UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 46

Sortiert nach

Update on Dent Disease

The Pediatric clinics of North America, 2019-02, Vol.66 (1), p.169-178

2019

Volltextzugriff (PDF)

Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease

Clinical genetics, 2020-03, Vol.97 (3), p.407-417

2020

Volltextzugriff (PDF)

The Cellular and Physiological Functions of the Lowe Syndrome Protein OCRL1

Traffic (Copenhagen, Denmark), 2014-05, Vol.15 (5), p.471-487

2014

Volltextzugriff (PDF)

From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes

Human mutation, 2011-04, Vol.32 (4), p.379-388

2011

Volltextzugriff (PDF)

Clinical features and genetic analysis of 15 Chinese children with dent disease

Renal failure, 2024-12, Vol.46 (1), p.2349133-2349133

2024

Volltextzugriff (PDF)

Participation of OCRL1, and APPL1, in the expression, proteolysis, phosphorylation and endosomal trafficking of megalin: Implications for Lowe Syndrome

Frontiers in cell and developmental biology, 2022-10, Vol.10, p.911664-911664

2022

Volltextzugriff (PDF)

Megalin mediates plasma membrane to mitochondria cross-talk and regulates mitochondrial metabolism

Cellular and molecular life sciences : CMLS, 2018-11, Vol.75 (21), p.4021-4040

2018

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Novel OCRL1 Mutations in Patients With the Phenotype of Dent Disease

American journal of kidney diseases, 2006-12, Vol.48 (6), p.942.e1-942.e14

2006

Volltextzugriff (PDF)

Dent’s disease: clinical features and molecular basis

Pediatric nephrology (Berlin, West), 2011-05, Vol.26 (5), p.693-704

2011

Volltextzugriff (PDF)

Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases

The EMBO journal, 2006-08, Vol.25 (16), p.3750-3761

2006

Volltextzugriff (PDF)

An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes

European journal of human genetics : EJHG, 2013-06, Vol.21 (6), p.687-690

2013

Volltextzugriff (PDF)

RhoGTPase-binding proteins, the exocyst complex and polarized vesicle trafficking

Small GTPases, 2014-10, Vol.5 (4), p.e28453-e28453

2014

Volltextzugriff (PDF)

Renal manifestations of Dent disease and Lowe syndrome

Pediatric nephrology (Berlin, West), 2008-02, Vol.23 (2), p.243-249

2008

Volltextzugriff (PDF)

Clinical and genetic analysis of Dent disease in 4 Chinese children

Zhongguo dang dai er ke za zhi, 2015-12, Vol.17 (12), p.1261

2015

Volltextzugriff (PDF)

OCRL1 Mutations in Dent 2 Patients Suggest a Mechanism for Phenotypic Variability

Nephron. Physiology, 2009-01, Vol.112 (2), p.p27-p36

2009

Volltextzugriff (PDF)

Comparison of clinical findings between Lowe syndrome and Dent disease with OCRL1 mutation

Japanese journal of pediatric nephrology, 2010/11/15, Vol.23(2), pp.207-213

2010

Volltextzugriff (PDF)

Novel Mutation of OCRL1 in Lowe Syndrome

Indian journal of pediatrics, 2015-01, Vol.82 (1), p.89-92

2015

Volltextzugriff (PDF)

Role of Ocrl1 in Primary Cilia Assembly

International Review of Cell and Molecular Biology, 2015, Vol.317, p.331-347

2015

Volltextzugriff (PDF)

Locus heterogeneity of Dent’s disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations

Pediatric nephrology (Berlin, West), 2009-10, Vol.24 (10), p.1967-1973

2009

Volltextzugriff (PDF)

Lowe syndrome in a 20-year-old male: the clinical course and genetic analysis in OCRL1

Japanese journal of pediatric nephrology, 2011/11/15, Vol.24(2), pp.211-217

2011

Volltextzugriff (PDF)

OCRL1 mutations in patients with Dent disease phenotype in Japan

Pediatric nephrology (Berlin, West), 2007-07, Vol.22 (7), p.975-980

2007

Volltextzugriff (PDF)

Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene

Clinical biochemistry, 2010-04, Vol.43 (6), p.609-614

2010

Volltextzugriff (PDF)

A novel OCRL1 gene mutation in a Turkish child with Lowe syndrome

Turkish journal of pediatrics, 2013-01, Vol.55 (1), p.82-85

2013

Volltextzugriff (PDF)

OCRL1遺伝子異常を伴うLowe症候群とDent病 (Dent2) の1例: その共通点と差異に関して

日本小児腎臓病学会雑誌, 2010/11/15, Vol.23(2), pp.207-213

2010

Volltextzugriff (PDF)

1 – 25 von 46

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(44)
Mit Volltextzugriff
(42)

Publikationsform

Artikel
(45)
Buchkapitel
(1)

Sprache

Erscheinungsjahr

n.n

Thema

Humans
(32)
Life Sciences & Biomedicine
(31)
Science & Technology
(31)
Lowe Syndrome
(26)
Ocrl1
(26)
Phosphoric Monoester Hydrolases - Genetics
(25)
Male
(24)
Oculocerebrorenal Syndrome - Genetics
(22)
Mutation
(18)
Ocrl1 Gene
(16)
Child
(14)
Dent Disease
(14)
Dna Mutational Analysis
(11)
Chloride Channels - Genetics
(10)
Pediatrics
(10)
Urology & Nephrology
(10)
Phenotype
(9)
Child, Preschool
(8)
Genetics & Heredity
(8)
Mutation, Missense
(8)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Update on Dent Disease

Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease

The Cellular and Physiological Functions of the Lowe Syndrome Protein OCRL1

From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes

Clinical features and genetic analysis of 15 Chinese children with dent disease

Participation of OCRL1, and APPL1, in the expression, proteolysis, phosphorylation and endosomal trafficking of megalin: Implications for Lowe Syndrome

Megalin mediates plasma membrane to mitochondria cross-talk and regulates mitochondrial metabolism

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

Novel OCRL1 Mutations in Patients With the Phenotype of Dent Disease

Dent’s disease: clinical features and molecular basis

Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases

An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes

RhoGTPase-binding proteins, the exocyst complex and polarized vesicle trafficking

Renal manifestations of Dent disease and Lowe syndrome

Clinical and genetic analysis of Dent disease in 4 Chinese children

OCRL1 Mutations in Dent 2 Patients Suggest a Mechanism for Phenotypic Variability

Comparison of clinical findings between Lowe syndrome and Dent disease with OCRL1 mutation

Novel Mutation of OCRL1 in Lowe Syndrome

Role of Ocrl1 in Primary Cilia Assembly

Locus heterogeneity of Dent’s disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations

Lowe syndrome in a 20-year-old male: the clinical course and genetic analysis in OCRL1

OCRL1 mutations in patients with Dent disease phenotype in Japan

Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene

A novel OCRL1 gene mutation in a Turkish child with Lowe syndrome

OCRL1遺伝子異常を伴うLowe症候群とDent病 (Dent2) の1例: その共通点と差異に関して

Suchergebnisse filtern