UB Paderborn / Katalog / Suche / in CDI

1 – 24 von 24

Sortiert nach

Blood kidney injury molecule-1 is a biomarker of acute and chronic kidney injury and predicts progression to ESRD in type I diabetes

Journal of the American Society of Nephrology, 2014-10, Vol.25 (10), p.2177-2186

2014

Link zum Volltext

Verfügbarkeit prüfen

Kidney-differentiated cells derived from Lowe Syndrome patient's iPSCs show ciliogenesis defects and Six2 retention at the Golgi complex

PloS one, 2018-02, Vol.13 (2), p.e0192635-e0192635

2018

Link zum Volltext

Verfügbarkeit prüfen

The Future of Genetic Disease Studies: Assembling an Updated Multidisciplinary Toolbox

Frontiers in cell and developmental biology, 2022-04, Vol.10, p.886448-886448

2022

Link zum Volltext

Verfügbarkeit prüfen

A novel, safe, fast and efficient treatment for Her2‐positive and negative bladder cancer utilizing an EGF‐anthrax toxin chimera

International journal of cancer, 2020-01, Vol.146 (2), p.449-460

2020

Link zum Volltext

Verfügbarkeit prüfen

Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review

Frontiers in genetics, 2024-01, Vol.14, p.1298574

2024

Link zum Volltext

Verfügbarkeit prüfen

P183: Genome sequencing increases the diagnostic yield in exome-negative individuals with rare genetic disorders

Genetics in Medicine Open, 2024, Vol.2, p.101080

2024

Link zum Volltext

Verfügbarkeit prüfen

Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes

Biomolecules (Basel, Switzerland), 2023-03, Vol.13 (4), p.615

2023

Link zum Volltext

Verfügbarkeit prüfen

Abstract 2077: The Epidermal Growth Factor Receptor variant III (EGFRvIII) induces the assembly of a unique intracellular compartment with mixed early endosomal and endoplasmic reticular nature

The Journal of biological chemistry, 2023, Vol.299 (3), p.104386, Article 104386

2023

Link zum Volltext

Verfügbarkeit prüfen

Differential effect of OCRL1 patient mutations on protein localization, and sensitivity to FDA‐approved drug suppression of cellular phenotypes associated with Lowe syndrome

The FASEB journal, 2018-04, Vol.32 (S1), p.542.5-542.5

2018

Link zum Volltext

Verfügbarkeit prüfen

Abstract 2001: A Conformational Disease Component of Lowe Syndrome Pathology Rescued by Allosteric Activator Candidates

The Journal of biological chemistry, 2023, Vol.299 (3), p.103819, Article 103819

2023

Link zum Volltext

Verfügbarkeit prüfen

Allosteric activators of Ocrl1: a novel therapeutic strategy against Lowe syndrome

The FASEB journal, 2020-04, Vol.34 (S1), p.1-1

2020

Link zum Volltext

Verfügbarkeit prüfen

LGG-14. TREATMENT OF TWO PEDIATRIC FGFR-ALTERED LOW-GRADE GLIONEURONAL TUMORS WITH MEK INHIBITION

Neuro-oncology (Charlottesville, Va.), 2023-06, Vol.25 (Supplement_1), p.i58-i58

2023

Link zum Volltext

Verfügbarkeit prüfen

Role of OCRL1-Dependent Signaling Abnormalities and Mutation Heterogeneity in Lowe Syndrome Cellular Phenotypes

Ramadesikan, Swetha

2020

Link zum Volltext
ProQuest

Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes

Human molecular genetics, 2021-04, Vol.30 (3-4), p.198-212

2021

Link zum Volltext

Verfügbarkeit prüfen

Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statins

Human molecular genetics, 2020-06, Vol.29 (10), p.1700-1715

2020

Link zum Volltext

Verfügbarkeit prüfen

A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity

Clinical immunology (Orlando, Fla.), 2024-07, Vol.264, p.110244-110244, Article 110244

