Genomes and Genes
Summary: A condition characterized by precipitation of calcium phosphate in the tubules of the kidney, with resultant renal insufficiency. (Dorland, 27th ed)
Publications211 found, 100 shown here
- Neonatal nephrocalcinosis in association with glucose-galactose malabsorptionAmitava Pahari
Nephro Urology Unit, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK
Pediatr Nephrol 18:700-2. 2003We report a case of severe nephrocalcinosis related to hypercalcaemia in a newborn with glucose-galactose malabsorption...
- Development of nephrocalcinosis in very low birth weight infantsGuido Hein
Pediatric Clinic, Beurhausstrasse 40, 44137 Dortmund, Germany
Pediatr Nephrol 19:616-20. 2004..However, Ca and P supplementation can be associated with some risks, for example development of nephrocalcinosis. We investigated pathophysiological risk factors in premature very low birth weight (VLBW) infants associated ..
- Nephrocalcinosis: molecular insights into calcium precipitation within the kidneyJohn A Sayer
School of Cell and Molecular Biosciences, Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne NE2 4HH, UK
Clin Sci (Lond) 106:549-61. 2004b>Nephrocalcinosis may be defined as a generalized increase in the calcium content of the kidneys. This renal calcification may occur at a molecular, microscopic or macroscopic level leading to progressive amounts of renal damage...
- Deletion of claudin-10 (Cldn10) in the thick ascending limb impairs paracellular sodium permeability and leads to hypermagnesemia and nephrocalcinosisTilman Breiderhoff
Max Delbruck Center for Molecular Medicine, 13125 Berlin, Germany
Proc Natl Acad Sci U S A 109:14241-6. 2012..that claudin-10 determines paracellular sodium permeability, and that its loss leads to hypermagnesemia and nephrocalcinosis. In isolated perfused TAL tubules of claudin-10-deficient mice, paracellular permeability of sodium is ..
- Amelogenesis imperfecta and nephrocalcinosis syndrome: a case report and review of the literatureHercilio Martelli-Júnior
Stomatology Clinic, Dental School, State University of Montes Claros, Brazil
Nephron Physiol 118:p62-5. 2011..electron microscopy of the teeth revealed hypoplastic enamel, and a renal ultrasound detected bilateral nephrocalcinosis, leading to a diagnosis of AI and nephrocalcinosis syndrome...
- CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosisMartin Konrad
Department of Pediatrics, University of Munster, Waldeyerstrasse 22, 48149 Munster, Germany
J Am Soc Nephrol 19:171-81. 2008
- Amelogenesis imperfecta and nephrocalcinosis: a new case of this rare syndromeIsabelle Normand de la Tranchade
Université d Odontologie de Bordeaux II, Service d Odontologie Pédiatrique, 16 cours de la Marne, 33000 Bordeaux, France
J Clin Pediatr Dent 27:171-5. 2003..Renal symptoms include medullary nephrocalcinosis without any apparent cause, and evolution to a renal failure...
- Familial hypomagnesaemia--hypercalciuria leading to end-stage renal failureJ C Nicholson
Department of Nephrology, Royal Children s Hospital, Parkville, Victoria, Australia
Pediatr Nephrol 9:74-6. 1995..two sisters from a consanguineous marriage with the syndrome of renal magnesium wasting, hypercalciuria and nephrocalcinosis are presented...
- Two heterozygous mutations of CLDN16 in a Japanese patient with FHHNCToshihiro Tajima
Department of Pediatrics, Hokkaido University School of Medicine, N15, W7, Sapporo 060 0835, Japan
Pediatr Nephrol 18:1280-2. 2003Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC, MIN 248250) is a rare autosomal recessive tubular disorder that eventually progresses to renal failure...
- Case report of a rare syndrome associating amelogenesis imperfecta and nephrocalcinosis in a consanguineous familyL M Paula
Dental Anomalies Clinic, University Hospital of Brasilia, Department of Dentistry, Faculty of Health Science, University of Brasilia, SMDB Conjunto 29, Lote 3, Lago Sul, Brasilia 71680 290, DF, Brazil
Arch Oral Biol 50:237-42. 2005A rare syndrome associating amelogenesis imperfecta (AI) with nephrocalcinosis has been reported...
- Adverse renal and metabolic effects associated with oral sodium phosphate bowel preparationEliot C Heher
Department of Medicine, Division of Nephrology, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
Clin J Am Soc Nephrol 3:1494-503. 2008..disturbances as well as acute kidney injury (AKI) in a syndrome termed phosphate nephropathy (a form of nephrocalcinosis)...
- Diagnostic examination of the child with urolithiasis or nephrocalcinosisBernd Hoppe
Department of Pediatrics, Division of Pediatric Nephrology, University Children s Hospital Cologne, Kerpenerstr 62, 50924, Cologne, Germany
Pediatr Nephrol 25:403-13. 2010Urolithiasis and nephrocalcinosis are more frequent in children then currently anticipated, but still remain under- or misdiagnosed in a significant proportion of patients, since symptoms and signs may be subtle or misleading...
- Hyperoxaluria is reduced and nephrocalcinosis prevented with an oxalate-degrading enzyme in mice with hyperoxaluriaDanica Grujic
Altus Pharmaceuticals, 625 Putnam Avenue, Cambridge, MA 02139, USA
Am J Nephrol 29:86-93. 2009Hyperoxaluria is a major risk factor for recurrent urolithiasis and nephrocalcinosis. We tested an oral therapy with a crystalline, cross-linked formulation of oxalate-decarboxylase (OxDc-CLEC) on the reduction of urinary oxalate and ..
- Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosisS Weber
Department of Pediatrics, Philipps University, Marburg, Germany
J Am Soc Nephrol 12:1872-81. 2001Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive tubular disorder that is frequently associated with progressive renal failure...
