PMC Links for Nucleotide (Select 1746275789) - PMC

Select item 63999261.

Analysis of LPI-causing mutations on y+LAT1 function and localization

Bianca Maria Rotoli, Amelia Barilli, Filippo Ingoglia, Rossana Visigalli, Massimiliano G. Bianchi, Francesca Ferrari, Diego Martinelli, Carlo Dionisi-Vici, Valeria Dall’Asta

Orphanet J Rare Dis. 2019; 14: 63. Published online 2019 Mar 4. doi: 10.1186/s13023-019-1028-2

PMCID:: PMC6399926

Abstract Article PDF–1.9M

Select item 58683222.

Downregulation of SLC7A7 Triggers an Inflammatory Phenotype in Human Macrophages and Airway Epithelial Cells

Bianca Maria Rotoli, Amelia Barilli, Rossana Visigalli, Filippo Ingoglia, Marco Milioli, Maria Di Lascia, Benedetta Riccardi, Paola Puccini, Valeria Dall’Asta

Front Immunol. 2018; 9: 508. Published online 2018 Mar 19. doi: 10.3389/fimmu.2018.00508

PMCID:: PMC5868322

Abstract Article PDF–2.7M

Select item 58330463.

Identification of placental nutrient transporters associated with intrauterine growth restriction and pre-eclampsia

Xiao Huang, Pascale Anderle, Lu Hostettler, Marc U. Baumann, Daniel V. Surbek, Edgar C. Ontsouka, Christiane Albrecht

BMC Genomics. 2018; 19: 173. Published online 2018 Mar 2. doi: 10.1186/s12864-018-4518-z

PMCID:: PMC5833046

Abstract Article PDF–1.7M

Select item 17161314.

Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14.

T Lauteala, P Sistonen, M L Savontaus, J Mykkänen, J Simell, M Lukkarinen, O Simell, P Aula

Am J Hum Genet. 1997 Jun; 60(6): 1479–1486. doi: 10.1086/515457

PMCID:: PMC1716131

Summary Page Browse PDF–1.4M

Select item 12883525.

Structure of the SLC7A7 Gene and Mutational Analysis of Patients Affected by Lysinuric Protein Intolerance

Maria Pia Sperandeo, Maria Teresa Bassi, Mirko Riboni, Giancarlo Parenti, Anna Buoninconti, Marta Manzoni, Barbara Incerti, Maria Rosaria Larocca, Maja Di Rocco, Pietro Strisciuglio, Irma Dianzani, Rossella Parini, Miranda Candito, Fumio Endo, Andrea Ballabio, Generoso Andria, Gianfranco Sebastio, Giuseppe Borsani

Am J Hum Genet. 2000 Jan; 66(1): 92–99. Published online 1999 Dec 20. doi: 10.1086/302700

PMCID:: PMC1288352

Abstract Article PDF–223K

Select item 11711016.

Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family.

R Pfeiffer, G Rossier, B Spindler, C Meier, L Kühn, F Verrey

EMBO J. 1999 Jan 4; 18(1): 49–57. doi: 10.1093/emboj/18.1.49

PMCID:: PMC1171101

Summary PDF–580K

Select item 50111107.

A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening

Kyoung-Jin Park, Seungman Park, Eunhee Lee, Jong-Ho Park, June-Hee Park, Hyung-Doo Park, Soo-Youn Lee, Jong-Won Kim

Ann Lab Med. 2016 Nov; 36(6): 561–572. Published online 2016 Aug 24. doi: 10.3343/alm.2016.36.6.561

PMCID:: PMC5011110

Abstract Article PDF–344K

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