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Renal genetics

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https://www.readbyqxmd.com/read/29453131/the-incidence-of-associated-abnormalities-in-patients-with-sacrococcygeal-teratoma
#1
Marijke E B Kremer, Jessica F Althof, Joep P M Derikx, Robertine van Baren, Hugo A Heij, Marc H W A Wijnen, René M H Wijnen, David C van der Zee, L W Ernest van Heurn
BACKGROUND: Gross genetic causes for SCT are unknown; however, it might be associated with other abnormalities. We assessed the incidence of associated abnormalities in a large national cohort of neonates with SCT and aimed to identify predictive risk factors. PROCEDURE: The medical records were reviewed of 235 consecutive neonates with SCT treated at the six pediatric surgical centers in the Netherlands from 1970 to 2010. Potential risk factors for associated abnormalities analyzed included sex, gestational age, tumor-volume/histology and Altman-classification...
January 31, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29453109/genetic-basis-of-diabetic-kidney-disease-and-other-diabetic-complications
#2
REVIEW
Niina Sandholm, Per-Henrik Groop
Diabetic kidney disease and other long-term complications are common in diabetes, and comprise the main cause of co-morbidity and premature mortality in individuals with diabetes. While familial clustering and heritability have been reported for all diabetic complications, the genetic background and the molecular mechanisms remain poorly understood. In recent years, genome-wide association studies have identified a few susceptibility loci for the renal complications as well as for diabetic retinopathy, diabetic cardiovascular disease and mortality...
February 13, 2018: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/29449955/prospects-for-precision-medicine-in-glomerulonephritis-treatment
#3
REVIEW
Yulu Cherry Liu, Justin Chun
Background: Glomerulonephritis (GN) consists of a group of kidney diseases that are categorized based on shared histopathological features. The current classifications for GN make it difficult to distinguish the individual variability in presentation, disease progression, and response to treatment. GN is a significant cause of end-stage renal disease (ESRD), and improved therapies are desperately needed because current immunosuppressive therapies sometimes lack efficacy and can lead to significant toxicities...
2018: Canadian Journal of Kidney Health and Disease
https://www.readbyqxmd.com/read/29448245/a-genetic-variant-associated-with-the-five-vascular-diseases-is-a-distal-regulator-of-endothelin-1-gene-expression
#4
Ernesto L Schiffrin
Gupta et al. [Cell 2017; 170: 522-533] have shown that a genetic variant associated with the 5 vascular diseases is a distal regulator of endothelin (ET)-1 gene (EDN1) expression. A common single nucleotide polymorphism (SNP) in the third intron of the PHACTR1 gene, rs9349379, is the potential variant responsible for increased risk of coronary artery disease, and lower risk of migraine, carotid dissection, fibromuscular dysplasia, and hypertension. Since ET-1 acts through ET type B receptors (ETBR) on endothelial cells to stimulate the production of nitric oxide and prostacyclin and induce vasodilation, this may contribute to these findings...
February 15, 2018: Nephron
https://www.readbyqxmd.com/read/29447652/pyoderma-gangrenosum-acne-and-suppurative-hidradenitis-syndrome-in-end-stage-renal-disease-successfully-treated-with-adalimumab
#5
J De Wet, H F Jordaan, S M Kannenberg, B Tod, B Glanzmann, W I Visser
PASH syndrome (pyoderma gangrenosum, acne, and suppurative hidradenitis) forms part of the spectrum of autoinflammatory diseases. We report an unusual case of PASH syndrome in a patient with end-stagerenal disease (ESRD) who was successfully treated with the tumor necrosis factor inhibitor, adalimumab. The case underscores the challenges associatedwith the treatment of PASH syndrome as well as the ongoing search to establish a genetic basis for the syndrome. Renal impairment has been reported in association with pyoderma gangrenosum but has notbeen described in PASH syndrome...
