Cargando…
Modelling human lower urinary tract malformations in zebrafish
Advances in molecular biology are improving our understanding of the genetic causes underlying human congenital lower urinary tract (i.e., bladder and urethral) malformations. This has recently led to the identification of the first disease-causing variants in the gene BNC2 for isolated lower urinar...
Autores principales: | Kolvenbach, Caroline M., Dworschak, Gabriel C., Rieke, Johanna M., Woolf, Adrian S., Reutter, Heiko, Odermatt, Benjamin, Hilger, Alina C. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer International Publishing
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10050536/ https://www.ncbi.nlm.nih.gov/pubmed/36977792 http://dx.doi.org/10.1186/s40348-023-00156-4 |
Ejemplares similares
-
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems
por: Kolvenbach, Caroline M, et al.
Publicado: (2023) -
Lessons Learned from CNV Analysis of Major Birth Defects
por: Hilger, Alina Christine, et al.
Publicado: (2020) -
Exome sequencing implicates a novel heterozygous missense variant in DSTYK in autosomal dominant lower urinary tract dysfunction and mild hereditary spastic paraparesis
por: Vidic, Clara, et al.
Publicado: (2021) -
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction
por: Kolvenbach, Caroline M., et al.
Publicado: (2019) -
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract
por: Hwang, Daw-Yang, et al.
Publicado: (2014)