- The ClC-5 chloride channel knock-out mouse - an animal model for Dent's diseaseWilly Günther
Zentrum fur Molekulare Neurobiologie Hamburg, ZMNH, Universitat Hamburg, Falkenried 94, 20246 Hamburg, Germany
Pflugers Arch 445:456-62. 2003..by proteinuria, hyperphosphaturia and hypercalciuria, which eventually lead to kidney stones and nephrocalcinosis. As it was unclear how mutations in a chloride channel might cause these symptoms, we and others have ..
- Claudin-16 and claudin-19 function in the thick ascending limbJianghui Hou
Washington University School of Medicine, Division of Renal Diseases, St Louis, Missouri, USA
Curr Opin Nephrol Hypertens 19:483-8. 2010..This review describes recent findings of the physiological function of claudin-16 and claudin-19 underlying normal transport function for magnesium reabsorption in the TAL...
- Paracellin-1 is critical for magnesium and calcium reabsorption in the human thick ascending limb of HenleA Blanchard
Département de Physiologie et Radio Isotopes, Universite Pierre et Marie Curie, INSERM U356, Institut Fédératif de Recherche 58, Laboratoire de Genetique Moleculaire, Hôpital Universitaire Européen Georges Pompidou, Paris, France
Kidney Int 59:2206-15. 2001..However, no functional experiments have demonstrated that TAL magnesium and calcium reabsorption were actually impaired in patients with HHS...
- Genetic modulation of nephrocalcinosis in mouse models of ectopic mineralization: the Abcc6(tm1Jfk) and Enpp1(asj) mutant miceQiaoli Li
Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA
Lab Invest 94:623-32. 2014Ectopic mineralization of renal tissues in nephrocalcinosis is a complex, multifactorial process...
- Unusual clinical presentation and possible rescue of a novel claudin-16 mutationDominik Muller
Department of Pediatric Nephrology, Charite Children s Hospital and Center for Cardiovascular Research, 12200 Berlin, Germany
J Clin Endocrinol Metab 91:3076-9. 2006Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is caused by a dysfunction of Claudin-16 (CLDN16) and characterized by renal wasting of Mg(2+) and Ca(2+).
- Two cases of familial hypomagnesemia with hypercalciuria and nephrocalcinosis: dental findingsN Cetrullo
Department of Dental Sciences, Special Care Unit, Alma Mater Studiorum University of Bologna, Italy
Eur J Paediatr Dent 7:146-50. 2006..FHHNC is a rare syndrome, genetically investigated since 1999, transmitted as an autosomal recessive disease. It is related to a mutation of PCN-1 gene which encodes for a tight junction protein named paracellin...
- Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family studyVelibor Tasic
University Children s Hospital, 17 Vodnjanska, 1000 Skopje, Macedonia
Pediatr Nephrol 20:1003-6. 2005..The ultrasound examination of his kidneys demonstrated bilateral diffuse medullary nephrocalcinosis. His serum and urine biochemistry revealed hypomagnesemia (0...
- Regulatory T cells improve nephrocalcinosis but not dystrophic cardiac calcinosis in DBA/2 miceAlexander H Kirsch
Clinical Division of Nephrology, Department of Internal Medicine, Medical University of Graz, Graz, Austria
Am J Pathol 183:382-90. 2013b>Nephrocalcinosis is characterized by aberrant deposition of calcium in the kidneys and is seen in phosphate nephropathy, primary hyperparathyroidism, and distal renal tubular acidosis...
- SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signalingKishan Kumar Chudasama
K G Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, N 5020 Bergen, Norway
Am J Hum Genet 93:150-7. 2013..Normal PI3K activity is critical for adipose differentiation and insulin signaling; the mutated PIK3R1 therefore provides a unique link among lipodystrophy, growth, and insulin signaling. ..
- Mutations in PIK3R1 cause SHORT syndromeDavid A Dyment
Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada
Am J Hum Genet 93:158-66. 2013..Our findings show that PIK3R1 mutations are the major cause of SHORT syndrome and suggest that the molecular mechanism of disease might involve downregulation of the PI3K-AKT-mTOR pathway...
- The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosisR V Thakker
Medical Research Council Molecular Endocrinology Group, Medical Research Council Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, London, UK
Curr Opin Nephrol Hypertens 7:385-8. 1998..These molecular genetic studies have increased our understanding of the renal tubular mechanisms that regulate mineral homeostasis...
- The origin of nephrocalcinosis, Randall's plaque and renal stones: a cell biology viewpointGiovanni Gambaro
Division of Nephrology, Renal Program, Catholic University Hospital, Rome, Italy
Arch Ital Urol Androl 81:166-70. 2009Medullary nephrocalcinosis is a rare condition typically observed in metabolic conditions prone to renal calcium stones. Randall's plaques are very frequently observed in the common idiopathic calcium-oxalate nephrolithiasis...
- Medullary nephrocalcinosis, distal renal tubular acidosis and polycythaemia in a patient with nephrotic syndromeSuneth Karunarathne
National Hospital of Sri Lanka, Regent Street, Colombo 8, Sri Lanka
BMC Nephrol 13:66. 2012Medullary nephrocalcinosis and distal renal tubular acidosis are closely associated and each can lead to the other...
- Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosisFelix Claverie-Martin
Unidad de Investigacion, Hospital Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain
PLoS ONE 8:e53151. 2013Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal recessive tubular disorder characterized by excessive renal magnesium and calcium excretion and chronic kidney failure...
- The impact of sodium chloride and volume depletion in the chronic kidney disease of congenital chloride diarrheaSatu Wedenoja
Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland
Kidney Int 74:1085-93. 2008..The main feature of the renal injury was nephrocalcinosis, without hypercalciuria or nephrolithiasis with small sized kidneys and commensurately reduced glomerular ..
