Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD)-Reference-Cited by-同舟云学术

Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD)

Published:2021-04-03 Issue:12 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Islam Sumaya¹,Tekman Mehmet¹,Flanagan Sarah E.²^ORCID,Guay‐Woodford Lisa³,Hussain Khalid⁴^ORCID,Ellard Sian²,Kleta Robert¹⁵^ORCID,Bockenhauer Detlef¹⁵^ORCID,Stanescu Horia¹,Iancu Daniela¹

Affiliation:

1. Department Renal Medicine University College London London UK

2. Institute of Biomedical and Clinical Science University of Exeter Medical School Exeter UK

3. Center for Translational Research Children’s National Hospital Health System Washington DC USA

4. Department of Endocrinology Sidra Medicine Doha Qatar

5. Great Ormond Street Hospital for ChildrenNHS Foundation Trust London UK

Funder

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1674

Reference19 articles.

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2. Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2

3. Genome-wide evidence for an essential role of the human Staf/ZNF143 transcription factor in bidirectional transcription

4. Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, andKCNJ10Mutations

5. Burton H.(1979).The Arrival of the Celts in Ireland. Expedition Magazine 21.3. Penn Museum 1979 Web.16–22.

Cited by 2 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. Phosphomannomutase 2 hyperinsulinemia: Recent advances of genetic pathogenesis, diagnosis, and management;Frontiers in Endocrinology;2023-01-16

2. Hyperinsulinemic Hypoglycemia Due to PMM2 Mutation in Two Siblings with Autosomal Recessive Polycystic Kidney Disease;Pediatric Reports;2022-10-24