(Q44240406)

1 December 2017

title

Deleterious nonsynonymous single nucleotide polymorphisms in human solute carriers: the first comparison of three prediction methods (English)

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single-nucleotide polymorphism

1 December 2017

main subject

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Da-Cheng Hao

1

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1 December 2017

Bing Xiao

2

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1 December 2017

Ying Xiang

3

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1 December 2017

Xue-Wei Dong

4

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1 December 2017

Pei-Gen Xiao

5

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1 December 2017

publication date

4 May 2012

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European Journal of Drug Metabolism and Pharmacokinetics

1 December 2017

published in

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1 December 2017

volume

38

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1 December 2017

issue

1

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1 December 2017

page(s)

53-62

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Tyrosine residues affecting sodium stimulation of carnitine transport in the OCTN2 carnitine/organic cation transporter

1 December 2017

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Functional Domains in the Carnitine Transporter OCTN2, Defective in Primary Carnitine Deficiency

21 January 2018

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Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes

21 January 2018

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SNAP: predict effect of non-synonymous polymorphisms on function

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Drug transporters in drug efficacy and toxicity

21 January 2018

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Non-neutral nonsynonymous single nucleotide polymorphisms in human ABC transporters: the first comparison of six prediction methods.

21 January 2018

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Analysis and update of the human solute carrier (SLC) gene superfamily

21 January 2018

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Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy

21 January 2018

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Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea

21 January 2018

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The solute carrier families have a remarkably long evolutionary history with the majority of the human families present before divergence of Bilaterian species

21 January 2018

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Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan

21 January 2018

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Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.

21 January 2018

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Intracellular accumulation of efavirenz and nevirapine is independent of P-glycoprotein activity in cultured CD4 T cells and primary human lymphocytes

21 January 2018

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Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy

21 January 2018

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Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.

21 January 2018

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Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains

21 January 2018

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Xenobiotic, bile acid, and cholesterol transporters: function and regulation.

21 January 2018

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A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria

21 January 2018

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Mortality in HIV infection is independently predicted by host iron status and SLC11A1 and HP genotypes, with new evidence of a gene-nutrient interaction

21 January 2018

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Drug uptake transporters in antiretroviral therapy

21 January 2018

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

21 January 2018

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SIFT: Predicting amino acid changes that affect protein function

21 January 2018

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Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA

21 January 2018

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Human non-synonymous SNPs: server and survey

21 January 2018

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PSIC: profile extraction from sequence alignments with position-specific counts of independent observations.

21 January 2018

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Impaired trafficking and intracellular retention of mutant kidney anion exchanger 1 proteins (G701D and A858D) associated with distal renal tubular acidosis

21 January 2018

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A bioinformatics approach for the phenotype prediction of nonsynonymous single nucleotide polymorphisms in human cytochromes P450.

21 January 2018

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Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS13318-012-0095-8

Substitution at Pro385 of GLUT1 perturbs the glucose transport function by reducing conformational flexibility

21 January 2018

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12 December 2020

Site-directed mutagenesis of GLUT1 in helix 7 residue 282 results in perturbation of exofacial ligand binding

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12 December 2020

Ethnicity-dependent polymorphism in Na+-taurocholate cotransporting polypeptide (SLC10A1) reveals a domain critical for bile acid substrate recognition

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12 December 2020

Congenital hereditary endothelial dystrophy - mutation analysis of SLC4A11 and genotype-phenotype correlation in a North Indian patient cohort.

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12 December 2020

The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia

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12 December 2020

Human anion exchanger1 mutations and distal renal tubular acidosis.

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12 December 2020

Phenotype prediction of nonsynonymous single nucleotide polymorphisms in human phase II drug/xenobiotic metabolizing enzymes: perspectives on molecular evolution

1 reference

12 December 2020

10.1007/S13318-012-0095-8

Identifiers

DOI

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1 December 2017

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