Lysinuric protein intolerance: reviewing concepts on a multisystem disease (Q37838880)

24 August 2017

1 reference

title

Lysinuric protein intolerance: reviewing concepts on a multisystem disease (English)

1 reference

lysinuric protein intolerance

24 August 2017

1 reference

Gianfranco Sebastio

1

1 reference

PubMed ID

21308987

24 August 2017

Maria P Sperandeo

series ordinal

2

1 reference

PubMed ID

21308987

24 August 2017

Generoso Andria

series ordinal

3

1 reference

24 August 2017

9 February 2011

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American Journal of Medical Genetics Part C: Seminars in Medical Genetics

24 August 2017

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24 August 2017

157C

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24 August 2017

54-62

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24 August 2017

1

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Nitric oxide synthases: structure, function and inhibition

24 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

Cationic amino acid transport through system y+L in erythrocytes of patients with lysinuric protein intolerance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

Amino acid transport across mammalian intestinal and renal epithelia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

The heterodimeric amino acid transporter 4F2hc/y+LAT2 mediates arginine efflux in exchange with glutamine

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

Nitric oxide and apoptosis in mesangial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

Pathophysiology and treatment of cystinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

Structure and function of cationic amino acid transporters (CATs).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

[Lysinuric dibasic protein intolerance: characteristic aspects of bone marrow involvement]

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

L-arginine-induced experimental pancreatitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

Increased NO production in lysinuric protein intolerance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

Promoter analysis of the human SLC7A7 gene encoding y+L amino acid transporter-1 (y+LAT-1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

The cationic amino acid transporter 2 is induced in inflammatory lung models and regulates lung fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

The genetics of heteromeric amino acid transporters

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

Pulmonary manifestations in lysinuric protein intolerance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

L-arginine supplementation accelerates renal fibrosis and shortens life span in experimental lupus nephritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

Arginine transport in human erythroid cells: discrimination of CAT1 and 4F2hc/y+LAT2 roles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

Nephropathy advancing to end-stage renal disease: a novel complication of lysinuric protein intolerance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

Arginine transport via cationic amino acid transporter 2 plays a critical regulatory role in classical or alternative activation of macrophages

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

Progress of study on the relationship between mediators of inflammation and apoptosis in acute pancreatitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30287

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.30287

1 reference

24 August 2017

1 reference

PubMed ID

21308987