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Renal genetics

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https://www.readbyqxmd.com/read/28934385/hearing-loss-without-overt-metabolic-acidosis-in-atp6v1b1-deficient-mrl-mice-a-new-genetic-model-for-non-syndromic-deafness-with-enlarged-vestibular-aqueducts
#1
Cong Tian, Leona H Gagnon, Chantal Longo-Guess, Ron Korstanje, Susan M Sheehan, Kevin K Ohlemiller, Angela D Schrader, Jaclynn M Lett, Kenneth R Johnson
Mutations of the human ATP6V1B1 gene cause distal renal tubular acidosis (dRTA; OMIM #267300) often associated with sensorineural hearing impairment; however, mice with a knockout mutation of Atp6v1b1 were reported to exhibit a compensated acidosis and normal hearing. We discovered a new spontaneous mutation (vortex, symbol vtx) of Atp6v1b1 in an MRL/MpJ (MRL) colony of mice. In contrast to the reported phenotype of the knockout mouse, which was developed on a primarily C57BL/6 (B6) strain background, MRL-Atp6v1b1vtx/vtx mutant mice exhibit profound hearing impairment, which is associated with enlarged endolymphatic compartments of the inner ear...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28933368/biomarkers-and-imaging-findings-of-anderson-fabry-disease-what-we-know-now
#2
REVIEW
Idalina Beirão, Ana Cabrita, Márcia Torres, Fernando Silva, Patrício Aguiar, Francisco Laranjeira, Ana Marta Gomes
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation. Biomarkers and imaging findings may be useful for diagnosis, identification of an organ involvement, therapy monitoring and prognosis. The aim of this article is to review the current available literature on biomarkers and imaging findings of AFD patients. An extensive bibliographic review from PubMed, Medline and Clinical Key databases was performed by a group of experts from nephrology, neurology, genetics, cardiology and internal medicine, aiming for consensus...
June 11, 2017: Diseases (Basel)
https://www.readbyqxmd.com/read/28933340/renal-histology-and-mri-findings-in-a-%C3%A2-37-year-old-japanese-patient-with-autosomal-recessive-polycystic-kidney-disease%C3%A2
#3
Yusuke Ito, Akinari Sekine, Daisuke Takada, Junko Yabuuchi, Yuta Kogure, Toshiharu Ueno, Keiichi Sumida, Masayuki Yamanouchi, Noriko Hayami, Tatsuya Suwabe, Junichi Hoshino, Naoki Sawa, Kenmei Takaichi, Keiichi Kinowaki, Takeshi Fujii, Kenichi Ohashi, Hiroaki Kikuchi, Shintaro Mandai, Motoko Chiga, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Yoshifumi Ubara
A 37-year-old Japanese man with a serum creatinine level of 2.5 mg/dL and hepatomegaly was admitted to our hospital for investigation of renal failure. Magnetic resonance imaging (MRI) showed hepatomegaly with small cystic lesions that had high signal intensity on T2-weighted images. There was no splenomegaly, and the kidneys were nearly normal in size with a few small cystic lesions. Renal biopsy revealed that interstitial fibrosis and tubular atrophy affected 60% of the cortex. There was cystic tubular dilation, mainly affecting the distal loop of Henle and distal tubules, since immunohistochemical staining of the dilated tubules was positive for cytokeratin 7 and Tamm-Horsfall protein but was negative for aquaporin 3 and CD10...
September 21, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/28933339/incidence-and-outcome-of-lupus-nephritis-in-french-polynesia%C3%A2
#4
Antoine Delarche, Catherine Lumbroso, Alain Fournier, Ronan Delaval, Jacques Pourrat, Pascale Testevuide, Sylvie Leou, Christophe Cordonnier, Dominique Chauveau, Stanislas Faguer
OBJECTIVE: Outcomes of systemic lupus erythematosus (SLE) and lupus nephritis (LN) are highly heterogeneous among some populations because of interactions between genetic, epigenetic, environmental, and socioeconomic factors. A better characterization of social and ethnic disparities in mixed populations may thus help to develop individualized treatment regimens. MATERIALS AND METHODS: Retrospective observational study including all patients with LN diagnosed between January 1993 and January 2014 in the only Nephrology Department of French Polynesia...
September 21, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/28931618/predicting-major-bleeding-in-ischemic-stroke-patients-with-atrial-fibrillation
#5
Nina A Hilkens, Ale Algra, Jacoba P Greving
BACKGROUND AND PURPOSE: Performance of risk scores for major bleeding in patients with atrial fibrillation and a previous transient ischemic attack or ischemic stroke is not well established. We aimed to validate risk scores for major bleeding in patients with atrial fibrillation treated with oral anticoagulants after cerebral ischemia and explore the net benefit of oral anticoagulants among bleeding risk categories. METHODS: We analyzed 3623 patients with a history of transient ischemic attack or stroke included in the RE-LY trial (Randomized Evaluation of Long-Term Anticoagulation Therapy)...
