Cargando…
A Role for Alström Syndrome Protein, Alms1, in Kidney Ciliogenesis and Cellular Quiescence
Premature truncation alleles in the ALMS1 gene are a frequent cause of human Alström syndrome. Alström syndrome is a rare disorder characterized by early obesity and sensory impairment, symptoms shared with other genetic diseases affecting proteins of the primary cilium. ALMS1 localizes to centrosom...
Autores principales: | Li, Guochun, Vega, Raquel, Nelms, Keats, Gekakis, Nicholas, Goodnow, Christopher, McNamara, Peter, Wu, Hua, Hong, Nancy A, Glynne, Richard |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2007
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1761047/ https://www.ncbi.nlm.nih.gov/pubmed/17206865 http://dx.doi.org/10.1371/journal.pgen.0030008 |
Ejemplares similares
-
Novel ALMS1 mutations in Chinese patients with Alström syndrome
por: Liang, Xiaofang, et al.
Publicado: (2013) -
Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients
por: Bea-Mascato, Brais, et al.
Publicado: (2021) -
Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome
por: Wang, Chunmei, et al.
Publicado: (2021) -
Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells
por: Braune, Katarina, et al.
Publicado: (2017) -
ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits
por: Hearn, Tom
Publicado: (2018)