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

Heterozygous X-linked Alport syndrome in a pregnant woman: A case report.

The Inheritance Puzzle: A Case of Dual Genetic Kidney Disease.

Hereditary Myopathy With Early Respiratory Failure Associated With an Incidental COL4A5 Variant: A Case Report.

mRNA Therapy for Alport Syndrome.

Whole-genome sequencing identified a deep intronic COL4A5 variant causing aberrant splicing in a female patient with X-linked Alport syndrome.

Anticodon-edited tRNA enables translational readthrough of COL4A5 premature termination codons.

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

Investigation of clinical and genetic characteristics of Alport syndrome using a national registry in Japan (JP-ALPS).

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

Case Report: Whole genome sequencing identifies a novel deep intronic COL4A5 variant of uncertain significance in X-linked Alport syndrome.

Unveiling Maternal Germline Mosaicism in X-Linked Alport Syndrome by Advanced Genetic Testing.

A Prediction Model of Disease Progression in X-Linked Alport syndrome Based on Clinical Characteristics and Genetic Variants.

A comprehensive splicing characterization of COL4A5 mutations and prognostic significance in a single cohort with X-linked alport syndrome.

A retrospective study of kidney disease in Alport syndrome during and after pregnancy.

A novel mouse model for X-linked Alport syndrome induced by splicing mutation in the Col4a5 gene.

[New Genetic Variants Involved in the Pathogenesis of Autosomal Dominant Alport Syndrome: A Familial Case Report].

Clinical differences between female monozygotic twins with X-linked Alport syndrome with somatic mosaicism.

Increased HA/CD44/TGFβ signaling implicates in renal fibrosis of a Col4a5 mutant Alport mice.

Corneal endothelial neovascularization and glaucoma in X-linked Alport syndrome.

Genotype-Based Molecular Mechanisms in Alport Syndrome.

Alport syndrome: an update.

Genotype-First Analysis in an Unselected Health System-Based Population and Phenotypic Severity of COL4A5 Variants.

Natural History of Auditory Function in Patients with Alport Syndrome: A Case Series Study.

Renal transplantation in Alport syndrome.

A Novel Deep Learning Approach for Analyzing Glomerular Basement Membrane Lesions in a Mouse Model of X-Linked Alport Syndrome.

Analyzing three pedigrees in X-linked Alport syndrome with the presentation of nephrotic syndrome.

Genotype and X-chromosome inactivation are associated with disease severity in females with X-linked Alport syndrome.

Establishment of an induced pluripotent stem cell line from a patient with X-linked Alport syndrome carrying a hemizygous splicing variant (NM_033380; c.929[exon 16]delG) in the collagen type IV alpha 5 chain gene.

Genotype-first analysis in an unselected health system-based population reveals variable phenotypic severity of COL4A5 variants.

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

An unusual case of nephrotic syndrome.

Staircase Lamellar Macular Hole in a Male Patient Aged 54 Years.

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

Trimerization profile of type IV collagen COL4A5 exon deletion in X-linked Alport syndrome.

Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay.

[A case of X-linked Alport syndrome with esophageal leiomyomatosis].

Genetic, Clinical, and Pathologic Backgrounds of Children With X-Linked Alport Syndrome in China: A Monocenter Study.

Novel Digenic Variants in COL4A4 and COL4A5 Causing X-Linked Alport Syndrome: A Case Report.

High-flow arteriovenous fistula in X-linked Alport syndrome: a case report.

Sporadic Case of Heterozygous X-Linked Alport Syndrome.

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

A comparison of the ocular features in Pierson and Alport syndrome: a case report and literature review.

X-linked Alport Syndrome with Type IV Collagen α5 Chain Staining Revealing Normal Expression in the Glomerular Basement Membrane and Negative on Bowman's Capsule and Distal Tubular Basement Membrane: A Case Report.

The outcomes of renin-angiotensin-aldosterone system inhibition and immunosuppressive therapy in children with X-linked Alport syndrome.

A wave of deep intronic mutations in X-linked Alport syndrome.

Genetic features and kidney morphological changes in women with X-linked Alport syndrome.

Electroretinographic abnormalities in Alport syndrome with a novel COL4A5 truncated variant (p.Try20GlyfsTer19).

Alport Syndrome: Clinical Spectrum and Therapeutic Advances.

Genotype-phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea.

