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Update in podocyte biology
CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION
Do matrix metalloproteinases MMP-2 and MMP-9 (gelatinases) play a role in renal development, physiology and glomerular diseases?
CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION
Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome
NATURE GENETICS
Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome
HUMAN MUTATION
Adenovirus-mediated transfer of type IV collagen alpha 5 chain cDNA into swine kidney in vivo: deposition of the protein into the glomerular basementmembrane
GENE THERAPY
Gastrointestinal stromal tumors - definition, clinical, histological, immunohistochemical, and molecular genetic features and differential diagnosis
VIRCHOWS ARCHIV-AN INTERNATIONAL JOURNAL OF PATHOLOGY
Renal diagnosis without renal biopsy. Nephritis and sensorineural deafness
NEPHROLOGY DIALYSIS TRANSPLANTATION
Distribution of alpha-chains of type IV collagen in glomerular basement membranes with ultrastructural alterations suggestive of Alport syndrome
NEPHROLOGY DIALYSIS TRANSPLANTATION
How well do we manage and support patients and families with dominantly inherited renal disease?
NEPHROLOGY DIALYSIS TRANSPLANTATION
Benign familial hematuria associated with a novel COL4A4 mutation
PEDIATRIC NEPHROLOGY
Two novel alternatively spliced 9-bp exons in the COL4A5 gene
PEDIATRIC NEPHROLOGY
Ultrastructural and physiological defects in the cochlea of the Mpv17 mouse strain - A comparison between young and old adult animals
HEARING RESEARCH
Pathogenesis and clinic of hereditary nephropathies
ACTA MEDICA AUSTRIACA
A comparison of the clinical, histopathologic, and ultrastructural phenotypes in carriers of X-linked and autosomal recessive Alport's syndrome
AMERICAN JOURNAL OF KIDNEY DISEASES
Alport disease: A review of the diagnostic difficulties
ULTRASTRUCTURAL PATHOLOGY
Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP
AMERICAN JOURNAL OF MEDICAL GENETICS
Glomerular endothelial cells and podocytes jointly synthesize laminin-1 and-11
KIDNEY INTERNATIONAL
Thin glomerular basement membrane disease
KIDNEY INTERNATIONAL
Down-regulation of MT1-MMP expression by the alpha 3 chain of type IV collagen inhibits bronchial tumor cell line invasion
LABORATORY INVESTIGATION
Leiomyoma at the site of esophageal atresia repair
JOURNAL OF PEDIATRIC SURGERY
Global gene expression analysis reveals a role for the alpha(1) integrin in renal pathogenesis
JOURNAL OF BIOLOGICAL CHEMISTRY
The NCI domain of collagen IV encodes a novel network composed of the alpha 1, alpha 2, alpha 5, and alpha 6 chains in smooth muscle basement membranes
JOURNAL OF BIOLOGICAL CHEMISTRY
Regulation of the paired type IV collagen genes COL4A5 and COL4A6 Role of the proximal promoter region
JOURNAL OF BIOLOGICAL CHEMISTRY
Ultrastructural fragility and type IV collagen abnormality of the anteriorlens capsules in a patient with Alport syndrome
JAPANESE JOURNAL OF OPHTHALMOLOGY
Diffuse esophageal leiomyomatosis with perirectal involvement mimicking Hirschsprung disease
GASTROENTEROLOGY
Approach to the diagnosis of thin basement membrane nephropathy in femaleswith the use of antibodies to type IV collagen
ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE
Mutation analysis of the entire PKD1 gene: Genetic and diagnostic implications
AMERICAN JOURNAL OF HUMAN GENETICS
Abnormal distribution of collagen type IV in extrahepatic bile duct carcinoma
PATHOLOGY INTERNATIONAL
Thin glomerular basement membrane disease
JOURNAL OF NEPHROLOGY
Diffuse esophageal leiomyomatosis: another cause of pseudoachalasia
DISEASES OF THE ESOPHAGUS
Diagnosis and management of diffuse leiomyomatosis of the oesophagus
DISEASES OF THE ESOPHAGUS
A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints
HUMAN MUTATION
Animal models of Alport syndrome: Advancing the prospects for effective human gene therapy
