Cargando…

Mutations in RPSA and NKX2‐3 link development of the spleen and intestinal vasculature

Idiopathic intestinal varicosis is a developmental disorder defined by dilated and convoluted submucosal veins in the colon or small bowel. A limited number of families with idiopathic intestinal varices has been reported, but the genetic cause has not yet been identified. We performed whole‐exome a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kerkhofs, Chantal, Stevens, Servi J. C., Faust, Saul N., Rae, William, Williams, Anthony P., Wurm, Peter, Østern, Rune, Fockens, Paul, Würfel, Christiane, Laass, Martin, Kokke, Freddy, Stegmann, Alexander P. A., Brunner, Han G.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6972609/ https://www.ncbi.nlm.nih.gov/pubmed/31498527 http://dx.doi.org/10.1002/humu.23909

Ejemplares similares

Data on intracellular localization of RPSA upon alteration of its redox state
por: Vilas-Boas, Filipe, et al.
Publicado: (2015)

Anti-tubercular Activity of Pyrazinamide is Independent of trans-Translation and RpsA
por: Dillon, Nicholas A., et al.
Publicado: (2017)

TRPM7/RPSA Complex Regulates Pancreatic Cancer Cell Migration
por: Lefebvre, Thibaut, et al.
Publicado: (2020)

Gibbs Free Energy Calculation of Mutation in PncA and RpsA Associated With Pyrazinamide Resistance
por: Khan, Muhammad Tahir, et al.
Publicado: (2020)

Evaluation of the Ribosomal Protein S1 Gene (rpsA) as a Novel Biomarker for Mycobacterium Species Identification
por: Duan, Hongfei, et al.
Publicado: (2015)

Structural and free energy landscape of novel mutations in ribosomal protein S1 (rpsA) associated with pyrazinamide resistance
por: Khan, Muhammad Tahir, et al.
Publicado: (2019)

Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia
por: Oszer, Aleksandra, et al.
Publicado: (2021)

Absence of Nkx2-3 induces ectopic lymphatic endothelial differentiation associated with impaired extramedullary stress hematopoiesis in the spleen
por: Gábris, Fanni, et al.
Publicado: (2023)

In Silico Drug Designing for ala438 Deleted Ribosomal Protein S1 (RpsA) on the Basis of the Active Compound Zrl15
por: Wadood, Abdul, et al.
Publicado: (2021)

Successful Treatment of Refractory Ulcerative Proctitis in a Pediatric Patient Using Topical Tacrolimus
por: Nowacki, Rélana, et al.
Publicado: (2020)

A Multinational Analysis of Mutations and Heterogeneity in PZase, RpsA, and PanD Associated with Pyrazinamide Resistance in M/XDR Mycobacterium tuberculosis
por: Ramirez-Busby, S. M., et al.
Publicado: (2017)

Mycobacterium tuberculosis ribosomal protein S1 (RpsA) and variants with truncated C-terminal end show absence of interaction with pyrazinoic acid
por: Vallejos-Sánchez, Katherine, et al.
Publicado: (2020)

Desmin enters the nucleus of cardiac stem cells and modulates Nkx2.5 expression by participating in transcription factor complexes that interact with the nkx2.5 gene
por: Fuchs, Christiane, et al.
Publicado: (2016)

The first report of RPSA polymorphisms, also called 37/67 kDa LRP/LR gene, in sporadic Creutzfeldt-Jakob disease (CJD)
por: Yun, Jisuk, et al.
Publicado: (2011)

Streptococcus suis serotype 2 enolase interaction with host brain microvascular endothelial cells and RPSA-induced apoptosis lead to loss of BBB integrity
por: Liu, Hongtao, et al.
Publicado: (2021)

Emerging roles of the cellular prion protein (PrP(C)) and 37/67 kDa laminin receptor (RPSA) interaction in cancer biology
por: Limone, Adriana, et al.
Publicado: (2023)

