show that FANCI and FANCD2 associate with splicing factor 3B1 (SF3B1), a key spliceosomal protein of the U2 small nuclear ribonucleoprotein (U2 snRNP). FANCI is in close proximity to SF3B1 in the nucleoplasm of interphase and mitotic cells...
October 13, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/29029121/clinical-heterogeneity-and-phenotypic-expansion-of-napi-iia-associated-disease
#8
Korcan Demir, Melek Yildiz, Hilla Bahat, Michael Goldman, Nisreen Hassan, Shay Tzur, Ayala Ofir, Daniella Magen
Context: NaPi-IIa, encoded by SLC34A1 is a key phosphate transporter in the mammalian proximal tubule, and plays a cardinal role in renal phosphate handling. NaPi-IIa impairment has been linked to various overlapping clinical syndromes, including hypophosphatemic nephrolithiasis with osteoporosis, renal Fanconi's syndrome with chronic kidney disease, and most recently, with idiopathic infantile hypercalcemia and nephrocalcinosis. Objectives: We studied the molecular basis of idiopathic infantile hypercalcemia with partial proximal tubulopathy in two apparently unrelated patients of Israeli and Turkish descent...
September 29, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29021208/constitutive-role-of-the-fanconi-anemia-d2-gene-in-the-replication-stress-response
#9
Yanyan Tian, Xi Shen, Rui Wang, Naeh Klages-Mundt, Erica J Lynn, Sara K Martin, Yin Ye, Min Gao, Junjie Chen, Katharina Schlacher, Lei Li
In response to DNA crosslinking damage, the Fanconi anemia (FA) core complex activates the FA pathway by monoubiquitinating Fanconi anemia complementation group D2 (FANCD2) for the initiation of the nucleolytic processing of the DNA crosslinks and stabilization of stalled replication forks. Given that all the classic FA proteins coordinately monoubiquitinate FANCD2, it is unclear why losses of individual classic FA genes yield varying cellular sensitivities to crosslinking damage. To address this question, we generated cellular knockout models of FA core complex components and FANCD2 and found that FANCD2-null mutants display higher levels of spontaneous chromosomal damage and hypersensitivity to replication-blocking lesions than Fanconi anemia complementation group L (FANCL)-null mutants, suggesting that FANCD2 provides a basal level of DNA protection countering endogenous lesions in the absence of monoubiquitination...
October 11, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29020621/fanconi-anemia-associated-mutations-destabilize-rad51-filaments-and-impair-replication-fork-protection
#10
Karina Zadorozhny, Vincenzo Sannino, Ondrej Beláň, Jarmila Mlčoušková, Mário Špírek, Vincenzo Costanzo, Lumír Krejčí
Fanconi anemia (FA) is a genetic disorder characterized by a defect in DNA interstrand crosslink (ICL) repair, chromosomal instability, and a predisposition to cancer. Recently, two RAD51 mutations were reported to cause an FA-like phenotype. Despite the tight association of FA/HR proteins with replication fork (RF) stabilization during normal replication, it remains unknown how FA-associated RAD51 mutations affect replication beyond ICL lesions. Here, we report that these mutations fail to protect nascent DNA from MRE11-mediated degradation during RF stalling in Xenopus laevis egg extracts...
October 10, 2017: Cell Reports
https://www.readbyqxmd.com/read/29017571/dna-damage-response-and-cancer-therapeutics-through-the-lens-of-the-fanconi-anemia-dna-repair-pathway
#11
REVIEW
Sonali Bhattacharjee, Saikat Nandi
Fanconi Anemia (FA) is a rare, inherited genomic instability disorder, caused by mutations in genes involved in the repair of interstrand DNA crosslinks (ICLs). The FA signaling network contains a unique nuclear protein complex that mediates the monoubiquitylation of the FANCD2 and FANCI heterodimer, and coordinates activities of the downstream DNA repair pathway including nucleotide excision repair, translesion synthesis, and homologous recombination. FA proteins act at different steps of ICL repair in sensing, recognition and processing of DNA lesions...
October 10, 2017: Cell Communication and Signaling: CCS
https://www.readbyqxmd.com/read/28983406/mutation-analysis-of-the-ctns-gene-in-iranian-patients-with-infantile-nephropathic-cystinosis-identification-of-two-novel-mutations
#12
Forough Sadeghipour, Mitra Basiratnia, Ali Derakhshan, Majid Fardaei
Nephropathic cystinosis is an inherited lysosomal transport disorder caused by mutations in the CTNS gene that encodes for a lysosomal membrane transporter, cystinosin. Dysfunction in this protein leads to cystine accumulation in the cells of different organs. The accumulation of cystine in the kidneys becomes apparent with renal tubular Fanconi syndrome between 6 and 12 months of age and leads to renal failure in the first decade of life. The aim of this study was to analyze the CTNS mutations in 20 Iranian patients, from 20 unrelated families, all of whom were afflicted with infantile nephropathic cystinosis...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28979881/cutaneous-manifestations-of-fanconi-s-anemia-in-two-siblings
#13
Satyendra K Singh, Saumya Sankhwar, Jyoti Yadav
No abstract text is available yet for this article.
