Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene-Reference-Cited by-同舟云学术

Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene

Published:2019-05 Issue:6 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Lundin Johanna¹²^ORCID,Markljung Ellen¹,Baranowska Körberg Izabella¹,Hofmeister Wolfgang³^ORCID,Cao Jia¹,Nilsson Daniel²³⁴,Holmdahl Gundela⁵,Barker Gillian⁶,Anderberg Magnus⁷,Vukojević Vladana⁸,Lindstrand Anna²³^ORCID,Nordenskjöld Agneta¹⁹

Affiliation:

1. Department of Women’s and Children’s Health Karolinska Institutet Stockholm Sweden

2. Department of Clinical Genetics Karolinska University Hospital Stockholm Sweden

3. Department of Molecular Medicine and Surgery Karolinska Institutet Stockholm Sweden

4. Science for Life Laboratory Karolinska Institutet Science Park Stockholm Sweden

5. Department of Pediatric Surgery Sahlgrenska Academy Gothenburg Sweden

6. Department of Women’s and Children’s Health Uppsala University Uppsala Sweden

7. Department of Pediatric Surgery University Hospital Lund Lund Sweden

8. Department of Clinical Neuroscience, Center for Molecular Medicine Karolinska Institutet Stockholm Sweden

9. Pediatric Surgery Astrid Lindgren Children Hospital, Karolinska University Hospital Stockholm Sweden

Funder

Vetenskapsrådet

Hjärnfonden

Stiftelsen Frimurare Barnhuset i Stockholm

Karolinska Institutet

Kommunfullmäktige, Stockholms Stad

Knut och Alice Wallenbergs Stiftelse

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.666

Reference45 articles.

1. A method and server for predicting damaging missense mutations

2. 1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features

3. Evaluation of the ISL1 gene in the pathogenesis of bladder exstrophy in a Swedish cohort

4. WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish

5. A Population-Based Study of the 22q11.2 Deletion: Phenotype, Incidence, and Contribution to Major Birth Defects in the Population

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1. Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation;Biomolecules;2023-07-13

2. Precision medicine and rare diseases in pediatric urology;Journal of Pediatric Urology;2023-06

3. Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy;American Journal of Medical Genetics Part A;2022-11-08

4. Narrowing the chromosome 22q11.2 locus duplicated in bladder exstrophy–epispadias complex;Journal of Pediatric Urology;2022-06

5. The Genomic Architecture of Bladder Exstrophy Epispadias Complex;Genes;2021-07-28