keyword
MENU ▼
Read by QxMD icon Read
search

Fanconi

keyword
https://www.readbyqxmd.com/read/29928579/augmentation-of-the-therapeutic-efficacy-of-wee1-kinase-inhibitor-azd1775-by-inhibiting-the-yap-e2f1-dna-damage-response-pathway-axis
#1
Yusuke Oku, Naoyuki Nishiya, Takaaki Tazawa, Takaya Kobayashi, Nanami Umezawa, Yasuyo Sugawara, Yoshimasa Uehara
The main reasons for failure of cancer chemotherapy are intrinsic and acquired drug resistance. The Hippo pathway effector Yes-associated protein (YAP) is associated with resistance to both cytotoxic and molecular targeted drugs. Several lines of evidence indicate that YAP activates transcriptional programmes to promote cell cycle progression and DNA damage responses. Therefore, we hypothesised that YAP is involved in the sensitivity of cancer cells to small-molecule agents targeting cell cycle-related proteins...
June 2018: FEBS Open Bio
https://www.readbyqxmd.com/read/29924459/clinical-biochemical-and-pathophysiological-analysis-of-slc34a1-mutations
#2
Amy Fearn, Benjamin Allison, Sarah J Rice, Noel Edwards, Jan Halbritter, Soline Bourgeois, Eva M Pastor-Arroyo, Friedhelm Hildebrandt, Velibor Tasic, Carsten A Wagner, Nati Hernando, John A Sayer, Andreas Werner
Mutations in SLC34A1, encoding the proximal tubular sodium-phosphate transporter NaPi-IIa, may cause a range of clinical phenotypes including infantile hypercalcemia, a proximal renal Fanconi syndrome, which are typically autosomal recessive, and hypophosphatemic nephrolithiasis, which may be an autosomal dominant trait. Here, we report two patients with mixed clinical phenotypes, both with metabolic acidosis, hyperphosphaturia, and renal stones. Patient A had a single heterozygous pathogenic missense mutation (p...
June 2018: Physiological Reports
https://www.readbyqxmd.com/read/29907598/clinical-response-of-the-novel-activating-alk-i1171t-mutation-in-neuroblastoma-to-the-alk-inhibitor-ceritinib
#3
Jikui Guan, Susanne Fransson, Joachim Tetteh T Siaw, Diana Treis, Jimmy Van den Eynden, Damini Chand, Ganesh Umapathy, Petter Svenberg, Kristina Ruuth, Sandra Wessman, Alia Shamikh, Hans Jacobsson, Lena Gordon, Jakob Stenman, Erik Larsson, Par-Johan Svensson, Magnus Hansson, Tommy Martinsson, Per Kogner, Ruth H Palmer, Bengt Hallberg
Tumors with Anaplastic Lymphoma Kinase (ALK) fusion rearrangements, including non-small cell lung cancer and anaplastic large cell lymphoma, are highly sensitive to ALK tyrosine kinase inhibitors (TKIs), underscoring the notion that such cancers are addicted to ALK activity. While mutations in ALK are heavily implicated in childhood neuroblastoma, response to the ALK TKI crizotinib has been disappointing. Embryonal tumors in patients with DNA repair defects such as Fanconi anemia (FA) often have a poor prognosis, due to lack of therapeutic options...
June 15, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29907094/severe-renal-fanconi-and-management-strategies-in-arthrogryposis-renal-dysfunction-cholestasis-syndrome-a-case-report
#4
Alejandra Rosales, Maissa Mhibik, Paul Gissen, Oscar Segarra, Susana Redecillas, Gema Ariceta
BACKGROUND: Arthrogryposis-Renal dysfunction-Cholestasis syndrome (ARC, MIM#208085) is a rare multisystem disease due to mutations in the VPS33B and VIPAR genes, both involved in maintaining apical-basolateral cell polarity. The correlation between mutations and phenotype in the ARC Syndrome is not well described. We report on a 6 year old patient who presented with severe renal Fanconi as first manifestation of ARC related to a combined de novo mutation in the VPS33B gene. CASE PRESENTATION: A 6 year old girl presented during the first year of life with severe renal Fanconi as the first manifestation of ARC-Syndrome...
June 15, 2018: BMC Nephrology
https://www.readbyqxmd.com/read/29905968/skeletal-consequences-of-nephropathic-cystinosis
#5
Pablo Florenzano, Carlos Ferreira, Galina Nesterova, Mary Scott Ramnitz, Sri Harsha Tella, Luis Fernandez de Castro, Sydney M Brown, Adom Whitaker, Renata C Pereira, Dorothy Bulas, Rachel I Gafni, Isidro B Salusky, William A Gahl, Michael T Collins
Nephropathic cystinosis is a rare lysosomal storage disorder. Patients present in the first year of life with renal Fanconi syndrome that evolves to progressive chronic kidney disease (CKD). Despite the multiple risk factors for bone disease, the frequency and severity of skeletal disorders in nephropathic cystinosis have not been described. We performed systematic bone and mineral evaluations of subjects with cystinosis seen at the NIH (N = 30), including history and physical examination, serum and urine biochemistries, DXA, vertebral fracture assessment, skeletal radiographs, and renal ultrasound...