Clinical, histological and molecular characteristics of Alport syndrome in Chinese children.

A mouse model for X-linked Alport syndrome induced by Del-ATGG in the Col4a5 gene.

Hydroxychloroquine Ameliorates Hematuria in Children with X-Linked Alport Syndrome: Retrospective Case Series Study.

Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism.

A deep intronic splice variant of the COL4A5 gene in a Chinese family with X-linked Alport syndrome.

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

Bullous Pemphigoid in X-linked Alport Syndrome.

A Systematic Review of Pathogenic COL4A5 Variants and Proteinuria in Women and Girls With X-linked Alport Syndrome.

Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene.

Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age.

A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report.

Temporal retinal thinning might be an early diagnostic indicator in male pediatric X-linked Alport syndrome.

Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome.

Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome.

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

Detection of Very Low-Level Somatic Mosaic COL4A5 Splicing Variant in Asymptomatic Female Using Droplet Digital PCR.

Refractory focal segmental glomerulosclerosis caused by Alport syndrome detected by genetic testing after three decades.

The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport Syndrome.

Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.

Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing.

Preimplantation Genetic Testing Prevented Intergenerational Transmission of X-Linked Alport Syndrome.

Modelling X-linked Alport Syndrome With Induced Pluripotent Stem Cell-Derived Podocytes.

Clinical Manifestations of Alport Syndrome-Diffuse Leiomyomatosis Patients With Contiguous Gene Deletions in COL4A6 and COL4A5.

Publisher Correction: Creation of X-linked Alport syndrome rat model with Col4a5 deficiency.

Functional assessment of a novel COL4A5 splicing site variant in a Chinese X-linked Alport syndrome family.

Creation of X-linked Alport syndrome rat model with Col4a5 deficiency.

Effect of disease progression on the podocyte cell cycle in Alport Syndrome.

Determination of the pathogenicity of a novel COL4A5 missense variant by CRISPR-Cas9 in kidney podocytes.

Family History is Important to Identify Patients with Monogenic Causes of Adult-Onset Chronic Kidney Disease.

THE SPECTRUM OF INTERNAL LIMITING MEMBRANE DISEASE IN ALPORT SYNDROME: A Multimodal Imaging Study.

Generation of a COL4A5 heterozygous mutation human embryonic stem cell line (WAe009-A-58) using an episomal vector-based CRISPR/Cas9 system.

Generation of an iPSC line (GWCMCi002-A) from an X-linked Alport syndrome patient with a hemizygous splicing mutation (NM_000495.4, c. 1517-1 G > T) in the COL4A5 gene.

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

Mother-Son Kidney Transplantation in Patients With X-Linked Alport Syndrome.

Generation of two induced pluripotent stem cell lines from patients with X-linked Alport syndrome.

Novel Mutations of COL4A5 Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review.

Population-based studies reveal an additive role of type IV collagen variants in hematuria and albuminuria.

Case Report: Preimplantation Genetic Testing and Pregnancy Outcomes in Women With Alport Syndrome.

Complex Phenotypic Presentation of Syndromic Hearing Loss Deciphered as Three Separate Clinical Entities: How Genetic Testing Guides Final Diagnosis.

X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases.

Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife.

Genetic background, recent advances in molecular biology, and development of novel therapy in Alport syndrome.

A novel missense mutation of COL4A5 gene alter collagen IV α5 chain to cause X-linked Alport syndrome in a Chinese family.

Generation of an urine-derived induced pluripotent stem cell line from a 5-year old X-linked Alport syndrome (X-LAS) patient.

Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults-an update for 2020.

Bidirectional, non-necrotizing glomerular crescents are the critical pathology in X-linked Alport syndrome mouse model harboring nonsense mutation of human COL4A5.

[Clinical phenotype of Alport syndrome in monozygotic twins].

New-onset Psychosis in an Immunosuppressed Patient With Kidney Transplantation: An Educational Case Report.

Low frequency of parental mosaicism in de novo COL4A5 mutations in X-linked Alport syndrome.

Glomerular Basement Membrane Protein Expression and the Diagnosis and Prognosis of Autosomal Dominant Alport Syndrome.

Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome.

Comparative Functional Analysis in vitro of 2 COL4A5 Splicing Mutations at the Same Site in 2 Unrelated Alport Syndrome Chinese Families.

A case with somatic and germline mosaicism in COL4A5 detected by multiplex ligation-dependent probe amplification in X-linked Alport syndrome.

Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X-linked Alport syndrome.

Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay.

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

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.

Femtosecond laser-assisted cataract surgery for bilateral anterior lenticonus.

The First COL4A5 Exon 41A Glycine Substitution in a Family With Alport Syndrome.

Corneal endothelial cell abnormalities in X-linked Alport syndrome.

Endoplasmic Reticulum Stress Activation in Alport Syndrome Varies Between Genotype and Cell Type.

X-linked Alport syndrome with "empty capsule sign".

Detection of Cryptic Mosaicism in X-linked Alport Syndrome Prompts to Re-evaluate Living-donor Kidney Transplantation.

The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome.

Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families.

A COL4A5 Missense Variant in a Han-Chinese Family with X-linked Alport Syndrome.

Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay.

[Alport syndrome. Report of two cases].

Somatic Mosaicism in a Male Patient With X-linked Alport Syndrome.

De novo X-linked Alport syndrome in a 3-year-old girl.

Identification of a novel COL4A5 mutation in the proband initially diagnosed as IgAN from a Chinese family with X-linked Alport syndrome.

Novel mutations in patients with X-linked Alport syndrome: Two case reports.

Increased microvascular disease in X-linked and autosomal recessive Alport syndrome: a case control cross sectional observational study.

A triad of retinal signs in Alport syndrome: The 'stair-case' fovea, choroidal thinning and peripheral schisis.

Effect of heterozygous pathogenic COL4A3 or COL4A4 variants on patients with X-linked Alport syndrome.

Establishment of X-linked Alport syndrome model mice with a Col4a5 R471X mutation.

X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males.

A family case of X-linked Alport syndrome patients with a novel variant in COL4A5.

[X-linked Alport syndrome: auditory pathogenic variant features and further genotype-phenotype correlations in female patients].

Temporal Bone Histopathology of X-linked Inherited Alport Syndrome.

Novel deletion mutation in a Chinese family with X-linked alport syndrome.

A review of clinical characteristics and genetic backgrounds in Alport syndrome.

Germline mosaicism is a pitfall in the diagnosis of "sporadic" X-linked Alport syndrome.

Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome.

Speech, language, and hearing function in twins with Alport syndrome: A seven-year retrospective case report.

COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

The COL4A3 and COL4A4 Digenic Mutations in cis Result in Benign Familial Hematuria in a Large Chinese Family.

Natural History and Genotype-Phenotype Correlation in Female X-Linked Alport Syndrome.

Pathogenicity of a Human Laminin β2 Mutation Revealed in Models of Alport Syndrome.

X-Linked Glomerulopathy Due to COL4A5 Founder Variant.

Temporal retinal thinning and the diagnosis of Alport syndrome and Thin basement membrane nephropathy.

Generation of integration-free induced pluripotent stem cell lines derived from two patients with X-linked Alport syndrome (XLAS).

The Chemical Chaperone, PBA, Reduces ER Stress and Autophagy and Increases Collagen IV α5 Expression in Cultured Fibroblasts From Men With X-Linked Alport Syndrome and Missense Mutations.

[Detection of large deletions in X linked Alport syndrome using competitive multiplex fluorescence polymerase chain reaction].

ANCA vasculitis in a patient with Alport syndrome: a difficult diagnosis but a treatable disease!

Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis.

Familial hematuria: A review.

Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome.

X-Linked Alport Dogs Demonstrate Mesangial Filopodial Invasion of the Capillary Tuft as an Early Event in Glomerular Damage.

[Alport syndrome: Hereditary nephropathy associated with mutations in genes coding for type IV collagen chains].

Female X-linked Alport syndrome with somatic mosaicism.

A Novel Mutation in a Japanese Family with X-linked Alport Syndrome.

Prospective study on the potential of RAAS blockade to halt renal disease in Alport syndrome patients with heterozygous mutations.

Alport Syndrome in Women and Girls.

Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.

A Novel Splicing Mutation Identified in a Chinese Family with X-linked Alport Syndrome Using Targeted Next-Generation Sequencing.

[Clinical and genetic features of X-linked Alport syndrome in men positive for the collagen Ⅳ α5 chain in epidermal basement membrane].

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.

[Diagnosis of Alport syndrome].

Phenotypic heterogeneity in females with X-linked Alport syndrome.

Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life.

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

Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome.

Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.