- Lanthanum carbonate inhibits intestinal oxalate absorption and prevents nephrocalcinosis after oxalate loading in ratsStef Robijn
Laboratory of Pathophysiology, Faculty of Pharmaceutical, Biomedical and Veterinary Sciences, University of Antwerp, Antwerp, Belgium
J Urol 189:1960-6. 2013..urinary oxalate excretion (secondary hyperoxaluria) and calcium oxalate crystal formation, contributing to nephrocalcinosis/lithiasis...
- Retention of fetuin-A in renal tubular lumen protects the kidney from nephrocalcinosis in ratsIsao Matsui
Department of Geriatric Medicine and Nephrology, Osaka University Graduate School of Medicine, Osaka, Japan
Am J Physiol Renal Physiol 304:F751-60. 2013..However, the mechanism how fetuin-A protects kidneys from nephrocalcinosis remains uncertain...
- Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutationsGraciana Jaureguiberry
Centre for Nephrology, University College London, London, UK
Nephron Physiol 122:1-6. 2012..Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood.
- Hydrochlorothiazide in CLDN16 mutationBettina Zimmermann
Klinik fur Kinder und Jugendliche, Friedrich Alexander University of Erlangen Nuremberg, Loschgestr 15, D 91054 Erlangen, Germany
Nephrol Dial Transplant 21:2127-32. 2006Hydrochlorothiazide (HCT) is applied in the therapy of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) caused by claudin-16 (CLDN16) mutation...
- PIK3R1 mutations cause syndromic insulin resistance with lipoatrophyChristel Thauvin-Robinet
Equipe d Accueil 4271, Génétique des Anomalies du Developpement, Universite de Bourgogne, F 21079 Dijon, France
Am J Hum Genet 93:141-9. 2013....
- High incidence of nephrocalcinosis in extremely preterm infants treated with dexamethasoneDavid J Cranefield
Department of Radiology, National Women s Hospital, Private Bag 92189, Auckland, New Zealand
Pediatr Radiol 34:138-42. 2004The use of postnatal corticosteroids to treat or prevent chronic lung disease is common in very preterm infants. Medullary nephrocalcinosis has been noted as a possible side effect.
- Focal segmental glomerulosclerosis, proteinuria and nephrocalcinosis associated with renal tubular acidosisRasheed A Balogun
Department of Medicine, Nephrology Division, University of Connecticut Health Center, 263 Farmington Avenue, Farmington, CT 06030, USA
Nephrol Dial Transplant 17:308-10. 2002
- Nephrocalcinosis in animal models with and without stonesSaeed R Khan
Department of Pathology, Center for the Study of Lithiasis, College of Medicine, University of Florida, Gainesville, FL, USA
Urol Res 38:429-38. 2010b>Nephrocalcinosis is the deposition of calcium salts in renal parenchyma and can be intratubular or interstitial. Animal model studies indicate that intratubular nephrocalcinosis is a result of increased urinary supersaturation...
- Is amelogenesis imperfecta an indication for renal examination?Lindsay Hunter
Dental Health and Biological Sciences, Cardiff University, Wales College of Medicine, Cardiff, UK
Int J Paediatr Dent 17:62-5. 2007..The term 'amelogenesis imperfecta' (AI) describes a diverse group of hereditary conditions primarily affecting the quality and/or quantity of dental enamel...
- Is nephrocalcinosis in preterm neonates harmful for long-term blood pressure and renal function?Joana E Kist-van Holthe
Department of Pediatrics, Leiden University Medical Center, PO Box 9600, 2300RC Leiden, The Netherlands
Pediatrics 119:468-75. 2007The aim of our study was to examine long-term effects of nephrocalcinosis in prematurely born children.
- Effect of the calcimimetic NPS R-467 on furosemide-induced nephrocalcinosis in the young ratAnirut Pattaragarn
Section of Pediatric Nephrology, Children s Mercy Hospital, University of Missouri Kansas City, Kansas City, Missouri 64108, USA
Kidney Int 65:1684-9. 2004Furosemide induces nephrocalcinosis in both humans and animals...
- Function and regulation of claudins in the thick ascending limb of HenleDorothee Gunzel
Department of Clinical Physiology, Charite, Campus Benjamin Franklin, Berlin, Germany
Pflugers Arch 458:77-88. 2009..Mg(2+) wasting in patients with the rare inherited disorder of familial hypercalciuric hypomagnesemia with nephrocalcinosis (FHHNC)...
- Preconditioning of the distal tubular epithelium of the human kidney precedes nephrocalcinosisAnja Verhulst
Department of Nephrology Hypertension, University of Antwerp, Belgium
Kidney Int 68:1643-7. 2005Preterm neonates and renal transplant patients frequently develop nephrocalcinosis. Experimental studies revealed that crystal retention in the distal nephron, a process that may lead to nephrocalcinosis, is limited to proliferating/..
- Report of a family with two different hereditary diseases leading to early nephrocalcinosisRosa Vargas-Poussou
Département de Pédiatrie Médicale et Faculté de Médecine et de Pharmacie Rouen, Centre Hospitalier Universitaire de Rouen, Rouen, France
Pediatr Nephrol 23:149-53. 2008The etiologies of early onset nephrocalcinosis in consanguineous families include five major inherited recessive disorders: primary hyperoxaluria (PH), familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), distal renal ..
- The relationship of amelogenesis imperfecta and nephrocalcinosis syndromeZuhal Kirzioglu
Suleyman Demirel University, Faculty of Dentistry, Department of Paediatric Dentistry, Isparta, Turkiye
Med Oral Patol Oral Cir Bucal 14:e579-82. 2009To analyze the prevalence and associated oral findings of nephrocalcinosis in a group of patients affected with amelogenesis imperfecta (AI). The relationship between types of AI and nephrocalcinosis were also evaluated.
- Etiology of nephrocalcinosis in preterm neonates: association of nutritional intake and urinary parametersE A Schell-Feith
Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
Kidney Int 58:2102-10. 2000b>Nephrocalcinosis (NC) in preterm neonates has been described frequently, and small-scale studies suggest an unfavorable effect on renal function. The etiologic factors have not yet been fully clarified...
- Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutationsAstrid Godron
Département de génétique, Hopital Europeen Georges Pompidou, Paris, France
Clin J Am Soc Nephrol 7:801-9. 2012Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive renal tubular disease. It is caused by mutations in CLDN16 and CLDN19, encoding claudin-16 and -19, respectively...
- Nephrocalcinosis in preterm infants: a single center experienceBernd Hoppe
Pediatric Nephrology, University Children s Hospital, Josef Stelzmann Strasse 9, 50924 Cologne, Germany
Pediatr Nephrol 17:264-8. 2002The risk of nephrocalcinosis in preterm infants is considerable, but conflicting numbers are given for the actual incidence (10-65%). Furosemide induced hypercalciuria is said to be the main risk factor...
- [Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Association with ocular abnormalities]C Loris Pablo
Unidad de Nefrología Pediátrica, Hospital Infantil Universitario Miguel Servet, Zaragoza, Spain
An Pediatr (Barc) 61:502-8. 2004Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an unusual disease that usually leads to end-stage renal failure...
- The effect of sodium thiosulfate administration on nephrocalcinosis in a rat modelChad A Lagrange
Division of Urology, Department of Surgery, University of Kentucky Medical Center, Lexington, Kentucky, USA
J Endourol 23:529-33. 2009..We proposed a rat model to evaluate whether STS has any possible beneficial effect on calcium nephrolithiasis or nephrocalcinosis.
- Nephrocalcinosis and renal cysts associated with apparent mineralocorticoid excess syndromeA Moudgil
Ahmanson Department of Pediatrics, Cedars Sinai Medical Center and UCLA School of Medicine, Los Angeles, CA, USA
Pediatr Nephrol 15:60-2. 2000..hypokalemia, alkalosis, reduced plasma renin activity (PRA), low aldosterone levels, and occasionally nephrocalcinosis. Here we describe a 13-year-old boy who presented with severe hypertension, hypokalemia, low PRA and ..
- Nephrocalcinosis in very low birth weight infants: a single center experienceKrit Ketkeaw
Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand
J Med Assoc Thai 87:S72-7. 2004To determine the incidence and risk factors of nephrocalcinosis in very low birth weight infants.
- Mutation in the tight-junction gene claudin 19 (CLDN19) and familial hypomagnesemia, hypercalciuria, nephrocalcinosis (FHHNC) and severe ocular diseaseMuhammad Naeem
Department of Biotechnology, Faculty of Biological Sciences, Quaid i Azam University, Islamabad, Pakistan
Am J Nephrol 34:241-8. 2011Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare renal tubular disorder complicated by progressive renal failure during childhood or adolescence...
- Renal, ocular, and neuromuscular involvements in patients with CLDN19 mutationsStanislas Faguer
Service de Néphrologie et Immunologie Clinique, Centre de Référence des Maladies Rénales Rares, CHU Toulouse, Toulouse Cedex 9, France
Clin J Am Soc Nephrol 6:355-60. 2011The objective of this study was to describe the renal and extrarenal findings in patients with recessively inherited familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) associated with CLDN19 mutations.
- Claudin-16 and claudin-19 interact and form a cation-selective tight junction complexJianghui Hou
Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA
J Clin Invest 118:619-28. 2008..Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an inherited disorder caused by mutations in the genes encoding the TJ proteins claudin-16 (CLDN16)..
- Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16P Jaya Kausalya
Epithelial Cell Biology Laboratory, Institute of Molecular and Cell Biology, Singapore
J Clin Invest 116:878-91. 2006..in the CLDN16 gene have been identified in patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), a disease of excessive renal Mg2+ and Ca2+ excretion...
- Consumption of krill protein concentrate prevents early renal injury and nephrocalcinosis in female Sprague-Dawley ratsJoseph C Gigliotti
Animal and Nutritional Sciences, West Virginia University, P O Box 6108, Morgantown, WV 26506, USA
Urol Res 39:59-67. 2011..b>Nephrocalcinosis, a common renal abnormality found in rats, has been implicated in subsequent renal failure...
- Acute phosphate nephropathy and renal failureSimon Desmeules
N Engl J Med 349:1006-7. 2003
- Urinary NAG in children with urolithiasis, nephrocalcinosis, or risk of urolithiasisPrzemyslaw Sikora
Division of Pediatric Nephrology, University Children s Hospital, Josef Stelzmann Strasse 9, 50924 Cologne, Germany
Pediatr Nephrol 18:996-9. 2003A crucial role for cell-crystal interactions in the development of urolithiasis (UL) and nephrocalcinosis (NC) was previously observed in experiments with different cell lines mimicking renal epithelial cells...
- Absorptive hyperoxaluria leads to an increased risk for urolithiasis or nephrocalcinosis in cystic fibrosisBernd Hoppe
University Children s Hospital Cologne, Germany, USA
Am J Kidney Dis 46:440-5. 2005Hyperoxaluria has been incriminated to account for the increased incidence of urolithiasis or nephrocalcinosis in patients with cystic fibrosis (CF)...
- Hypercalciuria and nephrocalcinosis in cystic fibrosis patientsUgur Ozcelik
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
Turk J Pediatr 46:22-7. 2004The objective of this study was to determine the frequency of nephrocalcinosis and hypercalciuria in cystic fibrosis (CF) patients, and to search possible causes of this phenomenon. Forty-three CF children (24 boys, 19 girls; mean age 64...
- Nephrocalcinosis and urolithiasis in carbonic anhydrase II deficiency syndromeE A Ismail
Department of Paediatrics, Farwaniya Hospital, Kuwait
Eur J Pediatr 156:957-62. 1997..At the age of 14 months, ultrasound studies in the girl showed medullary nephrocalcinosis which has not been previously described in association with CA II, while cerebral CT scan revealed dilated ..
- Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblingsF Manz
Eur J Pediatr 128:67-79. 1978Polyuria, hyposthenuria, hypomagnesemia, hypercalciuria, advanced nephrocalcinosis, low citrate excretion and low glomerular filtration rates were observed in two female siblings who were followed over 10 years...
- Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): compound heterozygous mutation in the claudin 16 (CLDN16) geneGeeta Hampson
Department of Chemical Pathology, St Thomas Hospital, London, UK
BMC Nephrol 9:12. 2008Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive disorder of renal calcium and magnesium wasting frequently complicated by progressive chronic renal failure in childhood or adolescence.
- Cinacalcet-associated graft dysfunction and nephrocalcinosis in a kidney transplant recipientLuon W Peng
Orthopedic Research Lab, Department of Medicine, University of Arizona, Tucson 85724, USA
Am J Med 120:e7-9. 2007
- A novel compound heterozygous ROMK mutation presenting as late onset Bartter syndrome associated with nephrocalcinosis and elevated 1,25(OH)(2) vitamin D levelsAmita Sharma
Pediatric Nephrology Unit, Massachusetts General Hospital for Children and Harvard Medical School, Boston, MA 02114, USA
Clin Exp Nephrol 15:572-6. 2011..elevated 1,25(OH)(2) vitamin D levels, possibly due to increase prostaglandin E(2) levels, and medullary nephrocalcinosis. Treatment with COX-2 inhibitors resolved her hypercalciuria and improved her height and weight; renal ..
- Renal cysts and nephrocalcinosis in a patient with Bartter syndrome type IIIToru Watanabe
Department of Pediatrics, Niigata City General Hospital, 2 6 1 Shichikuyama, 950 8739, Niigata, Japan
Pediatr Nephrol 20:676-8. 2005..We describe a patient with classic Bartter syndrome who exhibited renal cysts and nephrocalcinosis. Direct sequencing analysis of the chloride channel CLC-Kb gene identified a heterozygous nonsense mutation (..
- Familial hypomagnesemia with hypercalciuria and nephrocalcinosisJameela A Kari
Department of Pediatrics, King Abdulaziz University Hospital, Jeddah, Saudi Arabia
Pediatr Nephrol 18:506-10. 2003Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive tubular disorder that is frequently associated with progressive renal failure...
- Hypocitraturia as a risk factor for nephrocalcinosis after kidney transplantationLudwig Stapenhorst
Division of Pediatric Nephrology, Department of Pediatrics, University Children s Hospital, 50924, Cologne, Germany
Pediatr Nephrol 20:652-6. 2005..Both findings can increase the risk for urolithiasis or nephrocalcinosis.
- Urinary oxalate excretion in urolithiasis and nephrocalcinosisT J Neuhaus
Nephrology Unit, University Children s Hospital, Steinwiesstrasse 75, CH 8032 Zurich, Switzerland
Arch Dis Child 82:322-6. 2000To investigate urinary oxalate excretion in children with urolithiasis and/or nephrocalcinosis and to classify hyperoxaluria (HyOx).
- Renal failure due to acute nephrocalcinosis following oral sodium phosphate bowel cleansingGlen S Markowitz
Department of Pathology, Columbia College of Physicians and Surgeons, New York, NY 10032, USA
Hum Pathol 35:675-84. 2004b>Nephrocalcinosis is a chronic tubulointerstitial nephropathy characterized by tubular calcium phosphate deposition and slowly progressive renal insufficiency...
- Oral alendronate therapy for severe vitamin D intoxication of the infant with nephrocalcinosisMehmet Emre Atabek
Department of Pediatrics, Section of Pediatric Endocrinology, School of Medicine, Selcuk University, Konya, Turkey
J Pediatr Endocrinol Metab 19:169-72. 2006..alendronate for the treatment of hypercalcemia due to vitamin D intoxication in a 7 month-old infant with nephrocalcinosis. The serum calcium levels were normalized without complications...
- Familial hypomagnesemia with hypercalciuria and nephrocalcinosis associated with CLDN16 mutationsJu Hyung Kang
Department of Pediatrics, Seoul National University Children s Hospital, 28 Yongon Dong, Chongro Gu, 110 744 Seoul, Korea
Pediatr Nephrol 20:1490-3. 2005Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), an autosomal recessive renal tubular disorder, is characterized by the impaired tubular reabsorption of magnesium and calcium in the thick ascending limb of the ..
- Renal failure and nephrocalcinosis associated with oral sodium phosphate bowel cleansing: clinical patterns and renal biopsy findingsGulfiliz Gonlusen
Department of Pathology, The Methodist Hospital, Baylor College of Medicine, Houston, Texas, USA
Arch Pathol Lab Med 130:101-6. 2006..The renal biopsies in each of these patients showed nephrocalcinosis as the possible cause of ARF...
- Bilateral uraemic optic neuritis complicating acute nephrocalcinosisPaul Manley
Department of Nephrology, Auckland City Hospital, Private Bag 92024, Auckland, New Zealand
Nephrol Dial Transplant 21:2957-8. 2006
- Nephrolithiasis and nephrocalcinosis in rats with small bowel resectionR Corey O'Connor
Department of Urology, University of Chicago, Chicago, IL, USA
Urol Res 33:105-15. 2005..This new rat model of nephrolithiasis and nephrocalcinosis resembles the pattern of urinary abnormalities and tissue calcification that may be seen in humans with small ..
- A novel PCLN-1 gene mutation in familial hypomagnesemia with hypercalciuria and atypical phenotypeSami A Sanjad
Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon
Pediatr Nephrol 22:503-8. 2007Familial hypomagnesemic hypercalciuria and nephrocalcinosis (FHHNC [MIM 248250]) is a rare renal tubular disorder characterized by impaired reabsorption of magnesium and calcium in the thick ascending limb of Henle's loop (tALH), causing ..