June 15, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29904418/acquired-hypophosphatemic-osteomalacia-is-easily-misdiagnosed-or-neglected-by-rheumatologists-a-report-of-9-cases
#6
Ling Li, Shu-Xia Wang, Hong-Mei Wu, Dong-Lan Luo, Guang-Fu Dong, Yuan Feng, Xiao Zhang
The aim of the present study was to assist rheumatologists in differentiating hypophosphatemic osteomalacia (HO) from mimic rheumatology diseases. Clinical data was obtained from 9 patients with acquired HO, initially misdiagnosed as mimic rheumatologic diseases. The data were retrospectively analyzed and a literature review was performed. The etiology of the cases was as follows: Adefovir dipivoxil-induced Fanconi syndrome was present in 6 of the cases, 2 were tumors and 1 case was chronic nephropathy. The chief complaint was thoracic or back pain and arthralgia, followed by progressive muscle weakness and dramatic movement limitation...
June 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29904161/from-exome-analysis-in-idiopathic-azoospermia-to-the-identification-of-a-high-risk-subgroup-for-occult-fanconi-anemia
#7
Csilla Krausz, Antoni Riera-Escamilla, Chiara Chianese, Daniel Moreno-Mendoza, Elisabet Ars, Osvaldo Rajmil, Roser Pujol, Massimo Bogliolo, Ignacio Blanco, Ines Rodríguez, Isabel Badell, Eduard Ruiz-Castañé, Jordi Surrallés
PURPOSE: In about 10% of patients affected by Fanconi anemia (FA) the diagnosis is delayed until adulthood, and the presenting symptom in these "occult" FA cases is often a solid cancer and cancer treatment-related toxicity. Highly predictive clinical parameter(s) for diagnosing such an adult-onset cases are missing. METHODS: (1) Exome sequencing (ES), (2) Sanger sequencing of FANCA, (3) diepoxybutane (DEB)-induced chromosome breakage test. RESULTS: ES identified a pathogenic homozygous FANCA variant in a patient affected by Sertoli cell-only syndrome (SCOS) and in his azoospermic brother...
June 14, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29901142/targeted-resequencing-of-phosphorus-metabolism%C3%A2-related-genes-in-86-patients-with-hypophosphatemic-rickets-osteomalacia
#8
Jiemei Gu, Chun Wang, Hao Zhang, Hua Yue, Weiwei Hu, Jinwei He, Wenzhen Fu, Zhenlin Zhang
Hypophosphatemic rickets/osteomalacia is characterized by defective renal phosphate reabsorption and abnormal bone mineralization. Hypophosphatemic rickets/osteomalacia consists of inherited and acquired forms, many of which have unknown aetiology. In the present study, next‑generation sequencing‑based resequencing was used on samples from Chinese subjects with hypophosphatemic rickets/osteomalacia, aiming to detect the spectrum of pathogenic genes in these patients. A total of 86 hypophosphatemic rickets/osteomalacia patients (ranging from 3 to 70 years old) were recruited...
June 13, 2018: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/29901137/fanconi-anemia-complementation-group-c-protection-against-oxidative-stress%C3%A2-induced-%C3%AE-%C3%A2-cell-apoptosis
#9
Sirikul Kulanuwat, Prapaporn Jungtrakoon, Watip Tangjittipokin, Pa-Thai Yenchitsomanus, Nattachet Plengvidhya
Diabetes mellitus (DM) and other glucose metabolism abnormalities are commonly observed in individuals with Fanconi anemia (FA). FA causes an impaired response to DNA damage due to genetic defects in a cluster of genes encoded proteins involved in DNA repair. However, the mechanism by which FA is associated with DM has not been clearly elucidated. Fanconi anemia complementation group C (FANCC) is a component of FA nuclear clusters. Evidence suggests that cytoplasmic FANCC has a role in protection against oxidative stress‑induced apoptosis...
