Urinary tract effects of HPSE2 mutations (Q35228493)

7 August 2017

Urinary tract effects of HPSE2 mutations (English)

1 reference

7 August 2017

Neil A Roberts

2

0 references

Helen M. Stuart

Helen M Stuart

1

0 references

Emma N. Hilton

Emma N Hilton

3

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Natalie J Gardiner

Natalie J Gardiner

8

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Heather Lambert

Heather J Lambert

31

0 references

Christian Beetz

Christian Beetz

20

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William G. Newman

William G Newman

42

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Adrian S. Woolf

Adrian S Woolf

43

0 references

Anna Niemirska

1 reference

ORCID Public Data File 2021

Heather Cordell

Heather J Cordell

32

1 reference

ORCID Public Data File 2021

Judith A Goodship

29

Judith A Goodship

1 reference

7 August 2017

30

Timothy H J Goodship

1 reference

7 August 2017

26

Manuela Hunziker

1 reference

7 August 2017

27

Prem Puri

1 reference

7 August 2017

Edward A McKenzie

4

1 reference

7 August 2017

Sarah B Daly

5

1 reference

7 August 2017

Kristen D Hadfield

6

1 reference

7 August 2017

Jeffery S Rahal

7

1 reference

7 August 2017

Simon W Tanley

9

1 reference

7 August 2017

Malcolm A Lewis

10

1 reference

7 August 2017

Emily Sites

11

1 reference

7 August 2017

Brad Angle

12

1 reference

7 August 2017

Cláudia Alves

13

1 reference

7 August 2017

Teresa Lourenço

14

1 reference

7 August 2017

Márcia Rodrigues

15

1 reference

7 August 2017

Angelina Calado

16

1 reference

7 August 2017

Marta Amado

17

1 reference

7 August 2017

Nancy Guerreiro

18

1 reference

7 August 2017

Inês Serras

19

1 reference

7 August 2017

Rita-Eva Varga

21

1 reference

7 August 2017

Mesrur Selcuk Silay

22

1 reference

7 August 2017

John M Darlow

23

1 reference

7 August 2017

Mark G Dobson

24

1 reference

7 August 2017

David E Barton

25

1 reference

7 August 2017

Sally A Feather

28

1 reference

7 August 2017

UK VUR Study Group

33

1 reference

7 August 2017

Anand Saggar

34

1 reference

7 August 2017

Maria Kinali

35

1 reference

7 August 2017

4C Study Group

36

1 reference

7 August 2017

Christian Lorenz

37

1 reference

7 August 2017

Kristina Moeller

38

1 reference

7 August 2017

Franz Schaefer

39

1 reference

7 August 2017

Aysun K Bayazit

40

1 reference

7 August 2017

Stefanie Weber

41

1 reference

7 August 2017

21 August 2014

1 reference

Journal of the American Society of Nephrology

7 August 2017

1 reference

7 August 2017

26

1 reference

7 August 2017

797-804

1 reference

7 August 2017

4

1 reference

Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378092

A new genome scan for primary nonsyndromic vesicoureteric reflux emphasizes high genetic heterogeneity and shows linkage and association with various genes already implicated in urinary tract development.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378092

Lrig2-deficient mice are protected against PDGFB-induced glioma

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378092

LRIG2 mutations cause urofacial syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378092

A genome-wide screen to identify transcription factors expressed in pelvic Ganglia of the lower urinary tract

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378092

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378092

Mechanisms and principles of N-linked protein glycosylation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378092

Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378092

Neural control of the bladder: recent advances and neurologic implications

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378092

Heparanase 2 interacts with heparan sulfate with high affinity and inhibits heparanase activity

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378092

Mutations in HPSE2 cause urofacial syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378092

Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378092

Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378092

Heparanase: busy at the cell surface

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378092

Heparanase: a target for drug discovery in cancer and inflammation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378092

Ablation of mouse phosphomannose isomerase (Mpi) causes mannose 6-phosphate accumulation, toxicity, and embryonic lethality

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378092

Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378092

Smooth muscle differentiation and cell turnover in mouse detrusor development

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378092

Cloning and expression profiling of Hpa2, a novel mammalian heparanase family member

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378092

Twelve-year experience with Hinman-Allen syndrome at a single center

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378092

Heparanase enhances nerve-growth-factor-induced PC12 cell neuritogenesis via the p38 MAPK pathway.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378092

Transcriptional profiling of the megabladder mouse: a unique model of bladder dysmorphogenesis.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378092

Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378092

More than meets the smile: facial muscle expression in children with Ochoa syndrome

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25145936

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

First HPSE2 missense mutation in urofacial syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25145936

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Structural and functional characterization of bladder smooth muscle in fetal rats with retinoic acid-induced myelomeningocele

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25145936

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1681/ASN.2013090961

1 reference

7 August 2017

1 reference

7 August 2017

1 reference