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Fanconi syndrome

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https://www.readbyqxmd.com/read/28315701/perspective-a-defined-role-for-multiple-fanconi-anemia-gene-products-in-dna-damage-associated-ubiquitination
#1
REVIEW
Winnie Tan, Andrew J Deans
Fanconi anemia (FA) is an inherited blood disorder that causes bone marrow failure and high predisposition to cancers. The FA pathway guards the cells' genome stability by orchestrating the repair of interstrand crosslink during S phase of the cell cycle, preventing chromosomal instability that is a key event in the bone marrow failure syndrome. Central to FA pathway is loss of mono-ubiquitinated forms of the Fanconi proteins FANCI and FANCD2, a process that is normally mediated by a "core complex" of seven other Fanconi proteins...
March 15, 2017: Experimental Hematology
https://www.readbyqxmd.com/read/28314577/nanotubes-the-fast-track-to-treatment-of-dent-disease
#2
Thomas E Willnow
Studies in mice have suggested bone marrow transplantation as a strategy to correct the endocytic dysfunction of the proximal tubules in renal Fanconi syndrome, yet the mode of action has remained mysterious. Using a mouse model of Dent disease, Gabriel et al. now show that rescue of the resorptive capacity in the diseased kidney involves cell-to-cell contact between engrafted and host cells via nanotubes, cellular projections that enable transfer of wild-type activity into mutant cells of the proximal tubule...
April 2017: Kidney International
https://www.readbyqxmd.com/read/28302370/the-lipid-5-phoshatase-ship2-controls-renal-brush-border-ultrastructure-and-function-by-regulating-the-activation-of-erm-proteins
#3
Sufyan G Sayyed, François Jouret, Marjorie Vermeersch, David Pérez-Morga, Stéphane Schurmans
The microvillus brush border on the renal proximal tubule epithelium allows the controlled reabsorption of solutes that are filtered through the glomerulus and thus participates in general body homeostasis. Here, using the lipid 5-phosphatase Ship2 global knockout mice, proximal tubule-specific Ship2 knockout mice, and a proximal tubule cell model in which SHIP2 is inactivated, we show that SHIP2 is a negative regulator of microvilli formation, thereby controlling solute reabsorption by the proximal tubule...
March 13, 2017: Kidney International
https://www.readbyqxmd.com/read/28288232/-tenofovir-associated-fanconi-s-syndrome-and-rickets-in-a-hiv-infected-girl
#4
Marcela Zúñiga, Armando Galindo, María Isabel Galaz, Maritza Vivanco, Patricio Romero, Paulina Balboa, Claudia Torrejón
Tenofovir (TDF) is an inhibitor of reverse transcriptase nucleotide analogue, although it has good tolerability and high anti-retroviral activity, its effect on the kidney has been a concern. OBJECTIVE: To describe a girl infected with HIV who presented Fanconi syndrome during antiretroviral therapy with TDF. CLINICAL CASE: We describe a HIV-1-infected girl, who after 18 months treatment with TDF presented loss of strength and pain of the lower extremities with functional impairment...
February 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28278342/intraretinal-crystals-in-nephopathic-cystinosis-and-fanconi-syndrome
#5
Igor Kozak, J Fernando Arevalo, Samir S Shoughy
No abstract text is available yet for this article.
March 9, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28276300/value-of-renal-biopsy-in-diagnosing-infantile-nephropathic-cystinosis-associated-with-secondary-nephrogenic-diabetes-insipidus
#6
Emily Joyce, Jacqueline Ho, Areeg El-Gharbawy, Cláudia M Salgado, Sarangarajan Ranganathan, Miguel Reyes-Múgica
Cystinosis is the most common cause of inherited renal Fanconi syndrome in young children, and typically presents with laboratory findings of a proximal tubulopathy and corneal crystals by one year of age. We describe here renal biopsy findings in a 20-month-old patient with an atypical presentation of distal renal tubular acidosis, diabetes insipidus, and the absence of corneal crystals. Although renal biopsy is usually not necessary to establish the diagnosis of cystinosis, when the patient presents with atypical signs and symptoms, a renal biopsy may be extremely valuable...
