keyword
MENU ▼
Read by QxMD icon Read
search

Fanconi

keyword
https://www.readbyqxmd.com/read/29452344/overexpression-of-blm-promotes-dna-damage-and-increased-sensitivity-to-platinum-salts-in-triple-negative-breast-and-serous-ovarian-cancers
#1
N J Birkbak, Y Li, S Pathania, A Greene-Colozzi, M Dreze, C Bowman-Colin, Z Sztupinszki, M Krzystanek, M Diossy, N Tung, P D Ryan, J E Garber, D P Silver, J D Iglehart, Z C Wang, D Szuts, Z Szallasi, A L Richardson
Background: Platinum based therapy is an effective treatment for a subset of triple negative breast cancer and ovarian cancer patients. In order to increase response rate and decrease unnecessary use, robust biomarkers that predict response to therapy are needed. Patients and methods: We performed an integrated genomic approach combining differential analysis of gene expression and DNA copy number in sensitive compared to resistant triple negative breast cancers in two independent neoadjuvant cisplatin treated cohorts...
February 14, 2018: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29446030/slow-progression-of-renal-failure-in-a-child-with-infantile-cystinosis
#2
Maria Bitsori, Eleni Vergadi, Emmanouil Galanakis
Cystinosis is a rare autosomal recessive lysosomal transport disorder, characterized by the accumulation of the aminoacid cystine and progressive dysfunction of several organs. Kidneys are severely affected, and the most frequent form, infantile nephropathic cystinosis, presents with growth failure in infancy, renal Fanconi syndrome and end-stage renal disease by the first decade of life. We report of a girl with infantile nephropathic cystinosis that has reached adolescence without the need of renal replacement therapy and without extrarenal manifestations despite her delayed diagnosis and treatment initiation...
February 14, 2018: CEN Case Reports
https://www.readbyqxmd.com/read/29435075/-brca1-homozygous-unclassified-variant-in-a-patient-with-non-fanconi-anemia-a-case-report
#3
Bondavalli Davide, Malvestiti Francesca, Pensotti Valeria, Feroce Irene, Bonanni Bernardo
The present case report discusses a woman affected by chronic lymphatic leukemia and breast cancer with a familial history of breast cancer; suspected to be hereditary breast and ovarian cancer (HBOC) syndrome. The patient underwent BRCA1 and BRCA2 genetic testing. Sequencing of BRCA1 revealed the presence of the variant of unknown significance (VUS) c.3082C>T (p.Arg1028Cys) at homozygous state, whereas no mutations were detected in BRCA2 . Multiplex ligation-dependent probe amplification confirmed the presence of two alleles...
March 2018: Oncology Letters
https://www.readbyqxmd.com/read/29427520/comprehensive-review-of-genetic-factors-contributing-to-head-and-neck-squamous-cell-carcinoma-development-in-low-risk-nontraditional-patients
#4
Morgan A Gingerich, Joshua D Smith, Nicole L Michmerhuizen, Megan Ludwig, Samantha Devenport, Chloe Matovina, Chad Brenner, Steven B Chinn
BACKGROUND: The past 2 decades have seen an increased incidence of head and neck squamous cell carcinoma (HNSCC) in a nontraditional, low-risk patient population (ie, ≤45 years of age, no substance use history), owing to a combination of human papillomavirus (HPV) infection and individual genetic variation. METHODS: Articles positing genetic variants as contributing factors in HNSCC incidence in low-risk, nontraditional patients were identified using a PubMed search, reviewed in detail, and concisely summarized herein...
February 10, 2018: Head & Neck
https://www.readbyqxmd.com/read/29427417/-tp53-haploinsufficiency-rescues-emergency-granulopoiesis-in-fancc-mice
#5
Liping Hu, Weiqi Huang, Ling Bei, Larisa Broglie, Elizabeth A Eklund
Emergency (stress) granulopoiesis is an episodic process for the production of granulocytes in response to infectious challenge. We previously determined that Fanconi C, a component of the Fanconi DNA-repair pathway, is necessary for successful emergency granulopoiesis. Fanconi anemia results from mutation of any gene in this pathway and is characterized by bone marrow failure (BMF) in childhood and clonal progression in adolescence. Although murine Fanconi anemia models exhibit relatively normal steady-state hematopoiesis, FANCC -/-mice are unable to mount an emergency granulopoiesis response...
