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Results for

""Sodium-Phosphate Cotransporter Proteins, Type IIa""[mesh_terms]

14 Results

Searching titles within these results

CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype.

Elisa De Paolis, Giovanni Luca Scaglione, Maria De Bonis, Angelo Minucci, Ettore Capoluongo

Clinical chemistry and laboratory medicine 2020;57(11):1650-1667

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High frequency of heterozygous rare variants of the SLC34A1 and SLC9A3R1 genes in patients with atypical femur fracture.

Francesca Marini, Francesca Giusti, Elena Marasco, Luciano Xumerle, Katarzyna Malgorzata Kwiatkowska, Paolo Garagnani, Emmanuel Biver, Serge Ferrari, Giovanni Iolascon, Teresa Iantomasi, Maria Luisa Brandi

European journal of endocrinology 2023;188(1):lvad001

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Understanding renal phosphate handling: unfinished business.

Eleanor Lederer

Current opinion in nephrology and hypertension 2023;32(4):394-400

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Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations.

Agnieszka Janiec, Paulina Halat-Wolska, Łukasz Obrycki, Elżbieta Ciara, Marek Wójcik, Paweł Płudowski, Aldona Wierzbicka, Ewa Kowalska, Janusz B Książyk, Zbigniew Kułaga, Ewa Pronicka, Mieczysław Litwin

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2021;36(8):1484-1492

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Analysis of vitamin D metabolites in survivors of infantile idiopathic hypercalcemia caused by CYP24A1 mutation or SLC34A1 mutation.

Ewa Kowalska, Rafał Rola, Marek Wójcik, Natalia Łaszcz, Paweł Płudowski, Aldona Wierzbicka, Agnieszka Janiec, Janusz Książyk, Paulina Halat, Elżbieta Ciara, Łukasz Obrycki, Ewa Pronicka, Mieczysław Litwin

The Journal of steroid biochemistry and molecular biology 2021;208():105824

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Canonical and Noncanonical Sites Determine NPT2A Binding Selectivity to NHERF1 PDZ1.

Tatyana Mamonova, Qiangmin Zhang, Jahan Ali Khajeh, Zimei Bu, Alessandro Bisello, Peter A Friedman

PloS one 2016;10(6):e0129554

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Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases.

Elżbieta Ciara, Marek Wójcik, Paweł Płudowski, Aldona Wierzbicka, Paulina Halat, Ewa Pronicka, Agnieszka Janiec, Elżbieta Rowińska, Dariusz Rokicki, Ewa Wojciechowska, Janusz B Książyk, Agnieszka Jacoszek, Martin Konrad, Karl P Schlingmann, Mieczysław Litwin

Journal of applied genetics 2017;58(3):349-353

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Genetics of common complex kidney stone disease: insights from genome-wide association studies.

Runolfur Palsson, Olafur S Indridason, Vidar O Edvardsson, Asmundur Oddsson

Urolithiasis 2019;47(1):11-21

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A Novel Heterozygous Mutation c.1627G>T (p.Gly543Cys) in the Gene in a Male Patient with Recurrent Nephrolithiasis and Early Onset Osteopenia: A Case Report.

Francesca Giusti, Francesca Marini, Hatim Al-Alwani, Elena Marasco, Paolo Garagnani, Aliya A Khan, Maria Luisa Brandi

International journal of molecular sciences 2023;24(24):17289

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Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.

Nina Lenherr-Taube, Edwin J Young, Michelle Furman, Yesmino Elia, Esther Assor, David Chitayat, Tami Uster, Susan Kirwin, Katherine Robbins, Kathleen M B Vinette, Alan Daneman, Christian R Marshall, Carol Collins, Kenneth Thummel, Etienne Sochett, Michael A Levine

The Journal of clinical endocrinology and metabolism 2021;106(10):2915-2937

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Noncanonical Sequences Involving NHERF1 Interaction with NPT2A Govern Hormone-Regulated Phosphate Transport: Binding Outside the Box.

Tatyana Mamonova, Peter A Friedman

International journal of molecular sciences 2021;22(3):

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Genetic Variants Associated with Circulating Fibroblast Growth Factor 23.

Cassianne Robinson-Cohen, Traci M Bartz, Dongbing Lai, T Alp Ikizler, Munro Peacock, Erik A Imel, Erin D Michos, Tatiana M Foroud, Kristina Akesson, Kent D Taylor, Linnea Malmgren, Kunihiro Matsushita, Maria Nethander, Joel Eriksson, Claes Ohlsson, Daniel Mellström, Myles Wolf, Osten Ljunggren, Fiona McGuigan, Jerome I Rotter, Magnus Karlsson, Michael J Econs, Joachim H Ix, Pamela L Lutsey, Bruce M Psaty, Ian H de Boer, Bryan R Kestenbaum

Journal of the American Society of Nephrology : JASN 2019;29(10):2583-2592

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Common genetic variants associate with serum phosphorus concentration.

Bryan Kestenbaum, Nicole L Glazer, Anna Köttgen, Janine F Felix, Shih-Jen Hwang, Yongmei Liu, Kurt Lohman, Stephen B Kritchevsky, Dorothy B Hausman, Ann-Kristin Petersen, Christian Gieger, Janina S Ried, Thomas Meitinger, Tim M Strom, H Erich Wichmann, Harry Campbell, Caroline Hayward, Igor Rudan, Ian H de Boer, Bruce M Psaty, Kenneth M Rice, Yii-Der Ida Chen, Man Li, Dan E Arking, Eric Boerwinkle, Josef Coresh, Qiong Yang, Daniel Levy, Frank J A van Rooij, Abbas Dehghan, Fernando Rivadeneira, André G Uitterlinden, Albert Hofman, Cornelia M van Duijn, Michael G Shlipak, W H Linda Kao, Jacqueline C M Witteman, David S Siscovick, Caroline S Fox

Journal of the American Society of Nephrology : JASN 2010;21(7):1223-32

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Idiopathic calcium nephrolithiasis: a review of pathogenic mechanisms in the light of genetic studies.

Alessandra Mingione, Giuseppe Vezzoli, Laura Soldati, Teresa Arcidiacono, Lorenza Macrina, Francesca Pivari

American journal of nephrology 2015;40(6):499-506

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Results for ""Sodium-Phosphate Cotransporter Proteins, Type IIa""[mesh_terms]

CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype.

High frequency of heterozygous rare variants of the SLC34A1 and SLC9A3R1 genes in patients with atypical femur fracture.

Understanding renal phosphate handling: unfinished business.

Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations.

Analysis of vitamin D metabolites in survivors of infantile idiopathic hypercalcemia caused by CYP24A1 mutation or SLC34A1 mutation.

Canonical and Noncanonical Sites Determine NPT2A Binding Selectivity to NHERF1 PDZ1.

Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases.

Genetics of common complex kidney stone disease: insights from genome-wide association studies.

A Novel Heterozygous Mutation c.1627G>T (p.Gly543Cys) in the Gene in a Male Patient with Recurrent Nephrolithiasis and Early Onset Osteopenia: A Case Report.

Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.

Noncanonical Sequences Involving NHERF1 Interaction with NPT2A Govern Hormone-Regulated Phosphate Transport: Binding Outside the Box.

Genetic Variants Associated with Circulating Fibroblast Growth Factor 23.

Common genetic variants associate with serum phosphorus concentration.

Idiopathic calcium nephrolithiasis: a review of pathogenic mechanisms in the light of genetic studies.

Results for

""Sodium-Phosphate Cotransporter Proteins, Type IIa""[mesh_terms]