当前位置： SCI文献检索 > KIDNEY INTERNATIONAL期刊下所有文献 > Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.

Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.

Abstract：

BACKGROUND:Autosomal-dominant medullary cystic kidney disease type 2 (MCKD2) is a tubulointerstitial nephropathy that causes renal salt wasting, hyperuricemia, gout, and end-stage renal failure in the fifth decade of life. The chromosomal locus for MCKD2 was localized on chromosome 16p12. Within this chromosomal region, Uromodulin (UMOD) was located as a candidate gene. UMOD encodes the Tamm-Horsfall protein. By sequence analysis, one group formerly excluded UMOD as the disease-causing gene. In contrast, recently, another group described mutations in the UMOD gene as responsible for MCKD2 and familial juvenile hyperuricemic nephropathy (FJHN). METHODS:Haplotype analysis for linkage to MCKD2 was performed in 25 MCKD families. In the kindreds showing linkage to the MCKD2 locus on chromosome 16p12, mutational analysis of the UMOD gene was performed by exon polymerase chain reaction (PCR) and direct sequencing. RESULTS:In 19 families, haplotype analysis was compatible with linkage to the MCKD2 locus. All these kindreds were examined for mutations in the UMOD gene. In three different families, three novel heterozygous mutations in the UMOD gene were found and segregated with the phenotype in affected individuals. Mutations were found only in exon 4. CONCLUSION:We confirm the UMOD gene as the disease-causing gene for MCKD2. All three novel mutations were found in the fourth exon of UMOD, in which all mutations except one (this is located in the neighboring exon 5) published so far are located. These data point to a specific role of exon 4 encoded sequence of UMOD in the generation of the MCKD2 renal phenotype.

journal_name

Kidney Int

journal_title

Kidney international

authors

Wolf MT,Mucha BE,Attanasio M,Zalewski I,Karle SM,Neumann HP,Rahman N,Bader B,Baldamus CA,Otto E,Witzgall R,Fuchshuber A,Hildebrandt F

doi

10.1046/j.1523-1755.2003.00269.x

subject

Has Abstract

pub_date

2003-11-01 00:00:00

pages

1580-7

issue

5

eissn

0085-2538

issn

1523-1755

pii

S0085-2538(15)49508-0

journal_volume

64

pub_type

杂志文章

相关文献

KIDNEY INTERNATIONAL文献大全
  • Aortic and large artery compliance in end-stage renal failure.

    abstract：:Pulse wave velocity (PWV) was measured in the aorta, right leg and arm of 90 control subjects (CS) and 92 hemodialysis patients (HD) of the same age and mean arterial pressure (MAP). Blood chemistry, including blood lipids, and echographic dimensions of the aorta, were measured in all subjects. Presence of aortic calc...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.1990.19

    authors： London GM,Marchais SJ,Safar ME,Genest AF,Guerin AP,Metivier F,Chedid K,London AM

    更新日期：1990-01-01 00:00:00

  • The Oxford classification of IgA nephropathy: pathology definitions, correlations, and reproducibility.

    abstract：:Pathological classifications in current use for the assessment of glomerular disease have been typically opinion-based and built on the expert assumptions of renal pathologists about lesions historically thought to be relevant to prognosis. Here we develop a unique approach for the pathological classification of a glo...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.2009.168

    authors： Working Group of the International IgA Nephropathy Network and the Renal Pathology Society.,Roberts IS,Cook HT,Troyanov S,Alpers CE,Amore A,Barratt J,Berthoux F,Bonsib S,Bruijn JA,Cattran DC,Coppo R,D'Agati V,D'Amico G,Emanci

    更新日期：2009-09-01 00:00:00

  • Chronic metabolic acidosis accelerates whole body proteolysis and oxidation in awake rats.

    abstract：:Previous work has documented an acceleration of proteolysis and branched-chain amino acid oxidation when muscles from rats with chronic metabolic acidosis were incubated in vitro. The present study examines the impact of chronic metabolic acidosis on whole body amino acid turnover and oxidation in chronically catheter...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.1992.223

    authors： May RC,Masud T,Logue B,Bailey J,England B

    更新日期：1992-06-01 00:00:00

  • Calcitonin, an important factor in the calcemic response to parathyroid hormone in the rat.

