4.6 Article

Genetic Disorders of the Glomerular Filtration Barrier

Related references

Note: Only part of the references are listed.
Article Transplantation

Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome

Daniela A. Braun et al.

NEPHROLOGY DIALYSIS TRANSPLANTATION (2019)

Article Urology & Nephrology

Contributions of Rare Gene Variants to Familial and Sporadic FSGS

Minxian Wang et al.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2019)

Article Urology & Nephrology

Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome

Ashish K. Solanki et al.

KIDNEY INTERNATIONAL (2019)

Article Urology & Nephrology

Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen

Rany M. Salem et al.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2019)

Article Urology & Nephrology

Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS

Tony Yao et al.

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2019)

Article Medicine, General & Internal

Diagnostic Utility of Exome Sequencing for Kidney Disease

E. E. Groopman et al.

NEW ENGLAND JOURNAL OF MEDICINE (2019)

Article Urology & Nephrology

Renal Involvement in Neuropathy, Ataxia, Retinitis Pigmentosa (NARP) Syndrome: A Case Report

Sandrine Lemoine et al.

AMERICAN JOURNAL OF KIDNEY DISEASES (2018)

Review Cardiac & Cardiovascular Systems

A role for collagen type IV in cardiovascular disease?

L. B. Steffensen et al.

AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY (2018)

Article Biochemistry & Molecular Biology

Alport syndrome and Pierson syndrome: Diseases of the glomerular basement membrane

Steven D. Funk et al.

MATRIX BIOLOGY (2018)

Article Multidisciplinary Sciences

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

Shazia Ashraf et al.

NATURE COMMUNICATIONS (2018)

Review Urology & Nephrology

Precision gene editing technology and applications in nephrology

Zachary WareJoncas et al.

NATURE REVIEWS NEPHROLOGY (2018)

Article Urology & Nephrology

Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal Disease

Rachel C. Challis et al.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2017)

Article Urology & Nephrology

MAGI2 Mutations Cause Congenital Nephrotic Syndrome

Agnieszka Bierzynska et al.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2017)

Article Genetics & Heredity

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Daniela A. Braun et al.

NATURE GENETICS (2017)

Article Genetics & Heredity

Clinical application of whole-exome sequencing across clinical indications

Kyle Retterer et al.

GENETICS IN MEDICINE (2016)

Article Transplantation

Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis

Christine Gast et al.

NEPHROLOGY DIALYSIS TRANSPLANTATION (2016)

Article Pathology

Glypican-5 Increases Susceptibility to Nephrotic Damage in Diabetic Kidney

Koji Okamoto et al.

AMERICAN JOURNAL OF PATHOLOGY (2015)

Article Urology & Nephrology

Spectrum of Steroid-Resistant and Congenital Nephrotic Syndrome in Children: The PodoNet Registry Cohort

Agnes Trautmann et al.

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2015)

Article Medicine, Research & Experimental

KANK deficiency leads to pod ocyte dysfunction and nephrotic syndrome

Heon Yung Gee et al.

JOURNAL OF CLINICAL INVESTIGATION (2015)

Article Virology

The Legacy of Nat Sternberg: The Genesis of Cre-lox Technology

Michael Yarmolinsky et al.

ANNUAL REVIEW OF VIROLOGY, VOL 2 (2015)

Article Urology & Nephrology

A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

Carolin E. Sadowski et al.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2015)

Review Physiology

TRPC6 channel as an emerging determinant of the podocyte injury susceptibility in kidney diseases

Daria V. Ilatovskaya et al.

AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY (2015)

Article Urology & Nephrology

Feasibility of Repairing Glomerular Basement Membrane Defects in Alport Syndrome

Xiaobo Lin et al.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2014)

Article Urology & Nephrology

Global Analysis Reveals the Complexity of the Human Glomerular Extracellular Matrix

Rachel Lennon et al.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2014)

Article Urology & Nephrology

Genotype-phenotype associations in WT1 glomerulopathy

Beata S. Lipska-Zietkiewicz et al.

KIDNEY INTERNATIONAL (2014)

Review Endocrinology & Metabolism

The importance of podocyte adhesion for a healthy glomerulus

Rachel Lennon et al.

FRONTIERS IN ENDOCRINOLOGY (2014)

Article Urology & Nephrology

Combined Complement Gene Mutations in Atypical Hemolytic Uremic Syndrome Influence Clinical Phenotype

Elena Bresin et al.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2013)

Article Genetics & Heredity

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

Mathieu Lemaire et al.

NATURE GENETICS (2013)

Article Genetics & Heredity

COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke

Marion Jeanne et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Medicine, General & Internal

Integrin α3 Mutations with Kidney, Lung, and Skin Disease

Cristina Has et al.

NEW ENGLAND JOURNAL OF MEDICINE (2012)

Article Biotechnology & Applied Microbiology

clusterProfiler: an R Package for Comparing Biological Themes Among Gene Clusters

Guangchuang Yu et al.

OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY (2012)

Article Genetics & Heredity

Disruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome

Fatih Ozaltin et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Article Genetics & Heredity

Common variation in GPC5 is associated with acquired nephrotic syndrome

Koji Okamoto et al.

NATURE GENETICS (2011)

Article Medicine, General & Internal

MYO1E Mutations and Childhood Familial Focal Segmental Glomerulosclerosis

Caterina Mele et al.

NEW ENGLAND JOURNAL OF MEDICINE (2011)

Article Biochemistry & Molecular Biology

Molecular make-up of the glomerular filtration barrier

Jaakko Patrakka et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2010)

Article Multidisciplinary Sciences

Association of Trypanolytic ApoL1 Variants with Kidney Disease in African Americans

Giulio Genovese et al.

SCIENCE (2010)

Review Physiology

Cell biology of the glomerular podocyte

H Pavenstadt et al.

PHYSIOLOGICAL REVIEWS (2003)

Article Urology & Nephrology

Glomerular endothelial cells and podocytes jointly synthesize laminin-1 and-11

PL St John et al.

KIDNEY INTERNATIONAL (2001)

Article Urology & Nephrology

Congenital focal segmental glomerulosclerosis associated with β4 integrin mutation and epidermolysis bullosa

N Kambham et al.

AMERICAN JOURNAL OF KIDNEY DISEASES (2000)