Cargando…

Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome

Many cellular structures directly imply specific biological functions. For example, normal slit diaphragm structures that extend from podocyte foot processes ensure the filtering function of renal glomeruli. These slits are covered by a number of surface proteins, such as nephrin, podocin, podocalyx...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kang, Hee Gyung, Lee, Moses, Lee, Kyoung Boon, Hughes, Michael, Kwon, Bo Sang, Lee, Sangmoon, McNagny, Kelly M, Ahn, Yo Han, Ko, Jung Min, Ha, Il-Soo, Choi, Murim, Cheong, Hae Il
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2017
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5750479/ https://www.ncbi.nlm.nih.gov/pubmed/29244787 http://dx.doi.org/10.1038/emm.2017.227

Ejemplares similares

Two Korean Infants with Genetically Confirmed Congenital Nephrotic Syndrome of Finnish Type
por: Lee, Beom Hee, et al.
Publicado: (2009)

Nephrotic syndrome: what's new, what's hot?
por: Kang, Hee Gyung, et al.
Publicado: (2015)

Long-term repeated rituximab treatment for childhood steroid-dependent nephrotic syndrome
por: Kim, Ji Hyun, et al.
Publicado: (2017)

Acute kidney injury in childhood-onset nephrotic syndrome: Incidence and risk factors in hospitalized patients
por: Kim, Mi Young, et al.
Publicado: (2018)

Efficacy and safety of rituximab in childhood-onset, difficult-to-treat nephrotic syndrome: A multicenter open-label trial in Korea
por: Ahn, Yo Han, et al.
Publicado: (2018)

Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis
por: Park, Eujin, et al.
Publicado: (2020)

Genetic tests in children with steroid-resistant nephrotic syndrome
por: Cheong, Hae Il
Publicado: (2020)

The CD34-Related Molecule Podocalyxin Is a Potent Inducer of Microvillus Formation
por: Nielsen, Julie S., et al.
Publicado: (2007)

Podocalyxin Regulates Murine Lung Vascular Permeability by Altering Endothelial Cell Adhesion
por: Debruin, Erin J., et al.
Publicado: (2014)

Anuria, Omphalocele, and Perinatal Lethality in Mice Lacking the Cd34-Related Protein Podocalyxin
por: Doyonnas, Regis, et al.
Publicado: (2001)

The cell surface mucin podocalyxin regulates collective breast tumor budding
por: Graves, Marcia L., et al.
Publicado: (2016)

Renal Syndromic Hearing Loss Is Common in Childhood-onset Chronic Kidney Disease
por: Kim, Ji Hyun, et al.
Publicado: (2020)

A nonsense PAX6 mutation in a family with congenital aniridia
por: Han, Kyoung Hee, et al.
Publicado: (2016)

Correction: Park et al. Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis. J. Clin. Med. 2020, 9, 2013
por: Park, Eujin, et al.
Publicado: (2022)

Markers of disease and steroid responsiveness in paediatric idiopathic nephrotic syndrome: Whole-transcriptome sequencing of peripheral blood mononuclear cells
por: Kang, Hee Gyung, et al.
Publicado: (2017)

Distinct Functional Requirements for Podocalyxin in Immature and Mature Podocytes Reveal Mechanisms of Human Kidney Disease
por: Refaeli, Ido, et al.
Publicado: (2020)

A familial case of Blau syndrome caused by a novel NOD2 genetic mutation
por: Kim, Woojoong, et al.
Publicado: (2016)

Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract
por: Ahn, Yo Han, et al.
Publicado: (2020)

PODO447: a novel antibody to a tumor-restricted epitope on the cancer antigen podocalyxin
por: Canals Hernaez, Diana, et al.
Publicado: (2020)

Congenital nephrotic syndrome
por: Jalanko, Hannu
Publicado: (2007)

Targeting a Tumor-Specific Epitope on Podocalyxin Increases Survival in Human Tumor Preclinical Models
por: Canals Hernaez, Diana, et al.
Publicado: (2022)

Podocalyxin enhances breast tumor growth and metastasis and is a target for monoclonal antibody therapy
por: Snyder, Kimberly A, et al.
Publicado: (2015)

Podocalyxin Is a Novel Polysialylated Neural Adhesion Protein with Multiple Roles in Neural Development and Synapse Formation
por: Vitureira, Nathalia, et al.
Publicado: (2010)

Complications of nephrotic syndrome
por: Park, Se Jin, et al.
Publicado: (2011)

Higher Incidence of BK Virus Nephropathy in Pediatric Kidney Allograft Recipients with Alport Syndrome
por: Cho, Young Hoon, et al.
Publicado: (2019)

Renal transplantation in a patient with Bartter syndrome and glomerulosclerosis
por: Lee, Se Eun, et al.
Publicado: (2011)

Ultra-rare Disease and Genomics-Driven Precision Medicine
por: Lee, Sangmoon, et al.
Publicado: (2016)

Congenital Nephrotic Syndrome – Finish Type
por: Spahiu, Lidvana, et al.
Publicado: (2016)

A case of Bartter syndrome type I with atypical presentations
por: Lee, Eun Hye, et al.
Publicado: (2010)

A zebrafish model of congenital nephrotic syndrome of the Finnish type
por: Lee, Mi-Sun, et al.
Publicado: (2022)

Case report: Genetic defects in laminin α5 cause infantile steroid-resistant nephrotic syndrome
por: Sunwoo, Yoon, et al.
Publicado: (2023)

Treatment of steroid-resistant pediatric nephrotic syndrome
por: Kang, Hee Gyung
Publicado: (2011)

Genotype and Phenotype Analyses in Pediatric Patients with HNF1B Mutations
por: Lim, Seon Hee, et al.
Publicado: (2020)

Current understandings in treating children with steroid-resistant nephrotic syndrome
por: Lee, Jiwon M., et al.
Publicado: (2020)

Analysis of 14 Patients With Congenital Nephrotic Syndrome
por: Chen, Yan, et al.
Publicado: (2019)

Diagnostic and Management Challenges in Congenital Nephrotic Syndrome
por: Reynolds, Ben Christopher, et al.
Publicado: (2019)

Nephrotic Syndrome: Genetics, Mechanism, and Therapies
por: Shin, Jae Il, et al.
Publicado: (2018)

Shiga toxin-associated hemolytic uremic syndrome complicated by intestinal perforation in a child with typical hemolytic uremic syndrome
por: Chang, Hye Jin, et al.
Publicado: (2014)

Pathogenesis of minimal change nephrotic syndrome: an immunological concept
por: Kim, Seong Heon, et al.
Publicado: (2016)

Pierson Syndrome in an Infant With Congenital Nephrotic Syndrome and Unique Brain Pathology
por: Hiser, Wesley, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_6qud57uljman5lsfmi1n7o9c64