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GASTROENTEROLOGY, ISSN 0016-5085, 08/2018, Volume 155, Issue 2, pp. E15 - E16
Journal Article
Kidney International, ISSN 0085-2538, 08/2018, Volume 94, Issue 2, pp. 303 - 314
Lysyl oxidase like-2 (LOXL2) is an amine oxidase with both intracellular and extracellular functions. Extracellularly, LOXL2 promotes collagen and elastin... 
fibrosis | glomerulonephritis | lysyl oxidase | Alport syndrome
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 03/2019, Volume 40, Issue 2, pp. 129 - 134
Background: Retinal microvascular disease reflects, in part, poor blood pressure control and systemic microvascular disease contributes to renal failure... 
Hypertension | microvascular disease | Alport syndrome
Journal Article
Electronic Journal of Biomedicine, 05/2016, Volume 2, Issue 2, pp. 37 - 45
Alport syndrome diagnose is based on a combination of clinical, genetic and histopathologic data. Treatment may be based on various therapeutic measures... 
treatment | Alport syndrome | diagnosis
Journal Article
INDIAN JOURNAL OF OPHTHALMOLOGY, ISSN 0301-4738, 10/2019, Volume 67, Issue 10, pp. 1731 - 1731
Journal Article
American Journal of Physiology - Renal Physiology, ISSN 0363-6127, 08/2016, Volume 311, Issue 2, pp. F409 - F410
Journal Article
by Sun, HL and Yu, XW and Li, SM and Xu, H and Yang, J and Yi, TG and Han, PG and Shao, MM
INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY, ISSN 1936-2625, 2019, Volume 12, Issue 9, pp. 3565 - 3569
Alport syndrome (AS) is a familial hereditary nephropathy which is characterized by molecular abnormalities in Collagen IV a345. As more gene mutations are... 
ONCOLOGY | Alport syndrome | PATHOLOGY | autosomal recessive | COL4A4 mutation
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 06/2019, Volume 73, Issue 21, pp. 2719 - 2721
Journal Article
AGING-US, ISSN 1945-4589, 07/2019, Volume 11, Issue 13, pp. 4305 - 4307
Journal Article
Korean Journal of Pediatrics, ISSN 1738-1061, 05/2019, Volume 62, Issue 5, pp. 193 - 197
Journal Article
Cytogenetic and Genome Research, ISSN 1424-8581, 05/2018, Volume 154, Issue 3, pp. 132 - 136
Mutations in the COL4A5 gene result in X-linked Alport syndrome, homozygous or compound heterozygous mutations in COL4A3 or COL4A4 are responsible for... 
Digenic mutations | Autosomal dominant inheritance | COL4A4 | Alport syndrome | Benign familial hematuria | COL4A3 | Familial hematuria
Journal Article
Journal of the American Society of Nephrology, ISSN 1046-6673, 03/2018, Volume 29, Issue 3, pp. 949 - 960
Pierson syndrome is a congenital nephrotic syndrome with eye and neurologic defects caused by mutations in laminin β 2 ( LAMB2 ), a major component of the... 
laminin | glomerular basement membrane | nephrotic syndrome | Alport syndrome | Basic Research
Journal Article
PEDIATRIC NEPHROLOGY, ISSN 0931-041X, 05/2018, Volume 33, Issue 5, pp. 805 - 811
This is a report of an infant born near term with neonatal stroke and haematuria. Changes were noted on foetal magnetic resonance images, and these persisted... 
COL4A1 MUTATIONS | IV COLLAGEN | DISEASE | UROLOGY & NEPHROLOGY | PEDIATRICS | Haematuria | Hereditary nephropathy | Neonatal stroke | ALPORT-SYNDROME
Journal Article
Advances in Experimental Medicine and Biology, ISSN 0065-2598, 2018, Volume 1085, pp. 197 - 198
Patients present with X-linked inheritance; Alport syndrome occurs in approximately 1 in 50,000 newborns. The systemic features include progressive... 
Extracellular matrix | Alport syndrome | MEDICINE, RESEARCH & EXPERIMENTAL | OPHTHALMOLOGY | GENETICS & HEREDITY | CELL BIOLOGY
Journal Article
Journal Article
Kidney International, ISSN 0085-2538, 07/2019, Volume 96, Issue 1, pp. 222 - 230
End-stage renal disease (ESRD) of undetermined etiology is highly prevalent and constitutes a significant clinical challenge, particularly in the context of... 
ESRD | hereditary nephropathy | genetic analysis | renal gene panel | CKD | transplantation | ALPORT SYNDROME | PROTEIN | GUIDELINES | PHENOTYPE | FAMILY | UROLOGY & NEPHROLOGY | MUTATIONS | INHERITANCE | ASSOCIATION
Journal Article
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