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Articles de revues sur le sujet « Autosomal Recessive Polycystic Kidney Disease ASH »

Auteur : Grafiati
Publié le 9 mars 2023
Mis à jour le 10 mars 2023

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1

Zaika, Oleg, Mykola Mamenko, Jonathan Berrout, Nabila Boukelmoune, Roger G. O'Neil et Oleh Pochynyuk. « TRPV4 Dysfunction Promotes Renal Cystogenesis in Autosomal Recessive Polycystic Kidney Disease ». Journal of the American Society of Nephrology 24, no 4 (14 février 2013) : 604–16. http://dx.doi.org/10.1681/asn.2012050442.

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Rossetti, Sandro, et Peter C. Harris. « Genotype–Phenotype Correlations in Autosomal Dominant and Autosomal Recessive Polycystic Kidney Disease : Figure 1. » Journal of the American Society of Nephrology 18, no 5 (11 avril 2007) : 1374–80. http://dx.doi.org/10.1681/asn.2007010125.

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Tan, Adrian Y., Tuo Zhang, Alber Michaeel, Jon Blumenfeld, Genyan Liu, Wanying Zhang, Zhengmao Zhang et al. « Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease ». Journal of the American Society of Nephrology 29, no 8 (24 juillet 2018) : 2139–56. http://dx.doi.org/10.1681/asn.2017080878.

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BackgroundAutosomal dominant polycystic kidney disease (ADPKD) is a ciliopathy caused by mutations in PKD1 and PKD2 that is characterized by renal tubular epithelial cell proliferation and progressive CKD. Although the molecular mechanisms involved in cystogenesis are not established, concurrent inactivating constitutional and somatic mutations in ADPKD genes in cyst epithelium have been proposed as a cellular recessive mechanism.MethodsWe characterized, by whole-exome sequencing (WES) and long-range PCR techniques, the somatic mutations in PKD1 and PKD2 genes in renal epithelial cells from 83 kidney cysts obtained from nine patients with ADPKD, for whom a constitutional mutation in PKD1 or PKD2 was identified.ResultsComplete sequencing data by long-range PCR and WES was available for 63 and 65 cysts, respectively. Private somatic mutations of PKD1 or PKD2 were identified in all patients and in 90% of the cysts analyzed; 90% of these mutations were truncating, splice site, or in-frame variations predicted to be pathogenic mutations. No trans-heterozygous mutations of PKD1 or PKD2 genes were identified. Copy number changes of PKD1 ranging from 151 bp to 28 kb were observed in 12% of the cysts. WES also identified significant mutations in 53 non-PKD1/2 genes, including other ciliopathy genes and cancer-related genes.ConclusionsThese findings support a cellular recessive mechanism for cyst formation in ADPKD caused primarily by inactivating constitutional and somatic mutations of PKD1 or PKD2 in kidney cyst epithelium. The potential interactions of these genes with other ciliopathy- and cancer-related genes to influence ADPKD severity merits further evaluation.
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Olson, Rory J., Katharina Hopp, Harrison Wells, Jessica M. Smith, Jessica Furtado, Megan M. Constans, Diana L. Escobar, Aron M. Geurts, Vicente E. Torres et Peter C. Harris. « Synergistic Genetic Interactions between Pkhd1 and Pkd1 Result in an ARPKD-Like Phenotype in Murine Models ». Journal of the American Society of Nephrology 30, no 11 (19 août 2019) : 2113–27. http://dx.doi.org/10.1681/asn.2019020150.

