keyword
MENU ▼
Read by QxMD icon Read
search

Renal genetics

keyword
https://www.readbyqxmd.com/read/28087726/benefit-of-mineralocorticoid-receptor-antagonism-in-aki-role-of-vascular-smooth-muscle-rac1
#1
Jonatan Barrera-Chimal, Gwennan André-Grégoire, Aurelie Nguyen Dinh Cat, Sebastian M Lechner, Jérôme Cau, Sonia Prince, Peter Kolkhof, Gervaise Loirand, Vincent Sauzeau, Thierry Hauet, Frédéric Jaisser
AKI is a frequent complication in hospitalized patients. Unfortunately, there is no effective pharmacologic approach for treating or preventing AKI. In rodents, mineralocorticoid receptor (MR) antagonism prevents AKI induced by ischemia-reperfusion (IR). We investigated the specific role of vascular MR in mediating AKI induced by IR. We also assessed the protective effect of MR antagonism in IR-induced AKI in the Large White pig, a model of human AKI. In mice, MR deficiency in smooth muscle cells (SMCs) protected against kidney IR injury...
January 13, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28086997/enamel-renal-syndrome-in-2-patients-with-a-mutation-in-fam20-a-and-atypical-hypertrichosis-and-hearing-loss-phenotypes
#2
Sabina Pena B Pêgo, Ricardo D Coletta, Simona Dumitriu, Daniela Iancu, Saleh Albanyan, Robert Kleta, Maria Teresa Auricchio, Luis Antônio Santos, Breno Rocha, Hercílio Martelli-Júnior
Enamel-renal syndrome (OMIM #204690) is an uncommon disorder characterized by amelogenesis imperfecta and nephrocalcinosis and is caused by mutations in FAM20 A. We report 2 patients with enamel-renal syndrome who exhibited the typical features of this syndrome and a homozygous nonsense mutation in the FAM20 A gene (c.406 C>T), genetically confirming the diagnosis. They also exhibited 2 undescribed clinical features, hypertrichosis and hearing loss. Alterations in genes frequently associated with nonsyndromic hearing loss in the Brazilian population, including connexin 26 (GJB2), connexin 30 (GJB6) and mitochondrial 12 S rRNA (m...
February 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/28079670/impact-of-genetic-variation-in-the-vasopressin-1a-receptor-on-the-development-of-organ-failure-in-patients-admitted-for-acute-decompensation-of-liver-cirrhosis
#3
Annarein J C Kerbert, Jelte J Schaapman, Johan J van der Reijden, Àlex Amorós Navarro, Aiden McCormick, Bart van Hoek, Vicente Arroyo, Pere Ginès, Rajiv Jalan, Victor Vargas, Rudolf Stauber, Hein W Verspaget, Minneke J Coenraad
BACKGROUND: Vasopressin receptor-mediated vasoconstriction is considered to be involved in the pathogenesis of organ failure in acute-on-chronic liver failure (ACLF). PATIENTS AND METHODS: We studied the association between six single nucleotide polymorphisms (SNPs) of the vasopressin 1a receptor gene and the development of organ failure in 826 patients admitted for acute decompensation of liver cirrhosis (n=641) or ACLF (n=185). RESULTS: No associations were found for SNPs with the presence of circulatory or renal failure...
January 10, 2017: European Journal of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28078995/sphingolipids-in-genetic-and-acquired-forms-of-chronic-kidney-diseases
#4
Norishi Ueda
Sphingolipids (SLs) regulate apoptosis, proliferation, and stress response. SLs, including ceramide, glycosphingolipids (glucosylceramide, lactosylceramide, and gangliosides) and sphingosine-1-phosphate (S1P), play a role in the pathogenesis and progression of genetic (lysosomal storage disease, congenital nephrotic syndrome and polycystic kidney disease) and non-genetic forms of chronic kidney diseases (CKDs). SLs metabolism defects promote complications (cardiovascular events, etc.) via oxidant stress in CKDs...
January 12, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28073131/evaluation-of-glutathione-peroxidase-and-kcnj11-gene-polymorphisms-in-patients-with-new-onset-diabetes-mellitus-after-renal-transplantation
#5
Gulsah Y Yalin, Sebahat Akgul, Seher Tanrikulu, Sevim Purisa, Nurdan Gul, Ayse K Uzum, Fatma O Sarvan, Mehmet S Sever, Ilhan Satman
Introduction Genetic mutations such as C599T polymorphism in glutathione peroxidase [GPX1] gene and polymorphisms in potassium channel (KCNJ11) genes have recently been proposed in the etiopathogenesis of new onset diabetes mellitus after renal transplantation (NODAT). We aimed to examine the association of GPX1 and KCNJ11 polymorphisms in NODAT. Materials and Methods This is a monocenter case-control study with a total of 118 renal transplant recipients who were divided into 2 groups; NODAT and normal glucose tolerance...
