Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract

Amelie T van der Ven; Asaf Vivante; Friedhelm Hildebrandt

doi:10.1681/ASN.2017050561

Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract

Standard

Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract. / van der Ven, Amelie T; Vivante, Asaf; Hildebrandt, Friedhelm.

in: J AM SOC NEPHROL, Jahrgang 29, Nr. 1, 01.2018, S. 36-50.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Review › Forschung

Harvard

van der Ven, AT, Vivante, A & Hildebrandt, F 2018, 'Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract', J AM SOC NEPHROL, Jg. 29, Nr. 1, S. 36-50. https://doi.org/10.1681/ASN.2017050561

APA

van der Ven, A. T., Vivante, A., & Hildebrandt, F. (2018). Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract. J AM SOC NEPHROL, 29(1), 36-50. https://doi.org/10.1681/ASN.2017050561

Vancouver

van der Ven AT, Vivante A, Hildebrandt F. Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract. J AM SOC NEPHROL. 2018 Jan;29(1):36-50. https://doi.org/10.1681/ASN.2017050561

Bibtex

@article{2db635e896d04e58b9930cd74a77c297,

title = "Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract",

abstract = "Congenital anomalies of the kidneys and urinary tract (CAKUT) comprise a large spectrum of congenital malformations ranging from severe manifestations, such as renal agenesis, to potentially milder conditions, such as vesicoureteral reflux. CAKUT causes approximately 40% of ESRD that manifests within the first three decades of life. Several lines of evidence indicate that CAKUT is often caused by recessive or dominant mutations in single (monogenic) genes. To date, approximately 40 monogenic genes are known to cause CAKUT if mutated, explaining 5%-20% of patients. However, hundreds of different monogenic CAKUT genes probably exist. The discovery of novel CAKUT-causing genes remains challenging because of this pronounced heterogeneity, variable expressivity, and incomplete penetrance. We here give an overview of known genetic causes for human CAKUT and shed light on distinct renal morphogenetic pathways that were identified as relevant for CAKUT in mice and humans.",

keywords = "Animals, Congenital Abnormalities/genetics, Extracellular Matrix/genetics, Humans, Morphogenesis/genetics, Signal Transduction/genetics, Urinary Tract/abnormalities",

author = "{van der Ven}, {Amelie T} and Asaf Vivante and Friedhelm Hildebrandt",

note = "Copyright {\textcopyright} 2018 by the American Society of Nephrology.",

year = "2018",

month = jan,

doi = "10.1681/ASN.2017050561",

language = "English",

volume = "29",

pages = "36--50",

journal = "J AM SOC NEPHROL",

issn = "1046-6673",

publisher = "American Society of Nephrology",

number = "1",

}

RIS

TY - JOUR

T1 - Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract

AU - van der Ven, Amelie T

AU - Vivante, Asaf

AU - Hildebrandt, Friedhelm

PY - 2018/1

Y1 - 2018/1

N2 - Congenital anomalies of the kidneys and urinary tract (CAKUT) comprise a large spectrum of congenital malformations ranging from severe manifestations, such as renal agenesis, to potentially milder conditions, such as vesicoureteral reflux. CAKUT causes approximately 40% of ESRD that manifests within the first three decades of life. Several lines of evidence indicate that CAKUT is often caused by recessive or dominant mutations in single (monogenic) genes. To date, approximately 40 monogenic genes are known to cause CAKUT if mutated, explaining 5%-20% of patients. However, hundreds of different monogenic CAKUT genes probably exist. The discovery of novel CAKUT-causing genes remains challenging because of this pronounced heterogeneity, variable expressivity, and incomplete penetrance. We here give an overview of known genetic causes for human CAKUT and shed light on distinct renal morphogenetic pathways that were identified as relevant for CAKUT in mice and humans.

AB - Congenital anomalies of the kidneys and urinary tract (CAKUT) comprise a large spectrum of congenital malformations ranging from severe manifestations, such as renal agenesis, to potentially milder conditions, such as vesicoureteral reflux. CAKUT causes approximately 40% of ESRD that manifests within the first three decades of life. Several lines of evidence indicate that CAKUT is often caused by recessive or dominant mutations in single (monogenic) genes. To date, approximately 40 monogenic genes are known to cause CAKUT if mutated, explaining 5%-20% of patients. However, hundreds of different monogenic CAKUT genes probably exist. The discovery of novel CAKUT-causing genes remains challenging because of this pronounced heterogeneity, variable expressivity, and incomplete penetrance. We here give an overview of known genetic causes for human CAKUT and shed light on distinct renal morphogenetic pathways that were identified as relevant for CAKUT in mice and humans.

KW - Animals

KW - Congenital Abnormalities/genetics

KW - Extracellular Matrix/genetics

KW - Humans

KW - Morphogenesis/genetics

KW - Signal Transduction/genetics

KW - Urinary Tract/abnormalities

U2 - 10.1681/ASN.2017050561

DO - 10.1681/ASN.2017050561

M3 - SCORING: Review article

C2 - 29079659

VL - 29

SP - 36

EP - 50

JO - J AM SOC NEPHROL

JF - J AM SOC NEPHROL

SN - 1046-6673

IS - 1

ER -