Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria (Q28270419)

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Language	Label	Description	Also known as
English	Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria	scientific article

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instance of

scholarly article

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title

Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria (English)

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author

Peter Nürnberg

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6

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Gudrun Nürnberg

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3

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Christina Zeitz

object named as

Christina Zeitz

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5

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author name string

Barbara Kloeckener-Gruissem

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1

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Kristof Vandekerckhove

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2

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John Neidhardt

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4

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Isaak Schipper

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7

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Wolfgang Berger

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8

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language of work or name

English

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publication date

March 2008

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published in

American Journal of Human Genetics

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volume

82

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issue

3

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page(s)

772-9

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cites work

CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427214

retrieved

20 March 2017

The PITX3 gene in posterior polar congenital cataract in Australia

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427214

retrieved

20 March 2017

Molecular Analysis of the SGLT2 Gene in Patients with Renal Glucosuria

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427214

retrieved

20 March 2017

The SLC16 gene family?from monocarboxylate transporters (MCTs) to aromatic amino acid transporters and beyond

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427214

retrieved

20 March 2017

Polarized expression of monocarboxylate transporters in human retinal pigment epithelium and ARPE-19 cells

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427214

retrieved

20 March 2017

The proton-linked monocarboxylate transporter (MCT) family: structure, function and regulation

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427214

retrieved

20 March 2017

A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427214

retrieved

20 March 2017

The PredictProtein server

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427214

retrieved

7 April 2017

Allegro, a new computer program for multipoint linkage analysis

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427214

retrieved

7 April 2017

Growth of the human eye lens

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427214

retrieved

29 September 2017

Genetic origins of cataract

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427214

retrieved

29 September 2017

Mechanisms regulating tissue-specific polarity of monocarboxylate transporters and their chaperone CD147 in kidney and retinal epithelia

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427214

retrieved

29 September 2017

Interaction with collagen IV protects lens epithelial cells from Fas-dependent apoptosis by stimulating the production of soluble survival factors

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427214

retrieved

29 September 2017

Nonsense-mediated decay approaches the clinic

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427214

retrieved

29 September 2017

Status of glucose transporters in the mammalian kidney and renal development

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427214

retrieved

29 September 2017

The heritability of age-related cortical cataract: the twin eye study.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427214

retrieved

29 September 2017

The genetics of childhood cataract

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427214

retrieved

29 September 2017

Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427214

retrieved

27 November 2018

Identification and characterization of a novel RPGR isoform in human retina

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427214

retrieved

27 November 2018

[Juvenile cataract associated with microcornea and glucosuria: a new syndrome]

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427214

retrieved

27 November 2018

Identifiers

DOI

10.1016/J.AJHG.2007.12.013

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PMC publication ID

2427214

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PubMed publication ID

18304496

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ResearchGate publication ID

5548968

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