UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Cleavage of Polycystin-1 Requires the Receptor for Egg Jelly Domain and Is Disrupted by Human Autosomal-Dominant Polycystic Kidney Disease 1-Associated Mutations

Proceedings of the National Academy of Sciences - PNAS, 2002-12, Vol.99 (26), p.16981-16986

2002

Volltextzugriff (PDF)

The Molecular Basis of Focal Cyst Formation in Human Autosomal Dominant Polycystic Kidney Disease Type I

Cell, 1996-12, Vol.87 (6), p.979-987

1996

Volltextzugriff (PDF)

An Unusual Pattern of Mutation in the Duplicated Portion of PKD1 Is Revealed by Use of a Novel Strategy for Mutation Detection

Human molecular genetics, 1997-09, Vol.6 (9), p.1473-1481

1997

Volltextzugriff (PDF)

Gene Conversion is a Likely Cause of Mutation in PKD1

Human molecular genetics, 1998-08, Vol.7 (8), p.1239-1243

1998

Volltextzugriff (PDF)

Somatic Mutation in Individual Liver Cysts Supports a Two-Hit Model of Cystogenesis in Autosomal Dominant Polycystic Kidney Disease

Molecular cell, 1998-08, Vol.2 (2), p.247-251

1998

Volltextzugriff (PDF)

Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease

Journal of the American Society of Nephrology, 1999-11, Vol.10 (11), p.2342-2351

1999

Volltextzugriff (PDF)

Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples

Journal of the American Society of Nephrology, 2001-05, Vol.12 (5), p.955-963

2001

Volltextzugriff (PDF)

Thirteen novel mutations of the replicated region of PKD1 in an Asian population

Kidney international, 2000-10, Vol.58 (4), p.1400-1412

2000

Volltextzugriff (PDF)

Somatic Mutation as Mechanism for Cyst Formation in Autosomal Dominant Polycystic Kidney Disease

Molecular Genetics and Metabolism, 1999-10, Vol.68 (2), p.237-242

1999

Volltextzugriff (PDF)

DNA testing for live kidney donors at risk for autosomal dominant polycystic kidney disease

Transplantation, 2009-01, Vol.87 (1), p.133

2009

Volltextzugriff (PDF)

Somatic PKD2 mutations in individual kidney and liver cysts support a two-hit model of cystogenesis in type 2 autosomal dominant polycystic kidney disease

Journal of the American Society of Nephrology, 1999-07, Vol.10 (7), p.1524-1529

1999

Volltextzugriff (PDF)

Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans -heterozygous mutations

Nature genetics, 2000-06, Vol.25 (2), p.143-144

2000

Volltextzugriff (PDF)

Mutation Detection of PKD1 Identifies a Novel Mutation Common to Three Families with Aneurysms and/or Very-Early-Onset Disease

American journal of human genetics, 1999-12, Vol.65 (6), p.1561-1571

1999

Volltextzugriff (PDF)

Molecular basis of autosomal dominant polycystic kidney disease

Seminars in nephrology, 1999-07, Vol.19 (4), p.327-343

1999

Volltextzugriff (PDF)

Defining cellular complexity in human autosomal dominant polycystic kidney disease by multimodal single cell analysis

Nature communications, 2022-10, Vol.13 (1), p.6497-19, Article 6497

2022

Volltextzugriff (PDF)

Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease

American journal of human genetics, 2016-06, Vol.98 (6), p.1193-1207

2016

Volltextzugriff (PDF)

Multiomics profiling of mouse polycystic kidney disease progression at a single-cell resolution

Proceedings of the National Academy of Sciences - PNAS, 2024-10, Vol.121 (43), p.e2410830121

2024

Volltextzugriff (PDF)

Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype

American journal of human genetics, 2022-01, Vol.109 (1), p.136-156

2022

Volltextzugriff (PDF)

Inhibition of histone deacetylase 6 activity reduces cyst growth in polycystic kidney disease

Kidney international, 2016-07, Vol.90 (1), p.90-99

2016

Volltextzugriff (PDF)

GDNF drives rapid tubule morphogenesis in a novel 3D in vitro model for ADPKD

Journal of cell science, 2020-07, Vol.133 (14)

