(Q24672705)

inferred from title

familial juvenile gout

1 reference

T C Hart

1

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M C Gorry

2

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P S Hart

3

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A S Woodard

4

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Z Shihabi

5

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J Sandhu

6

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B Shirts

7

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L Xu

8

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H Zhu

9

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M M Barmada

10

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A J Bleyer

Journal of Medical Genetics

11

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language of work or name

English

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publication date

December 2002

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published in

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volume

39

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issue

12

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page(s)

882-92

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cites work

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Identification of a new locus for medullary cystic disease, on chromosome 16p12.

7 April 2017

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Uromodulin: a unique 85-kilodalton immunosuppressive glycoprotein isolated from urine of pregnant women

7 April 2017

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Tandem repeats finder: a program to analyze DNA sequences

7 April 2017

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Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies

7 April 2017

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The ZP domain is a conserved module for polymerization of extracellular proteins

7 April 2017

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Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12

7 April 2017

1 reference

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Confirmation of a gene locus for medullary cystic kidney disease (MCKD2) on chromosome 16p12

7 April 2017

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Localization of a gene for familial juvenile hyperuricemic nephropathy causing underexcretion-type gout to 16p12 by genome-wide linkage analysis of a large family

7 April 2017

1 reference

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Uromodulin (Tamm-Horsfall glycoprotein): a renal ligand for lymphokines

7 April 2017

1 reference

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Identification of human uromodulin as the Tamm-Horsfall urinary glycoprotein

7 April 2017

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

7 April 2017

1 reference

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Prediction of creatinine clearance from serum creatinine

7 April 2017

1 reference

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Characterization and separation of an inhibitor of viral hemagglutination present in urine.

7 April 2017

1 reference

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The impact of R53C mutation on the three-dimensional structure, stability, and DNA-binding properties of the human Hesx-1 homeodomain.

28 September 2017

1 reference

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Vitamin A excreted in the urine of canines is associated with a Tamm-Horsfall like protein

28 September 2017

1 reference

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Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.

28 September 2017

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Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity

28 September 2017

1 reference

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Protein misfolding and degradation in genetic diseases.

28 September 2017

1 reference

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Localization of a single binding site for immunoglobulin light chains on human Tamm-Horsfall glycoprotein

28 September 2017

1 reference

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Abnormal serum uric acid levels in children

28 September 2017

1 reference

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Gout, uric acid and purine metabolism in paediatric nephrology

28 September 2017

1 reference

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The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance

28 September 2017

1 reference

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The lectin-like interaction between recombinant tumor necrosis factor and uromodulin

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757206

Effect of diuretics on the renal handling of urate

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757206

Tamm-Horsfall glycoprotein: ultrastructural immunoperoxidase localization in rat kidney

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757206

Tamm-Horsfall protein. Abnormal localization in renal disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757206

Pathologic localization of Tamm-Horsfall protein in interstitial deposits in renal disease

28 September 2017

1 reference

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Basal transcription activity of the dyskeratosis congenita gene is mediated by Sp1 and Sp3 and a patient mutation in a Sp1 binding site is associated with decreased promoter activity

28 September 2017

1 reference

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Localization, genomic organization, and alternative transcription of a novel human SAM-dependent methyltransferase gene on chromosome 2p22-->p21.

30 May 2018

1 reference

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Tamm-Horsfall urinary glycoprotein. The subunit structure

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757206

Familial occurrence of hyperuricemia, gout, and medullary cystic disease

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757206

Tamm Horsfall glycoprotein interferes with bacterial adherence to human kidney cells.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757206

Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.

19 June 2018

1 reference

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Effects of Tamm-Horsfall protein and albumin on the inhibition of free radicals

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757206

Effects of Tamm-Horsfall protein and albumin on calcium oxalate crystallization and importance of sialic acids.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757206

Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757206

Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757206

Intrinsic Renal Disease Leading to Abnormal Urate Excretion

28 November 2018

1 reference

12 December 2020

Use of 3,5-dichloro-2-hydroxybenzenesulfonic acid/4-aminophenazone chromogenic system in direct enzymic assay of uric acid in serum and urine

1 reference

12 December 2020

Familial hyperuricemia and renal disease

1 reference

12 December 2020

Medullary cystic disease: an inherited form of autoimmune interstitial nephritis?

1 reference

12 December 2020

THE DISTRIBUTION OF SERUM URIC ACID VALUES IN A POPULATION UNSELECTED AS TO GOUT OR HYPERURICEMIA: TECUMSEH, MICHIGAN 1959-1960

1 reference

12 December 2020

Mutation in the nerve-specific 5'non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family. Mutations in brief no. 195. Online

1 reference

12 December 2020

Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease?

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.39.12.882

1 reference

1 reference

1 reference

PubMed publication ID

12471200

1 reference