January 10, 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/28072736/von-hippel-lindau-disease-involving-pancreas-and-biliary-system-a-rare-case-report
#6
Xu-Ting Zhi, Qi-Yu Bo, Feng Zhao, Dong Sun, Tao Li
RATIONALE: Von Hippel-Lindau (VHL) disease is a rare inherited, autosomal-dominant syndrome caused by heterozygous germline mutations in the VHL gene. VHL patients are prone to develop benign and malignant tumors and cysts in multiple organ systems involving kidneys, pancreas and central nervous system (CNS). The varied and complex clinical manifestations and radiological findings of VHL are of interest. PATIENT CONCERNS: We report a 38-year-old woman with a ten-year history of VHL disease involving both pancreas and biliary system...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28070921/brm-smarca2-negative-clear-cell-renal-cell-carcinoma-is-associated-with-a-high-percentage-of-brm-somatic-mutations-deletions-and-promoter-methylation
#7
Qiu-Yuan Xia, Xue-Mei Zhan, Xiang-Shan Fan, Sheng-Bing Ye, Shan-Shan Shi, Rui Li, Xue Wei, Xuan Wang, Heng-Hui Ma, Zhen-Feng Lu, Xiao-Jun Zhou, Qiu Rao
AIMS: The aim of this study was to investigate potential molecular mechanisms associated with loss of BRM expression in poorly differentiated clear cell renal cell carcinoma (ccRCC). METHODS AND RESULTS: Nineteen previously selected BRM-negative RCC tissues were examined by DNA sequencing, fluorescence in-situ hybridization (FISH) and methylation-specific polymerase chain reaction (PCR) of the BRM gene. BRM mutation was identified in 78.9% (15 of 19) cases, chromosome 9 monosomy or BRM deletion in 43...
November 7, 2016: Histopathology
https://www.readbyqxmd.com/read/28068796/partial-nephrectomy-for-presumed-renal-cell-carcinoma-incidence-predictors-and-perioperative-outcomes-of-benign-lesions
#8
Tyler Marques Bauman, Aaron Potretzke, Alec J Wright, Brent Alexander Knight, Joel M Vetter, Robert S Figenshau
BACKGROUND: The aim of this study was to investigate the incidence of benign histology after partial nephrectomy (PN) in patients with presumed malignancy from preoperative imaging. Further, preoperative predictors of benign lesions and perioperative outcomes were also assessed. METHODS: A series of patients undergoing PN for renal masses was identified using a prospectively maintained database. Patients were excluded for known genetic conditions, if more than one renal mass was resected, or if standard preoperative imaging was not suspicious for RCC...
January 9, 2017: Journal of Endourology
https://www.readbyqxmd.com/read/28064215/pathophysiological-mechanisms-of-renal-fibrosis-a-review-of-animal-models-and-therapeutic-strategies
#9
REVIEW
António Nogueira, Maria João Pires, Paula Alexandra Oliveira
Chronic kidney disease (CKD) is a long-term condition in which the kidneys do not work correctly. It has a high prevalence and represents a serious hazard to human health and estimated to affects hundreds of millions of people. Diabetes and hypertension are the two principal causes of CKD. The progression of CKD is characterized by the loss of renal cells and their replacement by extracellular matrix (ECM), independently of the associated disease. Thus, one of the consequences of CKD is glomerulosclerosis and tubulointerstitial fibrosis caused by an imbalance between excessive synthesis and reduced breakdown of the ECM...
January 2017: In Vivo
https://www.readbyqxmd.com/read/28064162/acute-genetic-ablation-of-pendrin-lowers-blood-pressure-in-mice
#10
Francesco Trepiccione, Christelle Soukaseum, Veronique Baudrie, Yusuke Kumai, Jacques Teulon, Bruno Villoutreix, Nicolas Cornière, Philine Wangemann, Andrew J Griffith, Yoon Byung Choi, Juliette Hadchouel, Regine Chambrey, Dominique Eladari
BACKGROUND: Pendrin, the chloride/bicarbonate exchanger of β-intercalated cells of the renal connecting tubule and the collecting duct, plays a key role in NaCl reabsorption by the distal nephron. Therefore, pendrin may be important for the control of extracellular fluid volume and blood pressure. METHODS: Here, we have used a genetic mouse model in which the expression of pendrin can be switched-on in vivo by the administration of doxycycline. Pendrin can also be rapidly removed when doxycycline administration is discontinued...