EXPERIMENTAL NEPHROLOGY
Glomerular filtration is required for transfection of proximal tubular cells in the rat kidney following injection of DNA complexes into the renal artery
GENE THERAPY
Imaging of diffuse esophageal leiomyomatosis: two case reports and review of the literature
EUROPEAN RADIOLOGY
Renal cortical nephrocalcinosis
NEPHROLOGY DIALYSIS TRANSPLANTATION
Ocular clues to the nature of disease causing end-stage renal failure
NEPHROLOGY DIALYSIS TRANSPLANTATION
The child with haematuria and dysphagia
NEPHROLOGY DIALYSIS TRANSPLANTATION
alpha 5 COLIV chain distribution in glomerular basement membrane in a malewith X-linked Alport syndrome and thin basement membrane
PEDIATRIC NEPHROLOGY
Sporadic case of X-chromosomal Alport syndrome in a consanguineous family
PEDIATRIC NEPHROLOGY
A novel G472R mutation in is Turkish family with X-linked Alport syndrome
PEDIATRIC NEPHROLOGY
Alport syndromes: phenotypic heterogeneity of progressive hereditary nephritis
PEDIATRIC NEPHROLOGY
Mutational analysis of COL4A5 gene in Korean Alport syndrome
PEDIATRIC NEPHROLOGY
Alport-like glomerular changes in a patient with nephrotic syndrome: report of a case
PEDIATRIC NEPHROLOGY
Retinal flecks in Alport's syndrome
ARCHIVES DE PEDIATRIE
Effects of renal transplantation on hearing and ocular changes in a monozygotic twin with Alport's syndrome: Comparison with other twin on hemodialysis
CROATIAN MEDICAL JOURNAL
Enalapril in paediatric patients with Alport syndrome: 2 years' experience
EUROPEAN JOURNAL OF PEDIATRICS
Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3
CYTOGENETICS AND CELL GENETICS
Ultrastructural appearance of renal and other basement membranes in the bull terrier model of autosomal dominant hereditary nephritis
AMERICAN JOURNAL OF KIDNEY DISEASES
Thin basement membrane disease with heavy proteinuria or nephrotic syndrome at presentation
AMERICAN JOURNAL OF KIDNEY DISEASES
Diffuse leiomyomatosis of the esophagus
DIGESTIVE SURGERY
Esophageal leiomyomatosis in a woman with a history of vulvar leiomyoma and Barrett's esophagus - A case report and review of the literature
DIGESTIVE SURGERY
Alport syndrome and diffuse leiomyomatosis. Clinical aspects, pathology, molecular biology and extracellular matrix studies. A synthesis
NEPHROLOGIE
Cochlear deafness in a Chinese family with Fechtner's syndrome
AMERICAN JOURNAL OF OTOLOGY
Cracking the auditory genetic code: Part II. Syndromic hereditary hearing impairment
AMERICAN JOURNAL OF OTOLOGY
Ruptured intracranial aneurysm in an adolescent with Alport's syndrome - Anew expression of type IV collagenopathy: Case report
SURGICAL NEUROLOGY
Estimating prevalence in single-gene kidney diseases progressing to renal failure
KIDNEY INTERNATIONAL
A pregnancy complicated with Fechtner syndrome: A case report
TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE
Bilateral serous retinal detachment associated with Alport's syndrome
OPHTHALMOLOGICA
Macular dystrophy in association with Alport's syndrome
KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE
Characterisation and genetic mapping of a new X linked deafness syndrome
JOURNAL OF MEDICAL GENETICS
The goodpasture autoantigen - Identification of multiple cryptic epitopes on the NC1 domain of the alpha 3(IV) collagen chain
JOURNAL OF BIOLOGICAL CHEMISTRY
Type IV collagen of the glomerular basement membrane - Evidence that the chain specificity of network assembly is encoded by the noncollagenous NC1 domains
JOURNAL OF BIOLOGICAL CHEMISTRY
Distinct antitumor properties of a type IV collagen domain derived from basement membrane
JOURNAL OF BIOLOGICAL CHEMISTRY
Reactive oxygen species expose cryptic epitopes associated with autoimmunegoodpasture syndrome
JOURNAL OF BIOLOGICAL CHEMISTRY
The alpha 5 chain of type IV collagen is the target of IgG autoantibodies in a novel autoimmune disease with subepidermal blisters and renal insufficiency