2020

Volltextzugriff (PDF)

Polycystin-1 regulates STAT activity by a dual mechanism

Proceedings of the National Academy of Sciences - PNAS, 2011-05, Vol.108 (19), p.7985-7990

2011

Volltextzugriff (PDF)

Renal cyst growth is the main determinant for hypertension and concentrating deficit in Pkd1-deficient mice

Kidney international, 2014-05, Vol.85 (5), p.1137-1150

2014

Volltextzugriff (PDF)

Polycystin Signaling Is Required for Directed Endothelial Cell Migration and Lymphatic Development

Cell reports (Cambridge), 2014-05, Vol.7 (3), p.634-644

2014

Volltextzugriff (PDF)

Genomic Analysis to Avoid Misdiagnosis of Adults With Bilateral Renal Cysts

Annals of internal medicine, 2018-07, Vol.169 (2), p.130

2018

Volltextzugriff (PDF)

The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway

Human molecular genetics, 2009-01, Vol.18 (1), p.151-163

2009

Volltextzugriff (PDF)

1 – 25 von 36

Suche als RSS-Feed

Aktive Filter

ThemaPolycystic Kidney, Autosomal Dominant - Genetics

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(34)
Mit Volltextzugriff
(31)

Publikationsform

Artikel
(36)

Sprache

Englisch
(36)

Erscheinungsjahr

n.n

Thema

Science & Technology
(33)
Humans
(31)
Life Sciences & Biomedicine
(30)
Animals
(15)
Kidneys
(15)
Mutation
(15)
Female
(13)
Male
(13)
Trpp Cation Channels - Genetics
(13)
Urology & Nephrology
(13)
Biological And Medical Sciences
(12)
Medical Sciences
(12)
Nephrology. Urinary Tract Diseases
(11)
Genetics & Heredity
(10)
Polycystic Kidney, Autosomal Dominant - Metabolism
(10)
Trpp Cation Channels
(10)
Mice
(9)
Base Sequence
(8)
Disease Models, Animal
(8)

14 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Cleavage of Polycystin-1 Requires the Receptor for Egg Jelly Domain and Is Disrupted by Human Autosomal-Dominant Polycystic Kidney Disease 1-Associated Mutations

The Molecular Basis of Focal Cyst Formation in Human Autosomal Dominant Polycystic Kidney Disease Type I

An Unusual Pattern of Mutation in the Duplicated Portion of PKD1 Is Revealed by Use of a Novel Strategy for Mutation Detection

Gene Conversion is a Likely Cause of Mutation in PKD1

Somatic Mutation in Individual Liver Cysts Supports a Two-Hit Model of Cystogenesis in Autosomal Dominant Polycystic Kidney Disease

Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease

Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples

Thirteen novel mutations of the replicated region of PKD1 in an Asian population

Somatic Mutation as Mechanism for Cyst Formation in Autosomal Dominant Polycystic Kidney Disease

DNA testing for live kidney donors at risk for autosomal dominant polycystic kidney disease

Somatic PKD2 mutations in individual kidney and liver cysts support a two-hit model of cystogenesis in type 2 autosomal dominant polycystic kidney disease

Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans -heterozygous mutations

Mutation Detection of PKD1 Identifies a Novel Mutation Common to Three Families with Aneurysms and/or Very-Early-Onset Disease

Molecular basis of autosomal dominant polycystic kidney disease

Defining cellular complexity in human autosomal dominant polycystic kidney disease by multimodal single cell analysis

Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease

Multiomics profiling of mouse polycystic kidney disease progression at a single-cell resolution

Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype

Inhibition of histone deacetylase 6 activity reduces cyst growth in polycystic kidney disease

GDNF drives rapid tubule morphogenesis in a novel 3D in vitro model for ADPKD

Polycystin-1 regulates STAT activity by a dual mechanism

Renal cyst growth is the main determinant for hypertension and concentrating deficit in Pkd1-deficient mice

Polycystin Signaling Is Required for Directed Endothelial Cell Migration and Lymphatic Development

Genomic Analysis to Avoid Misdiagnosis of Adults With Bilateral Renal Cysts

The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway

Aktive Filter

Suchergebnisse filtern