    abstract：:The role of calcitonin on the calcemic response to parathyroid hormone (PTH) in renal failure has not been evaluated previously. Often animal studies evaluating the calcemic response to PTH in renal failure are performed in thyroparathyroidectomized (TPTX) animals, and thus eliminate any potential physiologic effect o...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.1991.203

    authors： Rodriguez M,Felsenfeld AJ,Torres A,Pederson L,Llach F

    更新日期：1991-08-01 00:00:00

  • Induced pluripotent stem cells provide mega insights into kidney disease.

    abstract：:Rare mutations in the LRP2 gene encoding for the endocytic receptor megalin cause developmental abnormalities and kidney disease. However, the mechanisms governing the dysfunction of mutant megalin remain unclear. A new study utilizing patient-derived induced pluripotent stem cells is now putting the endolysosomal sys...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1016/j.kint.2020.04.033

    authors： Luciani A,Freedman BS

    更新日期：2020-07-01 00:00:00

  • Lack of evidence of blood pressure-independent protection by renin-angiotensin system blockade after renal ablation.

    abstract：BACKGROUND:The superiority of renin-angiotensin system (RAS) blockade in providing renoprotection has been attributed to class-specific blood pressure "(BP)-independent" mechanisms. However, the conventional BP measurement methodology on which such conclusions are based is inherently limited for an accurate assessment ...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1046/j.1523-1755.2000.00009.x

    authors： Bidani AK,Griffin KA,Bakris G,Picken MM

    更新日期：2000-04-01 00:00:00

  • Cardiac baroreceptor sensitivity: a prognostic marker in predialysis chronic kidney disease patients?

    abstract：BACKGROUND:Small, uncontrolled studies of dialysis-dependent chronic kidney disease (CKD) patients have demonstrated abnormalities of cardiovascular autonomic control and vascular compliance, which may contribute to adverse cardiovascular morbidity in this population. However, there is little information utilizing newe...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1111/j.1523-1755.2005.00165.x

    authors： Bavanandan S,Ajayi S,Fentum B,Paul SK,Carr SJ,Robinson TG

    更新日期：2005-03-01 00:00:00

  • Preserved Na/HCO3 cotransporter sensitivity to insulin may promote hypertension in metabolic syndrome.

    abstract：:Hyperinsulinemia can contribute to hypertension through effects on sodium transport. To test whether the stimulatory effect of insulin on renal proximal tubule sodium transport is preserved in insulin resistance, we compared the effects of insulin on abdominal adipocytes and proximal tubules in rats and humans. Insuli...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.2014.351

    authors： Nakamura M,Yamazaki O,Shirai A,Horita S,Satoh N,Suzuki M,Hamasaki Y,Noiri E,Kume H,Enomoto Y,Homma Y,Seki G

    更新日期：2015-03-01 00:00:00

  • Location of mutations within the PKD2 gene influences clinical outcome.

    abstract：BACKGROUND:Since the cloning of the gene for autosomal dominant polycystic kidney disease type 2 (PKD2), approximately 40 different mutations of that gene have been reported to be associated with the disease. The relationship between the PKD2 genotype and phenotype, however, remains unclear. METHODS:Detailed clinical ...

    journal_title：Kidney international

    pub_type： 杂志文章,多中心研究

    doi：10.1046/j.1523-1755.2000.00989.x

    authors： Hateboer N,Veldhuisen B,Peters D,Breuning MH,San-Millán JL,Bogdanova N,Coto E,van Dijk MA,Afzal AR,Jeffery S,Saggar-Malik AK,Torra R,Dimitrakov D,Martinez I,de Castro SS,Krawczak M,Ravine D

    更新日期：2000-04-01 00:00:00

  • Angiotensin II: breathtaking in the renal medulla.

    abstract：:Angiotensin II (Ang II) is a major contributor to the progression of renal fibrosis. Wang and colleagues provide evidence that signaling through the prolyl-4-hydroxylase domain (PHD)-hypoxia-inducible factor-1 (HIF-1) pathway mediates profibrotic effects of Ang II in rat renal medullary interstitial cells under normox...

    journal_title：Kidney international

    pub_type： 评论,杂志文章

    doi：10.1038/ki.2010.434

    authors： Haase VH

    更新日期：2011-02-01 00:00:00

  • Effects of rhGH and rhIGF-1 on renal growth and morphology.