2024

Link zum Volltext

Verfügbarkeit prüfen

Cerebral organoids containing an AUTS2 missense variant model microcephaly

Brain (London, England : 1878), 2023-01, Vol.146 (1), p.387-404

2023

Link zum Volltext

Verfügbarkeit prüfen

Abstract 5195: Kidney injury molecule-1: a novel therapeutic target in renal cell carcinoma

Cancer research (Chicago, Ill.), 2013-04, Vol.73 (8_Supplement), p.5195-5195

2013

Link zum Volltext

Verfügbarkeit prüfen

Novel inherited CDX2 variant segregating in a family with diverse congenital malformations of the genitourinary system

Cold Spring Harbor molecular case studies, 2023-12, Vol.9 (4), p.a006294

2023

Link zum Volltext

Verfügbarkeit prüfen

Role of Ocrl1 and lnpp5E in primary cilia assembly and maintenance: a phosphatidylinositol phosphatase relay system?

Research and reports in biology, 2016-01, Vol.7, p.15

2016

Link zum Volltext

Verfügbarkeit prüfen

Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease

Cold Spring Harbor molecular case studies, 2022-02, Vol.8 (2), p.mcs.a006165

2022

Link zum Volltext

Verfügbarkeit prüfen

Role of Ocrl1 in Primary Cilia Assembly

International Review of Cell and Molecular Biology, 2015, Vol.317, p.331

Jeon, Kwang W

2015

Link zum Volltext

Verfügbarkeit prüfen

Role of Ocrl1 and Inpp5E in primary cilia assembly and maintenance: a phosphatidylinositol phosphatase relay system?

Research and reports in biology, 2016-01, Vol.7, p.15

2016

Link zum Volltext

Verfügbarkeit prüfen

Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review

Frontiers in genetics, 2023, Vol.14, p.1298574-1298574

2023

Link zum Volltext

Verfügbarkeit prüfen

1 – 24 von 24

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(22)
Mit Volltextzugriff
(22)

Publikationsform

Sprache

Englisch
(24)
Japanisch
(2)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Blood kidney injury molecule-1 is a biomarker of acute and chronic kidney injury and predicts progression to ESRD in type I diabetes

Kidney-differentiated cells derived from Lowe Syndrome patient's iPSCs show ciliogenesis defects and Six2 retention at the Golgi complex

The Future of Genetic Disease Studies: Assembling an Updated Multidisciplinary Toolbox

A novel, safe, fast and efficient treatment for Her2‐positive and negative bladder cancer utilizing an EGF‐anthrax toxin chimera

Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review

P183: Genome sequencing increases the diagnostic yield in exome-negative individuals with rare genetic disorders

Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes

Abstract 2077: The Epidermal Growth Factor Receptor variant III (EGFRvIII) induces the assembly of a unique intracellular compartment with mixed early endosomal and endoplasmic reticular nature

Differential effect of OCRL1 patient mutations on protein localization, and sensitivity to FDA‐approved drug suppression of cellular phenotypes associated with Lowe syndrome

Abstract 2001: A Conformational Disease Component of Lowe Syndrome Pathology Rescued by Allosteric Activator Candidates

Allosteric activators of Ocrl1: a novel therapeutic strategy against Lowe syndrome

LGG-14. TREATMENT OF TWO PEDIATRIC FGFR-ALTERED LOW-GRADE GLIONEURONAL TUMORS WITH MEK INHIBITION

Role of OCRL1-Dependent Signaling Abnormalities and Mutation Heterogeneity in Lowe Syndrome Cellular Phenotypes

Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes

Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statins

A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity

Cerebral organoids containing an AUTS2 missense variant model microcephaly

Abstract 5195: Kidney injury molecule-1: a novel therapeutic target in renal cell carcinoma

Novel inherited CDX2 variant segregating in a family with diverse congenital malformations of the genitourinary system

Role of Ocrl1 and lnpp5E in primary cilia assembly and maintenance: a phosphatidylinositol phosphatase relay system?

Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease

Role of Ocrl1 in Primary Cilia Assembly

Role of Ocrl1 and Inpp5E in primary cilia assembly and maintenance: a phosphatidylinositol phosphatase relay system?

Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review

Suchergebnisse filtern