June 14, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29895858/a-homozygous-fancm-frameshift-pathogenic-variant-causes-male-infertility
#10
Hao Yin, Hui Ma, Sajjad Hussain, Huan Zhang, Xuefeng Xie, Long Jiang, Xiaohua Jiang, Furhan Iqbal, Ihtisham Bukhari, Hanwei Jiang, Asim Ali, Liangwen Zhong, Tao Li, Suixing Fan, Beibei Zhang, Jianing Gao, Yang Li, Jabeen Nazish, Teka Khan, Manan Khan, Muhammad Zubair, Qiaomei Hao, Hui Fang, Jun Huang, Mahmoud Huleihel, Jiahao Sha, Tej K Pandita, Yuanwei Zhang, Qinghua Shi
PURPOSE: Fanconi anemia (FA) genes play important roles in spermatogenesis. In mice, disruption of Fancm impairs male fertility and testicular integrity, but whether FANCM pathogenic variants (PV) similarly affect fertility in men is unknown. Here we characterize a Pakistani family having three infertile brothers, two manifesting oligoasthenospermia and one exhibiting azoospermia, born to first-cousin parents. A homozygous PV in FANCM (c.1946_1958del, p.P648Lfs*16) was found cosegregating with male infertility...
June 12, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29891926/map-of-synthetic-rescue-interactions-for-the-fanconi-anemia-dna-repair-pathway-identifies-usp48
#11
Georgia Velimezi, Lydia Robinson-Garcia, Francisco Muñoz-Martínez, Wouter W Wiegant, Joana Ferreira da Silva, Michel Owusu, Martin Moder, Marc Wiedner, Sara Brin Rosenthal, Kathleen M Fisch, Jason Moffat, Jörg Menche, Haico van Attikum, Stephen P Jackson, Joanna I Loizou
Defects in DNA repair can cause various genetic diseases with severe pathological phenotypes. Fanconi anemia (FA) is a rare disease characterized by bone marrow failure, developmental abnormalities, and increased cancer risk that is caused by defective repair of DNA interstrand crosslinks (ICLs). Here, we identify the deubiquitylating enzyme USP48 as synthetic viable for FA-gene deficiencies by performing genome-wide loss-of-function screens across a panel of human haploid isogenic FA-defective cells (FANCA, FANCC, FANCG, FANCI, FANCD2)...
June 11, 2018: Nature Communications
https://www.readbyqxmd.com/read/29886046/the-pathomechanism-of-cytochrome-c-oxidase-deficiency-includes-nuclear-dna-damage
#12
Liza Douiev, Ann Saada
Mitochondrial cytochrome c oxidase (COX, respiratory chain complex IV), contributes to ATP production via oxidative phosphorylation (OXPHOS). Clinical presentation of COX deficiency is heterogeneous ranging from mild to severe neuromuscular diseases. Anemia is among the symptoms and we have previously reported Fanconi anemia like features in COX4-1 deficiency, suggesting genomic instability and our preliminary results detected nuclear double stranded DNA breaks (DSB). We now quantified the DSB by phospho histone H2AX Ser139 staining of COX4-1 and COX6B1 deficient fibroblasts (225% and 215% of normal, respectively) and confirmed their occurrence by neutral comet assay...
June 7, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29879518/chromosomal-aberrations-and-survival-after-unrelated-donor-hematopoietic-stem-cell-transplant-in-patients-with-fanconi-anemia
#13
Youjin Wang, Weiyin Zhou, Blanche P Alter, Tao Wang, Stephen R Spellman, Michael Haagenson, Meredith Yeager, Stephanie J Lee, Stephen J Chanock, Sharon A Savage, Shahinaz M Gadalla
Studies of chromosomal aberrations in blood or bone marrow of patients with Fanconi anemia (FA) have focused on their associations with leukemic transformation. The role of such abnormalities on outcomes after hematopoietic cell transplantation (HCT) is unclear. We used genome-wide single nucleotide polymorphism (SNP) arrays to identify chromosomal aberrations in pre-HCT blood samples from 73 patients with FA who received unrelated donor HCT for severe aplastic anemia between 1991-2007. Outcome data and blood samples were available through the Center for International Blood and Marrow Transplant Research...
June 4, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29877286/legionella-pneumonia-complicated-with-acquired-fanconi-syndrome-a-case-report
#14
Ryo Koda, Ryo Itoh, Masafumi Tsuchida, Kazumasa Ohashi, Noriaki Iino, Toshinori Takada, Ichiei Narita
Legionella pneumonia is occasionally accompanied by renal complications; however, the cause of this remains unknown. We herein report a 70-year-old Japanese man with Legionella pneumonia who presented with hyponatremia, hypophosphatemia, and hypouricemia. The levels of urinary β2-microglobulin and N-acetyl-β-D-glucosaminidase were remarkably high, indicating severe renal tubular damage. The presence of glycosuria and aminoaciduria as well as increased fractional excretion of uric acid and decreased tubular reabsorption of phosphate indicated that the patient's condition was complicated with Fanconi syndrome...