December 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/29446737/gene-modified-mesenchymal-stem-cell-based-therapy-in-renal-ischemia-reperfusion-injury
#6
Hongbo Xu, Cheng Chen, Linkun Hu, Jianquan Hou
Acute kidney injury (AKI) is a common syndrome in the clinic and has become a worldwide public health problem. Renal ischemia-reperfusion injury (IRI) is the most common cause of AKI. So far, effective treatment is still lacking for renal IRI, resulting in a high mortality rate of AKI. Mesenchymal stem cells (MSCs), considered as a promising candidate for tissue repair and regenerative medicine have aroused an increasing concern in recent years for the capacity of self-renewal and multi-lineage differentiation...
February 13, 2018: Current Gene Therapy
https://www.readbyqxmd.com/read/29446736/gene-therapy-in-kidney-transplantation-evidence-of-efficacy-and-future-directions
#7
Jiawei Li, Guisheng Qi, Guowei Tu, Cheng Yang, Ruiming Rong
Allograft loss remains a severe clinical problem after kidney transplantation. The molecular mechanism of graft loss is a complex process involving T and/or B cell activation, inflammation responses, autophagy and apoptosis. Since these pathways are involved in immune responses in kidney transplant rejection, application of genetic interference to inhibit specific pathways could present an effective targeted gene therapy method. Recent studies have successfully attempted to use gene therapy to target the key molecules involved in immune responses during transplantation...
February 13, 2018: Current Gene Therapy
https://www.readbyqxmd.com/read/29446010/phosphaturic-mesenchymal-tumors-what-an-endocrinologist-should-know
#8
REVIEW
J M Boland, P J Tebben, A L Folpe
Tumor-induced osteomalacia (TIO), also known as "oncogenic osteomalacia", is a rare cause of osteomalacia. TIO often has an insidious onset characterized clinically by progressive muscle weakness and bone pain with fractures. The hallmark biochemical finding is a persistent low serum phosphorus concentration due to renal phosphate wasting. The vast majority of cases of TIO result from production of the phosphaturic hormone fibroblast growth factor 23 (FGF23) by a histologically distinctive mesenchymal tumor, termed "phosphaturic mesenchymal tumor" (PMT)...
February 14, 2018: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29445114/kinesin-1-regulates-cilia-length-through-an-interaction-with-the-bardet-biedl-syndrome-related-protein-ccdc28b
#9
Rossina Novas, Magdalena Cardenas-Rodriguez, Paola Lepanto, Matías Fabregat, Magela Rodao, María Inés Fariello, Mauricio Ramos, Camila Davison, Gabriela Casanova, Lucía Alfaya, Federico Lecumberry, Gualberto González-Sapienza, Florencia Irigoín, Jose L Badano
Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal disease and mental retardation. CCDC28B is a BBS-associated protein that we have previously shown plays a role in cilia length regulation whereby its depletion results in shortened cilia both in cells and Danio rerio (zebrafish). At least part of that role is achieved by its interaction with the mTORC2 component SIN1, but the mechanistic details of this interaction and/or additional functions that CCDC28B might play in the context of cilia remain poorly understood...
February 14, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29444170/genotypic-and-phenotypic-characterization-of-the-sdccag8tn-sb-tyr-2161b-ca1c2ove-mouse-model
#10
Katie Weihbrecht, Wesley A Goar, Calvin S Carter, Val C Sheffield, Seongjin Seo
Nephronophthisis-related ciliopathies (NPHP-RC) are a group of disorders that present with end-stage renal failure in childhood/adolescence, kidney cysts, retinal degeneration, and cerebellar hypoplasia. One disorder that shares clinical features with NPHP-RC is Bardet-Biedl Syndrome (BBS). Serologically defined colon cancer antigen 8 (SDCCAG8; also known as NPHP10 and BBS16) is an NPHP gene that is also associated with BBS. To better understand the patho-mechanisms of NPHP and BBS caused by loss of SDCCAG8 function, we characterized an SDCCAG8 mouse model (Sdccag8Tn(sb-Tyr)2161B...