January 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28257038/establishment-of-hk-2-cells-as-a-relevant-model-to-study-tenofovir-induced-cytotoxicity
#7
Rachel A Murphy, Reagan M Stafford, Brooke A Petrasovits, Megann A Boone, Monica A Valentovic
Tenofovir (TFV) is an antiviral drug approved for treating Human Immunodeficiency Virus (HIV) and Hepatitis B. TFV is administered orally as the prodrug tenofovir disoproxil fumarate (TDF) which then is deesterified to the active drug TFV. TFV induces nephrotoxicity characterized by renal failure and Fanconi Syndrome. The mechanism of this toxicity remains unknown due to limited experimental models. This study investigated the cellular mechanism of cytotoxicity using a human renal proximal tubular epithelial cell line (HK-2)...
March 1, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28239445/maintenance-of-genome-stability-by-fanconi-anemia-proteins
#8
REVIEW
Anna Palovcak, Wenjun Liu, Fenghua Yuan, Yanbin Zhang
Persistent dysregulation of the DNA damage response and repair in cells causes genomic instability. The resulting genetic changes permit alterations in growth and proliferation observed in virtually all cancers. However, an unstable genome can serve as a double-edged sword by providing survival advantages in the ability to evade checkpoint signaling, but also creating vulnerabilities through dependency on alternative genomic maintenance factors. The Fanconi anemia pathway comprises an intricate network of DNA damage signaling and repair that are critical for protection against genomic instability...
2017: Cell & Bioscience
https://www.readbyqxmd.com/read/28221265/acute-liver-failure-during-deferasirox-chelation-a-toxicity-worth-considering
#9
Nathan Menaker, Katharine Halligan, Natasha Shur, John Paige, Matthew Hickling, Anne Nepo, Lauren Weintraub
This case report details a unique case of acute, reversible liver failure in a 12-year-old male with sickle cell anemia on chronic transfusion protocol and deferasirox chelation. There is substantial literature documenting deferasirox-induced renal injury, including Fanconi syndrome, but less documentation of hepatic toxicity and few reports of hepatic failure. The case highlights the importance of close monitoring of ferritin, bilirubin, and transaminases for patients on deferasirox.
April 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28215707/hsp90-shapes-the-consequences-of-human-genetic-variation
#10
Georgios I Karras, Song Yi, Nidhi Sahni, Máté Fischer, Jenny Xie, Marc Vidal, Alan D D'Andrea, Luke Whitesell, Susan Lindquist
HSP90 acts as a protein-folding buffer that shapes the manifestations of genetic variation in model organisms. Whether HSP90 influences the consequences of mutations in humans, potentially modifying the clinical course of genetic diseases, remains unknown. By mining data for >1,500 disease-causing mutants, we found a strong correlation between reduced phenotypic severity and a dominant (HSP90 ≥ HSP70) increase in mutant engagement by HSP90. Examining the cancer predisposition syndrome Fanconi anemia in depth revealed that mutant FANCA proteins engaged predominantly by HSP70 had severely compromised function...
February 23, 2017: Cell
https://www.readbyqxmd.com/read/28212262/molecular-cytogenetic-approach-to-characterize-novel-and-cryptic-chromosome-abnormalities-in-childhood-myeloid-malignances-of-fanconi-anemia
#11
Maria L R Borges, Roberto R Capela de Matos, Bethânia D A Silva Amaral, Eliane M Soares-Ventura, Edinalva P Leite, Mariluze O D Silva, Maria T M Nogueira Cornélio, Maria L M Silva, Thomas Liehr, Terezinha D J Marques-Salles
Myeloid malignancies can be either primary or secondary, whether or not a specific cause can be determined. Fanconi anemia (FA), a rare constitutional bone marrow failure, usually presents an increased possibility of clonal evolution, due to the increase in chromosomal instability, TP53 activation, and cell death. The evolution of FA may include aplastic anemia by the progressive failure of the bone marrow and myelod neoplasias, such as acute myeloid leukemia and myelodysplastic syndrome. Chromosome abnormalities, particularly of chromosomes, 1, 3, and 7, during the aplastic phase of the disease are predictive of evolution to acute myeloid leukemia/myelodysplastic syndrome...