January 7, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28063537/facteurs-g%C3%A3-n%C3%A3-tiques-%C3%A3-prendre-en-consid%C3%A3-ration-dans-le-cadre-de-l-examen-gyn%C3%A3-cologique-annuel
#11
R Douglas Wilson, Sylvie Langlois
OBJECTIF: Offrir aux médecins un survol des troubles génétiques courants qui devraient être pris en considération dans le cadre de l'examen gynécologique annuel d'une patiente, et ce, afin de déterminer le risque que court celle-ci ou d'en venir à procéder à des examens particuliers ou à orienter la patiente vers un autre service de sous-spécialité, en fonction de ses antécédents personnels ou familiaux. OPTIONS: Ces renseignements d'ordre génétique peuvent être utilisés aux fins de la sensibilisation des patientes et du dépistage ou du diagnostic de possibles maladies et/ou mutations...
December 2016: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28063381/brd4-inhibition-attenuates-unilateral-ureteral-obstruction-induced-fibrosis-by-blocking-tgf-%C3%AE-mediated-nox4-expression
#12
Baoshang Zhou, Jiao Mu, Yi Gong, Caibao Lu, Youguang Zhao, Ting He, Zhexue Qin
Uncovering new therapeutic targets for renal fibrosis holds promise for the treatment of chronic kidney diseases. Bromodomain and extra-terminal (BET) protein inhibitors have been shown to effectively ameliorate pathological fibrotic responses. However, the pharmacological effects and underlying mechanisms of these inhibitors in renal fibrosis remain elusive. In this study, we determined that the inhibition of Brd4, a BET family member, with a selective potent chemical inhibitor, JQ1, could prevent the development of renal fibrosis and block the progression of fibrosis in rats that have undergone unilateral ureteral obstruction (UUO)...
December 30, 2016: Redox Biology
https://www.readbyqxmd.com/read/28063109/mutation-screening-of-ackr3-and-cops8-in-kidney-cancer-cases-from-the-confirm-study
#13
Maryam Mahmoodi, Tu Nguyen-Dumont, Fleur Hammet, Bernard J Pope, Daniel J Park, Melissa C Southey, John M Darlow, Fiona Bruinsma, Ingrid Winship
An apparently balanced t(2;3)(q37.3;q13.2) translocation that appears to segregate with renal cell carcinoma (RCC) has indicated potential areas to search for the elusive genetic basis of clear cell RCC. We applied Hi-Plex targeted sequencing to analyse germline DNA from 479 individuals affected with clear cell RCC for this breakpoint translocation and genetic variants in neighbouring genes on chromosome 2, ACKR3 and COPS8. While only synonymous variants were found in COPS8, one of the missense variants in ACKR3:c...
January 6, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28058212/complement-related-kidney-diseases-recurrence-after-transplantation
#14
REVIEW
Maurizio Salvadori, Elisabetta Bertoni
The recurrence of renal disease after renal transplantation is becoming one of the main causes of graft loss after kidney transplantation. This principally concerns some of the original diseases as the atypical hemolytic uremic syndrome (HUS), the membranoproliferative glomerulonephritis (MPGN), in particular the MPGN now called C3 glomerulopathy. Both this groups of renal diseases are characterized by congenital (genetic) or acquired (auto-antibodies) modifications of the alternative pathway of complement...
December 24, 2016: World Journal of Transplantation
https://www.readbyqxmd.com/read/28057640/murine-systemic-thrombophilia-and-hemolytic-uremic-syndrome-from-a-factor-h-point-mutation
#15
Yoshiyasu Ueda, Imran Mohammed, Delu Song, Damodar Gullipalli, Lin Zhou, Sayaka Sato, Yuan Wang, Shuchi Gupta, Zhongjian Cheng, Hong Wang, Jialing Bao, Yingying Mao, Lawrence Brass, X Long Zheng, Takashi Miwa, Matthew Palmer, Joshua Dunaief, Wen-Chao Song
Complement plays a key role in host defense but its dysregulation can cause autologous tissue injury. Complement activation is normally controlled by regulatory proteins including factor H (FH) in plasma and membrane cofactor protein (MCP) on the cell surface. Mutations in FH and MCP are linked to atypical hemolytic uremic syndrome, a type of thrombotic microangiopathy (TMA) that causes renal failure in patients. We describe here that disruption of FH function on the cell surface can also lead to disseminated complement-dependent macrovascular thrombosis...