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BackgroundAutosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD) are genetically distinct, with ADPKD usually caused by the genes PKD1 or PKD2 (encoding polycystin-1 and polycystin-2, respectively) and ARPKD caused by PKHD1 (encoding fibrocystin/polyductin [FPC]). Primary cilia have been considered central to PKD pathogenesis due to protein localization and common cystic phenotypes in syndromic ciliopathies, but their relevance is questioned in the simple PKDs. ARPKD’s mild phenotype in murine models versus in humans has hampered investigating its pathogenesis.MethodsTo study the interaction between Pkhd1 and Pkd1, including dosage effects on the phenotype, we generated digenic mouse and rat models and characterized and compared digenic, monogenic, and wild-type phenotypes.ResultsThe genetic interaction was synergistic in both species, with digenic animals exhibiting phenotypes of rapidly progressive PKD and early lethality resembling classic ARPKD. Genetic interaction between Pkhd1 and Pkd1 depended on dosage in the digenic murine models, with no significant enhancement of the monogenic phenotype until a threshold of reduced expression at the second locus was breached. Pkhd1 loss did not alter expression, maturation, or localization of the ADPKD polycystin proteins, with no interaction detected between the ARPKD FPC protein and polycystins. RNA-seq analysis in the digenic and monogenic mouse models highlighted the ciliary compartment as a common dysregulated target, with enhanced ciliary expression and length changes in the digenic models.ConclusionsThese data indicate that FPC and the polycystins work independently, with separate disease-causing thresholds; however, a combined protein threshold triggers the synergistic, cystogenic response because of enhanced dysregulation of primary cilia. These insights into pathogenesis highlight possible common therapeutic targets.
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Rohatgi, R. « Na Transport in Autosomal Recessive Polycystic Kidney Disease (ARPKD) Cyst Lining Epithelial Cells ». Journal of the American Society of Nephrology 14, no 4 (1 avril 2003) : 827–36. http://dx.doi.org/10.1097/01.asn.0000056481.66379.b2.

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Bergmann, C. « Spectrum of Mutations in the Gene for Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1) ». Journal of the American Society of Nephrology 14, no 1 (1 janvier 2003) : 76–89. http://dx.doi.org/10.1097/01.asn.0000039578.55705.6e.

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Zhang, Zhengmao, Hanwen Bai, Jon Blumenfeld, Andrew B. Ramnauth, Irina Barash, Martin Prince, Adrian Y. Tan et al. « Detection of PKD1 and PKD2 Somatic Variants in Autosomal Dominant Polycystic Kidney Cyst Epithelial Cells by Whole-Genome Sequencing ». Journal of the American Society of Nephrology 32, no 12 (29 octobre 2021) : 3114–29. http://dx.doi.org/10.1681/asn.2021050690.

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BackgroundAutosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the development of multiple cysts in the kidneys. It is often caused by pathogenic mutations in PKD1 and PKD2 genes that encode polycystin proteins. Although the molecular mechanisms for cystogenesis are not established, concurrent inactivating germline and somatic mutations in PKD1 and PKD2 have been previously observed in renal tubular epithelium (RTE).MethodsTo further investigate the cellular recessive mechanism of cystogenesis in RTE, we conducted whole-genome DNA sequencing analysis to identify germline variants and somatic alterations in RTE of 90 unique kidney cysts obtained during nephrectomy from 24 unrelated participants.ResultsKidney cysts were overall genomically stable, with low burdens of somatic short mutations or large-scale structural alterations. Pathogenic somatic “second hit” alterations disrupting PKD1 or PKD2 were identified in 93% of the cysts. Of these, 77% of cysts acquired short mutations in PKD1 or PKD2; specifically, 60% resulted in protein truncations (nonsense, frameshift, or splice site) and 17% caused non-truncating mutations (missense, in-frame insertions, or deletions). Another 18% of cysts acquired somatic chromosomal loss of heterozygosity (LOH) events encompassing PKD1 or PKD2 ranging from 2.6 to 81.3 Mb. 14% of these cysts harbored copy number neutral LOH events, while the other 3% had hemizygous chromosomal deletions. LOH events frequently occurred at chromosomal fragile sites, or in regions comprising chromosome microdeletion diseases/syndromes. Almost all somatic “second hit” alterations occurred at the same germline mutated PKD1/2 gene.ConclusionsThese findings further support a cellular recessive mechanism for cystogenesis in ADPKD primarily caused by inactivating germline and somatic variants of PKD1 or PKD2 genes in kidney cyst epithelium.
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Wang, S. « The Autosomal Recessive Polycystic Kidney Disease Protein Is Localized to Primary Cilia, with Concentration in the Basal Body Area ». Journal of the American Society of Nephrology 15, no 3 (1 mars 2004) : 592–602. http://dx.doi.org/10.1097/01.asn.0000113793.12558.1d.