2018: PloS One
https://www.readbyqxmd.com/read/29441214/syndromic-hearing-loss-a-brief-review-of-common-presentations-and-genetics
#11
REVIEW
John D Gettelfinger, John P Dahl
Congenital hearing loss is one of the most common birth defects worldwide, with around 1 in 500 people experiencing some form of severe hearing loss. While over 400 different syndromes involving hearing loss have been described, it is important to be familiar with a wide range of syndromes involving hearing loss so an early diagnosis can be made and early intervention can be pursued to maximize functional hearing and speech-language development in the setting of verbal communication. This review aims to describe the presentation and genetics for some of the most frequently occurring syndromes involving hearing loss, including neurofibromatosis type 2, branchio-oto-renal syndrome, Treacher Collins syndrome, Stickler syndrome, Waardenburg syndrome, Pendred syndrome, Jervell and Lange-Nielsen syndrome, Usher syndromes, Refsum disease, Alport syndrome, MELAS, and MERRF...
March 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29439807/could-notch-signaling-pathway-be-a-potential-therapeutic-option-in-renal-diseases
#12
Laura Marquez-Exposito, Elena Cantero-Navarro, Carolina Lavoz, Marta Fierro-Fernández, Jonay Poveda, Sandra Rayego-Mateos, Raúl R Rodrigues-Diez, José Luis Morgado-Pascual, Macarena Orejudo, Sergio Mezzano, Marta Ruiz-Ortega
Notch pathway regulates key processes in the kidney, involved in embryonic development and tissue damage. In many human chronic renal diseases a local activation of Notch pathway has been described, suggesting that several components of Notch pathway could be considered as biomarkers of renal damage. Experimental studies by genetic modulation of Notch components or pharmacological approaches by γ-secretase inhibitors have demonstrated the role of this pathway in renal regeneration renal, podocyte apoptosis, proliferation and fibroblasts activation, and induction of epithelial to mesenchymal transition of tubular epithelial cells...
February 10, 2018: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://www.readbyqxmd.com/read/29439446/the-t2238c-human-atrial-natriuretic-peptide-molecular-variant-and-the-risk-of-cardiovascular-diseases
#13
REVIEW
Speranza Rubattu, Sebastiano Sciarretta, Simona Marchitti, Franca Bianchi, Maurizio Forte, Massimo Volpe
Atrial natriuretic peptide (ANP) is a cardiac hormone which plays important functions to maintain cardio-renal homeostasis. The peptide structure is highly conserved among species. However, a few gene variants are known to fall within the human ANP gene. The variant rs5065 (T2238C) exerts the most substantial effects. The T to C transition at the 2238 position of the gene (13-23% allele frequency in the general population) leads to the production of a 30-, instead of 28-, amino-acid-long α-carboxy-terminal peptide...
February 11, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29437896/susceptibility-to-hypertensive-renal-disease-in-the-spontaneously-hypertensive-rat-is-influenced-by-2-loci-affecting-blood-pressure-and-immunoglobulin-repertoire
#14
Isha S Dhande, Stacy M Cranford, Yaming Zhu, Sterling C Kneedler, M John Hicks, Scott E Wenderfer, Michael C Braun, Peter A Doris
High blood pressure exerts its deleterious effects on health largely through acceleration of end-organ diseases. Among these, progressive loss of renal function is particularly important, not only for the direct consequences of kidney damage but also because loss of renal function is associated with amplification of other adverse cardiovascular outcomes. Genetic susceptibility to hypertension and associated end-organ disease is non-Mendelian in both humans and in a rodent model, the spontaneously hypertensive rat (SHR)...
February 5, 2018: Hypertension
https://www.readbyqxmd.com/read/29437894/genetic-susceptibility-to-hypertension-induced-renal-injury
#15
EDITORIAL
Richard J Roman, Fan Fan
No abstract text is available yet for this article.