September 20, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28929674/-molecular-mechanisms-of-autophagy-in-regulating-renal-aging-and-interventional-effects-of-chinese-herbal-medicine
#6
REVIEW
Yue Tu, Wei Sun, Di-Ping Chen, Yi-Gang Wan, Wei Wu, Jian Yao
Aging is the gradual functional recession of the living tissues or organs caused by a variety of genetic and environmental factors together. Autophagy is a process of degrading cytoplasmic components mediated by lysosomes in eukaryotic cells. Kidney is a typical target organ of aging. Autophagy regulates renal aging. Decrease in autophagy can accelerate renal aging,whereas,increase in autophagy can delay renal aging. During the process of regulating renal aging,the mammalian target of rapamycin (mTOR) and its related signaling pathways including the adenosine monophosphate activated protein kinase (AMPK)/mTOR,the phosphatidylinositol 3-kinase (PI3K)/ serine-threonine kinase(Akt)/mTOR,the AMPK/silent information regulation 1 (Sirt1) and transforming growth factor β (TGF-β) play the important roles in renal aging...
November 2016: Zhongguo Zhong Yao za Zhi, Zhongguo Zhongyao Zazhi, China Journal of Chinese Materia Medica
https://www.readbyqxmd.com/read/28928232/sdhd-ablation-promotes-thyroid-tumorigenesis-by-inducing-a-stem-like-phenotype
#7
Amruta Ashtekar, Danielle Huk, Alexa Magner, Krista La Perle, Xiaoli Zhang, Jose Piruat, Jose Lopez-Barneo, Sissy Jhiang, Lawrence Kirschner
Mutations in genes encoding enzymes in the tricarboxylic acid cycle (TCA, also known as the Krebs cycle) have been implicated as causative genetic lesions in a number of human cancers, including renal cell cancers, glioblastomas, and pheochromocytomas. In recent studies, missense mutations in the Succinate dehydrogenase (SDH) complex have also been proposed to cause differentiated thyroid cancer. In order to gain mechanistic insight into this process, we generated mice lacking the SDH subunit D (SDHD) in the thyroid...
September 19, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28924001/diagnosis-of-endocrine-disease-sdhx-mutations-beyond-pheochromocytomas-and-paragangliomas
#8
Massimo Mannelli, Letizia Canu, Tonino Ercolino, Elena Rapizzi, Serena Martinelli, Gabriele Parenti, Giuseppina De Filpo, Gabriella Nesi
Mutations in one of the five genes encoding the succinate dehydrogenase (SDHx) or mitochondrial complex II cause the corresponding family syndromes characterized by the occurrence of pheochromocytomas (PHEO) and paragangliomas (PGL). Recently, other solid growths, such as gastrointestinal stromal tumors (GISTs), renal cell carcinomas (RCCs) and pituitary adenomas (PAs) have been associated with these syndromes. In the absence of prospective studies assessing their frequency, at present, their occurrence seems too infrequent to suggest systematic screening for SDHx mutation carriers...
September 18, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28923105/genetic-engineering-of-human-nk-cells-to-express-cxcr2-improves-migration-to-renal-cell-carcinoma
#9
Veronika Kremer, Maarten Ligtenberg, Rosa Zendehdel, Christina Seitz, Annet Duivenvoorden, Erik Wennerberg, Eugenia Colón, Ann-Helén Scherman-Plogell, Andreas Lundqvist
BACKGROUND: Adoptive natural killer (NK) cell transfer is being increasingly used as cancer treatment. However, clinical responses have so far been limited to patients with hematological malignancies. A potential limiting factor in patients with solid tumors is defective homing of the infused NK cells to the tumor site. Chemokines regulate the migration of leukocytes expressing corresponding chemokine receptors. Various solid tumors, including renal cell carcinoma (RCC), readily secrete ligands for the chemokine receptor CXCR2...
September 19, 2017: Journal for Immunotherapy of Cancer
https://www.readbyqxmd.com/read/28922990/streamlined-system-for-conducting-in-vitro-studies-using-decellularized-kidney-scaffolds
#10
Andrew Reyes Padalhin, Chanmi Park, Byong-Taek Lee
Kidney regeneration is a complex process that can only be studied in vitro at a limited capacity due to the inherent structural and functional complexity of its tissues. Thus, a suitable platform for conducting cellular response and development should be established from decellularized tissues with intact microarchitecture. In this study, a modular streamlined system was developed to allow manageable handling and set-up of in vitro studies using decellularized rat kidneys. The system is composed of commercially available parts that can be reused, interchanged, and re-configured based on the desired experimental stage and process...
