(Q50211745)

http://europepmc.org/abstract/MED/28373276

27 February 2018

title

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. (English)

1 reference

http://europepmc.org/abstract/MED/28373276

27 February 2018

1 reference

polycystic kidney disease

1 reference

hyperinsulinemic hypoglycemia

inferred from title

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Peter M Jones

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Neil J. Sebire

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Sarah Flanagan

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Hana Lango Allen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Chris Cheshire

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Julian Hamilton-Shield

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Daniela Iancu

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Matthew B Johnson

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Mehmet Tekman

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Michael N Weedon

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Sian Ellard

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

43

Robert Kleta

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

46

Detlef Bockenhauer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

3

Horia Stanescu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

24

Enriko Klootwijk

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

37

Peter D Turnpenny

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

1

Oscar Rubio Cabezas

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

author name string

Elena García-Martínez

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Montserrat Antón-Gamero

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Jesús Argente

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Anna-Marie Bussell

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Andre Brandli

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Elizabeth Crowne

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Simona Dumitriu

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Robert Drynda

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Wesley Hayes

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Alexis Hofherr

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Naomi Issler

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Craig Jefferies

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Anne Kesselheim

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Michael Koettgen

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Wendy Lewis

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

José María Martos

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Monika Mozere

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Jill Norman

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Vaksha Patel

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Andrew Parrish

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Celia Pérez-Cerdá

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Jesús Pozo

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Sofia A Rahman

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

William Van't Hoff

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Daan H H M Viering

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Patricia Wilson

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Lisa Guay-Woodford

42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Khalid Hussain

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

publication date

3 April 2017

1 reference

http://europepmc.org/abstract/MED/28373276

27 February 2018

published in

Journal of the American Society of Nephrology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

volume

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

page(s)

2529-2539

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease

4 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

The 3D Genome as Moderator of Chromosomal Communication

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

Mango: a bias-correcting ChIA-PET analysis pipeline

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

ZNF143 provides sequence specificity to secure chromatin interactions at gene promoters

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

A 3D map of the human genome at kilobase resolution reveals principles of chromatin looping

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

Convergent evolution of complex regulatory landscapes and pleiotropy at Hox loci.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

Genome-wide map of regulatory interactions in the human genome

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

Aberrant glycosylation and localization of polycystin-1 cause polycystic kidney in an AQP11 knockout model

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

N-glycosylation determines the abundance of the transient receptor potential channel TRPP2

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

The puzzle of TRPV4 channelopathies

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

The CaMK4/CREB/IRS-2 cascade stimulates proliferation and inhibits apoptosis of β-cells

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

Topological domains in mammalian genomes identified by analysis of chromatin interactions

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

Genetics of congenital hyperinsulinemic hypoglycemia

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

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

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

Congenital disorders of glycosylation in hepatology: the example of polycystic liver disease

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

Liver disease in autosomal recessive polycystic kidney disease

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

Dent Disease with mutations in OCRL1

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

Membrane targeting of ATP-sensitive potassium channel. Effects of glycosylation on surface expression

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

Human hepatocyte nuclear factor 4 isoforms are encoded by distinct and differentially expressed genes

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

Pancreatic beta cell line MIN6 exhibits characteristics of glucose metabolism and glucose-stimulated insulin secretion similar to those of normal islets

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

Inherited syndrome of infantile olivopontocerebellar atrophy, micronodular cirrhosis, and renal tubular microcysts: review of the literature and a report of an additional case

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

A gel electrophoresis method for quantifying the binding of proteins to specific DNA regions: application to components of the Escherichia coli lactose operon regulatory system

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

Protein phosphorylation in electrically permeabilized islets of Langerhans. Effects of Ca2+, cyclic AMP, a phorbol ester and noradrenaline

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533241

Renal cysts in the carbohydrate-deficient glycoprotein syndrome

26 August 2018

1 reference

12 December 2020

Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening

1 reference

12 December 2020

Acidic FGF regulation of hyperproliferation of fibroblasts in human autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes

1 reference

12 December 2020

Identifiers

DOI

10.1681/ASN.2016121312

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28373276%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

1 reference