当前位置： SCI文献检索 > KIDNEY INTERNATIONAL期刊下所有文献 > Mutations in the COL4A4 gene in thin basement membrane disease.

Mutations in the COL4A4 gene in thin basement membrane disease.

Abstract：

BACKGROUND:Patients with thin basement membrane disease (TBMD) are often from families where hematuria segregates with the COL4A3 and COL4A4 genes. These genes also are affected in autosomal recessive Alport syndrome. The aim of this study was to demonstrate COL4A4 mutations in TBMD. METHODS:Forty-eight unrelated individuals with TBMD who had no family members with autosomal recessive Alport syndrome were examined for COL4A4 mutations. The diagnosis of TBMD had been confirmed by renal biopsy (43/48, 90%) or by a family history of hematuria but without a renal biopsy (5/48, 10%). The 47 coding exons of COL4A4 were screened for mutations with the methods of enzyme mismatch cleavage or single stranded conformational polymorphism (SSCP) analysis, and exons that demonstrated electrophoretic abnormalities were sequenced. RESULTS:Nine variants that altered the coding sequences were identified. These were nonsense and frameshift mutations that resulted in stop codons (N = 3), and glycine (N = 3) and non-glycine missense variants (N = 3). Four intronic variants and three neutral polymorphisms were also detected. In total, four variants were considered 'pathogenic' principally because they resulted in stop codons or were not present in non-hematuric normal subjects. Three variants were considered 'possibly pathogenic' but two of these were each present in one of 46 non-hematuric normal subjects. CONCLUSIONS:Pathogenic COL4A4 mutations were demonstrated in three of the nine (33%) families in whom hematuria segregated with the COL4A3/COL4A4 locus. Two stop codons (R1377X and 2788/91delG) and a glycine substitution (G960R) resulted in hematuria in all 16 members who were tested from these three families. The S969X mutation described here in TBMD for the first time, as well as the R1377X mutation, also occur in autosomal recessive Alport syndrome.

journal_name

Kidney Int

journal_title

Kidney international

authors

Buzza M,Dagher H,Wang YY,Wilson D,Babon JJ,Cotton RG,Savige J

doi

10.1046/j.1523-1755.2003.00780.x

subject

Has Abstract

pub_date

2003-02-01 00:00:00

pages

447-53

issue

2

eissn

0085-2538

issn

1523-1755

pii

S0085-2538(15)48898-2

journal_volume

63

pub_type

杂志文章

相关文献

KIDNEY INTERNATIONAL文献大全
  • Chronic peritoneal dialysis in iron-deficient rats with solutions containing iron dextran.

    abstract：BACKGROUND:We evaluated the effects of different concentrations of iron dextran administered through the intraperitoneal route, in iron-deficient rats, on hematocrit (Hct in percentage), serum iron (mg/dL), total iron binding capacity (TIBC in mg/dL), and the function and histology of the peritoneal membrane. METHODS:...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1046/j.1523-1755.2001.059002764.x

    authors： Reddy DK,Moore HL,Lee JH,Saran R,Nolph KD,Khanna R,Twardowski ZJ

    更新日期：2001-02-01 00:00:00

  • Leukocyte and serum S100A8/S100A9 expression reflects disease activity in ANCA-associated vasculitis and glomerulonephritis.

    abstract：:Antineutrophil cytoplasm antibody (ANCA)-associated vasculitis (AAV) commonly results in glomerulonephritis, in which neutrophils and monocytes have important roles. The heterodimer calprotectin (S100A8/S100A9, mrp8/14) is a Toll-like receptor-4 ligand found in neutrophils and monocytes and is elevated in inflammatory...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.2013.2

    authors： Pepper RJ,Hamour S,Chavele KM,Todd SK,Rasmussen N,Flint S,Lyons PA,Smith KG,Pusey CD,Cook HT,Salama AD

    更新日期：2013-06-01 00:00:00

  • Collapsing glomerulopathy is common in the setting of thrombotic microangiopathy of the native kidney.