March 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28211564/the-genomics-of-inherited-bone-marrow-failure-from-mechanism-to-the-clinic
#12
REVIEW
Talia Wegman-Ostrosky, Sharon A Savage
The inherited bone marrow failure syndromes (IBMFS) typically present with significant cytopenias in at least one haematopoietic cell lineage that may progress to pancytopenia, and are associated with increased risk of cancer. Although the clinical features of the IBMFS are often diagnostic, variable disease penetrance and expressivity may result in diagnostic dilemmas. The discovery of the genetic aetiology of the IBMFS has been greatly facilitated by next-generation sequencing methods. This has advanced understanding of the underlying biology of the IBMFS and been essential in improving clinical management and genetic counselling for affected patients...
February 17, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28198397/cystinosis-ctns-zebrafish-mutant-shows-pronephric-glomerular-and-tubular-dysfunction
#13
Mohamed A Elmonem, Ramzi Khalil, Ladan Khodaparast, Laleh Khodaparast, Fanny O Arcolino, Joseph Morgan, Anna Pastore, Przemko Tylzanowski, Annelii Ny, Martin Lowe, Peter A de Witte, Hans J Baelde, Lambertus P van den Heuvel, Elena Levtchenko
The human ubiquitous protein cystinosin is responsible for transporting the disulphide amino acid cystine from the lysosomal compartment into the cytosol. In humans, Pathogenic mutations of CTNS lead to defective cystinosin function, intralysosomal cystine accumulation and the development of cystinosis. Kidneys are initially affected with generalized proximal tubular dysfunction (renal Fanconi syndrome), then the disease rapidly affects glomeruli and progresses towards end stage renal failure and multiple organ dysfunction...
February 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28192889/effects-of-aristolochic-acid-i-and-or-hypokalemia-on-tubular-damage-in-c57bl-6-rat-with-aristolochic-acid-nephropathy
#14
Joo-Hark Yi, Sang-Woong Han, Wan-Young Kim, Jin Kim, Moon-Hyang Park
Background/Aims: This study was designed to investigate the roles of aristolochic acid I (AA-I) and hypokalemia in acute aristolochic acid nephropathy (AAN). Methods: After an adaptation period (1 week), a total of 40 C57BL/6 mice (male, 8 weeks old) were divided into four groups: I (control group), II (low potassium [K] diet), III (normal K diet with administration of AA-I [10 mg/kg weight]), and IV (low K diet with AA-I). After collecting 24 hours of urine at 2 weeks, the mice were sacrificed, and their blood and kidneys were obtained to perform immunochemical staining and/or Western blot analysis...
February 15, 2017: Korean Journal of Internal Medicine
https://www.readbyqxmd.com/read/28188436/clinical-and-molecular-aspects-of-distal-renal-tubular-acidosis-in-children
#15
Martine T P Besouw, Marc Bienias, Patrick Walsh, Robert Kleta, William G Van't Hoff, Emma Ashton, Lucy Jenkins, Detlef Bockenhauer
BACKGROUND: Distal renal tubular acidosis (dRTA) is characterized by hyperchloraemic metabolic acidosis, hypokalaemia, hypercalciuria and nephrocalcinosis. It is due to reduced urinary acidification by the α-intercalated cells in the collecting duct and can be caused by mutations in genes that encode subunits of the vacuolar H(+)-ATPase (ATP6V1B1, ATP6V0A4) or the anion exchanger 1 (SLC4A1). Treatment with alkali is the mainstay of therapy. METHODS: This study is an analysis of clinical data from a long-term follow-up of 24 children with dRTA in a single centre, including a genetic analysis...
February 10, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28184344/a-case-of-acute-tubulointerstitial-nephritis-associated-with-rifampin-therapy-presenting-as-fanconi-like-syndrome
#16
Jun Tae Park, Sik Lee, Won Kim, Sung Kwang Park, Kyung Pyo Kang
No abstract text is available yet for this article.
