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Renal genetics

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https://www.readbyqxmd.com/read/28812986/epigenome-aberrations-emerging-driving-factors-of-the-clear-cell-renal-cell-carcinoma
#1
REVIEW
Ali Mehdi, Yasser Riazalhosseini
Clear cell renal cell carcinoma (ccRCC), the most common form of Kidney cancer, is characterized by frequent mutations of the von Hippel-Lindau (VHL) tumor suppressor gene in ~85% of sporadic cases. Loss of pVHL function affects multiple cellular processes, among which the activation of hypoxia inducible factor (HIF) pathway is the best-known function. Constitutive activation of HIF signaling in turn activates hundreds of genes involved in numerous oncogenic pathways, which contribute to the development or progression of ccRCC...
August 16, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28812468/the-first-reported-case-of-meckel-gruber-syndrome-associated-with-abnormal-karyotype-mosaic-trisomy-17
#2
Zuzana Cierna, Pavol Janega, Frantisek Grochal, Vladimir Ferianec, Tatiana Braxatorisova, Lucia Strieskova, Jana Malova, Petra Jungova, Tomas Szemes
Meckel-Gruber syndrome (MKS) is a rare lethal autosomal recessive disorder with typical anomalies including encephalocele, multicystic renal dysplasia, congenital liver fibrosis, and polydactyly. MKS is caused by mutations of genes localized on different chromosomes. Karyotypes of published Meckel-Gruber syndrome cases are without any aberrations. We present a male fetus with meningoencephalocele, multicystic renal dysplasia, congenital liver fibrosis, and other anomalies. Standard cytogenetic examination of cultured fetal skin and muscle fibroblasts showed mosaic trisomy 17...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28808057/a-kidney-specific-genetic-control-module-in-mice-governs-endocrine-regulation-of-the-cytochrome-p450-gene-cyp27b1-essential-for-vitamin-d3-activation
#3
Mark B Meyer, Nancy A Benkusky, Martin Kaufmann, Seong Min Lee, Melda Onal, Glenville Jones, J Wesley Pike
The vitamin D endocrine system regulates mineral homeostasis through its activities in the intestine, kidney, and bone. Terminal activation of vitamin D3 to its hormonal form, 1,25(OH)2D3, occurs in the kidney via the cytochrome P450 enzyme CYP27B1. Despite its importance in vitamin D metabolism, the molecular mechanisms underlying the regulation of the gene for this enzyme, Cyp27b1, are unknown. Here, we identified a kidney-specific control module governed by a renal cell-specific chromatin structure located distal to Cyp27b1 that mediates unique basal and parathyroid hormone (PTH)-, fibroblast growth factor 23 (FGF23)-, and 1,25(OH)2D3-mediated regulation of Cyp27b1 expression...
August 14, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28806188/tubulointerstitial-nephritis-and-uveitis
#4
Kaivon Pakzad-Vaezi, Kathryn L Pepple
PURPOSE OF REVIEW: Tubulointerstitial nephritis and uveitis (TINU) is an important yet underrecognized ocular inflammatory syndrome. This review summarizes key historical publications that identified and defined the syndrome, and more recent literature that reveal the importance of urinary β2-microglobulin testing and kidney biopsy in the diagnostic evaluation of patients with TINU. Additionally, research studies providing new insights into disease pathogenesis are highlighted. RECENT FINDINGS: In contrast with initial reports of TINU manifesting exclusively as an anterior uveitis in pediatric patients, more recent reports have identified TINU in patients of all ages with a wide range of ocular manifestations...