    abstract：:It is known that in rodents recombinant human growth hormone (rhGH) and recombinant human insulin-like growth factor (rhIGF-1) increase renal mass. It is uncertain, however, whether renal mass increases in proportion to body growth, or whether renal growth is stimulated selectively. In 120 to 150 g female Sprague-Dawl...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.1993.376

    authors： Mehls O,Irzynjec T,Ritz E,Eden S,Kovàcs G,Klaus G,Floege J,Mall G

    更新日期：1993-12-01 00:00:00

  • Dimethylglycine accumulates in uremia and predicts elevated plasma homocysteine concentrations.

    abstract：BACKGROUND:Hyperhomocysteinemia is a risk factor for atherosclerosis that is common in chronic renal failure (CRF), but its cause is unknown. Homocysteine metabolism is linked to betaine-homocysteine methyl transferase (BHMT), a zinc metalloenzyme that converts glycine betaine (GB) to N,N dimethylglycine (DMG). DMG is ...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1046/j.1523-1755.2001.00743.x

    authors： McGregor DO,Dellow WJ,Lever M,George PM,Robson RA,Chambers ST

    更新日期：2001-06-01 00:00:00

  • Alloreactive T cells and 'the persistence of memory'.

    abstract：:Circulating donor-reactive effector memory T cells have been associated with allograft injury in humans. The next step to translate this observation into clinical practice is the design of clinical trials aimed at individualization of T cell-targeted therapy. The administration of immunosuppressive therapy based on th...

    journal_title：Kidney international

    pub_type： 评论,杂志文章

    doi：10.1038/ki.2013.295

    authors： Poggio ED,Augustine JJ

    更新日期：2013-12-01 00:00:00

  • Blockade of Angiotensin II type-1 receptor reduces oxidative stress in adipose tissue and ameliorates adipocytokine dysregulation.

    abstract：:Dysregulated production of adipocytokines may be involved in the development of atherosclerotic cardiovascular disease in metabolic syndrome and chronic kidney disease (CKD) associated with metabolic syndrome. The aim of this study was to determine the effects of treatment with angiotensin II (Ang II) type-1 receptor ...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/sj.ki.5001810

    authors： Kurata A,Nishizawa H,Kihara S,Maeda N,Sonoda M,Okada T,Ohashi K,Hibuse T,Fujita K,Yasui A,Hiuge A,Kumada M,Kuriyama H,Shimomura I,Funahashi T

    更新日期：2006-11-01 00:00:00

  • Enzyme activity in obstructive uropathy: basis for salt wastage and the acidification defect.

    abstract：:Unilateral ureteral obstruction results in marked changes in renal function throughout the nephron, including impaired acid and potassium secretion and salt wastage. The nephron site believed responsible for the acidification defect is the collecting duct. It has been presumed, although not demonstrated, that the cell...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.1990.11

    authors： Sabatini S,Kurtzman NA

    更新日期：1990-01-01 00:00:00

  • Histopathology and surgical anatomy of patients with primary hyperparathyroidism and calcium phosphate stones.

    abstract：:Using a combination of intra-operative digital photography and micro-biopsy we measured renal cortical and papillary changes in five patients with primary hyperparathyroidism and abundant calcium phosphate kidney stones. Major tissue changes were variable papillary flattening and retraction, dilation of the ducts of B...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.2008.161

    authors： Evan AE,Lingeman JE,Coe FL,Miller NL,Bledsoe SB,Sommer AJ,Williams JC,Shao Y,Worcester EM

    更新日期：2008-07-01 00:00:00

  • Sum of segmental bioimpedance analysis during ultrafiltration and hemodialysis reduces sensitivity to changes in body position.

    abstract：BACKGROUND:Bioimpedance, a noninvasive technique to analyze body composition, has attracted interest in determining body hydration in hemodialysis patients. However, the so-called whole-body (wrist-to-ankle) bioimpedance analysis (WBIA) is sensitive to changes in regional fluid distribution and tends to underestimate f...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1046/j.1523-1755.1999.00588.x

    authors： Zhu F,Schneditz D,Levin NW

    更新日期：1999-08-01 00:00:00

  • Arterial hypotension in chronic hemodialyzed patients.