February 5, 2018: Hypertension
https://www.readbyqxmd.com/read/29436846/effect-of-dimethyl-fumarate-on-renal-disease-progression-in-a-genetic-ortholog-of-nephronophthisis
#16
Oliver Oey, Padmashree Rao, Magdalena Luciuk, Carly Mannix, Natasha M Rogers, Priyanka Sagar, Annette Wong, Gopala Rangan
Dimethyl fumarate is an FDA-approved oral immunomodulatory drug with anti-inflammatory properties that induces the upregulation of the anti-oxidant transcription factor, nuclear factor erythroid-derived factor 2. The aim of this study was to determine the efficacy of dimethyl fumarate on interstitial inflammation and renal cyst growth in a preclinical model of nephronophthisis. Four-week-old female Lewis polycystic kidney disease (a genetic ortholog of human nephronophthisis-9) rats received vehicle (V), 10 mg/kg (D10) or 30 mg/kg (D30) ( n = 8-9 each) dimethyl fumarate in drinking water for eight weeks...
January 1, 2018: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/29435868/ambulatory-blood-pressure-profiles-in-familial-dysautonomia
#17
Lior Goldberg, Bat-El Bar-Aluma, Alex Krauthammer, Ori Efrati, Yehonatan Sharabi
OBJECTIVE: Familial dysautonomia (FD) is a rare genetic disease that involves extreme blood pressure fluctuations secondary to afferent baroreflex failure. The diurnal blood pressure profile, including the average, variability, and day-night difference, may have implications for long-term end organ damage. The purpose of this study was to describe the circadian pattern of blood pressure in the FD population and relationships with renal and pulmonary function, use of medications, and overall disability...
February 12, 2018: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/29435763/functions-of-vitamin-d-in-bone
#18
REVIEW
D Goltzman
Vitamin D, synthesized in the skin or absorbed from the diet, undergoes multi-step enzymatic conversion to its active form, 1,25-dihydroxy vitamin D [1,25(OH) 2 D], followed by interaction with the vitamin D receptor (VDR), to modulate target gene expression. Loss-of function mutations in the genes encoding the enzymes regulating these processes, or in the VDR, result in human diseases, which have demonstrated the paramount role of 1,25(OH) 2 D in mineral and skeletal homeostasis. Mouse genetics has been used to create disease phenocopies which have produced considerable insight into the mechanisms of 1,25(OH) 2 D regulation of mineral and skeletal metabolism...
February 12, 2018: Histochemistry and Cell Biology
https://www.readbyqxmd.com/read/29430193/tolvaptan-in-the-treatment-of-autosomal-dominant-polycystic-kidney-disease-patient-selection-and-special-considerations
#19
REVIEW
Laia Sans-Atxer, Dominique Joly
Standard of care therapies for autosomal dominant polycystic kidney disease (ADPKD) may limit morbidity and mortality due to disease-related complications, but they do not delay disease progression. Tolvaptan, a selective vasopressin V2 receptor antagonist, delays the increase in kidney volume (a surrogate marker for disease progression), slows the decline in renal function, and reduces pain in ADPKD patients with relatively preserved renal function. The most common adverse events of tolvaptan are linked to its aquaretic effect, and rare cases of idiosyncratic hepatitis were observed...
2018: International Journal of Nephrology and Renovascular Disease
https://www.readbyqxmd.com/read/29429748/the-syndrome-of-tubulointerstitial-nephritis-with-uveitis-tinu
#20
REVIEW
David M Clive, Vijay K Vanguri
The syndrome of tubulointerstitial nephritis and uveitis (TINU) is a multisystemic autoimmune disorder that may occur in response to various environmental triggers, including drugs and microbial pathogens. Evidence exists of HLA antigen-related genetic predisposition to developing TINU. The resulting inflammation affects chiefly the ocular uvea and renal tubules, although other organs may be involved. TINU is uncommon; only about 200 cases are on record since its original description 40 years ago, although it is possible that new ones are no longer being reported...
February 8, 2018: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
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