August 12, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28803024/a-comparison-of-splicing-assays-to-detect-an-intronic-variant-of-the-ocrl-gene-in-lowe-syndrome
#5
Keita Nakanishi, Kandai Nozu, Ryugo Hiramoto, Shogo Minamikawa, Tomohiko Yamamura, Junya Fujimura, Tomoko Horinouchi, Takeshi Ninchoji, Hiroshi Kaito, Naoya Morisada, Shingo Ishimori, Koichi Nakanishi, Ichiro Morioka, Hiroyuki Awano, Masafumi Matsuo, Kazumoto Iijima
Lowe syndrome is an X-linked inherited disorder diagnosed by congenital cataracts, intellectual impairment, and renal tubular dysfunction. It is caused by pathogenic variants of the oculocerebrorenal syndrome of Lowe gene (OCRL), of which more than 250 have been reported so far. Around 30 of these variants are intronic nucleotide changes; however, to show the pathogenicity of these variants is usually laborious. In this report, we conducted genetic testing of a patient clinically diagnosed with Lowe syndrome to detect the presence of OCRL variants...
August 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28802544/a-role-of-the-endothelial-nitric-oxide-system-in-acute-renal-colic-caused-by-ureteral-stone
#6
Emre Bulbul, Elif Funda Sener, Nahide Ekici Gunay, Bahadir Taslidere, Elif Taslidere, Serhat Koyuncu, Nurullah Gunay
BACKGROUND AND AIMS: Endothelial nitric oxide synthase gene polymorphisms play a role in some pathophysiological processes. In this study, the possible effects of endothelial nitric oxide synthase gene polymorphisms on ureteral stone disease in patients who were admitted to the emergency department with severe pain due to renal colic are examined. MATERIALS AND METHODS: The study groups were designed as controls and patients. The control group was formed from the healthy volunteers who applied to the blood center next to the emergency service...
August 7, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28802308/vitreous-amyloidosis-with-autonomic-neuropathy-of-the-digestive-tract-associated-with-a-novel-transthyretin-p-gly87arg-variant-in-a-bangladeshi-patient-a-case-report
#7
Benjamin Terrier, Magali Colombat, Caroline Beugnet, Astrid Quéant, Jonathan London, Jean-Baptiste Daudin, Claire Le Jeunne, Luc Mouthon, Dominique Monnet, Cécile Cauquil, Catherine Lacroix, David Adams, Antoine Brézin, Sophie Valleix
BACKGROUND: Hereditary transthyretin amyloidosis is an autosomal dominant inherited disorder, first described in families with sensorimotor and autonomic neuropathy. Since its first description, more than 120 amyloidogenic transthyretin mutations have been reported with various geographic distributions and associated with a wide range of phenotypes involving the peripheral nerve, the heart, the gastrointestinal tract, the eyes, the central nervous system, or the kidneys. In some cases of transthyretin amyloidosis, the first clinical manifestation is vitreous opacity...
August 13, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28801314/macrophage-migration-inhibitory-factor-limits-renal-inflammation-and-fibrosis-by-counteracting-tubular-cell-cycle-arrest
#8
Sonja Djudjaj, Ina V Martin, Eva M Buhl, Nina J Nothofer, Lin Leng, Marta Piecychna, Jürgen Floege, Jürgen Bernhagen, Richard Bucala, Peter Boor
Renal fibrosis is a common underlying process of progressive kidney diseases. We investigated the role of macrophage migration inhibitory factor (MIF), a pleiotropic proinflammatory cytokine, in this process. In mice subjected to unilateral ureteral obstruction, genetic deletion or pharmacologic inhibition of MIF aggravated fibrosis and inflammation, whereas treatment with recombinant MIF was beneficial, even in established fibrosis. In two other models of progressive kidney disease, global Mif deletion or MIF inhibition also worsened fibrosis and inflammation and associated with worse kidney function...
August 11, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28798244/atypical-haemolytic-uremic-syndrome-ahus-and-membranoproliferative-glomerulonephritis-mpgn-different-diseases-or-a-spectrum-of-complement-mediated-glomerular-diseases
#9
Ghada A Ankawi, William F Clark
Historically, patients with kidney diseases caused by genetic or acquired dysregulation of the complement alternative pathway have been grouped into clinical syndromes, C3 glomerulopathy (C3GN/DDD) and thrombotic microangiopathy (TMA), specifically atypical haemolytic uremic syndrome (aHUS). Recent data suggested that these diseases share a common pathophysiology and that patients can transition between glomerulopathies in this spectrum. Histopathologically, the main difference cited is the immunofluorescence (IF) findings, with C3 predominance in C3 glomerulopathy (compared with immunoglobulins and complements in immune complex-mediated membranoproliferative glomerulonephritis (MPGN)) and negative IF in TMA...