January 2017: Chonnam Medical Journal
https://www.readbyqxmd.com/read/28179273/radiation-free-alternative-donor-hct-for-fanconi-anemia-patients-results-from-a-prospective-multi-institutional-study
#17
Parinda A Mehta, Stella M Davies, Thomas Leemhuis, Kasiani Myers, Nancy A Kernan, Susan E Prockop, Andromachi Scaradavou, Richard J O'Reilly, David A Williams, Leslie Lehmann, Eva Guinan, David Margolis, K Scott Baker, Adam Lane, Farid Boulad
Fanconi anemia (FA) is an inherited bone marrow failure syndrome characterized by chromosomal fragility, progressive marrow failure and cancer predisposition. Hematopoietic cell transplantation (HCT) is curative for FA-related marrow failure or leukemia, but both radiation exposure during transplant and graft-versus host disease (GVHD) may increase risk of later malignancies of the head and neck and anogenital area. In this study we tested a radiation-free conditioning regimen with a T-cell depleted graft to eliminate radiation exposure and minimize early as well as late toxicities of transplant...
February 8, 2017: Blood
https://www.readbyqxmd.com/read/28179096/long-term-efficacy-and-safety-of-switching-from-lamivudine-adefovir-to-tenofovir-disoproxil-fumarate-in-virologically-suppressed-patients
#18
Massimo Fasano, Paolo Maggi, Armando Leone, Anna Volpe, Jose Ramon Fiore, Gioacchino Angarano, Teresa Antonia Santantonio
BACKGROUND AND AIM: Tenofovir disoproxil fumarate (TDF) is recommended as first-line monotherapy for nucleos(t)ide (NA)-naïve chronic hepatitis B (CHB) patients and as a second-line rescue therapy for NA-experienced patients with a previous treatment failure. However, data regarding the efficacy of TDF monotherapy in patients with lamivudine resistance (LAM-R) successfully treated with LAM+adefovir (ADV) are limited. Herein, the efficacy and safety of switching from LAM+ADV to TDF monotherapy in clinical practice have been evaluated...
January 16, 2017: Digestive and Liver Disease
https://www.readbyqxmd.com/read/28174693/fanconi-anemia-protein-fancd2-is-activated-by-aicar-a-modulator-of-ampk-and-cellular-energy-metabolism
#19
Min Jeong Chun, Hana Choi, Dong Wha Jun, Sunshin Kim, Yong-Nyun Kim, Soo-Youl Kim, Chang-Hun Lee
FANCD2 is a pivotal molecule in the pathogenesis of Fanconi anemia (FA), an autosomal recessive human syndrome with diverse clinical phenotypes, including cancer predisposition, short stature, and hematological abnormalities. In our previous study, we detected the functional association of FANC proteins, whose mutations are responsible for the onset of FA, with AMPK in response to DNA interstrand crosslinking lesions. Because AMPK is well known as a critical sensing molecule for cellular energy levels, we checked whether FANCD2 activation occurs after treatments affecting AMPK and/or cellular energy status...
February 2017: FEBS Open Bio
https://www.readbyqxmd.com/read/28141910/the-mechanism-of-valproic-acid-induced-fanconi-syndrome-involves-mitochondrial-dysfunction-and-oxidative-stress-in-rat-kidney
#20
Reza Heidari, Faezeh Jafari, Forouzan Khodaei, Babak Shirazi Yeganeh, Hossein Niknahad
AIM: Drug-induced kidney proximal tubular injury and renal failure (Fanconi syndrome; FS) is a clinical complication. Valproic acid (VPA) is among the FS-inducing drugs. The current investigation was designed to evaluate the role of mitochondrial dysfunction and oxidative stress in VPA-induced renal injury. METHODS: Animals received VPA (250 and 500 mg/kg, i.p., 15 consecutive days). Serum biomarkers of kidney injury and markers of oxidative stress were assessed...
January 31, 2017: Nephrology
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