Nkx2.7 and Nkx2.5 Function Redundantly and Are Required for Cardiac Morphogenesis of Zebrafish Embryos
por: Tu, Chi-Tang, et al.
Publicado: (2009)

Insight into novel clinical mutants of RpsA-S324F, E325K, and G341R of Mycobacterium tuberculosis associated with pyrazinamide resistance
por: Khan, Muhammad Tahir, et al.
Publicado: (2018)

The NANCI–Nkx2.1 gene duplex buffers Nkx2.1 expression to maintain lung development and homeostasis
por: Herriges, Michael J., et al.
Publicado: (2017)

NKL Homeobox Genes NKX2-3 and NKX2-4 Deregulate Megakaryocytic-Erythroid Cell Differentiation in AML
por: Nagel, Stefan, et al.
Publicado: (2021)

The Role of Nkx3.1 in Cancers and Stemness
por: Antao, Ainsley Mike, et al.
Publicado: (2021)

Expression of Sumoylation Deficient Nkx2.5 Mutant in Nkx2.5 Haploinsufficient Mice Leads to Congenital Heart Defects
por: Kim, Eun Young, et al.
Publicado: (2011)

Nkx2.2 and Nkx2.9 Are the Key Regulators to Determine Cell Fate of Branchial and Visceral Motor Neurons in Caudal Hindbrain
por: Jarrar, Wassan, et al.
Publicado: (2015)

nkx2.1 and nkx2.4 genes function partially redundant during development of the zebrafish hypothalamus, preoptic region, and pallidum
por: Manoli, Martha, et al.
Publicado: (2014)

Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies
por: Østern, Rune, et al.
Publicado: (2013)

Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations
por: Østern, Rune, et al.
Publicado: (2014)

Suppression of Lung Adenocarcinoma Progression by Nkx2-1
por: Winslow, Monte M., et al.
Publicado: (2011)

NKX6.3 controls gastric differentiation and tumorigenesis
por: Yoon, Jung Hwan, et al.
Publicado: (2015)

Endocrinology of the vasculature
Publicado: (1996)

Interaction Between Blood Vasculatures and Lymphatic Vasculatures During Inflammation
por: Wang, Shun-Shun, et al.
Publicado: (2023)

Characterization of Nkx6-2-Derived Neocortical Interneuron Lineages
por: Sousa, Vitor H., et al.
Publicado: (2009)

The Ambiguous Role of NKX2-5 Mutations in Thyroid Dysgenesis
por: van Engelen, Klaartje, et al.
Publicado: (2012)

Nkx2.5+ Cardiomyoblasts Contribute to Cardiomyogenesis in the Neonatal Heart
por: Serpooshan, Vahid, et al.
Publicado: (2017)

NKX2-5 Variant in Two Siblings with Thyroid Hemiagenesis
por: Szczepanek-Parulska, Ewelina, et al.
Publicado: (2022)

AG-9, an Elastin-Derived Peptide, Increases In Vitro Oral Tongue Carcinoma Cell Invasion, through an Increase in MMP-2 Secretion and MT1-MMP Expression, in a RPSA-Dependent Manner
por: Bretaudeau, Clara, et al.
Publicado: (2020)

Reply regarding Starreveld scoring method and constipation
por: Kokke, Fredericus T.
Publicado: (2011)

HOXB5 Cooperates with NKX2-1 in the Transcription of Human RET
por: Zhu, Jiang, et al.
Publicado: (2011)

Investigation of somatic NKX2-5 mutations in congenital heart disease
por: Draus, J M, et al.
Publicado: (2009)

Nkx3.1 controls the DNA repair response in the mouse prostate
por: Zhang, Hailan, et al.
Publicado: (2015)

Benign hereditary chorea related to NKX2-1 with ataxia and dystonia
por: de Gusmao, Claudio M., et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_nhoobs9bmb4pp0sriphmmnpac2