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Fon Gabršček, Anja, et Rina Rus. « AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE ». Slovenska pediatrija, revija pediatrov Slovenije in specialistov šolske ter visokošolske medicine Slovenije 29, no 1 (2022) : 17–21. http://dx.doi.org/10.38031/slovpediatr-2022-1-03en.

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Parfrey, Patrick S. « Autosomal-recessive polycystic kidney disease ». Kidney International 67, no 4 (avril 2005) : 1638–48. http://dx.doi.org/10.1111/j.1523-1755.2005.00246.x.

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Zerres, K., S. Rudnik-Schoneborn, C. Steinkamm et G. Mucher. « Autosomal recessive polycystic kidney disease ». Nephrology Dialysis Transplantation 11, supp6 (1 janvier 1996) : 29–33. http://dx.doi.org/10.1093/ndt/11.supp6.29.

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Kaplan, Bernard S., J. Fay, Vanita Shah, Michael J. Dillon et T. Martin Barratt. « Autosomal recessive polycystic kidney disease ». Pediatric Nephrology 3, no 1 (1989) : 43–49. http://dx.doi.org/10.1007/bf00859625.

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Zerres, K., Sabine Rudnik-Schöneborn, Carsten Steinkamm, Jutta Becker et Gabi Mücher. « Autosomal recessive polycystic kidney disease ». Journal of Molecular Medicine 76, no 5 (30 mars 1998) : 303–9. http://dx.doi.org/10.1007/s001090050221.

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Adrian, Dumitru Vasile, Maria Sajin et Mariana Costache. « Autosomal Recessive Polycystic Kidney Disease (ARPKD) ». Medical Image Database 1, no 1 (18 novembre 2018) : 13–14. http://dx.doi.org/10.33695/mid.v1i1.9.

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Autosomal recessive polycystic kidney disease (ARPKD) is an important inherited cause of chronic kidney disease with an estimated incidence of 1 in 20,000 live births [1-3]. Mutations of the PKHD1 (polycystic kidney and hepatic disease 1) gene located on chromosome 6p12, are responsible for the entire spectrum of ARPKD [2]. Almost 40% of all affected cases are either stillborn or will die in the neonatal period, due to respiratory insufficiency or kidney failure. In most cases, this disease is accompanied by congenital hepatic fibrocystic lesions (specifically malformation of the liver plate -Meyenburg complex) or by Caroli syndrome [3]. We report a case of a newborns with ARPKD who died within 2 days after birth. Autopsy was performed in the Department of Pathology of the University Emergency Hospital in Bucharest. After a thorough, we established the diagnosis of ARPKD based on specific histological features of this disease, which, as in our case, may establish the final diagnosis without further need for genetic testing. Gross examination revealed hugely enlarged kidneys with cystically dilated collecting ducts that replaced the renal parenchyma almost completely (Figure1). The lungs were mildly hypoplastic. Microscopic examination confirmed the suspicion and showed typical features of ARPKD: numerous radially elongated cysts lined by cuboidal epithelium, decreased renal parenchyma and few restant rudimentary glomeruli (Figure2). The liver showed dilated portal spaces, with multiple irregularly branching bile ducts and extensive fibrosis consistent with Meyenburg complex (Figure3), classically associated with polycystic liver disease.
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Herman, T. E., et M. J. Siegel. « Neonatal autosomal recessive polycystic kidney disease ». Journal of Perinatology 28, no 8 (31 juillet 2008) : 584–85. http://dx.doi.org/10.1038/jp.2008.40.

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Oh, Soo, Rabeet Khan et Ahmed Ziada. « Polycystic kidney disease ». InnovAiT : Education and inspiration for general practice 13, no 6 (1 avril 2020) : 326–35. http://dx.doi.org/10.1177/1755738020910762.