    abstract：:Thrombotic microangiopathy (TMA) is a poorly recognized cause of collapsing glomerulopathy. The frequency and significance of collapsing glomerulopathy associated with renal TMA have not been specifically studied in native kidney biopsy specimens. Here we retrospectively documented clinicopathologic features of 53 pat...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1016/j.kint.2016.07.021

    authors： Buob D,Decambron M,Gnemmi V,Frimat M,Hoffmann M,Azar R,Gheerbrant JD,Guincestre T,Noël C,Copin MC,Glowacki F

    更新日期：2016-12-01 00:00:00

  • Revisiting inflammation in diabetic nephropathy: the role of the Nlrp3 inflammasome in glomerular resident cells.

    abstract：:Inflammation is a protective response to remove dangerous stimuli from the body. The multiprotein complex called the inflammasome regulates inflammation through the cleavage of proinflammatory cytokines into mature forms. Shahzad et al. unravel the importance of the Nlrp3 inflammasome, especially activated in glomerul...

    journal_title：Kidney international

    pub_type： 评论,杂志文章

    doi：10.1038/ki.2014.322

    authors： Sakai N,Wada T

    更新日期：2015-01-01 00:00:00

  • Oral zeranol shortens the prolonged bleeding time of uremic rats.

    abstract：:Intravenous conjugated estrogens reduce the prolonged bleeding time in uremic patients and in a rat model of uremia. However, estrogens have major side effects related to their hormonal activity. We investigated whether a beta-resorcylic acid lactone, zeranol (a compound with close spatial similarity to estrogens but ...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.1990.172

    authors： Zoja C,Viganò G,Corna D,Salmona M,Remuzzi G,Garattini S

    更新日期：1990-07-01 00:00:00

  • Fibrinolytic activity of human mesothelial cells is counteracted by rapid uptake of tissue-type plasminogen activator.

    abstract：BACKGROUND:Human mesothelial cells (HMCs) have an important role in maintaining an adequately functioning fibrinolytic system in the peritoneal cavity by secreting the fibrinolytic enzymes tissue-type and urokinase-type plasminogen activator (t-PA and u-PA), as well as a specific PA inhibitor, PA inhibitor type 1 (PAI-...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1046/j.1523-1755.1999.00244.x

    authors： Sitter T,Toet K,Quax P,Kooistra T

    更新日期：1999-01-01 00:00:00

  • Targeted inhibition of the type 2 cannabinoid receptor is a novel approach to reduce renal fibrosis.

    abstract：:The cannabinoid receptor type 2 (CB2) is a G protein-coupled seven transmembrane receptor that transmits endogenous cannabinoid signaling. The role of CB2 in the pathogenesis of kidney injury and fibrosis remains poorly understood. Here we demonstrate that CB2 was induced, predominantly in kidney tubular epithelium, i...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1016/j.kint.2018.05.023

    authors： Zhou L,Zhou S,Yang P,Tian Y,Feng Z,Xie XQ,Liu Y

    更新日期：2018-10-01 00:00:00

  • Renal pathology and retinol status in multiple myeloma patients.

    abstract：:Renal dysfunction is a common and serious complication in multiple myeloma (MM) patients. Renal proximal tubule injury is characteristic in MM, and may result in disturbed renal handling of various vitamins. The abnormal excretion of vitamins in urine may result in their low serum levels. The goal of this study was to...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/sj.ki.5000024

    authors： Gavrilov V,Yermiahu T,Gorodischer R

    更新日期：2006-01-01 00:00:00

  • The intensity of acidosis differentially alters the pathways of ammoniagenesis in LLC-PK1 cells.

    abstract：:Utilizing [5-15N] and [2-15N]-labeled glutamine and gas chromatography mass spectrometry methodology, we examined the pathways of ammoniagenesis under basal and acute acidotic conditions of pH 7.0 and pH 6.8, respectively. LLC-PK1 cultures were incubated for one hour with gentle rocking in a bicarbonate buffer of pH 7...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.1994.137

    authors： Nissim I,Sahai A,Sandler RS,Tannen RL

    更新日期：1994-04-01 00:00:00

  • Differential expression of transforming growth factor-beta isoforms and receptors in experimental membranous nephropathy.

