Malformation syndromes associated with disorders of sex development

JM Hutson, SR Grover, M O'connell… - Nature Reviews …, 2014 - nature.com
When embryological development of the internal and/or external genitalia is disrupted, the
patient presents with a disorder of sex development (DSD) in the neonatal period or …

Modern Management of the Exstrophy‐Epispadias Complex

BM Inouye, A Tourchi, HN Di Carlo… - Surgery research …, 2014 - Wiley Online Library
The exstrophy‐epispadias complex is a rare spectrum of malformations affecting the
genitourinary system, anterior abdominal wall, and pelvis. Historically, surgical outcomes …

Roles for urothelium in normal and aberrant urinary tract development

AR Jackson, CB Ching, KM McHugh… - Nature Reviews …, 2020 - nature.com
Congenital anomalies of the kidney and urinary tract (CAKUTs) represent the leading cause
of chronic kidney disease and end-stage kidney disease in children. Increasing evidence …

Genome-wide Association Study and Meta-Analysis Identify ISL1 as Genome-wide Significant Susceptibility Gene for Bladder Exstrophy

M Draaken, M Knapp, T Pennimpede, JM Schmidt… - PLoS …, 2015 - journals.plos.org
The bladder exstrophy-epispadias complex (BEEC) represents the severe end of the uro-
rectal malformation spectrum, and is thought to result from aberrant embryonic …

Cytokeratin 15 marks basal epithelia in developing ureters and is upregulated in a subset of urothelial cell carcinomas

G Tai, P Ranjzad, F Marriage, S Rehman, H Denley… - PLoS …, 2013 - journals.plos.org
The mammalian ureter contains a water-tight epithelium surrounded by smooth muscle. Key
molecules have been defined which regulate ureteric bud initiation and drive the …

ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development

R Zhang, M Knapp, K Suzuki, D Kajioka, JM Schmidt… - Scientific reports, 2017 - nature.com
Previously genome-wide association methods in patients with classic bladder exstrophy
(CBE) found association with ISL1, a master control gene expressed in pericloacal …

[HTML][HTML] Pathophysiology of Congenital Anomalies of the Kidney and Urinary Tract: A Comprehensive Review

M Brockwell, S Hergenrother, M Satariano, R Shah… - Cells, 2024 - mdpi.com
Congenital anomalies of the kidney and urinary tract (CAKUT) represent a broad range of
diseases with differing mechanisms, clinical presentations, and prognoses. With an …

Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible …

H Reutter, M Draaken, T Pennimpede… - Human molecular …, 2014 - academic.oup.com
Bladder exstrophy-epispadias complex (BEEC), the severe end of the urorectal
malformation spectrum, has a profound impact on continence as well as sexual and renal …

Genetics of bladder-exstrophy-epispadias complex (BEEC): systematic elucidation of mendelian and multifactorial phenotypes

H Reutter, K Keppler-Noreuil, CE Keegan… - Current …, 2016 - ingentaconnect.com
The Bladder-Exstrophy-Epispadias Complex (BEEC) represents the severe end of the
urorectal malformation spectrum, and has a profound impact on continence, and on sexual …

The genomic architecture of bladder exstrophy epispadias complex

GM Beaman, RM Cervellione, D Keene, H Reutter… - Genes, 2021 - mdpi.com
The bladder exstrophy–epispadias complex (BEEC) is an abdominal midline malformation
comprising a spectrum of congenital genitourinary abnormalities of the abdominal wall …