September 19, 2017: Tissue Engineering. Part C, Methods
https://www.readbyqxmd.com/read/28921387/analysis-of-24-genes-reveals-a-monogenic-cause-in-11-1-of-cases-with-steroid-resistant-nephrotic-syndrome-at-a-single-center
#11
Weizhen Tan, Svjetlana Lovric, Shazia Ashraf, Jia Rao, David Schapiro, Merlin Airik, Shirlee Shril, Heon Yung Gee, Michelle Baum, Ghaleb Daouk, Michael A Ferguson, Nancy Rodig, Michael J G Somers, Deborah R Stein, Asaf Vivante, Jillian K Warejko, Eugen Widmeier, Friedhelm Hildebrandt
BACKGROUND: Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of end-stage renal disease (ESRD) among patients manifesting at under 25 years of age. We performed mutation analysis using a high-throughput PCR-based microfluidic technology in 24 single-gene causes of SRNS in a cohort of 72 families, who presented with SRNS before the age of 25 years. METHODS: Within an 18-month interval, we obtained DNA samples, pedigree information, and clinical information from 77 consecutive children with SRNS from 72 different families seen at Boston Children's Hospital (BCH)...
September 18, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28919632/cd36-in-chronic-kidney-disease-novel-insights-and-therapeutic-opportunities
#12
REVIEW
Xiaochun Yang, Daryl M Okamura, Xifeng Lu, Yaxi Chen, John Moorhead, Zac Varghese, Xiong Z Ruan
CD36 (also known as scavenger receptor B2) is a multifunctional receptor that mediates the binding and cellular uptake of long-chain fatty acids, oxidized lipids and phospholipids, advanced oxidation protein products, thrombospondin and advanced glycation end products, and has roles in lipid accumulation, inflammatory signalling, energy reprogramming, apoptosis and kidney fibrosis. Renal CD36 is mainly expressed in tubular epithelial cells, podocytes and mesangial cells, and is markedly upregulated in the setting of chronic kidney disease (CKD)...
September 18, 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/28919587/human-leukocyte-antigen-class-i-and-ii-variants-in-yemeni-patients-with-chronic-renal-failure
#13
Mogahid Yahi'a Nassar, Hassan Abdulwahab Al-Shamahy, Abdullah Saleh Al-Samawi, Nagieb Waza'a Abu Asba, Ibrahiem Husain El-Nono, Haitham Abdulwahab Masood
BACKGROUND: Human leukocyte antigens (HLAs) are found to be significant genetic factors concerning the susceptibility of an individual to certain diseases. OBJECTIVE: To determine the association between variants of class I (A and B) and class II (DRB1) HLA alleles and chronic renal failure (CRF), compared with healthy controls, in Yemen. METHODS: A case-control study in the Urology and Nephrology Center at Al-Thawra University Hospital in Sana'a, Yemen was carried out between January 2013 and December 2015 and included 187 CRF patients, and 194 healthy controls visiting the same center for kidney donation...
September 2017: Iranian Journal of Immunology: IJI
https://www.readbyqxmd.com/read/28918587/genome-wide-association-studies-of-albuminuria-towards-genetic-stratification-in-diabetes
#14
REVIEW
Cristian Pattaro
Genome-wide association studies (GWAS) have been very successful in unraveling the polygenic structure of several complex diseases and traits. In the case of albuminuria, despite the large sample size achieved by some studies, results look sparse with a limited number of loci reported so far. This review searched for GWAS studies of albumin excretion, albuminuria, and proteinuria. The resulting picture sets elements of uniqueness for albuminuria GWAS with respect to other complex traits. So far, very few loci associated with albuminuria have been validated by means of genome-wide significant evidence or formal replication...
September 16, 2017: Journal of Nephrology
https://www.readbyqxmd.com/read/28918418/new-aspects-in-the-pathomechanism-of-diseases-of-civilization-particularly-psychosomatic-disorders-part-1-theoretical-background-of-a-hypothesis
#15
Andras Sikter, Zoltan Rihmer, Roberto de Guevara
The stress defence-cascade is mostly not biphasic as Cannon thought, the sympathicotonic stress response is preceded by a vagotonic phase called freeze response. Alteration of the carbon dioxide level plays an important role during defence-cascade as its changes interfere with stress hormones, e.g. with catecholamines, thus affecting the degree of arousal. In case of humans, learned behaviour dominates instead of instinctive, so the fight-or-flight often lags; the consequence can be persistent hypocapnia or hypercapnia...
