Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13 - Wikidata - awgldk - TriplyDB

Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13

Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13

http://www.wikidata.org/entity/Q36719066

about

SLC39A5 mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways The Functions of Metallothionein and ZIP and ZnT Transporters: An Overview and Perspective ZIP8 zinc transporter: indispensable role for both multiple-organ organogenesis and hematopoiesis in utero ttm-1 encodes CDF transporters that excrete zinc from intestinal cells of C. elegans and act in a parallel negative feedback circuit that promotes homeostasis Roles of Zinc Signaling in the Immune System Zinc transporter SLC39A10/ZIP10 facilitates antiapoptotic signaling during early B-cell development Neurulation and neurite extension require the zinc transporter ZIP12 (slc39a12)Protein trafficking abnormalities in Drosophila tissues with impaired activity of the ZIP7 zinc transporter Catsup The metal transporter ZIP13 supplies iron into the secretory pathway in Drosophila melanogaster Molecular pathogenesis of spondylocheirodysplastic Ehlers-Danlos syndrome caused by mutant ZIP13 proteins.Physiological roles of zinc transporters: molecular and genetic importance in zinc homeostasis.High-throughput screening of mouse gene knockouts identifies established and novel skeletal phenotypes.Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta.Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family.Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness - A Diagnostic Challenge?Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndrome.Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII and variants - update 2012 Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.Functional role of intracellular labile zinc in pulmonary endothelium.Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) and the mutant zinc transporter ZIP13.Visceroptosis of the bowel in the hypermobility type of Ehlers-Danlos syndrome: presentation of a rare manifestation and review of the literature Transcriptional regulation of the Zrg17 zinc transporter of the yeast secretory pathway.Brittle cornea syndrome: recognition, molecular diagnosis and management A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene.Structural insights of ZIP4 extracellular domain critical for optimal zinc transport Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.Molecular and genetic features of zinc transporters in physiology and pathogenesis.The extracellular matrix of the dermis: flexible structures with dynamic functions.Zinc homeostasis and signaling in health and diseases: Zinc signaling.The Ehlers-Danlos syndrome, a disorder with many faces.Recessive osteogenesis imperfecta: clinical, radiological, and molecular findings.Zinc signal: a new player in osteobiology.The SLC39 family of zinc transporters.Current understanding of ZIP and ZnT zinc transporters in human health and diseases.Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.The Physiological, Biochemical, and Molecular Roles of Zinc Transporters in Zinc Homeostasis and Metabolism.The Ehlers-Danlos syndromes, rare types.Ehlers-Danlos syndrome, classical type.

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P2860

Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13

http://www.wikidata.org/entity/Q36719066

description

2008 nî lūn-bûn

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

@zh-tw

2008年论文

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2008年论文

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2008年论文

@zh-cn

name

Spondylocheiro dysplastic form ...... zinc transporter gene SLC39A13

@ast

Spondylocheiro dysplastic form ...... zinc transporter gene SLC39A13

@en

type

label

Spondylocheiro dysplastic form ...... zinc transporter gene SLC39A13

@ast

Spondylocheiro dysplastic form ...... zinc transporter gene SLC39A13

@en

prefLabel

Spondylocheiro dysplastic form ...... zinc transporter gene SLC39A13

@ast

Spondylocheiro dysplastic form ...... zinc transporter gene SLC39A13

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J.AJHG.2008.05.001

P1433

American Journal of Human Genetics

P1476

Spondylocheiro dysplastic form ...... zinc transporter gene SLC39A13

@en

P2093

Beat Steinmann

http://www.w3.org/2001/XMLSchema#string

Beate Albrecht

http://www.w3.org/2001/XMLSchema#string

Céline Chambaz

http://www.w3.org/2001/XMLSchema#string

David R Eyre

http://www.w3.org/2001/XMLSchema#string

Georg Eich

http://www.w3.org/2001/XMLSchema#string

Heather Yeowell

http://www.w3.org/2001/XMLSchema#string

Marius Kraenzlin

http://www.w3.org/2001/XMLSchema#string

MaryAnn Weis

http://www.w3.org/2001/XMLSchema#string

Nursel H Elçioglu

http://www.w3.org/2001/XMLSchema#string

P2860

Human placental sodium-dependent vitamin C transporter (SVCT2): molecular cloning and transport function

Structure-function analysis of HKE4, a member of the new LIV-1 subfamily of zinc transporters

The emerging role of the LIV-1 subfamily of zinc transporters in breast cancer

The LZT proteins; the LIV-1 subfamily of zinc transporters

CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta

Allegro, a new computer program for multipoint linkage analysis

Zinc is a novel intracellular second messenger

easyLINKAGE-Plus--automated linkage analyses using large-scale SNP data.

Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

The ZIP7 gene (Slc39a7) encodes a zinc transporter involved in zinc homeostasis of the Golgi apparatus.

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1290-1305

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scholarly article

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10.1016/J.AJHG.2008.05.001

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P407

P433

6

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P478

82

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Andreas Janecke

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2008-06-01T00:00:00Z

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5336663

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18513683

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P921

Ehlers-Danlos syndrome

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2427271

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