    abstract：:In membranous nephropathy (MN) overproduction of matrix by glomerular epithelial cells (GEC) is believed to be responsible for glomerular basement membrane thickening and spikes. We studied experimental MN in rats (passive Heymann nephritis, PHN) at 5, 10 and 30 days. PHN rats exhibited a marked increase in GEC immuno...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.1996.294

    authors： Shankland SJ,Pippin J,Pichler RH,Gordon KL,Friedman S,Gold LI,Johnson RJ,Couser WG

    更新日期：1996-07-01 00:00:00

  • Sigmoidal relationship between calcitonin and calcium: studies in normal, parathyroidectomized, and azotemic rats.

    abstract：:Calcitonin secretion is stimulated by acute hypercalcemia. Furthermore, in the rat, the calcemic response to parathyroid hormone (PTH) is decreased by calcitonin stimulation. However, in renal failure, it is not known if an increase in the serum calcium concentration within the physiologic range of serum calcium stimu...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.1991.263

    authors： Torres A,Rodriguez M,Felsenfeld A,Martin-Malo A,Llach F

    更新日期：1991-10-01 00:00:00

  • Developmental changes in rat renal 11 beta-hydroxysteroid dehydrogenase.

    abstract：:11 beta-hydroxysteroid dehydrogenase (11 beta-OHSD) transforms endogenous glucocorticoids to their respective "biologically inert" 11-dehydro derivatives. A decrease in enzyme activity allows glucocorticoids to induce mineralocorticoid-like renal sodium retention. Since positive sodium balance is required for optimum ...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.1994.91

    authors： Brem AS,Bina B,Matheson KL,Barnes JL,Morris DJ

    更新日期：1994-03-01 00:00:00

  • Theophylline prevents the hypoxemia-induced renal hemodynamic changes in rabbits.

    abstract：:The acute renal effects of hypoxemia and the ability of theophylline to prevent these effects were assessed in anesthetized and mechanically-ventilated newborn and adult rabbits. Renal blood flow (RBF) and glomerular filtration rate (GFR) were determined by the clearance of para-aminohippuric acid and inulin, respecti...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.1988.114

    authors： Gouyon JB,Guignard JP

    更新日期：1988-06-01 00:00:00

  • Immune evasion in renal cell carcinoma: biology, clinical translation, future directions.

    abstract：:Targeted therapies and immune checkpoint inhibitors have advanced the treatment landscape of Renal Cell Carcinoma (RCC) over the last decade. While checkpoint inhibitors have demonstrated survival benefit and are currently approved in the front-line and second-line settings, primary and secondary resistance is common....

    journal_title：Kidney international

    pub_type： 杂志文章,评审

    doi：10.1016/j.kint.2020.08.028

    authors： Wang X,Lopez R,Luchtel RA,Hafizi S,Gartrell B,Shenoy N

    更新日期：2021-01-01 00:00:00

  • Syndecan-1 deficiency aggravates anti-glomerular basement membrane nephritis.

    abstract：:During the heterologous phase of experimental anti-glomerular basement membrane (anti-GBM) nephritis, leukocyte influx peaks within hours, whereas albuminuria occurs within 1 day. In the subsequent autologous phase, endogenous anti-GBM IgG develops and albuminuria persists. Heparan sulfate (HS) proteoglycans like synd...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/sj.ki.5002514

    authors： Rops AL,Götte M,Baselmans MH,van den Hoven MJ,Steenbergen EJ,Lensen JF,Wijnhoven TJ,Cevikbas F,van den Heuvel LP,van Kuppevelt TH,Berden JH,van der Vlag J

    更新日期：2007-11-01 00:00:00

  • Klotho upregulation by rapamycin protects against vascular disease in CKD.

    abstract：:Medial arterial calcification involves chondrogenic/osteogenic transdifferentiation of vascular smooth muscle cells (VSMCs). Zhao et al. report that phosphate activates the mammalian target of rapamycin (mTOR) cascade in VSMCs, leading to downregulation of Klotho. Furthermore, rapamycin was shown to halt medial calcif...

    journal_title：Kidney international

    pub_type： 评论,杂志文章

    doi：10.1038/ki.2015.223

    authors： Hamano T

    更新日期：2015-10-01 00:00:00

  • Effect of chronic renal failure on high-density lipoprotein kinetics.

