Results 121 to 130 of about 2,525,206 (182)

A Novel <i>Col4a5</i>-G814fs Knock-In Mouse Model Reveals Phenotypic Heterogeneity Among Truncating <i>COL4A5</i> Mutations in X-Linked Alport Syndrome. [PDF]

Genes (Basel)
Lin Y, Sun L, Li M, Kuang X, Gong X, Cai Q, Chen Y, Xu M, Huang W, Zeng F.   +9 more
europepmc   +1 more source

Genetic heterogeneity correlated with phenotypic variability in 6 Chinese families with Alport syndrome. [PDF]

Front Genet
Gao J, Zhou H, Zhang L, Su Z, Liu S.
europepmc   +1 more source

mRNA Sequencing to Identify Aberrant Splicing in X-linked Alport Syndrome. [PDF]

Kidney Int Rep
Rao D, van den Berge BT, Vulto-van Silfhout AT, Rood IM, van Wijk JAE, Bökenkamp A, Damen L, Rump P, van der Smagt JJ, Jansen J, Smeets B, Wetzels JF, Maas RJ, van Geel M.   +13 more
europepmc   +1 more source

Clinical value of luciferase-based bioluminescence assay in diagnosis of Alport syndrome. [PDF]

Front Pediatr
Cai Y, Lin YQ, Kuang XY, Sun L, Li MY, Hu YJ, Huang WY.   +6 more
europepmc   +1 more source

Minnelide ameliorates Col4a5+/- mice by upregulating Col4a5 and alleviating endoplasmic reticulum stress. [PDF]

Front Pharmacol
Ji BW, Liu JC, Wang X, Yin Y, Zhang JJ, Wen FJ, Xu H, Shen Q, Yu J.   +8 more
europepmc   +1 more source

Systematic reassessment of reported variants in individuals with suspicion of Alport spectrum disorder reveals a high rate of ambiguous results. [PDF]

Eur J Hum Genet
Riedhammer KM, Richthammer P, Westphal DS, Ćomić J, Günthner R, Braunisch MC, Büscher AK, Klein HG, Weber S, Hoefele J.   +9 more
europepmc   +1 more source

Alport: Renaming an Extended Clinical Spectrum. [PDF]

J Am Soc Nephrol
Lennon R, Miner JH, Savige J, Weinstock BA, Gear S.   +4 more
europepmc   +1 more source

Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome. [PDF]

Nat Commun
Di H, You Z, Wang L, Sun Q, Zhang J, Lv Q, Wang P, Lai Z, Wang G, Zheng C, Gong L, Liu Z.   +11 more
europepmc   +1 more source

Familial <i>WT1</i>-associated nephropathy - 46, XY Frasier syndrome and 46, XX steroid-resistant nephrotic syndrome in female siblings: A case report and review of literature. [PDF]

World J Nephrol
Khandelwal MH, Piparva KG, Parchwani D.
europepmc   +1 more source

Hereditary Myopathy With Early Respiratory Failure Associated With an Incidental <i>COL4A5</i> Variant: A Case Report. [PDF]

Case Rep Genet
Abu Nahla U, Bleibel R, Arafeh M, Azzam SKA, Barhoum L, Ibraheem M, Altamimi M, Sultan B, Al Fallah O.   +8 more
europepmc   +1 more source