August 10, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28797896/predictors-of-mortality-in-adults-with-sickle-cell-disease-admitted-to-intensive-care-unit-in-bahrain
#10
Sana Abdulaaziz Al Khawaja, Zainab Mahdi Ateya, Ridha Abdulla Al Hammam
OBJECTIVE: Sickle cell disease (SCD) is one of the most common genetic blood disorders in Bahrain. However, there is a paucity of data regarding the clinical presentation of SCD patients who require ICU admission. This study aimed to describe the epidemiological data of SCD patients admitted to the ICU and to identify predictors of mortality in order to help intensivists identify patients at most risk. METHOD: This study used a retrospective, descriptive, and correlational design...
July 15, 2017: Journal of Critical Care
https://www.readbyqxmd.com/read/28797570/genetic-variants-related-to-longer-telomere-length-are-associated-with-increased-risk-of-renal-cell-carcinoma
#11
Mitchell J Machiela, Jonathan N Hofmann, Robert Carreras-Torres, Kevin M Brown, Mattias Johansson, Zhaoming Wang, Matthieu Foll, Peng Li, Nathaniel Rothman, Sharon A Savage, Valerie Gaborieau, James D McKay, Yuanqing Ye, Marc Henrion, Fiona Bruinsma, Susan Jordan, Gianluca Severi, Kristian Hveem, Lars J Vatten, Tony Fletcher, Kvetoslava Koppova, Susanna C Larsson, Alicja Wolk, Rosamonde E Banks, Peter J Selby, Douglas F Easton, Paul Pharoah, Gabriella Andreotti, Laura E Beane Freeman, Stella Koutros, Demetrius Albanes, Satu Mannisto, Stephanie Weinstein, Peter E Clark, Todd E Edwards, Loren Lipworth, Susan M Gapstur, Victoria L Stevens, Hallie Carol, Matthew L Freedman, Mark M Pomerantz, Eunyoung Cho, Peter Kraft, Mark A Preston, Kathryn M Wilson, J Michael Gaziano, Howard S Sesso, Amanda Black, Neal D Freedman, Wen-Yi Huang, John G Anema, Richard J Kahnoski, Brian R Lane, Sabrina L Noyes, David Petillo, Leandro M Colli, Joshua N Sampson, Celine Besse, Helene Blanche, Anne Boland, Laurie Burdette, Egor Prokhortchouk, Konstantin G Skryabin, Meredith Yeager, Mirjana Mijuskovic, Miodrag Ognjanovic, Lenka Foretova, Ivana Holcatova, Vladimir Janout, Dana Mates, Anush Mukeriya, Stefan Rascu, David Zaridze, Vladimir Bencko, Cezary Cybulski, Eleonora Fabianova, Viorel Jinga, Jolanta Lissowska, Jan Lubinski, Marie Navratilova, Peter Rudnai, Neonila Szeszenia-Dabrowska, Simone Benhamou, Geraldine Cancel-Tassin, Olivier Cussenot, H Bas Bueno-de-Mesquita, Federico Canzian, Eric J Duell, Börje Ljungberg, Raviprakash T Sitaram, Ulrike Peters, Emily White, Garnet L Anderson, Lisa Johnson, Juhua Luo, Julie Buring, I-Min Lee, Wong-Ho Chow, Lee E Moore, Christopher Wood, Timothy Eisen, James Larkin, Toni K Choueiri, G Mark Lathrop, Bin Tean Teh, Jean-Francois Deleuze, Xifeng Wu, Richard S Houlston, Paul Brennan, Stephen J Chanock, Ghislaine Scelo, Mark P Purdue
BACKGROUND: Relative telomere length in peripheral blood leukocytes has been evaluated as a potential biomarker for renal cell carcinoma (RCC) risk in several studies, with conflicting findings. OBJECTIVE: We performed an analysis of genetic variants associated with leukocyte telomere length to assess the relationship between telomere length and RCC risk using Mendelian randomization, an approach unaffected by biases from temporal variability and reverse causation that might have affected earlier investigations...