    abstract：:Plasma lipid and lipoprotein concentration and high density lipoprotein (HDL) kinetics were determined in control subjects and patients with chronic renal failure (CRF). Results demonstrated that plasma triglyceride (TG) concentration was significantly higher (P less than 0.001) in patients with CRF, associated with a...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.1990.114

    authors： Fuh MM,Lee CM,Jeng CY,Shen DC,Shieh SM,Reaven GM,Chen YD

    更新日期：1990-05-01 00:00:00

  • Modulation of Ca2+-activated K+ channel in renal artery endothelium in situ by nitric oxide and reactive oxygen species.

    abstract：BACKGROUND:Endothelium-derived nitric oxide and reactive oxygen species (ROS) have been proposed to regulate vascular tone by complex mechanisms, including the modulation of ion channel function. In endothelial function itself, activation of Ca2+-activated K+ channels (KCa) plays a crucial role by inducing hyperpolariz...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1046/j.1523-1755.2003.00051.x

    authors： Brakemeier S,Eichler I,Knorr A,Fassheber T,Köhler R,Hoyer J

    更新日期：2003-07-01 00:00:00

  • Localization of lanthanum in bone of chronic renal failure rats after oral dosing with lanthanum carbonate.

    abstract：BACKGROUND:Lanthanum carbonate has been shown to be a safe, effective phosphate-binding agent. We have shown that an impaired mineralization in chronic renal failure rats treated with high doses of lanthanum carbonate develops secondary to phosphate depletion and is therefore pharmacologically mediated rather than a di...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1111/j.1523-1755.2005.00281.x

    authors： Behets GJ,Verberckmoes SC,Oste L,Bervoets AR,Salomé M,Cox AG,Denton J,De Broe ME,D'Haese PC

    更新日期：2005-05-01 00:00:00

  • Mesangial cell signaling cascades in response to mechanical strain and glucose.

    abstract：BACKGROUND:Elevated glucose levels and glomerular hypertension (Pgc) are considered to contribute to the elaboration of matrix protein by mesangial cells (MCs) in diabetic glomeruli. MCs grown in 30 mM of glucose produce excessive matrix protein, as do MCs exposed to cyclic strain, and the combination of the two exacer...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1046/j.1523-1755.1999.00743.x

    authors： Ingram AJ,Ly H,Thai K,Kang MJ,Scholey JW

    更新日期：1999-11-01 00:00:00

  • Transplant approach establishes that kidneys are responsible for serum CSF-1 but require a stimulus in MRL-lpr mice.

    abstract：:Colony stimulating factor-1 (CSF-1) is a chemoattractant and growth factor for macrophages. In autoimmune MRL-lpr mice, CSF-1 is detected in the circulation and there is an increase in CSF-1 transcripts and macrophages in the kidney. The purpose of this study was to establish whether the MRL-lpr kidney is responsible ...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.1996.9

    authors： Naito T,Griffiths RC,Coffman TM,Kelley VR

    更新日期：1996-01-01 00:00:00

  • Effect of chronic uremia in the rat on cerebral mitochondrial calcium concentrations.

    abstract：:Whole cerebral and isolated mitochondrial calcium levels were determined in normal and chronically uremic Sprague-Dawley rats. Uremia was induced by a two-stage 5/6 nephrectomy 4 weeks prior to study. Serum was obtained for urea, calcium, magnesium, phosphate, and i-PTH. Mitochondria were isolated by gradient centrifu...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.1985.42

    authors： Adler AJ,Berlyne GM

    更新日期：1985-03-01 00:00:00

  • Vasopressin regulation of blood pressure and volume: findings from V1a receptor-deficient mice.

    abstract：:[Arg(8)]-vasopressin (AVP) has several functions via its three distinct receptors, V1a, V1b, and V2. The V1a vasopressin receptor (V1aR) is expressed in blood vessels and involved in vascular contraction. Recently, we generated V1a receptor-deficient (V1aR(-/-)) mice and found that they were hypotensive. In addition, ...

    journal_title：Kidney international

    pub_type： 杂志文章,评审

    doi：10.1038/ki.2009.319

    authors： Aoyagi T,Koshimizu TA,Tanoue A

    更新日期：2009-11-01 00:00:00

  • Differences in tolerance for health risk to the living donor among potential donors, recipients, and transplant professionals.

