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Abbreviation : XLAS
Long Form : X-linked Alport syndrome
No. Year Title Co-occurring Abbreviation
2020 A case with somatic and germline mosaicism in COL4A5 detected by multiplex ligation-dependent probe amplification in X-linked Alport syndrome. CNV, MLPA, SNVs
2020 Comparative Functional Analysis in vitro of 2 COL4A5 Splicing Mutations at the Same Site in 2 Unrelated Alport Syndrome Chinese Families. ---
2020 Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5. ASO
2020 Endoplasmic Reticulum Stress Activation in Alport Syndrome Varies Between Genotype and Cell Type. ERS, iPSCs
2020 Generation of an induced pluripotent stem cell line (SHCDNRi001-A) from a patient with X-linked Alport syndrome carrying a heterozygous p.G409S (c. 1225 G>A) mutation in the COL4A5 gene. iPSC
2020 Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay. ---
2020 Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families. ---
2019 A family case of X-linked Alport syndrome patients with a novel variant in COL4A5. ---
2019 A review of clinical characteristics and genetic backgrounds in Alport syndrome. ADAS, ARAS, AS, ESRD
10  2019 Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay. ---
11  2019 Effect of heterozygous pathogenic COL4A3 or COL4A4 variants on patients with X-linked Alport syndrome. ---
12  2019 Germline mosaicism is a pitfall in the diagnosis of "sporadic" X-linked Alport syndrome. ---
13  2018 Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome. ---
14  2018 X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males. OAE, PTA
15  2017 Female X-linked Alport syndrome with somatic mosaicism. ---
16  2017 Generation of integration-free induced pluripotent stem cell lines derived from two patients with X-linked Alport syndrome (XLAS). iPSC
17  2017 Natural History and Genotype-Phenotype Correlation in Female X-Linked Alport Syndrome. ---
18  2016 Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome. ---
19  2016 X-Linked Alport Dogs Demonstrate Mesangial Filopodial Invasion of the Capillary Tuft as an Early Event in Glomerular Damage. GBM, MA
20  2016 X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene. GBM, IHC
21  2016 [Clinical and genetic features of X-linked Alport syndrome in men positive for the collagen Ⅳ alpha5 chain in epidermal basement membrane]. ESRD
22  2015 Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease. ESRD
23  2013 Temporal macular thinning associated with X-linked Alport syndrome. OCT
24  2013 The variable course of women with X-linked Alport Syndrome. ESRD
25  2012 A novel splice site mutation in the COL4A5 gene in a Chinese female patient with rare ocular abnormalities. RT-PCR
26  2012 Women and Alport syndrome. ESRD
27  2012 [Application of multiplex ligation-dependent probe amplification in gene diagnosis of X-linked Alport syndrome]. MLPA, RT-PCR
28  2010 Aortic abnormalities in males with Alport syndrome. AS
29  2010 Genotype-phenotype correlation in X-linked Alport syndrome. ---
30  2010 The Alport syndrome COL4A5 variant database. ---
31  2010 X-inactivation modifies disease severity in female carriers of murine X-linked Alport syndrome. Xce
32  2008 Diffuse alveolar hemorrhage following alemtuzumab. DAH
33  2007 Correlation between mRNA expression level of the mutant COL4A5 gene and phenotypes of XLAS females. AR, AS, PCR
34  2007 The alloantigenic sites of alpha3alpha4alpha5(IV) collagen: pathogenic X-linked alport alloantibodies target two accessible conformational epitopes in the alpha5NC1 domain. GBM
35  2006 Gene expression analysis in a canine model of X-linked Alport syndrome. CKD, MHC
36  2004 Detection of COL4A5 gene mutations in Chinese patients with Alport's syndrome. PCR
37  2004 Effect of glycine substitutions on alpha5(IV) chain structure and structure-phenotype correlations in Alport syndrome. CD
38  2004 Mouse model of X-linked Alport syndrome. ---
39  2004 [Detection of a novel mutation in COL4A5 gene from a Chinese family with X-linked alport syndrome]. ---
40  2003 Genetic cause of X-linked Alport syndrome in a family of domestic dogs. GBM
41  2003 Increased expression of MMP-2, MMP-9 (type IV collagenases/gelatinases), and MT1-MMP in canine X-linked Alport syndrome (XLAS). MMPs, MT1-MMP, RT-PCR
42  1999 Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. ARAS, AS
43  1998 Expression of mRNA for type IV collagen alpha1, alpha5 and alpha6 chains by cultured dermal fibroblasts from patients with X-linked Alport syndrome. ---