The Genomic Architecture of Bladder Exstrophy Epispadias Complex.

Bladder Exstrophy / genetics Epispadias / genetics Female Genetic Predisposition to Disease Genome-Wide Association Study Humans Male
BEEC bladder exstrophy cloacal exstrophy epispadias

Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
28 07 2021
Historique:
received: 29 06 2021
accepted: 21 07 2021
entrez: 27 8 2021
pubmed: 28 8 2021
medline: 10 2 2022
Statut: epublish

Résumé

The bladder exstrophy-epispadias complex (BEEC) is an abdominal midline malformation comprising a spectrum of congenital genitourinary abnormalities of the abdominal wall, pelvis, urinary tract, genitalia, anus, and spine. The vast majority of BEEC cases are classified as non-syndromic and the etiology of this malformation is still unknown. This review presents the current knowledge on this multifactorial disorder, including phenotypic and anatomical characterization, epidemiology, proposed developmental mechanisms, existing animal models, and implicated genetic and environmental components.

Identifiants

DOI: 10.3390/genes12081149 PMID: 34440323 PMC: PMC8391660
pubmed: 34440323
pii: genes12081149
doi: 10.3390/genes12081149
pmc: PMC8391660
pii:
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't Review

Langues

eng

Sous-ensembles de citation

IM

Références

Am J Med Genet. 1993 Mar 15;45(6):761-3
pubmed: 8456857
Am J Med Genet A. 2004 Apr 30;126A(3):303-7
pubmed: 15054847
Mol Genet Genomic Med. 2019 Jun;7(6):e666
pubmed: 31044557
J Pediatr Surg. 2017 May;52(5):807-809
pubmed: 28202184
Proc Natl Acad Sci U S A. 2011 May 31;108(22):9137-42
pubmed: 21576458
Eur J Pediatr Surg. 2014 Aug;24(4):353-9
pubmed: 23801353
Front Cell Dev Biol. 2020 Aug 07;8:567
pubmed: 32850778
Dev Cell. 2011 Oct 18;21(4):627-41
pubmed: 21982646
Genomics. 1998 Aug 15;52(1):101-6
pubmed: 9740677
Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):333-43
pubmed: 22002951
Sci Rep. 2017 Feb 08;7:42170
pubmed: 28176844
Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):321-32
pubmed: 22002949
Genes Dev. 2005 Dec 1;19(23):2912-24
pubmed: 16322561
Urologe A. 2005 Sep;44(9):1037-8, 1040-4
pubmed: 15973548
Am J Med Genet. 1999 May 7;84(1):29-33
pubmed: 10213043
J Urol. 1997 Mar;157(3):1004-5
pubmed: 9072534
J Urol. 2004 Sep;172(3):1103-6, discussion 1106-7
pubmed: 15311049
Andrologia. 1975;7(3):237-9
pubmed: 1190515
Clin Dysmorphol. 1997 Oct;6(4):371-4
pubmed: 9354848
Indian J Pathol Microbiol. 2007 Apr;50(2):365-6
pubmed: 17883075
Hum Mol Genet. 2015 Sep 15;24(18):5069-78
pubmed: 26105184
Am J Med Genet. 2000 May 1;92(1):62-8
pubmed: 10797425
Am J Med Genet A. 2003 Jul 15;120A(2):215-21
pubmed: 12833402
J Urol. 2002 Jan;167(1):300-4
pubmed: 11743345
Eur J Med Genet. 2010 Mar-Apr;53(2):61-5
pubmed: 20045748
PLoS Genet. 2015 Mar 12;11(3):e1005024
pubmed: 25763902
Acta Genet Med Gemellol (Roma). 1989;38(3-4):285-99
pubmed: 2631499
J Pediatr Surg. 2001 Jan;36(1):68-75
pubmed: 11150440
Dev Cell. 2005 Aug;9(2):283-92
pubmed: 16054034
Birth Defects Res A Clin Mol Teratol. 2009 Jun;85(6):509-22
pubmed: 19161161
J Pediatr Urol. 2015 Dec;11(6):337.e1-6
pubmed: 26257027
Eur J Med Genet. 2012 Jan;55(1):43-8
pubmed: 22061479
Am J Med Genet A. 2005 Jun 1;135(2):224-6
pubmed: 15887303
Curr Genomics. 2016 Feb;17(1):4-13
pubmed: 27013921
Nature. 2005 Oct 27;437(7063):1376-80
pubmed: 16251968
J Urol. 2014 May;191(5 Suppl):1543-6
