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Journal Article
International Journal of Molecular Medicine, ISSN 1107-3756, 09/2016, Volume 38, Issue 3, pp. 823 - 833
Journal Article
Clinical Genetics, ISSN 0009-9163, 11/2017, Volume 92, Issue 5, pp. 517 - 527
Journal Article
Clinical Kidney Journal, ISSN 2048-8505, 2014, Volume 7, Issue 2, pp. 197 - 200
Alport syndrome (AS) is a familial glomerular disorder resulting from mutations in the genes encoding several members of the type IV collagen protein family.... 
molecular genetics | haematuria | COL4A5 | Alport syndrome | COL4A3 | Clinical Cases
Journal Article
KIDNEY INTERNATIONAL, ISSN 0085-2538, 05/2014, Volume 85, Issue 5, pp. 1208 - 1213
X-linked Alport syndrome is caused by mutations in the COL4A5 gene encoding the type IV collagen alpha 5 chain (alpha 5(IV)). Complete absence of alpha 5(IV)... 
COL4A5 GENE MUTATION | WOMEN | GLOMERULAR-BASEMENT-MEMBRANE | GENOTYPE-PHENOTYPE CORRELATIONS | 195 FAMILIES | DISEASE | UROLOGY & NEPHROLOGY | NATURAL-HISTORY | FILTRATION RATE | DEFINED MONOCLONAL-ANTIBODIES | PCR
Journal Article
Medicine, ISSN 0025-7974, 07/2018, Volume 97, Issue 30, pp. e11538 - e11538
Introduction:Fibromuscular dysplasia (FMD) is a rare and controversial disease that is seldom associated with genes. Here, we report the discovery of 2... 
DIAGNOSIS | MEDICINE, GENERAL & INTERNAL | SMOOTH-MUSCLE | cerebrovascular | COL4A6 | COL4A5 | ALPORTS-SYNDROME | fibromuscular dysplasia | CERVICAL-ARTERY DISSECTIONS | Index Medicus | Abridged Index Medicus
Journal Article
Chinese Journal of Medical Genetics, ISSN 1003-9406, 06/2017, Volume 34, Issue 3, pp. 373 - 376
Journal Article
Clinical Genetics, ISSN 0009-9163, 11/2015, Volume 88, Issue 5, pp. 462 - 467
Journal Article
Nephrology Dialysis Transplantation, ISSN 0931-0509, 5/2007, Volume 22, Issue 5, pp. 1338 - 1346
Background. Mutations in the type IV collagen gene, COL4A5, are associated with Alport syndrome, characterized by ultrastructural abnormalities of the... 
COL4A5 | Mutation analysis | Mild phenotype | Alport syndrome
Journal Article
by Tang, XF and Ding, QL and Xu, D and Yang, ST and Xiao, YF and Liu, J
BMC NEPHROLOGY, ISSN 1471-2369, 07/2019, Volume 20, Issue 1, pp. 277 - 277
BackgroundAlport syndrome is a rare genetic kidney disease, and rheumatoid arthritis as a common autoimmune disease also causes renal lesions in addition to... 
type IV collagen | UROLOGY & NEPHROLOGY | COL4A5 | rheumatoid arthritis | microhematuria | Alport syndrome | Rheumatoid factor | Arthritis | Leflunomide | Kidney diseases | Analysis | Collagen | Index Medicus
Journal Article
Pediatric Nephrology, ISSN 0931-041X, 2018, pp. 1 - 8
The diagnosis of Alport syndrome is suspected when an individual has haematuria or renal failure, together with a hearing loss; haematuria or renal failure,... 
COL4A5 mutations | Next-generation sequencing | Pedigree analysis | Alport syndrome | Glomerular basement membrane | Genetic testing | Thin basement membrane nephropathy | Lenticonus | Retinopathy | Renal failure | Collagen (type IV) | Heredity | Diagnosis | Mutation | Genetic screening | Hearing loss
Journal Article
by Zhang, P and Zhuo, L and Zou, YR and Li, GS and Peng, K
CLINICAL NEPHROLOGY, ISSN 0301-0430, 08/2019, Volume 92, Issue 2, pp. 98 - 102
COL4A5 gene mutations are known as the cause of Alport syndrome (AS), which typically manifests with hematuria, progressive renal failure, sensorineural... 
mutation | WOMEN | GENOTYPE-PHENOTYPE CORRELATIONS | COL4A5 gene | 195 FAMILIES | Alport syndrome | DISEASE | UROLOGY & NEPHROLOGY | focal segmental glomerulosclerosis | NATURAL-HISTORY | nephrotic syndrome
Journal Article
Journal of the American Society of Nephrology, ISSN 1046-6673, 05/2010, Volume 21, Issue 5, pp. 876 - 883
Journal Article
by Li, YZ and He, QN and Wang, YR and Wang, Y and Dang, XQ and Wu, XC and Li, XY and Shuai, LJ and Yi, ZW
INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY, ISSN 1936-2625, 2018, Volume 11, Issue 9, pp. 4657 - 4657
Backgrounds and Objectives: alport syndrome (AS) is a progressive hereditary condition that is characterized by haematuria, proteinuria, progressive renal... 
DIAGNOSIS | GLOMERULAR-BASEMENT-MEMBRANE | MANAGEMENT | haematuria | PATHOLOGY | NEPHROPATHY | IMPACT | INHIBITION | DISEASES | ONCOLOGY | Alport syndrome | RENAL-FAILURE | COL4A5 | HEMATURIA | child
Journal Article
Scientific Reports, ISSN 2045-2322, 10/2016, Volume 6, Issue 1, pp. 35068 - 35068
Glomeruli are highly sophisticated filters and glomerular disease is the leading cause of kidney failure. Morphological change in glomerular podocytes and the... 
RECESSIVE ALPORT-SYNDROME | GLOMERULOSCLEROSIS | MATRIX | MULTIDISCIPLINARY SCIENCES | IV COLLAGEN | DISEASE | COL4A5 COLLAGEN GENE | MYO1E MUTATIONS | IDENTIFICATION | CELL | BASEMENT-MEMBRANE | Scanning electron microscopy | Animal models | Filters | Disease | Etiology | Rodents | Classification | Alport syndrome | Renal failure | Extracellular matrix | Electron microscopy | Feet | Index Medicus
Journal Article
Nephrologie et Therapeutique, ISSN 1769-7255, 12/2016, Volume 12, Issue 7, pp. 544 - 551
Alport syndrome is an inherited disorder characterized by the association of a progressive haematuric nephropathy with ultrastructural abnormalities of the... 
Collagen IV | Macrothrombocytopathy | COL4A4 | Alport syndrome | COL4A3 | Diffuse oesophageal leiomyomatosis | COL4A6 | COL4A5 | Glomerular basement membrane
Journal Article
Nephron, ISSN 1660-8151, 10/2018, Volume 140, Issue 3, pp. 203 - 210
Background: Alport syndrome is a rare inheritable kidney disease frequently leading to end-stage kidney disease in young adults. Patients could benefit from... 
Clinical Practice: Original Paper | Kidney disease | COL4A5 | Pediatric nephrology | Genetic diseases | Alport syndrome | KIDNEY-DISEASE | GENOTYPE-PHENOTYPE CORRELATIONS | NATURAL-HISTORY | CHILDREN | 195 FAMILIES | BASEMENT-MEMBRANE NEPHROPATHY | RENAL-FAILURE | UROLOGY & NEPHROLOGY | MUTATIONS | FOCAL SEGMENTAL GLOMERULOSCLEROSIS | RAAS BLOCKADE
Journal Article