- A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosisLara Cheidde
Nephrology Division, Universidade Federal de Sao Paulo UNIFESP, Sao Paulo, Brazil
Pediatrics 112:1361-7. 2003..The purpose of the present study was to screen for mutations in the AE1 gene in 2 brothers (10 and 15 years of age) with familial distal renal tubular acidosis (dRTA), nephrocalcinosis, and failure to thrive.
- Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduriaGuido F Laube
Nephrourology Unit, Institute of Child Health and Great Ormond Street Hospital, London, UK
Pediatr Nephrol 18:712-3. 2003..with 3-methylglutaconic aciduria in whom renal ultrasonography showed echogenic medullae consistent with nephrocalcinosis. One patient also developed medullary cysts...
- Hypocitraturia is one of the major risk factors for nephrocalcinosis in very low birth weight (VLBW) infantsPrzemyslaw Sikora
Division of Pediatric Nephrology, University Children s Hospital Cologne, Cologne, Germany
Kidney Int 63:2194-9. 2003Very low birth weight (VLBW) infants are at risk to develop nephrocalcinosis (NC). NC may result from spontaneous or therapy-induced imbalance between promoters and inhibitors of crystallization in the urine...
- Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's diseaseO Devuyst
Division of Nephrology and Cell Unit, Christian de Duve Institute of Cellular Pathology, University of LouvainnMedical School, B 1200 Brussels, Belgium
Hum Mol Genet 8:247-57. 1999..These results help to elucidate further the patho-physiological basis of the renal tubular defects of Dent's disease...
- Effects of simultaneous increases in dietary phosphorus and magnesium concentrations on nephrocalcinosis and kidney function in female ratsHiroshi Matsuzaki
Department of Nutrition, Junior College of Tokyo University of Agriculture, 1 1 1 Sakuragaoka, Setagaya Ku, Tokyo 156 8502, Japan
Magnes Res 17:14-9. 2004..in dietary phosphorus (P) and magnesium (Mg) concentrations while maintaining a constant P:Mg ratio on nephrocalcinosis and kidney function in female rats was investigated. Female Wistar rats were fed a control diet (3.12 g P, 0...
- Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcomeChristiaan S van Woerden
Laboratory for Genetic Metabolic Diseases, Department of Clinical Chemistry, Emma Children s Hospital AMC, 1100 DD Amsterdam, The Netherlands
Nephrol Dial Transplant 18:273-9. 2003..To date the relationship between biochemical parameters and outcome is unclear. We therefore undertook a national cohort study on biochemical and clinical parameters and outcome in PH1...
- ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cellsW Gunther
Zentrum für Molekulare Neurobiologie Hamburg ZMNH, Universitat Hamburg, Martinistrasse 85, D 20246 Hamburg, Germany
Proc Natl Acad Sci U S A 95:8075-80. 1998....
- Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 geneS Weber
Department of Pediatrics, Philipps University, Marburg, Germany
Eur J Hum Genet 8:414-22. 2000Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC, MIM 248250) is a complex renal tubular disorder characterised by hypomagnesaemia, hypercalciuria, advanced nephrocalcinosis, hyposthenuria and progressive renal ..
- Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5)S E Lloyd
MRC Clinical Sciences Centre, Royal Postgraduate Medical School, Hammersmith Hospital, London, United Kingdom
J Clin Invest 99:967-74. 1997..proximal renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria, and nephrocalcinosis. The disorder, which has a familial predisposition and occurs predominantly in males, has similarities to ..
- The concentrations and ratio of dietary calcium and phosphorus influence development of nephrocalcinosis in female ratsKevin A Cockell
Nutrition Research Division, Food Directorate, Health Products and Food Branch, Health Canada, 2203C Banting Research Centre, Ottawa, ON, Canada K1A 0L2
J Nutr 132:252-6. 2002b>Nephrocalcinosis (NC) in female rats can complicate the interpretation of nutritional or toxicological studies involving the kidney...
- Greater effect of dietary potassium tripolyphosphate than of potassium dihydrogenphosphate on the nephrocalcinosis and proximal tubular function in female rats from the intake of a high-phosphorus dietH Matsuzaki
Department of Nutrition, Junior College of Tokyo University of Agriculture, Japan
Biosci Biotechnol Biochem 65:928-34. 2001..and potassium tripolyphosphate (K5P3O10) as dietary phosphorus sources could differentially effect the nephrocalcinosis and proximal tubular function in female rats...
- Ibandronate for the treatment of hypercalcemia or nephrocalcinosis in patients with multiple myeloma and acute renal failure: Case reportsDirk Henrich
Medizinische Klinik A, Klinikum Ludwigshafen, Ludwigshafen, Germany
Acta Haematol 116:165-72. 2006..This causes hypercalcemia. When left untreated, hypercalcemia leads to nephrocalcinosis, impairment of kidney function, and eventually renal failure...
- Carbonic anhydrase type II deficiencyRoel J Bolt
Department of Pediatrics, VU University Medical Center, Amsterdam, The Netherlands
Am J Kidney Dis 46:A50, e71-3. 2005
- Decreased urinary citrate excretion in type 1a glycogen storage diseaseD A Weinstein
Division of Endocrinology, Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
J Pediatr 138:378-82. 2001..The combination of low citrate excretion and hypercalciuria appears to be important in the pathogenesis of nephrocalcinosis and nephrolithiasis...
- Severe renal failure and nephrocalcinosis in anorexia nervosaHuy A Tran
Med J Aust 184:46; author reply 46. 2006
- Pre- and intra-operative findings in primary hyperparathyroidismF Debruyne
University Hospitals, Leuven
Acta Otorhinolaryngol Belg 55:129-38. 2001..Hyperplasia patients were, on the average, younger and double adenoma patients older. The female/male ratio was 1/1 for hyperplasia and 15/1 for double adenoma...
- [Hypercalcemia in sarcoidosis--case report, prevalence, pathophysiology and therapeutic options]D Ackermann
Klinik für Nephrologie und Hypertonie, Universitatsspital Bern
Ther Umsch 64:281-6. 2007..Alternatively, treatment with chloroquine or ketoconazole can be established. If isolated hypercalciuria without hypercalcemia is present with evidence for recurrent nephrolithiasis, patients can be treated with a thiazide diuretic...
- Familial hypomagnesemia-hypercalciuria in 2 siblingsE Kuwertz-Bröking
Department of Pediatrics, University Children s Hospital, University of Munster, Germany
Clin Nephrol 56:155-61. 2001Familial hypomagnesemia-hypercalciuria with nephrocalcinosis and renal insufficiency in childhood is a rarely described disease...
- [Pathophysiology and diagnosis of nephrocalcinosis]D Fuster
Klinik und Poliklinik für Nephrologie und Hypertonie, Universitätspital, Bern
Ther Umsch 64:287-90. 2007b>Nephrocalcinosis is the result of a myriad of hereditary or acquired diseases in the calcium, phosphate or oxalate metabolism that lead to deposition of calcium containing precipitates within the kidney...
- [Primary hyperoxaluria in children in central Tunisia]Jalel Chemli
Service de Pediatrie, CHU Sahloul Sousse
Tunis Med 85:513-8. 2007..The goal of this work is to analyze clinical and therapeutics particularities of primary hyperoxaluria in children in Tunisian centre...
- X-linked recessive nephrolithiasis: presentation and diagnosis in childrenS J Schurman
Department of Pediatrics, University of South Florida College of Medicine, St Petersburg, Florida, USA
J Pediatr 132:859-62. 1998..recessive nephrolithiasis is a recently described disease characterized by recurrent nephrolithiasis, nephrocalcinosis, and progressive renal failure, associated with mutations in a renal chloride channel gene, chloride channel ..
- Renal tubular impairment in children with idiopathic hypercalciuriaSylva Skalova
Department of Pediatrics, Faculty of Medicine, Charles University, Prague, Czech Republic
Acta Medica (Hradec Kralove) 49:109-11. 2006..Ultrasound examination revealed urolithiasis (n=4) and nephrocalcinosis (n=1)...
- Nephrocalcinosis in siblings--familial hypomagnesemia, hypercalciuria with nephrocalcinosis (FHHNC syndrome)M Ram Prabahar
Department of Nephrology, Madras Medical College and Government General Hospital, Chennai
J Assoc Physicians India 54:497-500. 2006Familial Hypomagnesemia, Hypercalciuria with Nephrocalcinosis is a rare autosomal recessive inherited disease associated with renal failure...
- Onset of nephrocalcinosis depends on dietary phosphorus concentration in male rats fed a magnesium-deficient dietH Matsuzaki
Department of Nutrition, Junior College of Tokyo University of Agriculture, 1 1 1 Sakuragaoka, Setagaya Ku, Tokyo 156 8502, Japan
Magnes Res 19:255-60. 2006Although a magnesium (Mg)-deficient diet is generally known to induce nephrocalcinosis, our previous study observed that despite the administration of a Mg-deficient diet, the kidney calcium (Ca) and phosphorus (P) concentrations were not ..
- Distal renal tubular acidosis in mice lacking the AE1 (band3) Cl-/HCO3- exchanger (slc4a1)Paul A Stehberger
Institute of Physiology and Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland
J Am Soc Nephrol 18:1408-18. 2007..Homozygous mice had nephrocalcinosis associated with hypercalciuria, hyperphosphaturia, and hypocitraturia...
- Effect of hyperoxaluria on gene expression in the kidneyGill Rumsby; Fiscal Year: 2005..caused by endogenous oxalate overproduction, with deposition of excess oxalate as either kidney stones or nephrocalcinosis. Each disease has marked clinical heterogeneity, apparently unrelated to the degree of enzyme deficiency, ..
- Control of Renal Glutaminase Expression during AcidosisNorman P Curthoys; Fiscal Year: 2012..Chronic acidosis causes mental retardation in children and osteomalacia, nephrocalcinosis and urolithiasis in adults...
- The Effect of Gastric Bypass Surgery on Renal Function and MetabolismBenjamin K Canales; Fiscal Year: 2013..RYGB patients will develop sustained hyperoxaluria post-operatively, and a subset will develop kidney stones, nephrocalcinosis, impaired renal function, or even renal failure due to oxalate nephropathy...
- Crystal Associated Renal Inflammation and Treatment OptionsSaeed R Khan; Fiscal Year: 2012..Results of such studies will improve the understanding of CaOx induced inflammation in nephrocalcinosis and nephrolithiasis...
- Hepatocyte - Based Therapies of Primary Hyperoxaluria 1Namita Roy Chowdhury; Fiscal Year: 2010..Increased urinary oxalate excretion causes nephrocalcinosis and urolithiasis, leading to renal failure and consequent tissue oxalosis with life-threatening complications...
- BIOCHEMICAL AND BIOPHYSICAL NATURE OF CLAUDIN-16 AND CLAUDIN-19 CHANNELSJianghui Hou; Fiscal Year: 2013..are responsible for the hereditary renal disease FHHNC (Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis)...
- Role of renal sodium-phosphate co-transporter NaPI-Iic in phosphate homeostasisClemens Bergwitz; Fiscal Year: 2011..Abnormal renal calcium and phosphate handling is seen in patients with nephrocalcinosis, nephrolithiasis and chronic kidney disease (CKD), disorders that affect a large number of Americans today...
- REGULATION OF ENTERIC HYPEROXALURI BY OXALOBACTERAMMON PECK; Fiscal Year: 2001..per gram feces and the frequency of recurrent urolithiasis, inflammatory bowel disease and hyperoxaluria/nephrocalcinosis in cystic fibrosis...
