(Q37342962)

19 August 2017

Upregulation of PKD1L2 provokes a complex neuromuscular disease in the mouse (English)

1 reference

19 August 2017

neuromuscular disease

1 reference

inferred from title

author

Thomas H. Gillingwater

object named as

Thomas Gillingwater

4

0 references

author name string

Francesca E Mackenzie

1

1 reference

19 August 2017

Rosario Romero

2

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19 August 2017

Debbie Williams

3

1 reference

19 August 2017

Helen Hilton

5

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19 August 2017

Jim Dick

6

1 reference

19 August 2017

Joanna Riddoch-Contreras

7

1 reference

19 August 2017

Frances Wong

8

1 reference

19 August 2017

Lisa Ireson

9

1 reference

19 August 2017

Nicola Powles-Glover

10

1 reference

19 August 2017

Genna Riley

11

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19 August 2017

Peter Underhill

12

1 reference

19 August 2017

Tertius Hough

13

1 reference

19 August 2017

Ruth Arkell

14

1 reference

19 August 2017

Linda Greensmith

15

1 reference

19 August 2017

Richard R Ribchester

16

1 reference

19 August 2017

Gonzalo Blanco

17

1 reference

19 August 2017

4 July 2009

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19 August 2017

Human Molecular Genetics

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19 August 2017

18

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19 August 2017

19

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19 August 2017

3553-3566

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A polycystin-1 controls postcopulatory reproductive selection in mice

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742400

Animal models for genetic neuromuscular diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742400

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742400

Transient receptor potential family members PKD1L3 and PKD2L1 form a candidate sour taste receptor

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742400

Dissecting the genetic complexity of human 6p deletion syndromes by using a region-specific, phenotype-driven mouse screen

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742400

Fatty acid synthesis is essential in embryonic development: fatty acid synthase null mutants and most of the heterozygotes die in utero

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742400

The kyphoscoliosis (ky) mouse is deficient in hypertrophic responses and is caused by a mutation in a novel muscle-specific protein

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742400

Animal models for muscular dystrophy: valuable tools for the development of therapies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742400

The dystrophin complex forms a mechanically strong link between the sarcolemma and costameric actin

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742400

Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742400

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742400

Fatty acid synthase, a proficient multifunctional enzyme

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742400

Polycystin-1L2 is a novel G-protein-binding protein

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742400

Regulation of lipid synthesis in cultured animal cells

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742400

6 Fatty acid synthase from rat liver

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742400

Fatty acid synthase gene expression in human adipose tissue: association with obesity and type 2 diabetes.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742400

Two members of the TRPP family of ion channels, Pkd1l3 and Pkd2l1, are co-expressed in a subset of taste receptor cells.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742400

Paradigms for the identification of new genes in motor neuron degeneration.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742400

The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742400

Acetyl-CoA Carboxylase Deficiency: An Inborn Error of de Novo Fatty Acid Synthesis

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742400

Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B

2 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDP304

Somatic inactivation of Pkd2 results in polycystic kidney disease

21 January 2018

1 reference

12 December 2020

TRP channels in disease

1 reference

12 December 2020

Identification of two novel polycystic kidney disease-1-like genes in human and mouse genomes

1 reference

12 December 2020

The neuromuscular basis of hereditary kyphoscoliosis in the mouse

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDP304

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

19578180

1 reference