HSPA6 : A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum-Reference-Cited by-同舟云学术

HSPA6 : A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum

Published:2019-03-18 Issue:10 Volume:111 Page:591-597
ISSN:2472-1727
Container-title:Birth Defects Research
language:en
Short-container-title:Birth Defects Research

Author:

Kause Franziska¹^ORCID,Zhang Rong¹²,Ludwig Michael³,Schmiedeke Eberhard⁴,Rissmann Anke⁵,Thiele Holger⁶,Altmueller Janine⁶⁷,Herms Stefan²⁸⁹,Hilger Alina C.¹¹⁰,Hildebrandt Friedhelm¹¹,Reutter Heiko¹¹²^ORCID

Affiliation:

1. Institute of Human Genetics, University of Bonn Bonn Germany

2. Department of GenomicsLife & Brain Center Bonn Germany

3. Department of Clinical Chemistry and Clinical PharmacologyUniversity of Bonn Bonn Germany

4. Clinic for Paediatric Surgery and Paediatric UrologyKlinikum Bremen‐Mitte Bremen Germany

5. Malformation Monitoring Centre Saxony‐Anhalt, Medical FacultyOtto‐von‐Guericke University Magdeburg Germany

6. Cologne Center for GenomicsUniversity of Cologne Cologne Germany

7. Center for Molecular Medicine Cologne (CMMC)University of Cologne Cologne Germany

8. Institute of Medical Genetics and Pathology, University Hospital Basel Basel Switzerland

9. Department of Biomedicine, Human Genomics Research GroupUniversity of Basel Basel Switzerland

10. Children's HospitalUniversity of Bonn Bonn Germany

11. Division of NephrologyBoston Children's Hospital, HMS Boston Massachusetts

12. Department of Neonatology and Pediatric Intensive CareChildren's Hospital, University of Bonn Bonn Germany

Funder

Deutsche Forschungsgemeinschaft

National Institutes of Health

Publisher

Wiley

Subject

Health, Toxicology and Mutagenesis,Developmental Biology,Toxicology,Embryology,Pediatrics, Perinatology, and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/bdr2.1493

Reference34 articles.

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

2. De novo Partial Trisomy 18p and Partial Monosomy 18q in a Patient with Anorectal Malformation

3. Inheritance of the VATER/VACTERL association

4. Heat-shock protein 70 inhibits apoptosis by preventing recruitment of procaspase-9 to the Apaf-1 apoptosome

5. Involvement of the HLXB9 Homeobox Gene in Currarino Syndrome

Cited by 17 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. CLINICAL CASE OF MANAGING A PATIENT WITH VACTERL ASSOCIATION;Themed collection of papers from Foreign international scientific conference «Joint innovation - joint development» (Part 3. Biology, medicine, sports) by HNRI «National development» in cooperation with PS of UA. May 2024. - Harbin (China);2024-09-04

2. Spatial transcriptomics reveals gene interactions and signaling pathway dynamics in rat embryos with anorectal malformation;Cell Biology and Toxicology;2024-05-21

3. A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1;Pediatric Research;2023-12-22

4. Substantial incidence of bladder dysfunction in patients with VACTERL association: Implications for surveillance;American Journal of Medical Genetics Part A;2023-10-12

5. ROR2 deficit may induce the tetralogy of Fallot via down‐regulating of β‐catenin/SOX3/HSPA6 in vitro and in vivo;Journal of Cellular and Molecular Medicine;2023-09-25