    abstract：:We studied in 32 patients on maintenance hemodialysis (duration of treatment 6 to 133 months) whether duration of dialysis treatment affects blood pressure, plasma noradrenaline levels and alpha 2-adrenoceptor density (assessed in platelet membranes by 3H-yohimbine binding). Plasma noradrenaline levels were a signific...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.1987.267

    authors： Daul AE,Wang XL,Michel MC,Brodde OE

    更新日期：1987-11-01 00:00:00

  • Stress protein activation by the cyclopentenone prostaglandin 15-deoxy-delta12,14-prostaglandin J2 in human mesangial cells.

    abstract：BACKGROUND:The cyclopentenone prostaglandin 15-deoxy-delta12,14-prostaglandin J2 (15dPGJ2) affects mesangial proliferation, survival and production of proinflammatory proteins. During a survey of the mesangial cell proteome after treatment with 15dPGJ2, heat shock protein 70 (HSP70) was found to be the most conspicuous...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1111/j.1523-1755.2004.00454.x

    authors： Zhang X,Lu L,Dixon C,Wilmer W,Song H,Chen X,Rovin BH

    更新日期：2004-03-01 00:00:00

  • A novel apolipoprotein E mutation, E2 (Arg25Cys), in lipoprotein glomerulopathy.

    abstract：BACKGROUND:Lipoprotein glomerulopathy (LPG) is characterized by intraglomerular lipoprotein thrombosis and high plasma concentrations of apolipoprotein (apo) E. An apo E variant, apo E2 (Arg145Pro) Sendai, was recently identified in three patients with LPG. We detected a novel point mutation in the apo E gene in a pati...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1046/j.1523-1755.1999.00572.x

    authors： Matsunaga A,Sasaki J,Komatsu T,Kanatsu K,Tsuji E,Moriyama K,Koga T,Arakawa K,Oikawa S,Saito T,Kita T,Doi T

    更新日期：1999-08-01 00:00:00

  • Risk factors in idiopathic renal vasculitis and glomerulonephritis.

    abstract：:In this retrospective study, we analyzed clinical laboratory, and pathologic variables to determine their value in predicting survival and survival free of renal failure for 170 consecutive patients with idiopathic renal vasculitis and glomerulonephritis evaluated during a 15 year period. Of the 170 patients, 108 had ...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.1989.312

    authors： Wilkowski MJ,Velosa JA,Holley KE,Offord KP,Chu CP,Torres VE,McCarthy JT,Donadio JV Jr,Wagoner RD

    更新日期：1989-12-01 00:00:00

  • Differing regulation and function of ICAM-1 and class II antigens on renal tubular cells.

    abstract：:Intercellular adhesion molecule-1 (ICAM-1) and MHC class II (Ia) antigens are increased on proximal tubular epithelial cells (TEC) in autoimmune nephritis and transplant rejection. ICAM-1 is a member of the immunoglobulin gene superfamily that increases the avidity of T cell interactions with antigen-presenting cells ...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.1990.221

    authors： Jevnikar AM,Wuthrich RP,Takei F,Xu HW,Brennan DC,Glimcher LH,Rubin-Kelley VE

    更新日期：1990-09-01 00:00:00

  • Subtotal nephrectomy impairs ischemia-induced angiogenesis and hindlimb re-perfusion in rats.

    abstract：:Kidney disease is associated with increased cardiovascular morbidity, but underlying mechanisms are poorly understood. We tested the hypothesis that chronic renal insufficiency impairs angioadaptation in a rat model of hindlimb ischemia. Twenty male Sprague-Dawley rats (8 weeks old) underwent subtotal nephrectomy (5/6...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/sj.ki.5000448

    authors： Jacobi J,Porst M,Cordasic N,Namer B,Schmieder RE,Eckardt KU,Hilgers KF

    更新日期：2006-06-01 00:00:00

  • 1,2,3,4,6-Penta-O-galloyl-beta-D-glucose reduces renal crystallization and oxidative stress in a hyperoxaluric rat model.