September 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28975509/short-term-follow-up-of-the-nutritional-status-of-children-with-fanconi-anemia-undergoing-hematopoietic-stem-cell-transplant
#14
Gisele Trennepohl da Costa Heinen, Daniella Schmit, Denise Johnsson Campos, Carmem Bonfim, Estela Iraci Rabito, Regina Maria Vilela
OBJECTIVE: The objective of this study was to evaluate the nutritional status of children diagnosed with Fanconi anemia (FA) during hematopoietic stem cell transplant (HSCT), comparing it with healthy children and children with other hematologic diseases. METHODS: Observational retrospective study was conducted with patients submitted to HSCT in a period of 5 years. We assessed anthropometric and biochemical data, food intake, and gastrointestinal complications in 49 FA patients...
October 3, 2017: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/28969156/patients-with-congenital-limb-anomaly-show-short-telomere-shutdown-of-telomerase-and-deregulated-expression-of-various-telomere-associated-proteins-in-peripheral-blood-mononuclear-cells-a-case-series
#15
Jayitri Mazumdar, Priyanka Chowdhury, Tunisha Bhattacharya, Badal Chandra Mondal, Utpal Ghosh
Congenital limb anomalies are outcome of improper bone formation during embryonic development when cells divide, differentiate with high rate. So, telomerase activity is essential to maintain telomere length for such highly dividing cells. Here, we report four cases of congenital limb anomalies with detailed structures of limbs along with other clinical manifestations of age less than two years. We compared telomere length, expression of telomerase and telomere-associated genes of Peripheral Blood Mononuclear Cells (PBMC) in patient and four age-matched normal individual...
August 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28966006/withdrawn-beyond-interstrand-crosslinks-repair-contribution-of-fancd2-and-other-fanconi-anemia-proteins-to-the-replication-of-dna
#16
Maria B Federico, Paola Campodónico, Natalia S Paviolo, Vanesa Gottifredi
The Publisher regrets that this article is an accidental duplication of an article that has already been published, http://dx.doi.org/ 10.1016/j.mrfmmm.2017.09.006. The duplicate article has therefore been withdrawn. The full Elsevier Policy on Article Withdrawal can be found at https://www.elsevier.com/about/our-business/policies/article-withdrawal.
September 25, 2017: Mutation Research
https://www.readbyqxmd.com/read/28960803/clinical-report-warsaw-breakage-syndrome-with-small-radii-and-fibulae
#17
Sarah Eppley, Robert J Hopkin, Bryce Mendelsohn, Anne M Slavotinek
We present two new cases of Warsaw Breakage Syndrome (WABS), an autosomal recessive cohesinopathy, in sisters aged 13 and 11 years who both had compound heterozygous mutations in DDX11. After exclusion of Fanconi anemia, Bloom syndrome and Nijmegen breakage syndrome, whole exome sequencing revealed two novel variants-c.1523T>G, predicting (p.Leu508Arg) and c.1949-1G>A (IVS19-1G>A), that were confirmed with Sanger sequencing in both affected individuals. DDX11 encodes an iron-sulfur-containing DNA helicase, and mutations in this gene have been reported in the five WABS cases previously identified to date...
September 28, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28950840/diagnostic-challenge-in-a-patient-with-nephropathic-juvenile-cystinosis-a-case-report
#18
Satomi Higashi, Natsuki Matsunoshita, Masako Otani, Etsuro Tokuhiro, Kandai Nozu, Shuichi Ito
BACKGROUND: Cystinosis is a rare autosomal recessive lysosomal disorder characterized by the accumulation of cystine in lysosomes. Cystinosis is much rarer in Asian than Caucasian populations. There are only 14 patients have with cystinosis alive in Japan. Most cystinosis is the nephropathic infantile form, as indicated by its apparent and severe clinical manifestations, including renal and ocular symptoms. Patients with the nephropathic juvenile form account for 5% of those with cystinosis...
September 26, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28950089/fanconi-anemia-pathway
#19
Alfredo Rodríguez, Alan D'Andrea
Rodríguez and D'Andrea introduce the Fanconi anemia pathway and its role in DNA repair and other cellular functions.
September 25, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28940308/safety-and-pharmacokinetics-of-the-oral-iron-chelator-sp-420-in-%C3%AE-thalassemia
#20
Ali T Taher, Antoine N Saliba, Kevin H Kuo, Patricia J Giardina, Alan R Cohen, Ellis J Neufeld, Yesim Aydinok, Janet L Kwiatkowski, Brenda I Jeglinski, Keith Pietropaolo, Gregory Berk, Vip Viprakasit
Our Phase I, open-label, multi-center, dose-escalation study evaluated the pharmacokinetics (PK) of SP-420, a tridentate oral iron chelating agent of the desferrithiocin class, in patients with transfusion dependent β-thalassemia. SP-420 was administered as a single dose of 1.5 (n=3), 3 (n=3), 6 (n=3), 12 (n=3), and 24 (n=6) mg/kg or as a twice-daily dose of 9 mg/kg (n=6) over 14-28 days. There was a near dose-linear increase in the mean plasma SP-420 concentrations and in the mean values for Cmax and AUC0-τ over the dose range evaluated...
September 22, 2017: American Journal of Hematology
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