August 7, 2017: European Urology
https://www.readbyqxmd.com/read/28795307/sex-symptom-severity-and-quality-of-life-in-rheumatology
#12
REVIEW
Marco Krasselt, Christoph Baerwald
Inflammatory rheumatic diseases such as rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) show a striking female predominance ranging from 3:1 in RA up to 9:1 in SLE. The background for those gender bias is not fully understood yet, but seems to be the result of a complex interaction between sex hormones, (epi-)genetics, and possibly even the composition of gut microbiota. Moreover, time of disease onset, the clinical phenotype including co-morbidities as well as the course of the diseases during life differ between genders...
August 9, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28794363/renal-cell-carcinoma-and-a-pancreatic-neuroendocrine-tumor-a-coincidence-or-instance-of-von-hippel-lindau-disease
#13
Hiroyuki Matsubayashi, Masashi Niwakawa, Katsuhiko Uesaka, Keiko Sasaki, Yoshimi Kiyozumi, Hirotoshi Ishiwatari, Kinichi Hotta, Kenichiro Imai, Sayo Ito, Kohei Takizawa, Masaki Tanaka, Noboru Kawata, Naomi Kakushima, Hiroyuki Ono
We herein report a rare case of a 79-year-old man who presented with the simultaneous occurrence of pancreatic neuroendocrine tumors (PNET) and renal cell carcinomas (RCC), without any other Von Hippel-Lindau (VHL)-associated lesions or any pertinent family history. Computed tomography showed vascular-rich solid lesions in the left kidney and the pancreatic tail, measuring 72 mm and 15 mm in size, respectively. Preoperatively, RCC with pancreatic metastasis was suspected and laparotomy was performed. However, the resected specimens revealed a different tumor histology, namely renal clear cell carcinoma (G2, pT3) and PNET (G1, pT3)...
August 10, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28792917/association-between-abcb1-gene-polymorphism-and-renal-function-in-patients-with-hypertension-a-case-control-study
#14
Xiaofang Chen, Tao Zhou, Deguang Yang, Jinyang Lu
BACKGROUND A previous study found that target organ damage in patients with hypertension was related to genetic factors. The aim of our study aim was to explore the association between the ABCB1 gene and renal function injury induced by hypertension. MATERIAL AND METHODS We used a case-control study design. Patients with hypertension were enrolled from our hospital between July 2015 and December 2015. Questionnaire data included personal information, life habits and behavior. Clinical data included blood routine examination and liver and renal function...
August 9, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28792876/nad-deficiency-congenital-malformations-and-niacin-supplementation
#15
Hongjun Shi, Annabelle Enriquez, Melissa Rapadas, Ella M M A Martin, Roni Wang, Julie Moreau, Chai K Lim, Justin O Szot, Eddie Ip, James N Hughes, Kotaro Sugimoto, David T Humphreys, Aideen M McInerney-Leo, Paul J Leo, Ghassan J Maghzal, Jake Halliday, Janine Smith, Alison Colley, Paul R Mark, Felicity Collins, David O Sillence, David S Winlaw, Joshua W K Ho, Gilles J Guillemin, Matthew A Brown, Kazu Kikuchi, Paul Q Thomas, Roland Stocker, Eleni Giannoulatou, Gavin Chapman, Emma L Duncan, Duncan B Sparrow, Sally L Dunwoodie
BACKGROUND: Congenital malformations can be manifested as combinations of phenotypes that co-occur more often than expected by chance. In many such cases, it has proved difficult to identify a genetic cause. We sought the genetic cause of cardiac, vertebral, and renal defects, among others, in unrelated patients. METHODS: We used genomic sequencing to identify potentially pathogenic gene variants in families in which a person had multiple congenital malformations...