June 6, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29875851/the-spectrum-of-kidney-diseases-in-children-associated-with-low-molecular-weight-proteinuria
#15
Shpetim Salihu, Katerina Tosheska, Natasa Aluloska, Zoran Gucev, Svetlana Cekovska, Velibor Tasic
BACKGROUND: Proteinuria, in addition to haematuria, is the most important laboratory parameter in patients with nephro-urological diseases. Low molecular weight proteinuria (LMWP) is of particular importance because some diseases genetic and tubulointerstitial are diagnosed based on its presence. AIM: The purpose of this study is to describe the clinical features, the course and outcome of pediatric patients with a renal disease associated with LMWP. MATERIAL AND METHODS: This retrospective observational study included 250 pediatric patients with various kidney diseases in which the type of proteinuria was defined by 4-20% gradient gel sodium dodecyl sulphate polyacrylamide gel (SDS-PAG) electrophoresis...
May 20, 2018: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29872499/platinum-sensitivity-and-dna-repair-in-a-recently-established-panel-of-patient-derived-ovarian-carcinoma-xenografts
#16
Federica Guffanti, Maddalena Fratelli, Monica Ganzinelli, Marco Bolis, Francesca Ricci, Francesca Bizzaro, Rosaria Chilà, Federica Paola Sina, Robert Fruscio, Michela Lupia, Ugo Cavallaro, Maria Rosa Cappelletti, Daniele Generali, Raffaella Giavazzi, Giovanna Damia
A xenobank of patient-derived (PDX) ovarian tumor samples has been established consisting of tumors with different sensitivity to cisplatin (DDP), from very responsive to resistant. As the DNA repair pathway is an important driver in tumor response to DDP, we analyzed the mRNA expression of 20 genes involved in the nucleotide excision repair, fanconi anemia, homologous recombination, base excision repair, mismatch repair and translesion repair pathways and the methylation patterns of some of these genes. We also investigated the correlation with the response to platinum-based therapy...
May 15, 2018: Oncotarget
https://www.readbyqxmd.com/read/29850343/a-skeptical-approach-to-the-management-of-persistent-oral-ulceration-in-a-child
#17
Ibrahim Kartal, Ayhan Dağdemir, Murat Elli, Levent Yıldız, Ayşegül Yılmaz
The diagnosis of oral lesions is sometimes difficult due to both the clinician's limited experience with the conditions that may cause the lesions and their similar appearances, especially in children. Correctly establishing a definitive diagnosis is of major importance to clinicians who manage patients with oral mucosal diseases. In patients with Fanconi anaemia (FA), oral ulcers occur frequently, which are quite variable, and may lead to a misdiagnosis or failure to diagnose. Here, we report the case of a 15-year-old boy who was examined for squamous cell cancer of the tongue and diagnosed as having FA without any haematological manifestations...
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29843852/fanconi-anaemia-in-south-africa-past-present-and-future
#18
C Feben, T Wainstein, J Kromberg, F Essop, A Krause
Fanconi anaemia (FA) is an inherited genetic disorder characterised by somatic anomalies, bone marrow failure and an increased predisposition to solid tumours and haematological malignancies. South African (SA) black and Afrikaner individuals are at higher than average risk for this condition owing to genetic founder mutations in certain Fanconi-associated genes. This review explores the epidemiology, clinical presentation, diagnostic modalities and recommended care of affected patients, focusing on the founder population groups in SA...
April 25, 2018: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/29806685/-nephropatic-cystinosis-report-of-one-case
#19
Paola Krall, Daniela Nualart, Jean Grandy
Nephropatic cystinosis (NC) is a rare disease associated with pathogenic variants in the CTNS gene, with a common variant that consists of a 57kb-deletion involving CTNS. Patients with NC that are treated with cysteamine improve their life quality and expectancy. We report a 12-month-old girl with a poor growth rate since the 4th month of life. She was admitted to the Hospital with acute kidney injury, severe dehydration and metabolic acidosis. She was treated with volume restorative and bicarbonate. Proximal tubulopathy and Fanconi's syndrome was diagnosed...
January 2018: Revista Médica de Chile
https://www.readbyqxmd.com/read/29789935/potential-use-of-stem-cells-as-a-therapy-for-cystinosis
#20
REVIEW
Celine J Rocca, Stephanie Cherqui
Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders (LSDs). Initial symptoms of cystinosis correspond to the renal Fanconi syndrome. Patients then develop chronic kidney disease and multi-organ failure due to accumulation of cystine in all tissue compartments. LSDs are commonly characterized by a defective activity of lysosomal enzymes. Hematopoietic stem and progenitor cell (HSPC) transplantation is a treatment option for several LSDs based on the premise that their progeny will integrate in the affected tissues and secrete the functional enzyme, which will be recaptured by the surrounding deficient cells and restore physiological activity...
May 22, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
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"