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Polycystic kidney disease (PKD) is a monogenic, hereditary disorder of the kidneys that leads to fluid-filled cysts within the renal tubes. It is one of the most common causes of end-stage renal failure. There are two types, the more common autosomal dominant (ADPKD) and the rarer autosomal recessive (ARPKD). ADPKD mostly presents in adulthood, whereas ARPKD is usually detected during antenatal screening or as a neonate. This article will focus on key points to understand and consider for the holistic management of PKD.
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Dell, Katherine M., Matthew Matheson, Erum A. Hartung, Bradley A. Warady, Susan L. Furth, Alvaro Muñoz, Allison Dart et al. « Kidney Disease Progression in Autosomal Recessive Polycystic Kidney Disease ». Journal of Pediatrics 171 (avril 2016) : 196–201. http://dx.doi.org/10.1016/j.jpeds.2015.12.079.

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Andreeva, E. F., et N. D. Savenkova. « Treatment of autosomal recessive and autosomal dominant polycystic kidney disease ». Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 64, no 2 (15 mai 2019) : 22–29. http://dx.doi.org/10.21508/1027-4065-2019-64-2-22-29.

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The article reflects the genetic variants of polycystic kidney disease, describes the modern strategy for the treatment of polycystic kidney disease in children and adults. The authors present the results of clinical trials of vasopressin V2 receptor antagonists (tolvaptan, liksivaptan), a multi-kinase inhibitor (tezevatinib), somatostatin analogues (lankreotide, octreotide), statins (pravastatin), mTOR inhibitors (everolimus, sirolimus), metformin in patients with autosomal recessive and autosomal polycystic kidney disease. The authors discuss the factors determining the prognosis and outcome of these diseases.
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Stevanovic, Radmila, Sofija Glumac, Jovanka Trifunovic, Biljana Medjo, Tijana Nastasovic et Jasmina Markovic-Lipkovski. « Autosomal recessive polycystic kidney disease : Case report ». Srpski arhiv za celokupno lekarstvo 137, no 5-6 (2009) : 288–91. http://dx.doi.org/10.2298/sarh0906288s.

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Introduction. Autosomal recessive polycystic kidney disease is the most common heritable cystic renal disease occurring in infancy and childhood. The clinical spectrum of signs and symptoms of this disease is widely variable ranging from perinatal death to a milder progressive form, which cannot be diagnosed until adolescence. Case Outline. A female neonate born in the 35th/36th week of gestation. The findings of all standard medical examinations of the neonate done by the mother were within normal limits. A few days before delivery physicians at a regional medical centre revealed enlarged kidneys and oligohydramnios. The delivery was performed by caesarean section. The vital functions of the newborn were in critical condition so that she was referred to the University Children's Hospital in Belgrade. Soon after admission, despite all undertaken measures, the infant died. Autopsy was done at the Institute of Pathology of the Belgrade Clinical Centre. All findings were typical for autosomal recessive polycystic kidney disease. The kidneys were hugely enlarged, with cystically dilated collecting ducts that almost completely replaced the renal parenchyma. The lungs were mildly hypoplastic. The liver showed dilated portal spaces, with multiple irregularly branching bile ducts. The cause of death was respiratory distress and renal failure. Conclusion. In all cases of congenital anomalies of the kidney with lethal ending it is necessary to perform autopsy and aimed genetic investigation.
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Andreeva, Elvira F., Nadejda D. Savenkova, Mohamed A. Tilouche, Natalya Y. Natochina et Igor V. Dug. « Autosomal-recessive polycystic kidney disease in children ». Pediatrician (St. Petersburg) 7, no 4 (15 décembre 2016) : 45–49. http://dx.doi.org/10.17816/ped7445-49.