August 10, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28792715/mutational-screening-of-pkd1-and-pkd2-genes-in-iranian-population-diagnosed-with-autosomal-dominant-polycystic-kidney-disease
#16
Fariba Ranjzad, Ahmad Tara, Abbas Basiri, Nasser Aghdami, Reza Moghadasali
BACKGROUND: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the fourth most frequent cause of endstage renal disease (ESDR), occurring at a varying frequency of 1/400 to 1/800 persons. The disease affects all ethnic groups worldwide, and there is a need for population based studies to be carried out for better diagnostic, genetic counselling, and treatment purpose. METHODS: Eighteen unrelated probands (10 males and 8 females) with a familial history of ADPKD were selected for the study...
July 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28782322/congenital-adrenal-hyperplasia-with-11-beta-hydroxylase-deficiency-with-testicular-adrenal-rest-tumour
#17
Archana Sonawale, Anjali Rajadhyaksha, Siddharth Warrier, Rohit Shriwastav, Nilakshi H Sabnis
Congenital adrenal hyperplasia refers to the non-malignant enlargement of adrenal gland tissue as a result of deficiency of one of several enzymes involved in adrenal hormone synthesis, secondary to a genetic mutation. 11 - Beta hydroxylase is one such enzyme, and its deficiency is a rare cause of Congenital Adrenal Hyperplasia. We describe the case of an 18-year old man who presented to us with an acute right ganglio-capsular bleed, hypertension and bilateral scrotal swelling. Investigations revealed hypokalemia, and normal renal and cardiac functions...
June 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28780132/commentary-on-comprehensive-molecular-characterization-of-papillary-renal-cell-carcinoma-cancer-genome-atlas-research-network-n-engl-j-med-2016-jan-14-374-2-135-45
#18
Byron H Lee
BACKGROUND: Papillary renal-cell carcinoma, which accounts for 15%-20% of renal-cell carcinomas, is a heterogeneous disease that consists of various types of renal cancer, including tumors with indolent, multifocal presentation, and solitary tumors with an aggressive, highly lethal phenotype. Little is known about the genetic basis of sporadic papillary renal-cell carcinoma, and no effective forms of therapy for advanced disease exist. METHODS: We performed comprehensive molecular characterization of 161 primary papillary renal-cell carcinomas, using whole-exome sequencing, copy-number analysis, messenger RNA and microRNA sequencing, DNA-methylation analysis, and proteomic analysis...
August 2, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28776935/shorter-telomere-length-increases-age-related-tumor-risks-in-von-hippel-lindau-disease-patients
#19
Jiang-Yi Wang, Shuang-He Peng, Xiang-Hui Ning, Teng Li, Sheng-Jie Liu, Jia-Yuan Liu, Bao-An Hong, Nie-Nie Qi, Xiang Peng, Bo-Wen Zhou, Jiu-Feng Zhang, Lin Cai, Kan Gong
Von Hippel-Lindau (VHL) disease is a rare autosomal dominant cancer syndrome caused by alterations of VHL gene. Patients are predisposed to develop pheochromocytomas and solid or cystic tumors of the central nervous system, kidney, pancreas, and retina. Remarkable phenotypic heterogeneity exits in organ involvement and tumor onset age between and within VHL families. However, no reliable markers have been found to predict the age-related tumor risks in VHL patients. A large Chinese cohort composed of 300 VHL patients and 92 healthy family controls was enrolled in our study...
August 4, 2017: Cancer Medicine
https://www.readbyqxmd.com/read/28776307/genetic-basis-of-adult-onset-nephrotic-syndrome-and-focal-segmental-glomerulosclerosis
#20
REVIEW
Jian Liu, Weiming Wang
Nephrotic syndrome (NS) is one of the most common glomerular diseases with signs of nephrosis, heavy proteinuria, hypoalbuminemia, and edema. Dysfunction of glomerular filtration barrier causes protein loss through the kidneys. Focal segmental glomerulosclerosis (FSGS) accounts for nearly 20% of NS among children and adults. Adult-onset FSGS/NS is often associated with low response to steroid treatment and immunosuppressive medication and poor renal survival. Several genes involved in NS and FSGS have been identified by linkage analysis and next-generation sequencing...
August 3, 2017: Frontiers of Medicine
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