Cargando…

A study of new NEK8 mutations in patients with severe renal cystic hypodysplasia and ciliopathy-associated defects

Detalles Bibliográficos
Autores principales:	Grampa, V, Delous, M, Silbermann, F, Oyde, G, Krug, P, Filhol, E, Alessandri, JL, Sigaudy, S, Bouvier, R, Zabot, MT, Antignac, C, Gubler, M, Attié-Bitach, T, Benmerah, A, Jeanpierre, C, Saunier, S
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Poster Presentation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4519170/ http://dx.doi.org/10.1186/2046-2530-4-S1-P54

Ejemplares similares

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation
por: Grampa, Valentina, et al.
Publicado: (2016)

Nephrocystins play a crucial role in renal epithelial morphogenesis via the regulation of Wnt/PCP components Dishevelled and Rho GTPases
por: Saunier, S, et al.
Publicado: (2012)

Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis
por: Stokman, Marijn F., et al.
Publicado: (2021)

Agonists of prostaglandin E(2) receptors as potential first in class treatment for nephronophthisis and related ciliopathies
por: Garcia, Hugo, et al.
Publicado: (2022)

Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity
por: Mahuzier, Alexia, et al.
Publicado: (2012)

Alteration of nephrocystins and IFT-A proteins causes similar ciliary phenotypes leading to Nephronophthisis
por: Saunier, S, et al.
Publicado: (2012)

The Ciliopathy-Associated Cep104 Protein Interacts with Tubulin and Nek1 Kinase
por: Al-Jassar, Caezar, et al.
Publicado: (2017)

Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6
por: Delous, Marion, et al.
Publicado: (2009)

Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene
por: Perrault, I, et al.
Publicado: (2012)

A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance
por: Chivukula, Raghu R., et al.
Publicado: (2020)

Deletion of the Prorenin Receptor from the Ureteric Bud Causes Renal Hypodysplasia
por: Song, Renfang, et al.
Publicado: (2013)

Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy
por: Perrault, I, et al.
Publicado: (2015)

PAX2 Mutation-Related Renal Hypodysplasia: Review of the Literature and Three Case Reports
por: Chang, Yu-Ming, et al.
Publicado: (2022)

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype
por: Perrault, Isabelle, et al.
Publicado: (2015)

Identification of human mutations in TRAF3IP1 in patients with nephronophthisis and retinal degeneration
por: Becker-Heck, A, et al.
Publicado: (2015)

Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medullary collecting duct cells, independently of nephrocystin-1 and nephrocystin-4
por: Garfa Traoré, Meriem, et al.
Publicado: (2023)

CiliaMiner: an integrated database for ciliopathy genes and ciliopathies
por: Turan, Merve Gül, et al.
Publicado: (2023)

A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3
por: Wu, Sixian, et al.
Publicado: (2022)

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia
por: Reilly, Madeline Louise, et al.
Publicado: (2022)

Kinase Inhibitor Profile for Human Nek1, Nek6, and Nek7 and Analysis of the Structural Basis for Inhibitor Specificity
por: Moraes, Eduardo Cruz, et al.
Publicado: (2015)

The more we know, the more we have to discover: an exciting future for understanding cilia and ciliopathies
por: Benmerah, Alexandre, et al.
Publicado: (2015)

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization
por: Bizet, Albane A., et al.
Publicado: (2015)

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
por: Davis, Erica E., et al.
Publicado: (2011)

Educational paper: Ciliopathies
por: Bergmann, Carsten
Publicado: (2011)

Combatting renal ciliopathies
por: Giles, RH
Publicado: (2012)

CPLANE Complex and Ciliopathies
por: Martín-Salazar, Jesús Eduardo, et al.
Publicado: (2022)

Golgi Dysfunctions in Ciliopathies
por: Masson, Justine, et al.
Publicado: (2022)

Ciliopathies in pediatric endocrinology
por: Cicolini, Ilenia, et al.
Publicado: (2023)

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
por: Khanna, Hemant, et al.
Publicado: (2009)

Alagille syndrome due to a de novo NOTCH2 mutation presenting as prenatal oligohydramnios and congenital bilateral renal hypodysplasia: A case report
por: Xu, Fengdan, et al.
Publicado: (2022)

Patient-Patient Similarity-Based Screening of a Clinical Data Warehouse to Support Ciliopathy Diagnosis
por: Chen, Xiaoyi, et al.
Publicado: (2022)

Mechanistic basis of Nek7 activation through Nek9 binding and induced dimerization
por: Haq, Tamanna, et al.
Publicado: (2015)

Ciliopathies: an expanding disease spectrum
por: Waters, Aoife M., et al.
Publicado: (2011)

Ciliopathies A reference for clinicians
por: Heidet, Laurence, et al.
Publicado: (2014)

Ciliopathy in PCS (MVA) syndrome
por: Miyamoto, Tatsuo, et al.
Publicado: (2015)

Characterizing the morbid genome of ciliopathies
por: Shaheen, Ranad, et al.
Publicado: (2016)

Exploring the Spectrum of Kidney Ciliopathies
por: Santoni, Matteo, et al.
Publicado: (2020)

Ciliopathies: Coloring outside of the lines
por: Strong, Alanna, et al.
Publicado: (2020)

Editorial: Genetics and mechanism of ciliopathies
por: Pei, Steven Lim Cho, et al.
Publicado: (2022)

Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa
por: Takahashi, Vitor K. L., et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_836sjg226s9i0iv9boc7uerojg