January 5, 2017: Blood
https://www.readbyqxmd.com/read/28057044/tuberous-sclerosis-registry-to-increase-disease-awareness-tosca-baseline-data-on-2093-patients
#16
John C Kingswood, Guillaume B d'Augères, Elena Belousova, José C Ferreira, Tom Carter, Ramon Castellana, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Petrus J de Vries, Martha Feucht, Carla Fladrowski, Gabriella Gislimberti, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Rima Nabbout, Finbar O'Callaghan, Mirjana P Benedik, Jiong Qin, Ruben Marques, Valentin Sander, Matthias Sauter, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C Jansen
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to address knowledge gaps in the natural history and management of TSC. Here, we present the baseline data of TOSCA cohort. METHODS: Patients of any age diagnosed with TSC, having a documented visit for TSC within the preceding 12 months, or newly diagnosed individuals were included...
January 5, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28056875/turkish-pediatric-atypical-hemolytic-uremic-syndrome-registry-initial-analysis-of-146-patients
#17
Nesrin Besbas, Bora Gulhan, Oguz Soylemezoglu, Z Birsin Ozcakar, Emine Korkmaz, Mutlu Hayran, Fatih Ozaltin
BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is a devastating disease with significant morbidity and mortality. Its genetic heterogeneity impacts its clinical presentation, progress, and outcome, and there is no consensus on its clinical management. METHODS: To identify the characteristics of aHUS in Turkish children, an industry-independent registry was established for data collection that includes both retrospective and prospective patients. RESULTS: In total, 146 patients (62 boys, 84 girls) were enrolled; 53 patients (36...
January 5, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28054444/heterozygous-pathogenic-variant-in-dact1-causes-an-autosomal-dominant-syndrome-with-features-overlapping-townes-brocks-syndrome
#18
Bryn D Webb, Sanjeeva Metikala, Patricia G Wheeler, Mingma D Sherpa, Sander M Houten, Marko E Horb, Eric E Schadt
A heterozygous nonsense variant was identified in dapper, antagonist of beta-catenin, 1 (DACT1) via whole exome sequencing in family members with imperforate anus, structural renal abnormalities, genitourinary anomalies, and/or ear anomalies. The DACT1 c.1256G>A;p.Trp419* variant segregated appropriately in the family consistent with an autosomal dominant mode of inheritance. DACT1 is a member of the Wnt signaling pathway, and mice homozygous for null alleles display multiple congenital anomalies including absent anus with blind-ending colon and genitourinary malformations...
January 5, 2017: Human Mutation
https://www.readbyqxmd.com/read/28053551/genetics-of-tuberous-sclerosis-complex-implications-for-clinical-practice
#19
REVIEW
Carolina Caban, Nubaira Khan, Daphne M Hasbani, Peter B Crino
Tuberous sclerosis complex (TSC) is a multisystem disorder that results from heterozygous mutations in either TSC1 or TSC2. The primary organ systems that are affected include the brain, skin, lung, kidney, and heart, all with variable frequency, penetrance, and severity. Neurological features include epilepsy, autism, and intellectual disability. There are more than 1,500 known pathogenic variants for TSC1 and TSC2, including deletion, nonsense, and missense mutations, and all pathogenic mutations are inactivating, leading to loss of function effects on the encoded proteins TSC1 and TSC2...
2017: Application of Clinical Genetics
https://www.readbyqxmd.com/read/28052878/high-frequency-of-variants-of-candidate-genes-in-black-africans-with-low-renin-resistant-hypertension
#20
Erika S Jones, J David Spence, Adam D Mcintyre, Justus Nondi, Kennedy Gogo, Adeseye Akintunde, Daniel G Hackam, Brian L Rayner
OBJECTIVES: Black subjects tend to retain salt and water, be more sensitive to aldosterone, and have suppression of plasma renin activity. Variants of the renal sodium channel (ENaC, SCNN1B) account for approximately 6% of resistant hypertension (RHT) in Blacks; other candidate genes may be important. METHODS: Six candidate genes associated with low renin-resistant hypertension were sequenced in Black Africans from clinics in Kenya and South Africa. CYP11B2 was sequenced if the aldosterone level was high (primary aldosteronism phenotype); SCNN1B, NEDD4L, GRK4, UMOD, and NPPA genes were sequenced if the aldosterone level was low (Liddle phenotype)...
January 4, 2017: American Journal of Hypertension
keyword
keyword
23438
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"