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The aim of the study was to assess the features of development of renal and extrarenal cysts, arterial hypertension, syndrome of portal hypertension in autosomal recessive polycystic kidney disease (ARPKD) in children. Patients and me­thods. With the aim of establishing the type of inheritance of polycystic kidney disease the genealogical analysis of 12 families, clinical ultrasound of the kidneys and abdominal organs, computed tomography. The study included 14 children with ARPKD. Conducted follow-up study of 14 children with ARPKD to determine the age by the detection of cysts based on ultrasound, the features of the initial clinical manifestations and course, complications and outcome.Results: the Age of the children back to the time of detection of the cysts in the kidneys based on ultrasound when ARPKD was 2.3 ± 0.4 month. Identified a high incidence of arterial hypertension in neonates and infants with ARPKD at 92.9%. Extrarenal location of the cysts is set at 71.4%. Syndrome of portal hypertension, bleeding from varicose veins of esophagus and stomach, melanau installed in 5 (35,7%) children. Of the 14 in 5 (35,7%) patients diagnosed ARPKD children with liver fibrosis, which has a favorable prognosis without the formation of renal failure in infants and early childhood, 9 (64,3%) diagnosed with classic ARPKD in neonates and infants that is characterized by progression to end-stage renal disease in the first year of life.
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Hafer, Ashley S., et Richard M. Conran. « Educational Case : Autosomal Recessive Polycystic Kidney Disease ». Academic Pathology 4 (1 janvier 2017) : 237428951771856. http://dx.doi.org/10.1177/2374289517718560.

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The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology. For additional information, and a full list of learning objectives for all three competencies, see http://journals.sagepub.com/doi/10.1177/2374289517715040 .
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Fonck, Catherine, Dominique Chauveau, Marie‐France Gagnadoux, Yves Pirson et Jean‐Pierre Grünfeld. « Autosomal recessive polycystic kidney disease in adulthood ». Nephrology Dialysis Transplantation 16, no 8 (1 août 2001) : 1648–52. http://dx.doi.org/10.1093/ndt/16.8.1648.

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Banks, Nicole, Joy Bryant, Roxanne Fischer, Marjan Huizing, William A. Gahl et Meral Gunay-Aygun. « Pregnancy in autosomal recessive polycystic kidney disease ». Archives of Gynecology and Obstetrics 291, no 3 (12 septembre 2014) : 705–8. http://dx.doi.org/10.1007/s00404-014-3445-8.

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Shneider, Benjamin L., et Margret S. Magid. « Liver disease in autosomal recessive polycystic kidney disease ». Pediatric Transplantation 9, no 5 (octobre 2005) : 634–39. http://dx.doi.org/10.1111/j.1399-3046.2005.00342.x.

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Luoto, Topi T., Mikko P. Pakarinen, Timo Jahnukainen et Hannu Jalanko. « Liver Disease in Autosomal Recessive Polycystic Kidney Disease ». Journal of Pediatric Gastroenterology and Nutrition 59, no 2 (août 2014) : 190–96. http://dx.doi.org/10.1097/mpg.0000000000000422.

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Zingg-Schenk, Andrea, Jürg Caduff, Silvia Azzarello-Burri, Carsten Bergmann, Joost P. H. Drenth et Thomas J. Neuhaus. « Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease ». Pediatric Nephrology 27, no 7 (14 mars 2012) : 1197–200. http://dx.doi.org/10.1007/s00467-012-2137-5.

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Frank, Valeska, Klaus Zerres et Carsten Bergmann. « Transcriptional Complexity in Autosomal Recessive Polycystic Kidney Disease ». Clinical Journal of the American Society of Nephrology 9, no 10 (7 août 2014) : 1729–36. http://dx.doi.org/10.2215/cjn.00920114.

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Ko, Jae Sung. « Caroli Syndrome with Autosomal Recessive Polycystic Kidney Disease ». Korean Journal of Gastroenterology 57, no 1 (2011) : 51. http://dx.doi.org/10.4166/kjg.2011.57.1.51.

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Cordido, Adrian, Marta Vizoso-Gonzalez et Miguel A. Garcia-Gonzalez. « Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease ». International Journal of Molecular Sciences 22, no 12 (17 juin 2021) : 6523. http://dx.doi.org/10.3390/ijms22126523.