JOURNAL OF BIOLOGICAL CHEMISTRY
Assembly of type IV collagen - Insights from alpha 3(IV) collagen-deficient mice
JOURNAL OF BIOLOGICAL CHEMISTRY
New functions for non-collagenous domains of human collagen type IV - Novel integrin ligands inhibiting angiogenesis and tumor growth in vivo
JOURNAL OF BIOLOGICAL CHEMISTRY
Differential expression of mouse alpha 5(IV) and alpha 6(IV) collagen genes in epithelial basement membranes
JOURNAL OF BIOCHEMISTRY
Defective glomerulogenesis in the absence of laminin alpha 5 demonstrates a developmental role for the kidney glomerular basement membrane
DEVELOPMENTAL BIOLOGY
Familial glomerulonephropathy in a litter of Beagles
JOURNAL OF THE AMERICAN VETERINARY MEDICAL ASSOCIATION
Expression of the alpha 6 chain of type IV collagen in glomerular basementmembranes of healthy adult dogs
AMERICAN JOURNAL OF VETERINARY RESEARCH
Molecular genetics of Usher syndrome
CELLULAR AND MOLECULAR LIFE SCIENCES
Basement membranes in development
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
Genomics and hearing impairment
GENOME RESEARCH
New insights into familial microhematuria
CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION
Detection of mutations in COL4A5 in patients with Alport syndrome
HUMAN MUTATION
Glomerular permeability - I. Ferritin transfer across the normal glomerular capillary wall - Guest commentary
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
Autosomal recessive Alport syndrome: linkage analysis and clinical features in two families
NEPHROLOGY DIALYSIS TRANSPLANTATION
End-stage renal disease in two pediatric patients with Fechtner syndrome
PEDIATRIC NEPHROLOGY
Hereditary glomerulopathy associated with a mitochondrial tRNA(Leu) gene mutation
PEDIATRIC NEPHROLOGY
KCNE1-like gene is deleted in AMME contiguous gene syndrome: Identification and characterization of the human and mouse homologs
GENOMICS
Genetic testing of hearing loss disorders
MOLECULAR MEDICINE: NOVEL FINDINGS OF GENE DIAGNOSIS, REGULATION OF GENE EXPRESSION, AND GENE THERAPY
Gene transfer in the kidney
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY
A novel surgical organ perfusion method for effective ex vivo and in vivo gene transfer into renal glomerular cells
UROLOGICAL RESEARCH
Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing
AMERICAN JOURNAL OF KIDNEY DISEASES
Glomerular disease
SEMINARS IN NEPHROLOGY
Chain composition of type IV collagen networks in basement membranes
PROCEEDINGS OF THE INDIAN ACADEMY OF SCIENCES-CHEMICAL SCIENCES
Evidence for genetic heterogeneity in benign familial hematuria
AMERICAN JOURNAL OF NEPHROLOGY
A dup(17)(p11.2p11.2) detected by fluorescence in situ hybridization in a boy with Alport syndrome
AMERICAN JOURNAL OF MEDICAL GENETICS
Renal basement membrane components
KIDNEY INTERNATIONAL
Role for transforming growth factor-beta 1 in Alport renal disease progression
KIDNEY INTERNATIONAL
Clinicopathological characteristics of interstitial foam cells in membranous nephropathy
KIDNEY INTERNATIONAL
Goodpasture antigen: Expression of the full-length alpha 3(IV) chain of collagen IV and localization of epitopes exclusively to the noncollagenous domain
KIDNEY INTERNATIONAL
Autosomal dominant polycystic kidney disease associated with familial sensorineural deafness
SCANDINAVIAN JOURNAL OF UROLOGY AND NEPHROLOGY
Ultrastructure of the lens epithelium in Alport's syndrome
OPHTHALMOLOGICA
Anti glomerular basement membrane disease in a renal transplant patient with Alport syndrome
MEDICINA-BUENOS AIRES
Differential expression of collagen type IV alpha-chains in the tubulointerstitial compartment in experimental chronic serum sickness nephritis
JOURNAL OF PATHOLOGY
Cell adhesion molecules and extracellular-matrix constituents in kidney development and disease
JOURNAL OF CELL SCIENCE
New form of X-linked dominant hereditary nephritis in dogs
AMERICAN JOURNAL OF VETERINARY RESEARCH