February 2, 2018: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29423082/reduced-recruitment-of-53bp1-during-interstrand-crosslink-repair-is-associated-with-genetically-inherited-attenuation-of-mitomycin-c-sensitivity-in-a-family-with-fanconi-anemia
#6
Emilie Lesport, Alina Ferster, Armand Biver, Benoit Roch, Nadia Vasquez, Nada Jabado, Francina Langa Vives, Patrick Revy, Jean Soulier, Jean-Pierre de Villartay
The Fanconi anemia (FA) pathway is implicated in the repair of DNA interstrand crosslinks (ICL). In this process, it has been shown that FA factors regulate the choice for DNA double strand break repair towards homologous recombination (HR). As this mechanism is impaired in FA deficient cells exposed to crosslinking agents, an inappropriate usage of non-homologous end joining (NHEJ) leads to the accumulation of toxic chromosomal abnormalities. We studied a family with two FANCG patients and found a genetically inherited attenuation of mitomycin C sensitivity resulting in-vitro in an attenuated phenotype for one patient or in increased resistance for two healthy relatives...
January 9, 2018: Oncotarget
https://www.readbyqxmd.com/read/29421779/nephropathic-cystinosis-mimicking-bartter-syndrome-a-novel-mutation
#7
Funda Bastug, Hulya Nalcacioglu, Fatih Ozaltin, Emine Korkmaz, Sibel Yel
Cystinosis is a rare autosomal recessive disorder resulting from defective lysosomal transport of cystine due to mutations in the cystinosin lysosomal cystine transporter (CTNS) gene. The clinical phenotype of nephropathic cystinosis is characterized by renal tubular Fanconi syndrome and development of end-stage renal disease during the first decade. Although metabolic acidosis is the classically prominent finding of the disease, a few cases may present with hypokalemic metabolic alkalosis mimicking Bartter syndrome...
January 2018: Iranian Journal of Kidney Diseases
https://www.readbyqxmd.com/read/29416752/fanconi-anemia-germline-variants-as-susceptibility-factors-in-aplastic-anemia-mds-and-aml
#8
Bartlomiej Przychodzen, Hideki Makishima, Mikkael A Sekeres, Suresh Kumar Balasubramanian, Swapna Thota, Bhumika J Patel, Michael Clemente, Cassandra Hirsch, Brittney Dienes, Jaroslaw P Maciejewski
Using next generation sequencing we have systematically analyzed a large cohort of 489 patients with bone marrow failure (BMF), including myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), aplastic anemia (AA), and related conditions for the presence of germline (GL) alterations in Fanconi Anemia (FA) and telomerase genes. We have detected an increased frequency of heterozygous FA gene mutations in MDS and to lesser degree in AML suggesting that the presence of one normal allele may not be completely protective and indeed heterozygous FA lesions may have a long latency period before hematologic manifestation...
January 5, 2018: Oncotarget
https://www.readbyqxmd.com/read/29403087/cerebellar-ataxia-dominant-phenotype-in-patients-with-ercc4-mutations
#9
Hiroshi Doi, Shigeru Koyano, Satoko Miyatake, Shinji Nakajima, Yuka Nakazawa, Misako Kunii, Atsuko Tomita-Katsumoto, Kayoko Oda, Yukie Yamaguchi, Ryoko Fukai, Shingo Ikeda, Rumiko Kato, Katsuhisa Ogata, Shun Kubota, Noriko Hayashi, Keita Takahashi, Mikiko Tada, Kenichi Tanaka, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Tomoo Ogi, Michiko Aihara, Hideyuki Takeuchi, Naomichi Matsumoto, Fumiaki Tanaka
Autosomal recessive cerebellar ataxias (ARCAs) are clinically and genetically heterogeneous neurological disorders. Through whole-exome sequencing of Japanese ARCA patients, we identified three index patients from unrelated families who had biallelic mutations in ERCC4. ERCC4 mutations have been known to cause xeroderma pigmentosum complementation group F (XP-F), Cockayne syndrome, and Fanconi anemia phenotypes. All of the patients described here showed very slowly progressive cerebellar ataxia and cognitive decline with choreiform involuntary movement, with young adolescent or midlife onset...
February 5, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29400309/novel-founder-mutation-in-fanca-gene-c-3446_3449dupccct-among-romani-patients-from-the-balkan-region
#10
Marija Dimishkovska, Vjosa Mulliqi Kotori, Zoran Gucev, Svetlana Kocheva, Momir Polenakovic, Dijana Plaseska-Karanfilska
BACKGROUND: Fanconi anemia is a rare autosomal recessive or X-linked disorder characterised by clinical and genetic heterogeneity. Most fanconi anemia patients harbour homozygous or double heterozygous mutations in the FANCA (60-65%), FANCC (10-15%), FANCG (~10%) or FANCD2 (3-6%) genes. We have already reported the FANCA variant c.190-256_283+1680del2040dupC as a founder mutation among Macedonian fanconi anemia patients of Gypsy-like ethnic origin. Here, we present a novel FANCA mutation in two patients from Macedonia and Kosovo...
January 20, 2018: Balkan Medical Journal
https://www.readbyqxmd.com/read/29399572/hypophosphatemic-osteomalacia-with-multiple-bone-fractures-adv-induced-fanconi-s-syndrome
#11
Jee Hyuk Kim, Heung Yong Jin, Hong Sun Baek, Kyung Ae Lee
No abstract text is available yet for this article.
January 2018: Chonnam Medical Journal
https://www.readbyqxmd.com/read/29399332/recent-advances-in-understanding-hematopoiesis-in-fanconi-anemia
#12
REVIEW
Grover Bagby
Fanconi anemia is an inherited disease characterized by genomic instability, hypersensitivity to DNA cross-linking agents, bone marrow failure, short stature, skeletal abnormalities, and a high relative risk of myeloid leukemia and epithelial malignancies. The 21 Fanconi anemia genes encode proteins involved in multiple nuclear biochemical pathways that effect DNA interstrand crosslink repair. In the past, bone marrow failure was attributed solely to the failure of stem cells to repair DNA. Recently, non-canonical functions of many of the Fanconi anemia proteins have been described, including modulating responses to oxidative stress, viral infection, and inflammation as well as facilitating mitophagic responses and enhancing signals that promote stem cell function and survival...
2018: F1000Research
https://www.readbyqxmd.com/read/29396562/cytochrome-c-oxidase-deficiency-oxidative-stress-possible-antioxidant-therapy-and-link-to-nuclear-dna-damage
#13
Liza Douiev, Bassam Abu-Libdeh, Ann Saada
In response to Ravera et al. "Fanconi anemia: from DNA repair to metabolism" commenting on our recent publication by Abu-Libdeh, Douiev et al., describing a pathogenic variant in the COX 4I1 gene simulating Fanconi anemia, we wish to add supplementary, pertinent information linking cytochrome c oxidase (COX, mitochondrial respiratory chain complex IV) dysfunction to oxidative stress and nuclear DNA damage. Elevated production of reactive oxygen species (ROS) in COX 4I1 deficient fibroblasts was detected in cells grown in glucose free medium and normalized by ascorbate or N-acetylcysteine supplementation...
February 2, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29395620/high-throughput-gene-sequencing-reveals-altered-landscape-in-dna-damage-responses-and-chromatin-remodeling-in-sporadic-pancreatic-neuroendocrine-tumors
#14
Shunrong Ji, Wenting Yang, Jiang Liu, Jingjing Zhao, Liang Chen, Quanxing Ni, Jiang Long, Xianjun Yu
PURPOSE: The main objectives of this retrospective study were to survey the genetic landscape of PNETs in a clinical cohort by using the high throughput gene sequencing method and to determine cellular signaling networks affected by the uncovered gene mutations. MATERIALS AND METHODS: We retrieved the demographics and tumor characteristics of 13 patients. Cellular DNA was extracted from fresh snap frozen tumor tissues and was subject to high throughput gene sequencing analysis using the Illumina NextSeq500 System...
January 30, 2018: Pancreatology: Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]
https://www.readbyqxmd.com/read/29394375/replication-stress-induces-accumulation-of-fancd2-at-central-region-of-large-fragile-genes
#15
Yusuke Okamoto, Watal M Iwasaki, Kazuto Kugou, Kazuki K Takahashi, Arisa Oda, Koichi Sato, Wataru Kobayashi, Hidehiko Kawai, Ryo Sakasai, Akifumi Takaori-Kondo, Takashi Yamamoto, Masato T Kanemaki, Masato Taoka, Toshiaki Isobe, Hitoshi Kurumizaka, Hideki Innan, Kunihiro Ohta, Masamichi Ishiai, Minoru Takata
During mild replication stress provoked by low dose aphidicolin (APH) treatment, the key Fanconi anemia protein FANCD2 accumulates on common fragile sites, observed as sister foci, and protects genome stability. To gain further insights into FANCD2 function and its regulatory mechanisms, we examined the genome-wide chromatin localization of FANCD2 in this setting by ChIP-seq analysis. We found that FANCD2 mostly accumulates in the central regions of a set of large transcribed genes that were extensively overlapped with known CFS...