    abstract：:In organ donation, the donor, recipient, and transplant team must all accept potential health risks to the donor and any uncertainties. To gauge these risks, we surveyed general altruism and risk-taking behaviors in 112 potential donors, 111 potential recipients, and 51 transplant professionals. Next, participants ind...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.2008.65

    authors： Young A,Karpinski M,Treleaven D,Waterman A,Parikh CR,Thiessen-Philbrook H,Yang RC,Garg AX

    更新日期：2008-05-01 00:00:00

  • Proinflammatory gene expression and macrophage recruitment in the rat remnant kidney.

    abstract：BACKGROUND:Macrophage (Mphi) infiltration may contribute to chronic renal injury. We therefore sought to examine the expression of genes associated with Mphi recruitment in the rat remnant kidney model. METHODS:Male Munich Wistar rats underwent 5/6 nephrectomy or sham operation (SHM, N = 18) and received no treatment ...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1111/j.1523-1755.2000.00327.x

    authors： Taal MW,Zandi-Nejad K,Weening B,Shahsafaei A,Kato S,Lee KW,Ziai F,Jiang T,Brenner BM,MacKenzie HS

    更新日期：2000-10-01 00:00:00

  • Renal function in high dose chemotherapy and autologous hematopoietic cell support treatment for breast cancer.

    abstract：:Autologous and allogeneic bone marrow grafting both require cytoreductive therapy but only the allogeneic procedure requires immunosuppressive agents. Allogeneic bone marrow transplantation has been reported to be associated with a high incidence of both renal failure and veno-occlusive disease (VOD) of the liver, the...

    journal_title：Kidney international

    pub_type： 临床试验,杂志文章

    doi：10.1038/ki.1996.405

    authors： Merouani A,Shpall EJ,Jones RB,Archer PG,Schrier RW

    更新日期：1996-09-01 00:00:00

  • Roscovitine blocks collecting duct cyst growth in Cep164-deficient kidneys.

    abstract：:Nephronophthisis is an autosomal recessive kidney disease with high genetic heterogeneity. Understanding the functions of the individual genes contributing to this disease is critical for delineating the pathomechanisms of this disorder. Here, we investigated kidney function of a novel gene associated with nephronopht...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1016/j.kint.2019.04.014

    authors： Airik R,Airik M,Schueler M,Bates CM,Hildebrandt F

    更新日期：2019-08-01 00:00:00

  • Peeking into the black box: new biomarkers for acute kidney injury.

    abstract：:The development of effective therapies for acute kidney injury (AKI) has been hindered by delayed diagnosis in the clinical setting, varying definitions of AKI, and limited prognostic information. In a study by Portilla et al., elevations in liver fatty acid-binding protein (L-FABP) were found to predict AKI in childr...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/sj.ki.5002739

    authors： Thurman JM,Parikh CR

    更新日期：2008-02-01 00:00:00

  • G protein beta3 subunit C825T polymorphism in primary IgA nephropathy.

    abstract：BACKGROUND:The T allele of the G protein beta3 subunit (GNB3) C825T polymorphism has been associated with increased signal transduction, increased activity of the kidney Na+/H+ exchanger, and also with late-onset essential hypertension. Hypertension is a strong independent risk factor for progression in IgA nephropathy...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1111/j.1523-1755.2004.00734.x

    authors： Thibaudin L,Berthoux P,Thibaudin D,Mariat C,Berthoux F

    更新日期：2004-07-01 00:00:00

  • Binding of factor H to tubular epithelial cells limits interstitial complement activation in ischemic injury.

    abstract：:Factor H is a regulator of the alternative pathway of complement, and genetic studies have shown that patients with mutations in factor H are at increased risk for several types of renal disease. Pathogenic activation of the alternative pathway in acquired diseases, such as ischemic acute kidney injury, suggests that ...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.2011.115

    authors： Renner B,Ferreira VP,Cortes C,Goldberg R,Ljubanovic D,Pangburn MK,Pickering MC,Tomlinson S,Holland-Neidermyer A,Strassheim D,Holers VM,Thurman JM

    更新日期：2011-07-01 00:00:00