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Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss.
- Published in:
- eLife, 2018, p. 1, doi. 10.7554/eLife.31511
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- Article
Choroid plexus LAT2 and SNAT3 as partners in CSF amino acid homeostasis maintenance.
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- Fluids & Barriers of the CNS, 2020, v. 17, n. 1, p. 1, doi. 10.1186/s12987-020-0178-x
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- Article
Identification of small-molecule inhibitors of calcineurin-NFATc signaling that mimic the PxIxIT motif of calcineurin binding partners.
- Published in:
- Science Signaling, 2015, v. 8, n. 382, p. 1, doi. 10.1126/scisignal.2005918
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- Article
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b<sup>o,+</sup>AT) of rBAT.
- Published in:
- Nature Genetics, 1999, v. 23, n. 1, p. 52
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- Article
PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS IN A HIGHLY HETEROGENEOUS POPULATION.
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- Prenatal Diagnosis, 1996, v. 16, n. 3, p. 215, doi. 10.1002/(SICI)1097-0223(199603)16:3<215::AID-PD838>3.0.CO;2-7
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- Article
Digenic Inheritance in Cystinuria Mouse Model.
- Published in:
- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0137277
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- Publication type:
- Article
Cerebral Cortex Hyperthyroidism of Newborn Mct8-Deficient Mice Transiently Suppressed by Lat2 Inactivation.
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- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0096915
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- Article
Biochemical and molecular effects of chronic haloperidol administration on brain and muscle mitochondria of rats.
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- Journal of Neuroscience Research, 1998, v. 53, n. 4, p. 475, doi. 10.1002/(SICI)1097-4547(19980815)53:4<475::AID-JNR9>3.0.CO;2-3
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- Article
Metabonomics and population studies: age-related amino acids excretion and inferring networks through the study of urine samples in two Italian isolated populations.
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- Amino Acids, 2010, v. 38, n. 1, p. 65, doi. 10.1007/s00726-008-0205-8
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- Article
Clinical utility gene card for: Cystinuria.
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- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 1, doi. 10.1038/ejhg.2011.163
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- Article
Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 71, doi. 10.1038/ejhg.2008.145
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- Article
WFS1 mutations in Spanish patients with diabetes mellitus and deafness.
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- European Journal of Human Genetics, 2002, v. 10, n. 7, p. 421
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- Publication type:
- Article
ATB<sup>0</sup>/SLC1A5 gene. Fine localisation and exclusion of association with the intestinal phenotype of cystic fibrosis.
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- European Journal of Human Genetics, 2001, v. 9, n. 11, p. 860, doi. 10.1038/sj.ejhg.5200726
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- Article
Is mitochondrial DNA depletion involved in Alzheimer's disease?
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- European Journal of Human Genetics, 2001, v. 9, n. 4, p. 279
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- Article
Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility.
- Published in:
- BMC Genomics, 2008, v. 9, p. 1, doi. 10.1186/1471-2164-9-12
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- Article
Internet of Medical Things: An Effective and Fully Automatic IoT Approach Using Deep Learning and Fine-Tuning to Lung CT Segmentation.
- Published in:
- Sensors (14248220), 2020, v. 20, n. 23, p. 6711, doi. 10.3390/s20236711
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- Article
Regulation of ClC‐K/barttin by endocytosis influences distal convoluted tubule hyperplasia.
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- Journal of Physiology, 2024, v. 602, n. 17, p. 4291, doi. 10.1113/JP286729
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- Article
Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction.
- Published in:
- Nature Communications, 2014, v. 5, n. 3, p. 3475, doi. 10.1038/ncomms4475
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- Article
Fatores associados à insegurança alimentar e nutricional em comunidade carente.
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- Revista Brasileira em Promoção da Saúde, 2020, v. 33, p. 1, doi. 10.5020/18061230.2020.10415
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- Publication type:
- Article
RISCO CARDIOVASCULAR DE USUÁRIOS DE UM CENTRO DE ATENÇÃO PSICOSSOCIAL EM ÁLCOOL E DROGAS.
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- Revista Brasileira em Promoção da Saúde, 2019, v. 32, p. 1, doi. 10.5020/18061230.2019.8874
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- Publication type:
- Article
CONSUMO DE ULTRAPROCESSADOS E ESTADO NUTRICIONAL DE CRIANÇAS COM TRANSTORNO DO ESPECTRO DO AUTISMO.
- Published in:
- Revista Brasileira em Promoção da Saúde, 2018, v. 31, n. 3, p. 1, doi. 10.5020/18061230.2018.7986
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- Article
Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopathy proteins indicates that GlialCAM/MLC1 forms a functional unit.
- Published in:
- 2019
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- Publication type:
- journal article
EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome.
- Published in:
- BMC Pediatrics, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2431-13-130
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- Article
EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome.
- Published in:
- 2013
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- Publication type:
- journal article
Altered expression of 12S/MT-RNR1, MT-CO2/COX2, and MT-ATP6 mitochondrial genes in prostate cancer.