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Autosomal recessive polycystic kidney disease (ARPKD) is a rare disorder and one of the most severe forms of polycystic kidney disease, leading to end-stage renal disease (ESRD) in childhood. PKHD1 is the gene that is responsible for the vast majority of ARPKD. However, some cases have been related to a new gene that was recently identified (DZIP1L gene), as well as several ciliary genes that can mimic a ARPKD-like phenotypic spectrum. In addition, a number of molecular pathways involved in the ARPKD pathogenesis and progression were elucidated using cellular and animal models. However, the function of the ARPKD proteins and the molecular mechanism of the disease currently remain incompletely understood. Here, we review the clinics, treatment, genetics, and molecular basis of ARPKD, highlighting the most recent findings in the field.
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Casey, Jim. « Genetic characterization of autosomal recessive polycystic kidney disease ». Nature Clinical Practice Nephrology 2, no 6 (juin 2006) : 295. http://dx.doi.org/10.1038/ncpneph0173.

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Thomas, Joseph, AP Manjunath, Lavanya Rai et Ranjini Kudva. « Autosomal recessive polycystic kidney disease diagnosed in fetus ». Indian Journal of Urology 23, no 3 (2007) : 328. http://dx.doi.org/10.4103/0970-1591.33738.

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Obusez, Emmanuel C., et Unni Udayasankar. « Autosomal Recessive Polycystic Kidney Disease with Caroli Syndrome ». Journal of Urology 193, no 2 (février 2015) : 679–80. http://dx.doi.org/10.1016/j.juro.2014.11.013.

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Harris, Peter C., et Sandro Rossetti. « Molecular genetics of autosomal recessive polycystic kidney disease ». Molecular Genetics and Metabolism 81, no 2 (février 2004) : 75–85. http://dx.doi.org/10.1016/j.ymgme.2003.10.010.

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Hoyer, Peter F. « Clinical manifestations of autosomal recessive polycystic kidney disease ». Current Opinion in Pediatrics 27, no 2 (avril 2015) : 186–92. http://dx.doi.org/10.1097/mop.0000000000000196.

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Lonergan, Gael J., Roy R. Rice et Eric S. Suarez. « Autosomal Recessive Polycystic Kidney Disease : Radiologic-Pathologic Correlation ». RadioGraphics 20, no 3 (mai 2000) : 837–55. http://dx.doi.org/10.1148/radiographics.20.3.g00ma20837.

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Bergmann, Carsten. « Autosomal-Recessive Polycystic Kidney Disease Gets More Complex ». Gastroenterology 144, no 5 (mai 2013) : 1155–56. http://dx.doi.org/10.1053/j.gastro.2013.02.046.

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Mrug, Michal, Juling Zhou, Lisa M. Guay-Woodford et Lesley E. Smythies. « Renal Macrophages in Autosomal Recessive Polycystic Kidney Disease ». Nephrology 18, no 11 (23 octobre 2013) : 746. http://dx.doi.org/10.1111/nep.12153.

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Bergmann, Carsten, Jan Senderek, Fabian Küpper, Frank Schneider, Christian Dornia, Ellen Windelen, Thomas Eggermann et al. « PKHD1mutations in autosomal recessive polycystic kidney disease (ARPKD) ». Human Mutation 23, no 5 (mai 2004) : 453–63. http://dx.doi.org/10.1002/humu.20029.

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NAKANISHI, KOICHI, WILLIAM E. SWEENEY, KATHERINE MACRAE DELL, CALVIN U. COTTON et ELLIS D. AVNER. « Role of CFTR in Autosomal Recessive Polycystic Kidney Disease ». Journal of the American Society of Nephrology 12, no 4 (avril 2001) : 719–25. http://dx.doi.org/10.1681/asn.v124719.