- Proximal Tubule Transport Defect in Hyp MiceMichel Baum; Fiscal Year: 2007..results in improvement of rickets but can result in hyperparathyroidism, hypercalcemia, hypercalciuria and nephrocalcinosis. We have found that the Hyp mouse, which has the same genetic defect as humans with X-linked hypophosphatemia,..
- Oxalate-Induced Renal Scarring and Crystal RetentionJOHN LIESKE; Fiscal Year: 2003..to gastrointestinal malabsorption is not, and in both disease states oxalate-induced nephrolithiasis, nephrocalcinosis, and renal scarring can cause renal failure and death...
- X-LINKED NEPHROLITHIASIS--MOLECULAR AND CLINICAL STUDIESSTEVEN SCHEINMAN; Fiscal Year: 1999..has recently described a disease characterized by nephrolithiasis, renal proximal tubular dysfunction, nephrocalcinosis, and ultimately renal failure, affecting only males and inherited in an X-linked recessive pattern...
- GPHRP KNOCKOUT MOUSE AS A MODEL OF HYPEROXALURIAScott Cramer; Fiscal Year: 2003..Overproduction of oxalate can lead to calcium oxalate stone disease, nephrocalcinosis, end-stage renal failure, and systemic oxalosis...
- GROWTH, ACIDOSIS & RENAL DISORDER IN TYPE 1 RTAELISABETH MC SHERRY; Fiscal Year: 1980..In each of 7 patients in whom adequate alkali therapy was started before age 3 years, nephrocalcinosis was not radiographically demonstrated at ages 7-17 years...
- METABOLISM OF DIETARY ALUMINUMJANET GREGER; Fiscal Year: 1992..In the assessment of effects of dietary Ca on A1 retention, we will evaluate the effect of confounding factors such as poor growth and reduced food intake when calcium intake is very low and nephrocalcinosis when calcium intake is high.
- Prevention of Renal Damage in Primary HyperoxaluriaDawn Milliner; Fiscal Year: 2008..While most patients experience nephrocalcinosis and/or repeated episodes of urolithiasis in childhood, some develop renal failure as early as infancy while ..
- Continuous Treatment with Oxalate Changes Renal Physiology and Morphology (DK0750Susan Ruth Marengo; Fiscal Year: 2008unreadable] DESCRIPTION (provided by applicant): The role that oxalate plays in calcium oxalate (CaOx) nephrocalcinosis and oxalate driven nephrolithiasis is not well understood...
- Tools for mapping transcriptional networksUri Alon; Fiscal Year: 2006..We expect that the analysis tools and concepts developed in E. coli will be very useful in mapping complex regulatory circuits in other cell types. [unreadable] [unreadable]..
- 7th International Workshop on Primary HyperoxaluriaDawn Milliner; Fiscal Year: 2005..Recent crystallization of the AGT protein, and advances in the molecular genetics, diagnostic testing, and pharmacogenomics of PH make 2004 an exciting year for the 7th Workshop. ..
- Oxalate & Crystal Renal Phenotypes: A Microarray StudySusan Ruth Marengo; Fiscal Year: 2003..The long term objective of this work is to establish the mechanism of oxalate induced damage in the kidney. ..
- TEM with Digital and Cryopreparation SystemsAndrew Evan; Fiscal Year: 2003..Dr. Richard Gregory will employ immunohistochemistry to examine the role of a Streptococcus mutans 65 kDa fimbrial protein binding as a mechanism for the induction of dental carries. ..
- IKSI: 2nd International Urolithiasis Research SymposiumAndrew Evan; Fiscal Year: 2008..This assumption was supported by the great success of the 1st International Urolithiasis Research symposium and the high level of interest in the 2nd symposium date. [unreadable] [unreadable] [unreadable]..
- Risk for Renal Injury Caused by Shock Wave LithotripsyAndrew Evan; Fiscal Year: 2008..All of these proposed studies aim at understanding the adverse effects of shock waves and advancing the safety of all stone patients at a time when reports of adverse effects in SWL are on the rise. ..
- IKSI: 1st Annual International Urolithiasis Research SymposiumAndrew Evan; Fiscal Year: 2007..unreadable] [unreadable] [unreadable]..
- CaP, crystal responsible for idiopathic nephrolithasisSaeed Khan; Fiscal Year: 2008..Type density and size must conform to limits and specifications provided in the PHS 398Instructions. RESEARCH GRANT TABLE OF CONTENTS Page Numbers Face Page 1 Description, ..
- TISSUE-CRYSTAL INTERACTION CA OXALATE NEPHROLITHIASISSaeed Khan; Fiscal Year: 2003..We can follow various events of nephrolithiasis in the animal model and cats explore the outcome of renal epithelial cell exposure to oxalate and calcium oxalate crystals in the cell cultures. ..
- Role of Nanobacteria in Human Calcifying DiseaseJOHN LIESKE; Fiscal Year: 2004..abstract_text> ..
- Novel Risk Factors for Kidney Stone FormationEric Taylor; Fiscal Year: 2008..At the completion of this career development award, Dr. Taylor will have a unique combination of skills and experience that will enable him to succeed as an independent clinical investigator. ..
- INTER ALPHA TRYPSIN INHIBITOR IN CAOX UROLITHIASISSusan Ruth Marengo; Fiscal Year: 2002..e. the liver the primary source of serum IaTI- trimer), or locally (kidney) as judged by Northern blot analysis of RNA message for each of the IaTI-subunits and by Western blot/ELISA of the protein. ..
- GENETIC STUDIES OF COMMON CONGENITAL HEART DEFECTSJohn Belmont; Fiscal Year: 2004..The proposed studies will provide a base on which to advance genetic analyses of a substantial group of congenital heart defects with the aim of reducing their occurrence and providing new treatment opportunities. ..