    abstract：:Adhesion of calcium oxalate (CaOx) crystals to kidney cells may be a key event in the pathogenesis of kidney stones associated with marked hyperoxaluria. Previously, we found that 1,2,3,4,6-penta-O-galloyl-β-D-glucose (PGG), isolated from a traditional medicinal herb, reduced CaOx crystal adhesion to renal epithelial ...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.2010.458

    authors： Lee HJ,Jeong SJ,Lee HJ,Lee EO,Bae H,Lieske JC,Kim SH

    更新日期：2011-03-01 00:00:00

  • Expanding the use of hepatitis C-viremic kidney donors.

    abstract：:Direct-acting antivirals have revolutionized the treatment of hepatitis C virus (HCV) infection in patients with chronic kidney disease, with implications for the timing of antiviral treatment among kidney transplant candidates and for the use of HCV viremic donors. A recent consensus conference reviewed the available...

    journal_title：Kidney international

    pub_type： 评论,杂志文章

    doi：10.1016/j.kint.2017.09.002

    authors： Sawinski D,Wyatt CM,Locke JE

    更新日期：2017-11-01 00:00:00

  • Renal bradykinin and vasopressin receptors: ligand selectivity and classification.

    abstract：:We studied the specific binding of radiolabeled bradykinin ([3H]BK) and vasopressin ([3H]AVP) to membrane preparations of bovine and porcine kidney medulla. [3H]BK reversibly labeled a single site (Kd = 1.06 nM) in bovine kidney medulla independently of [Mg2+]. The number of BK receptors in bovine kidney medulla, Bmax...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.1996.353

    authors： Howl J,Yarwood NJ,Davies AR,Wheatley M

    更新日期：1996-08-01 00:00:00

  • Endotoxin provocation of experimental renal cystic disease.

    abstract：:Germ free rats provide a unique model in which to assess biological response to environment. In 48 germ-free male, Sprague-Dawley rats we examined the consequences of oral exposure to nordihydroguaiaretic acid (NDGA), a nephrotoxin; to Staphylococcus epidermidis and bacillus species, non-endotoxin-containing bacteria;...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.1987.213

    authors： Gardner KD Jr,Reed WP,Evan AP,Zedalis J,Hylarides MD,Leon AA

    更新日期：1987-09-01 00:00:00

  • Role of different dialysis membranes in the release of interleukin-6-soluble receptor in uremic patients.

    abstract：BACKGROUND:Interleukin-6 (IL-6) exerts its actions through a cell-surface receptor system that consists of two transmembrane subunits: the IL-6 binding glycoprotein gp 80 (IL-6R) and the signal-transducing component (gp 130). Soluble forms of the IL-6R (sIL-6R) are generated by shedding of the membrane-associated prote...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1046/j.1523-1755.2000.00181.x

    authors： Memoli B,Postiglione L,Cianciaruso B,Bisesti V,Cimmaruta C,Marzano L,Minutolo R,Cuomo V,Guida B,Andreucci M,Rossi G

    更新日期：2000-07-01 00:00:00

  • Microbiological quality and quality control of purified water and ultrapure dialysis fluids for online hemodiafiltration in routine clinical practice.

    abstract：:During online hemodiafiltration, patients are directly infused with sterile substitution solutions to maintain fluid balance. Adequate water treatment and a well-organized quality control process are essential to provide non-pyrogenic fluids with consistent optimal quality. We sought to assess water quality, the water...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.2009.245

    authors： Penne EL,Visser L,van den Dorpel MA,van der Weerd NC,Mazairac AH,van Jaarsveld BC,Koopman MG,Vos P,Feith GW,Kremer Hovinga TK,van Hamersvelt HW,Wauters IM,Bots ML,Nubé MJ,Ter Wee PM,Blankestijn PJ,Grooteman MP

    更新日期：2009-09-01 00:00:00

  • The role of mitochondria in ischemia/reperfusion injury in organ transplantation.

    abstract：:In organ transplantation, ischemia/reperfusion (I/R) results in damage that may affect cell viability and lead to organ failure. I/R injury involves a complex cascade of events, including loss of energy, derangement of the ionic hemostasis, production of reactive oxygen species, and cell death. In this context, mitoch...

    journal_title：Kidney international

    pub_type： 杂志文章,评审

    doi：10.1111/j.1523-1755.2004.761_9.x

    authors： Jassem W,Heaton ND

    更新日期：2004-08-01 00:00:00