Molecular genetics of familial hematuric diseases (Q38138908)

29 August 2017

Molecular genetics of familial hematuric diseases (English)

1 reference

29 August 2017

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24046192%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Konstantinos Voskarides

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24046192%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

2

Alkis Pierides

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24046192%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

language of work or name

English

0 references

publication date

17 September 2013

1 reference

Nephrology Dialysis Transplantation

29 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24046192%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

volume

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24046192%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

issue

12

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24046192%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

page(s)

2946-2960

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24046192%20AND%20SRC:MED&resulttype=core&format=json

Proposed pathogenesis of idiopathic loin pain-hematuria syndrome

13 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Loin pain hematuria syndrome-visceral or neuropathic pain syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Mutations in FN1 cause glomerulopathy with fibronectin deposits.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

21 January 2018

Collagens at a glance

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Glomerular basement membrane composition and the filtration barrier

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Estimating prevalence in single-gene kidney diseases progressing to renal failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Alport's syndrome in 78 patients: epidemiological and clinical study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

X-inactivation modifies disease severity in female carriers of murine X-linked Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Phenotype/genotype correlations in the ultrastructure of monogenetic glomerular diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Advances in Alport syndrome diagnosis using next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Glomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneys

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Prognostic value of glomerular collagen IV immunofluorescence studies in male patients with X-linked Alport syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Characterization of assembly of recombinant type IV collagen alpha3, alpha4, and alpha5 chains in transfected cell strains

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Genotype-phenotype correlation in X-linked Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Spectrum of clinical features and type IV collagen alpha-chain distribution in Chinese patients with Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Novel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruption

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

A novel Cys1638Tyr NC1 domain substitution in alpha5(IV) collagen causes Alport syndrome with late onset renal failure without hearing loss or eye abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

A comparison of the clinical, histopathologic, and ultrastructural phenotypes in carriers of X-linked and autosomal recessive Alport's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Molecular testing for adult type Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidn

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

The role of molecular genetics in diagnosing familial hematuria(s).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Common interruptions in the repeating tripeptide sequence of non-fibrillar collagens: sequence analysis and structural studies on triple-helix peptide models

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Quantitative trait loci influence renal disease progression in a mouse model of Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Characterization of a major modifier locus for polycystic kidney disease (Modpkdr1) in the Han:SPRD(cy/+) rat in a region conserved with a mouse modifier locus for Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Loss of alpha3/alpha4(IV) collagen from the glomerular basement membrane induces a strain-dependent isoform switch to alpha5alpha6(IV) collagen associated with longer renal survival in Col4a3-/- Alport mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Thin GBM nephropathy: premature glomerular obsolescence is associated with hypertension and late onset renal failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Thin basement membrane nephropathy associated with other glomerular diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

COL4A3 founder mutations in Greek-Cypriot families with thin basement membrane nephropathy and focal segmental glomerulosclerosis dating from around 18th century.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

The risks of thin basement membrane nephropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

The association of podocin R229Q polymorphism with increased albuminuria or reduced estimated GFR in a large population-based sample of US adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

NPHS2 R229Q functional variant is associated with microalbuminuria in the general population

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

C3 glomerulopathy: a new classification

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Genetic analysis of the complement factor H related 5 gene in haemolytic uraemic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Location and structure of the human FHR-5 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

C3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in Cyprus: clinical and molecular findings in 21 families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Acute presentation and persistent glomerulonephritis following streptococcal infection in a patient with heterozygous complement factor H-related protein 5 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

A hybrid CFHR3-1 gene causes familial C3 glomerulopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Epidermal growth factor: a new therapeutic target in glomerular disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

A miR-1207-5p binding site polymorphism abolishes regulation of HBEGF and is associated with disease severity in CFHR5 nephropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Role of COL4A1 in small-vessel disease and hemorrhagic stroke.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Benign familial hematuria due to mutation of the type IV collagen alpha4 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Single base mutation in α5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Eculizumab in the treatment of atypical haemolytic uraemic syndrome and other complement-mediated renal diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Genetics of kidney failure and the evolving story of APOL1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Secondary cell wall polymers of Enterococcus faecalis are critical for resistance to complement activation via mannose-binding lectin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

The genetic risk of kidney disease in type 2 diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253

Thin glomerular basement membrane disease: clinical significance of a morphological diagnosis--a collaborative study of the Italian Renal Immunopathology Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT253