(Q46066743)

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SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

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25 January 2020

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway (English)

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25 January 2020

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Annette Schenck

18

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25 January 2020

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25 January 2020

Hans van Bokhoven

14

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25 January 2020

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Raoul C M Hennekam

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25 January 2020

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Simon T Cliffe

1

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25 January 2020

Khalid Hussain

3

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25 January 2020

Joris H Robben

4

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25 January 2020

Eiko K de Jong

5

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25 January 2020

Arjan P de Brouwer

6

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25 January 2020

Esther Nibbeling

7

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25 January 2020

Erik-Jan Kamsteeg

8

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25 January 2020

Melanie Wong

9

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25 January 2020

Julie Prendiville

10

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25 January 2020

Chela James

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25 January 2020

Raja Padidela

12

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25 January 2020

Charlie Becknell

13

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25 January 2020

Peter M T Deen

15

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25 January 2020

Robert Lindeman

17

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25 January 2020

Tony Roscioli

19

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25 January 2020

Michael F Buckley

20

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25 January 2020

publication date

31 March 2009

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25 January 2020

Human Molecular Genetics

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25 January 2020

18

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25 January 2020

12

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25 January 2020

2257-2265

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25 January 2020

The emerging genetic architecture of type 2 diabetes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP161

21 January 2018

Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder?

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP161

21 January 2018

The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations.

1 reference

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21 January 2018

Genetic control of size in Drosophila

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP161

21 January 2018

An evolutionarily conserved function of the Drosophila insulin receptor and insulin-like peptides in growth control

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP161

21 January 2018

Nutrient-dependent expression of insulin-like peptides from neuroendocrine cells in the CNS contributes to growth regulation in Drosophila.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP161

21 January 2018

Drosophila's insulin/PI3-kinase pathway coordinates cellular metabolism with nutritional conditions.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP161

21 January 2018

Expression of Drosophila FOXO regulates growth and can phenocopy starvation

1 reference

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21 January 2018

High-resolution dynamics of the transcriptional response to nutrition in Drosophila: a key role for dFOXO.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP161

21 January 2018

The equilibrative nucleoside transporter family, SLC29

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP161

21 January 2018

Functional characterization of novel human and mouse equilibrative nucleoside transporters (hENT3 and mENT3) located in intracellular membranes

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21 January 2018

Amino acid difference formula to help explain protein evolution

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP161

21 January 2018

Predicting deleterious amino acid substitutions

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21 January 2018

A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L.

1 reference

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21 January 2018

Molecular evolution of the equilibrative nucleoside transporter family: identification of novel family members in prokaryotes and eukaryotes

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21 January 2018

A genome-wide transgenic RNAi library for conditional gene inactivation in Drosophila

1 reference

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21 January 2018

Raf acts downstream of the EGF receptor to determine dorsoventral polarity during Drosophila oogenesis.

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21 January 2018

The Drosophila LIM-homeo domain protein Islet antagonizes pro-neural cell specification in the peripheral nervous system

1 reference

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21 January 2018

PDK1 regulates growth through Akt and S6K in Drosophila

1 reference

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21 January 2018

Genomic analysis of nucleoside transporters in Diptera and functional characterization of DmENT2, a Drosophila equilibrative nucleoside transporter.

1 reference

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21 January 2018

Physiology of nucleoside transporters: back to the future. . . .

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21 January 2018

Facilitated mitochondrial import of antiviral and anticancer nucleoside drugs by human equilibrative nucleoside transporter-3.

1 reference

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21 January 2018

Drosophila S6 kinase: a regulator of cell size

1 reference

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21 January 2018

Notch signaling in the development of the inner ear: lessons from Drosophila

1 reference

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21 January 2018

Molecular mechanisms regulating hair follicle development

1 reference

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21 January 2018

A gain-of-function screen identifying genes required for vein formation in the Drosophila melanogaster wing

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21 January 2018

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

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21 January 2018

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

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21 January 2018

Prediction of human mRNA donor and acceptor sites from the DNA sequence.

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21 January 2018

Regulation of the vasopressin V2 receptor by vasopressin in polarized renal collecting duct cells

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21 January 2018

Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.

1 reference

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21 January 2018

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

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