- Published in:
- Prostate, 2008, v. 68, n. 10, p. 1086, doi. 10.1002/pros.20771
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- Article
Aneuploidy of chromosome Y in prostate tumors and seminal vesicles: A possible sign of aging rather than an indicator of carcinogenesis?
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- Molecular Carcinogenesis, 2007, v. 46, n. 7, p. 543, doi. 10.1002/mc.20301
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- Article
S-Methyl-L-Ergothioneine to L-Ergothioneine Ratio in Urine Is a Marker of Cystine Lithiasis in a Cystinuria Mouse Model.
- Published in:
- Antioxidants, 2021, v. 10, n. 9, p. 1424, doi. 10.3390/antiox10091424
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- Article
EDUCAÇÃO ALIMENTAR E NUTRICIONAL: UMA ABORDAGEM LÚDICO-DIDÁTICA PARA CRIANÇAS DO ENSINO FUNDAMENTAL.
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- Revista Brasileira de Obesidade, Nutrição e Emagrecimento, 2024, v. 18, n. 112, p. 152
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- Article
PERCENTUAL DE GORDURA CORPORAL E FATORES ASSOCIADOS EM USUÁRIOS DE CENTRO DE ATENÇÃO PSICOSSOCIAL.
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- Revista Brasileira de Obesidade, Nutrição e Emagrecimento, 2023, v. 17, n. 108, p. 340
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- Article
Identification of the GlialCAM interactome: the G protein-coupled receptors GPRC5B and GPR37L1 modulate megalencephalic leukoencephalopathy proteins.
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- Human Molecular Genetics, 2021, v. 30, n. 17, p. 1649, doi. 10.1093/hmg/ddab155
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- Article
Depolarization causes the formation of a ternary complex between GlialCAM, MLC1 and ClC-2 in astrocytes: implications in megalencephalic leukoencephalopathy.
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- Human Molecular Genetics, 2017, v. 26, n. 13, p. 2436, doi. 10.1093/hmg/ddx134
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- Article
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.
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- Human Molecular Genetics, 2014, v. 23, n. 19, p. 5069, doi. 10.1093/hmg/ddu231
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- Article
Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4405, doi. 10.1093/hmg/ddt290
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- Article
Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts.
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- Human Molecular Genetics, 2011, v. 20, n. 16, p. 3266
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- Article
Suitability of oligonucleotide-mediated cystic fibrosis gene repair in airway epithelial cells.
- Published in:
- Journal of Gene Medicine, 2003, v. 5, n. 7, p. 625, doi. 10.1002/jgm.374
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- Article
Non-viral vector-mediated uptake, distribution, and stability of chimeraplasts in human airway epithelial cells.
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- Journal of Gene Medicine, 2002, v. 4, n. 3, p. 308, doi. 10.1002/jgm.264
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- Article
Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans.
- Published in:
- Frontiers in Physiology, 2019, p. N.PAG, doi. 10.3389/fphys.2019.00688
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- Article
First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS1 gene.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 10, p. 787, doi. 10.1002/pd.982
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- Article
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
- Published in:
- Human Mutation, 2017, v. 38, n. 7, p. 764, doi. 10.1002/humu.23233
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- Publication type:
- Article
Two Novel Mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients.
- Published in:
- Human Mutation, 2014, v. 35, n. 4, p. 470, doi. 10.1002/humu.22513
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- Article
Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1198171
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- Article
Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3728, doi. 10.1093/hmg/ddn269
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- Publication type:
- Article
Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 17, p. 2097, doi. 10.1093/hmg/ddg228
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- Article
Identification of SLC7A7, encoding y<sup>+</sup>LAT-1, as the lysinuric protein intolerance gene.
- Published in:
- Nature Genetics, 1999, v. 21, n. 3, p. 293, doi. 10.1038/6809
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- Publication type:
- Article
Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 24, p. 17140, doi. 10.3390/ijms242417140
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- Publication type:
- Article
Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescent multiplex PCR.
- Published in:
- Human Mutation, 2000, v. 15, n. 4, p. 373, doi. 10.1002/(SICI)1098-1004(200004)15:4<373::AID-HUMU10>3.0.CO;2-O
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- Article
Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.
- Published in:
- Human Mutation, 1998, v. 11, p. S99, doi. 10.1002/humu.1380110133
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- Article
Sporadic heteroplasmic single 5.5 Kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency.
- Published in:
- Human Mutation, 1997, v. 10, n. 3, p. 212, doi. 10.1002/(SICI)1098-1004(1997)10:3<212::AID-HUMU6>3.0.CO;2-K
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- Publication type:
- Article
Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G→A, and 3667de14).
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 223, doi. 10.1002/humu.1380030308
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- Article
Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients.
- Published in:
- Human Mutation, 1992, v. 1, n. 1, p. 75, doi. 10.1002/humu.1380010113
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- Article