January 31, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29389832/treatment-with-azacitidine-in-the-context-of-palliative-care-for-a-patient-with-acute-myeloid-leukemia-complicating-fanconi-anemia-with-biallelic-fancd1-brca-2-mutations
#16
Aurélie Berot, Claire Pluchart
No abstract text is available yet for this article.
January 31, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29388117/correlation-of-fancm-expression-with-clinical-factors-in-luminal-b-breast-cancer
#17
Yiran Wang, Junnan Wang, Fei Long, Ning Wang, Bingbing Zhang, Huan Han, Yajie Wang
BACKGROUND: The genotype of Fanconi Anemia complementation group M (FANCM) was previously found to be associated with breast cancer risk in several populations. Here, we studied the expression of FANCM and its correlation with clinical characteristics in Chinese patients with breast cancer. METHODS: We performed an immunohistochemical study of FANCM protein in clinical breast cancer tissues from 310 patients along with 44 adjacent tissues. RESULTS: FANCM protein level is lower in triple-negative breast cancer tissues than in other subtypes (P = 0...
January 31, 2018: Breast Cancer: the Journal of the Japanese Breast Cancer Society
https://www.readbyqxmd.com/read/29382715/stat3-and-ccaat-enhancer-binding-protein-%C3%AE-c-ebp%C3%AE-activate-fanconi-c-gene-transcription-during-emergency-granulopoiesis
#18
Chirag A Shah, Larisa Broglie, Liping Hu, Ling Bei, Weiqi Huang, Danielle B Dressler, Elizabeth A Eklund
Interferon consensus sequence-binding protein (Icsbp) is required for terminating emergency granulopoiesis, an episodic event responsible for granulocyte production in response to infections and a key component of the innate immune response. Icsbp inhibits expression of Stat3 and C/ebpβ, transcription factors essential for initiating and sustaining granulopoiesis, and activates transcription of Fanconi C (FANCC); a DNA repair protein. In prior studies, we noted accelerated bone marrow failure in Fancc-/- mice undergoing multiple episodes of emergency granulopoiesis, associated with apoptosis of bone marrow cells with unrepaired DNA damage...
January 30, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29377497/reduced-cell-division-control-protein-42-activity-compromises-hematopoiesis-supportive-function-of-fanconi-anemia-mesenchymal-stromal-cells
#19
Jian Xu, Xue Li, Allison Cole, Zachary Sherman, Wei Du
Hematopoietic stem cells preserve their ability to self-renew and differentiate to different lineages in the bone marrow (BM) niche, which is composed in large part by BM stromal cells. Studies have shown that altered signaling in the BM niche results in leukemia initiation or progression. Fanconi anemia (FA) is an inherited BM failure syndrome associated with extremely high risk of leukemic transformation. By using two FA mouse models, here we have investigated the hematopoiesis-supportive function of FA BM mesenchymal stroma cells (MSCs)...
January 27, 2018: Stem Cells
https://www.readbyqxmd.com/read/29376519/fanconi-anaemia-and-cancer-an-intricate-relationship
#20
REVIEW
Grzegorz Nalepa, D Wade Clapp
Fanconi anaemia (FA) is a genetic disorder that is characterized by bone marrow failure (BMF), developmental abnormalities and predisposition to cancer. Together with other proteins involved in DNA repair processes and cell division, the FA proteins maintain genome homeostasis, and germline mutation of any one of the genes that encode FA proteins causes FA. Monoallelic inactivation of some FA genes, such as FA complementation group D1 (FANCD1; also known as the breast and ovarian cancer susceptibility gene BRCA2), leads to adult-onset cancer predisposition but does not cause FA, and somatic mutations in FA genes occur in cancers in the general population...
January 29, 2018: Nature Reviews. Cancer
keyword
keyword
14246
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"