Cargando…

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

Objectives: X-linked Alport syndrome (XLAS) females are at risk of developing proteinuria and chronic kidney damage (CKD). The aim of this study is to evaluate the genotype-phenotype correlation in this rare population. Materials and Methods: This is a prospective, observational study of XLAS female...

Descripción completa

Detalles Bibliográficos
Autores principales:	Mastrangelo, Antonio, Giani, Marisa, Groppali, Elena, Castorina, Pierangela, Soldà, Giulia, Robusto, Michela, Fallerini, Chiara, Bruttini, Mirella, Renieri, Alessandra, Montini, Giovanni
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2020
Materias:	Medicine
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7719790/ https://www.ncbi.nlm.nih.gov/pubmed/33330536 http://dx.doi.org/10.3389/fmed.2020.580376

Ejemplares similares

Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis
por: Chiereghin, Chiara, et al.
Publicado: (2017)

Non-collagen genes role in digenic Alport syndrome
por: Daga, S., et al.
Publicado: (2019)

Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss
por: Chiereghin, Chiara, et al.
Publicado: (2022)

First Independent Replication of the Involvement of LARS2 in Perrault Syndrome by Whole-Exome Sequencing of an Italian Family
por: Soldà, Giulia, et al.
Publicado: (2015)

Single, Double and Triple Blockade of RAAS in Alport Syndrome: Different Tools to Freeze the Evolution of the Disease
por: Mastrangelo, Antonio, et al.
Publicado: (2021)

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing
por: Soldà, Giulia, et al.
Publicado: (2012)

SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa
por: Chiereghin, Chiara, et al.
Publicado: (2021)

In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear
por: Chiereghin, Chiara, et al.
Publicado: (2023)

The variable course of women with X-linked Alport Syndrome
por: Raju, Priya, et al.
Publicado: (2013)

Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype
por: Doddato, Gabriella, et al.
Publicado: (2021)

Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype
por: Doddato, Gabriella, et al.
Publicado: (2023)

Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes
por: Baldassarri, Margherita, et al.
Publicado: (2022)

Clinical and Pathophysiological Insights Into Immunological Mediated Glomerular Diseases in Childhood
por: Mastrangelo, Antonio, et al.
Publicado: (2020)

Natural History and Genotype–Phenotype Correlation in Female X-Linked Alport Syndrome
por: Yamamura, Tomohiko, et al.
Publicado: (2017)

New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells
por: Daga, Sergio, et al.
Publicado: (2019)

Genotype and Outcome After Kidney Transplantation in Alport Syndrome
por: Gillion, Valentine, et al.
Publicado: (2018)

The 2019 and 2021 International Workshops on Alport Syndrome
por: Daga, Sergio, et al.
Publicado: (2022)

Alport Syndrome With Kidney Cysts Is Still Alport Syndrome
por: Savige, Judy, et al.
Publicado: (2021)

Genotype‐phenotype correlation and prognostic impact in Chinese patients with Alport Syndrome
por: Shang, Shunlai, et al.
Publicado: (2019)

Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome
por: Gross, Oliver, et al.
Publicado: (2017)

Host genetic basis of COVID-19: from methodologies to genes
por: Zguro, Kristina, et al.
Publicado: (2022)

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations
por: Savige, Judith, et al.
Publicado: (2016)

X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males
por: Zhang, Xiao, et al.
Publicado: (2018)

Bullous Pemphigoid in X-linked Alport Syndrome
por: Yamawaki, Masahiro, et al.
Publicado: (2022)

Women and Alport syndrome
por: Rheault, Michelle N.
Publicado: (2011)

Alport's Syndrome in Pregnancy
por: Mehta, Suchita, et al.
Publicado: (2013)

Phenotypic heterogeneity in females with X-linked Alport syndrome
por: Allred, Samuel C., et al.
Publicado: (2015)

Sporadic Case of Heterozygous X-Linked Alport Syndrome
por: Zuckerman, Jonathan E., et al.
Publicado: (2023)

Endoplasmic Reticulum Stress Activation in Alport Syndrome Varies Between Genotype and Cell Type
por: Wang, Cong, et al.
Publicado: (2020)

Trimerization and Genotype–Phenotype Correlation of COL4A5 Mutants in Alport Syndrome
por: Kamura, Misato, et al.
Publicado: (2020)

Genotype–phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea
por: Kim, Ji Hyun, et al.
Publicado: (2023)

Sindrome de Alport : revisión bibliográfica
por: Velasco Bello, Fernando Mario
Publicado: (1994)

Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients
por: Mantovani, Stefania, et al.
Publicado: (2021)

Alport syndrome: facts and opinions
por: Kashtan, Clifford
Publicado: (2017)

Genetic diagnosis of Alport syndrome
por: Cheong, Hae Il
Publicado: (2019)

Alport Syndrome Classification and Management
por: Warady, Bradley A., et al.
Publicado: (2020)

Novel Therapies for Alport Syndrome
por: Chavez, Efren, et al.
Publicado: (2022)

Auditory Perception in Alport’s Syndrome
por: Viveiros, Carla Mherlyn, et al.
Publicado: (2015)

Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative
por: Kashtan, Clifford E., et al.
Publicado: (2012)

An explainable model of host genetic interactions linked to COVID-19 severity
por: Onoja, Anthony, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_pcj6rknve1lvn1lv25p5hk3ua7