Results 21 to 30 of about 23,214 (166)

Alport Syndrome: Clinical Spectrum and Therapeutic Advances

Kidney Medicine, 2023
Alport syndrome is a hereditary disorder characterized by kidney disease, ocular abnormalities, and sensorineural hearing loss. Work in understanding the cause of Alport syndrome and the molecular composition of the glomerular basement membrane ...
Vanessa De Gregorio, Emine Bilge Caparali, Azadeh Shojaei, Samantha Ricardo, Moumita Barua   +4 more
doaj   +3 more sources

A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome. [PDF]

PLoS ONE, 2015
Alport syndrome is a genetic condition that results in hematuria, progressive renal impairment, hearing loss, and occasionally lenticonus and retinopathy.
Barshagul T Baikara, Elena V Zholdybayeva, Saule E Rakhimova, Nazym B Nigmatullina, Kuvat T Momynaliev, Yerlan M Ramanculov   +5 more
doaj   +4 more sources

A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report [PDF]

Human Genome Variation, 2022
Alport syndrome is a hereditary disorder characterized by renal impairment, hearing loss, and ocular symptoms and is caused by COL4A3, COL4A4, and COL4A5 mutations.
Naonori Kumagai, Yuji Matsumoto, Tomomi Kondoh, Yohei Ikezumi   +3 more
doaj   +2 more sources

Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5. [PDF]

Nat Commun, 2020
Currently, there are no treatments for Alport syndrome, which is the second most commonly inherited kidney disease. Here we report the development of an exon-skipping therapy using an antisense-oligonucleotide (ASO) for severe male X-linked Alport ...
Yamamura T, Horinouchi T, Adachi T, Terakawa M, Takaoka Y, Omachi K, Takasato M, Takaishi K, Shoji T, Onishi Y, Kanazawa Y, Koizumi M, Tomono Y, Sugano A, Shono A, Minamikawa S, Nagano C, Sakakibara N, Ishiko S, Aoto Y, Kamura M, Harita Y, Miura K, Kanda S, Morisada N, Rossanti R, Ye MJ, Nozu Y, Matsuo M, Kai H, Iijima K, Nozu K.   +31 more
europepmc   +2 more sources

Case report: Preimplantation genetic testing for X-linked alport syndrome caused by variation in the COL4A5 gene. [PDF]

Front Pediatr, 2023
X-Linked Alport Syndrome (XLAS) is an X-linked, dominant, hereditary nephropathy mainly caused by mutations in the COL4A5 gene, found on chromosome Xq22. In this study, we reported a pedigree with XLAS caused by a COL4A5 mutation.
Liu N, Wen X, Ou Z, Fang X, Du J, Lin X.
europepmc   +2 more sources

Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece. [PDF]

Genes (Basel), 2022
Alport syndrome (AS) is the most frequent monogenic inherited glomerulopathy and is also genetically and clinically heterogeneous. It is caused by semi-dominant pathogenic variants in the X-linked COL4A5 (NM_000495.5) gene or recessive variants in the ...
Hadjipanagi D, Papagregoriou G, Koutsofti C, Polydorou C, Alivanis P, Andrikos A, Christodoulidou S, Dardamanis M, Diamantopoulos AA, Fountoglou A, Frangou E, Georgaki E, Giannikouris I, Gkinis V, Goudas PC, Kalaitzidis RG, Kaperonis N, Koutroumpas G, Makrydimas G, Myserlis G, Mitsioni A, Paliouras C, Papachristou F, Papadopoulou D, Papagalanis N, Papagianni A, Perysinaki G, Siomou E, Sombolos K, Tzanakis I, Vergoulas GV, Printza N, Deltas C.   +32 more
europepmc   +2 more sources

Uncovering Modifier Genes of X-Linked Alport Syndrome Using a Novel Multiparent Mouse Model. [PDF]

J Am Soc Nephrol, 2021
Significance Statement Kidney disease severity is partly determined by modifier genes. These genes can be important therapeutic targets but are difficult to identify in patient populations.
Takemon Y, Wright V, Davenport B, Gatti DM, Sheehan SM, Letson K, Savage HS, Lennon R, Korstanje R.   +8 more
europepmc   +2 more sources

X-linked Alport syndrome presenting in mother and son with the same unique histopathological features. [PDF]

J Nephrol
Alport syndrome has been linked to three different genes, that is, COL4A3, COL4A4 and COL4A5. It is characterized by progressive and non-specific glomerulosclerosis with irregular thickening of the glomerular basement membrane (GBM).
Bergeron NAD, Garneau AP, Rousseau-Gagnon M, Riopel J, Isenring P.   +4 more
europepmc   +2 more sources

Identification of Four Novel COL4A5 Variants and Detection of Splicing Abnormalities in Three Chinese X-Linked Alport Syndrome Families. [PDF]

Front Genet, 2022
Chronic renal disease associated with X-linked Alport syndrome (XLAS) is relatively rare. However, due to the lack of specificity in the pathologic and clinical manifestations of the disease, it is easy to be misdiagnosed.
Wang S, Shao Y, Wang Y, Lu J, Shao L.
europepmc   +2 more sources

Aberrant Splicing of COL4A5 Intronic Variant Contribute to the Pathogenesis of X-Linked Alport Syndrome: A Case Series. [PDF]

Int J Nephrol Renovasc Dis
Introduction X-linked Alport syndrome (XLAS) is caused by pathogenic variants in COL4A5 which lead to abnormalities of the glomerular basement membrane (GBM) structural and is characterized by progressive kidney disease, hearing loss, and ocular ...
Li Y, Yan X, Luo Z, Fu X, Li Z, Xu Q, Chen J, Yang J, Lu D.   +8 more
europepmc   +2 more sources