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Abstract. An extensive body of in vitro data implicates epithelial chloride secretion, mediated through cystic fibrosis transmembrane conductance regulator (CFTR) protein, in generating or maintaining fluid filled cysts in MDCK cells and in human autosomal dominant polycystic kidney disease (ADPKD). In contrast, few studies have addressed the pathophysiology of fluid secretion in cyst formation and enlargement in autosomal recessive polycystic kidney disease (ARPKD). Murine models of targeted disruptions or deletions of specific genes have created opportunities to examine the role of individual gene products in normal development and/or disease pathophysiology. The creation of a murine model of CF, which lacks functional CFTR protein, provides the opportunity to determine whether CFTR activity is required for renal cyst formation in vivo. Therefore, this study sought to determine whether renal cyst formation could be prevented by genetic complementation of the BPK murine model of ARPKD with the CFTR knockout mouse. The results of this study reveal that in animals that are homozygous for the cystic gene (bpk), the lack of functional CFTR protein on the apical surface of cystic epithelium does not provide protection against cyst growth and subsequent decline in renal function. Double mutant mice (bpk -/-; cftr -/-) developed massively enlarged kidneys and died, on average, 7 d earlier than cystic, non-CF mice (bpk -/-; cftr +/±). This suggests fundamental differences in the mechanisms of transtubular fluid secretion in animal models of ARPKD compared with ADPKD.
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Kumar, Manish, Yatish Agarwal et BrijBhushan Thukral. « Imaging features in neonatal autosomal recessive polycystic kidney disease ». Astrocyte 2, no 1 (2015) : 36. http://dx.doi.org/10.4103/2349-0977.168250.

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Srinath, Arvind, et Benjamin L. Shneider. « Congenital Hepatic Fibrosis and Autosomal Recessive Polycystic Kidney Disease ». Journal of Pediatric Gastroenterology and Nutrition 54, no 5 (mai 2012) : 580–87. http://dx.doi.org/10.1097/mpg.0b013e31824711b7.

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Zerres, Klaus, Gabi Mucher, Sabine Rudnik-Schöneborn, Philip Smith, Peter Lunt, Adrian Charles et Helen Porter. « Early morphological evidence of autosomal recessive polycystic kidney disease ». Lancet 345, no 8955 (avril 1995) : 987. http://dx.doi.org/10.1016/s0140-6736(95)90734-3.

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Gigarel, N., N. Frydman, P. Burlet, V. Kerbrat, G. Tachdjian, R. Fanchin, C. Antignac, R. Frydman, A. Munnich et J. Steffann. « Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease ». Reproductive BioMedicine Online 16, no 1 (janvier 2008) : 152–58. http://dx.doi.org/10.1016/s1472-6483(10)60569-x.

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Mattoo, T. K., Y. Khatani et B. Ashraf. « Autosomal recessive polycystic kidney disease in 15 Arab children ». Pediatric Nephrology 8, no 1 (février 1994) : 85–87. http://dx.doi.org/10.1007/bf00868276.

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Liu, Yu-Peng, Sho-Jen Cheng, Shin-Lin Shih et Jon-Kway Huang. « Autosomal recessive polycystic kidney disease : appearance on fetal MRI ». Pediatric Radiology 36, no 2 (8 novembre 2005) : 169. http://dx.doi.org/10.1007/s00247-005-0004-2.

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Ling, Galina, Daniel Landau, Carsten Bergmann, Esther Maor et Baruch Yerushalmi. « Neonatal ascites in autosomal recessive polycystic kidney disease (ARPKD) ». Clinical Nephrology 83 (2015), no 05 (1 mai 2015) : 297–300. http://dx.doi.org/10.5414/cn108345.

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Shenoy, Prithi, SyedAhmed Zaki, Preeti Shanbag et Swapnil Bhongade. « Caroli′s syndrome with autosomal recessive polycystic kidney disease ». Saudi Journal of Kidney Diseases and Transplantation 25, no 4 (2014) : 840. http://dx.doi.org/10.4103/1319-2442.135176.

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Wen, Jessica. « Congenital Hepatic Fibrosis in Autosomal Recessive Polycystic Kidney Disease ». Clinical and Translational Science 4, no 6 (décembre 2011) : 460–65. http://dx.doi.org/10.1111/j.1752-8062.2011.00306.x.

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