Results 121 to 130 of about 5,335 (170)

Splice modulation of COL4A5 reinstates collagen IV assembly in an organoid model of Alport syndrome. [PDF]

JCI Insight
Saei H, Estebe B, Goudin N, Esmailpour M, Haure J, Gribouval O, Arrondel C, Moriniere V, Tian P, Lennon R, Antignac C, Mollet G, Dorval G.   +12 more
europepmc   +1 more source

Efficacy of Nrf2 activation in a proteinuric Alport syndrome mouse model. [PDF]

Life Sci Alliance
Kaseda S, Horizono J, Sannomiya Y, Kuwazuru J, Suico MA, Sato R, Fukiya H, Sunamoto H, Ogi S, Matsushita T, Koyama Y, Owaki A, Tsuhako H, Shiraga M, Watanabe H, Nakano T, Davenport B, Nozu K, Yamamoto M, Shuto T, Tokunaga Y, Lennon R, Onuma K, Kai H.   +23 more
europepmc   +1 more source

Novel COL4A3-COL4A5 variants and digenic inheritance in pediatric Alport syndrome from Southwestern China. [PDF]

Sci Rep
Chen JY, Jiang XM, Liao YB, Zhang YH, Yang MF, Cui JJ, Wang J, Zhang J, Wang HY, Zhao B.   +9 more
europepmc   +1 more source

A rare case of dual glomerular pathology: Alport syndrome and immune complex-mediated MPGN. [PDF]

BMC Nephrol
Ozcan SG, Koc E, Murt A, Dincer MT, Gurses I, Seyahi N, Trabulus S.   +6 more
europepmc   +1 more source

Dapagliflozin Reduces Kidney Inflammation in Alport Syndrome by Inhibiting the Stimulator of IFN Genes Pathway in Renal Tubular Epithelial Cells. [PDF]

Kidney360
Zheng Q, Zhao Y, Jin Y, Yu S, Liu Y, Yu H, Fang Z, Yang L, Weng Q, Xu J, Pan X, Gu X, Xie J.   +12 more
europepmc   +1 more source

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Alport's Syndrome

Archives of Otolaryngology - Head and Neck Surgery, 1970
Five patients representing four kindreds of Alport's syndrome (approximately 5% of the reported world literature) are presented with emphasis on the audiological, electronystagmographic, and temporal bone findings. This syndrome is characterized by the two basic hereditary defects of sensorineural hearing loss and nephritis.
G W, Miller, D J, Joseph, R L, Cozad, B F, McCabe   +3 more
openaire   +2 more sources

Alport's syndrome and achalasia

Pediatric Nephrology, 1988
A 7-year-old boy presented with a history of postprandial vomiting, failure to thrive, hematuria, proteinuria and decreased renal function. Electron microscopy of a renal biopsy specimen demonstrated the typical glomerular basement membrane changes associated with Alport's syndrome.
H E, Leichter, J, Vargas, A H, Cohen, M, Ament, I B, Salusky   +4 more
openaire   +2 more sources

Variants of Alport's syndrome

Pediatric Nephrology, 1987
Variants of Alport's syndrome include mainly those associated with hereditary macrothrombocytopenia (and occasionally leukocyte inclusions) or with esophageal, tracheobronchial and genital leiomyomatosis. Within Alport's syndrome there appears to be no justification for differentiating those with nephritis and deafness from those with nephritis alone ...
J P, Grünfeld, G, Grateau, L H, Noel, R, Charbonneau, M C, Gubler, C O, Savage, C M, Lockwood   +6 more
openaire   +2 more sources

Alport Syndrome and Pregnancy

Obstetrics & Gynecology, 2007
Alport syndrome is a disorder associated with mutations in the type IV collagen gene and manifested by progressive glomerulonephritis. Little is known about the effect of Alport syndrome on pregnancy outcome.We report a patient with Alport syndrome whose pregnancy was complicated by rapidly progressive severe preeclampsia, fetal growth restriction, and
Koji, Matsuo, Erika L, Tudor, Ahmet A, Baschat   +2 more
openaire   +2 more sources

A CASE OF ALPORT'S SYNDROME

Acta Pathologica Japonica, 1974
A 19‐year‐old female belonging to a family of Alport's syndrome was autopsied and her kidneys were examined in detail light and electron microscopically. The basement membrane was examined chiefly and the laminated thickening and/or splitting, looseness, irregularity and rail‐like appearance of lamina densa were found in the glomerular, Bowman's ...
I, Nishimori, N, Moriyama, N, Tsuda, A, Shimomura   +3 more
openaire   +2 more sources