pubmed: 24679878
Am J Hum Genet. 2004 Mar;74(3):558-63
pubmed: 14872406
Am J Med Genet. 1984 Dec;19(4):721-7
pubmed: 6393766
Hum Mol Genet. 2014 Oct 15;23(20):5536-44
pubmed: 24852367
Pediatr Dev Pathol. 2005 May-Jun;8(3):339-54
pubmed: 16010492
Genomics. 2005 May;85(5):622-9
pubmed: 15820314
Birth Defects Res A Clin Mol Teratol. 2013 Dec;97(12):759-63
pubmed: 23913486
Arch Sex Behav. 2005 Aug;34(4):423-38
pubmed: 16010465
Eur J Med Genet. 2010 Mar-Apr;53(2):55-60
pubmed: 20060941
J Med Genet. 1994 Jun;31(6):490-2
pubmed: 8071977
Proc Natl Acad Sci U S A. 2017 May 9;114(19):4981-4986
pubmed: 28439006
Am J Med Genet A. 2019 Mar;179(3):404-409
pubmed: 30628148
J Pediatr Surg. 1988 Feb;23(2):166-70
pubmed: 3343652
Urology. 1981 Jan;17(1):73-4
pubmed: 7456202
Birth Defects Res A Clin Mol Teratol. 2013 Mar;97(3):133-9
pubmed: 23359465
Orphanet J Rare Dis. 2009 Oct 30;4:23
pubmed: 19878548
Birth Defects Res A Clin Mol Teratol. 2014 Jun;100(6):512-7
pubmed: 24764164
Am J Med Genet A. 2011 Jan;155A(1):38-49
pubmed: 21204209
J Med Genet. 1992 Oct;29(10):730-2
pubmed: 1433234
Pediatrics. 2008 Feb;121(2):404-10
pubmed: 18245432
PLoS Genet. 2012;8(12):e1003070
pubmed: 23284286
J Pediatr Surg. 1996 Jun;31(6):768-70
pubmed: 8783098
BJU Int. 2004 Dec;94(9):1337-43
pubmed: 15610117
Am J Med Genet A. 2007 Nov 15;143A(22):2751-6
pubmed: 17937426
Fetal Diagn Ther. 2009;25(3):343-5
pubmed: 19776599
J Urol. 1984 Aug;132(2):308-10
pubmed: 6737583
Am J Med Genet A. 2010 Feb;152A(2):504-11
pubmed: 20101692
Nat Neurosci. 2005 Jan;8(1):34-42
pubmed: 15608632
N Engl J Med. 2017 Feb 23;376(8):742-754
pubmed: 28121514
Science. 2007 Jun 15;316(5831):1619-22
pubmed: 17569865
Birth Defects Res A Clin Mol Teratol. 2010 Sep;88(9):757-61
pubmed: 20672349
Am J Med Genet. 2001 Apr 1;99(4):270
pubmed: 11251991
Nat Genet. 1997 Mar;15(3):266-8
pubmed: 9054938

Auteurs

Glenda M Beaman (GM)

Division of Evolution and Genomic Sciences, Faculty of Biology, School of Biological Sciences, Medicine and Health, University of Manchester, Manchester M13 9PL, UK.
Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.

Raimondo M Cervellione (RM)

Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.

David Keene (D)

Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.

Heiko Reutter (H)

Department of Neonatology and Paediatric Intensive Care, University Hospital Erlangen, 91054 Erlangen, Germany.

William G Newman (WG)

Division of Evolution and Genomic Sciences, Faculty of Biology, School of Biological Sciences, Medicine and Health, University of Manchester, Manchester M13 9PL, UK.
Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

Recherchemedicale.com › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations urogénitales › Exstrophie vésicale › The Genomic Architecture of Bladder Exstrophy...
Recherchemedicale.com › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations urogénitales › Épispadias › The Genomic Architecture of Bladder Exstrophy...
Recherchemedicale.com › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › The Genomic Architecture of Bladder Exstrophy...
Recherchemedicale.com › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Épidémiologie moléculaire › Étude d'association pangénomique › The Genomic Architecture of Bladder Exstrophy...
Recherchemedicale.com › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › The Genomic Architecture of Bladder Exstrophy...