June 2017: Neuropsychopharmacologia Hungarica
https://www.readbyqxmd.com/read/28916390/il-33-receptor-st2-deficiency-attenuates-renal-ischaemia-reperfusion-injury-in-euglycaemic-but-not-streptozotocin-induced-hyperglycaemic-mice
#16
M Sehnine, M Ferhat, S Sena, J M Gombert, J M Goujon, A Thierry, G Touchard, T Hauet, A Herbelin, S Hadjadj
AIM: Kidney hypoxia can predispose to the development of acute and chronic renal failure in diabetes. Ischaemia-reperfusion injury (IRI) causes inflammation, and diabetes is known to exacerbate this inflammatory response in the kidney, whereas alarmin IL-33 could act as an innate immune mediator during kidney IRI. Thus, the present study examined the impact of genetic IL-33 receptor ST2 deficiency (ST2-/-) on renal IRI in euglycaemic and hyperglycaemic mice. METHODS: Hyperglycaemia was induced with streptozotocin (STZ) in adult male C57BL/6JRj wild-type (WT) mice and ST2-/- mice...
September 12, 2017: Diabetes & Metabolism
https://www.readbyqxmd.com/read/28916377/clinical-and-molecular-characterization-of-two-chinese-patients-with-type-2-congenital-generalized-lipodystrophy
#17
Ruimin Chen, Xin Yuan, Jian Wang, Ying Zhang
BACKGROUND: Type 2 congenital generalized lipodystrophy (CGL2, OMIM 269700) is a rare autosomal recessive disease, characterized by the generalized absence of adipose tissue at birth or in early infancy. Pathogenic variants in BSCL2 gene have been reported to be responsible for CGL2. The aim of this study is to analyze the clinical and genetic characteristics of two Chinese patients with CGL2, and with particular focus on the BSCL2 gene sequence variants. METHODS: Medical history, clinical manifestations, physical examination, laboratory data, and ultrasonography findings were analyzed for the two patients with CGL2...
September 12, 2017: Gene
https://www.readbyqxmd.com/read/28915630/casp8-652-6n-insertion-deletion-polymorphism-and-overall-cancer-risk-evidence-from-49-studies
#18
Jiarong Cai, Qingjian Ye, Suling Luo, Ze Zhuang, Kui He, Zhen-Jian Zhuo, Xiaochun Wan, Juan Cheng
The CASP8 -652 6N insertion/deletion (I/D) polymorphism reduces expression of caspase 8. We conducted a meta-analysis to clarify the relationship between this polymorphism and cancer risk. Eligible articles were retrieved from PubMed, EMBASE, CNKI, and WANFANG databases through February 2017. A total of 33 articles with 49 studies, including 33,494 cases and 36,397 controls, were analyzed. We found that the CASP8 -652 6N ins/del polymorphism was associated with decreased overall cancer risk in five genetic models [DD vs...
August 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28915570/il1-genes-polymorphism-and-the-risk-of-renal-cell-carcinoma-in-chinese-han-population
#19
Fei Wang, Yingai Zhang, Shunlan Wang, Yadong Zhang, Dinglan Wu, Chong Zhang, Yuanhui Gao, Xi Liu, Weifu Wang, Shufang Zhang
Renal cell carcinoma (RCC) is considered a cytokine-responsive tumor. However, with the lack of diagnostic screening biomarkers, early diagnosis of RCC is challenging. Our study was investigated the association of IL1 gene polymorphisms and RCC risk. We conducted a case-control study of 291 RCC cases and 463 controls to evaluation the IL1RN of single nucleotide polymorphisms (SNPs) on RCC risk. We selection of 16 SNPs in IL1RN, IL1A, IL1B genes were analyzed. Using the chi-squared (χ(2)) test and genetic model analysis, we found an association with RCC risk for five SNPs [rs3783550 (IL1A), rs3783546 (IL1A), rs1609682 (IL1A), rs3783521 (IL1A), and rs1143623 (IL1B)] and increased the risk of RCC...
August 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28914984/hypercalcemic-disorders-in-children
#20
REVIEW
Victoria J Stokes, Morten F Nielsen, Fadil M Hannan, Rajesh V Thakker
Hypercalcemia is defined as a serum calcium concentration that is greater than 2 standard deviations above the normal mean, which in children may vary with age and sex, reflecting changes in the normal physiology at each developmental stage. Hypercalcemic disorders in children may present with hypotonia, poor feeding, vomiting, constipation, abdominal pain, lethargy, polyuria, dehydration, failure to thrive and seizures. In severe cases renal failure, pancreatitis and reduced consciousness may also occur and older children and adolescents may present with psychiatric symptoms...
September 15, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
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