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Select item 60107301.

Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations

Amy Fearn, Benjamin Allison, Sarah J. Rice, Noel Edwards, Jan Halbritter, Soline Bourgeois, Eva M. Pastor‐Arroyo, Friedhelm Hildebrandt, Velibor Tasic, Carsten A. Wagner, Nati Hernando, John A. Sayer, Andreas Werner

Physiol Rep. 2018 Jun; 6(12): e13715. Published online 2018 Jun 19. doi: 10.14814/phy2.13715

PMCID:: PMC6010730

Article PDF–1.5M

Select item 42234462.

Exome Sequencing Identifies a Novel Homozygous Mutation in the Phosphate Transporter SLC34A1 in Hypophosphatemia and Nephrocalcinosis

Abbhirami Rajagopal, Débora Braslavsky, James T. Lu, Soledad Kleppe, Florencia Clément, Hamilton Cassinelli, David S. Liu, Jose Miguel Liern, Graciela Vallejo, Ignacio Bergadá, Richard A. Gibbs, Phillipe M. Campeau, Brendan H. Lee

J Clin Endocrinol Metab. 2014 Nov; 99(11): E2451–E2456. Published online 2014 Jul 22. doi: 10.1210/jc.2014-1517

PMCID:: PMC4223446

Article

Select item 22339993.

Structure–Function Relations of the First and Fourth Predicted Extracellular Linkers of the Type IIa Na⁺/P_i Cotransporter: I. Cysteine Scanning Mutagenesis

Colin Ehnes, Ian C. Forster, Katja Kohler, Andrea Bacconi, Gerti Stange, Jürg Biber, Heini Murer

J Gen Physiol. 2004 Nov; 124(5): 475–488. doi: 10.1085/jgp.200409060

PMCID:: PMC2233999

Article PDF–2.2M

Select item 12185104.

Gene structure and functional analysis of the human Na+/phosphate co-transporter.

Y Taketani, K i Miyamoto, K Tanaka, K Katai, M Chikamori, S Tatsumi, H Segawa, H Yamamoto, K Morita, E Takeda

Biochem J. 1997 Jun 15; 324(Pt 3): 927–934. doi: 10.1042/bj3240927

PMCID:: PMC1218510

Summary PDF–770K

Select item 109530665.

Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia

Qiao Wang, Jia-jia Chen, Li-ya Wei, Yuan Ding, Min Liu, Wen-jing Li, Chang Su, Chun-xiu Gong

Orphanet J Rare Dis. 2024; 19: 126. Published online 2024 Mar 19. doi: 10.1186/s13023-024-03135-8

PMCID:: PMC10953066

Article PDF–2.1M

Select item 90056006.

The human pathogenic 91del7 mutation in SLC34A1 has no effect in mineral homeostasis in mice

Cornelia Bieri, Arezoo Daryadel, Carla Bettoni, Eva-Maria Pastor-Arroyo, Udo Schnitzbauer, Nati Hernando, Carsten A. Wagner

Sci Rep. 2022; 12: 6102. Published online 2022 Apr 12. doi: 10.1038/s41598-022-10046-w

PMCID:: PMC9005600

Article PDF–2.0M

Select item 83115817.

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

Nephrol Dial Transplant. 2021 Aug; 36(8): 1484–1492. Published online 2020 Oct 25. doi: 10.1093/ndt/gfaa178

PMCID:: PMC8311581

Article PDF–418K

Select item 78661998.

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

Tatyana Mamonova, Peter A. Friedman

Int J Mol Sci. 2021 Feb; 22(3): 1087. Published online 2021 Jan 22. doi: 10.3390/ijms22031087

PMCID:: PMC7866199

Article PDF–1.8M

Select item 74483009.

Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria

Rebecca J Gordon, Dong Li, Daniel Doyle, Joshua Zaritsky, Michael A Levine

J Clin Endocrinol Metab. 2020 Jul; 105(7): 2392–2400. Published online 2020 Apr 20. doi: 10.1210/clinem/dgaa217

PMCID:: PMC7448300

Article

Select item 550981210.

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

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

J Appl Genet. 2017; 58(3): 349–353. Published online 2017 May 3. doi: 10.1007/s13353-017-0397-2

PMCID:: PMC5509812

Article PDF–712K

Select item 436003411.

Estrogen directly and specifically downregulates NaPi-IIa through the activation of both estrogen receptor isoforms (ERα and ERβ) in rat kidney proximal tubule

Dara Burris, Rose Webster, Sulaiman Sheriff, Rashma Faroqui, Moshe Levi, John R. Hawse, Hassane Amlal

Am J Physiol Renal Physiol. 2015 Mar 15; 308(6): F522–F534. Published online 2015 Jan 21. doi: 10.1152/ajprenal.00386.2014

PMCID:: PMC4360034

Article

Select item 332357112.

A New Human NHERF1 Mutation Decreases Renal Phosphate Transporter NPT2a Expression by a PTH-Independent Mechanism

Marie Courbebaisse, Christine Leroy, Naziha Bakouh, Christine Salaün, Laurent Beck, Bernard Grandchamp, Gabrielle Planelles, Randy A. Hall, Gérard Friedlander, Dominique Prié

PLoS One. 2012; 7(4): e34764. Published online 2012 Apr 10. doi: 10.1371/journal.pone.0034764

PMCID:: PMC3323571

Article PDF–565K

Select item 4685013.

Expression cloning of human and rat renal cortex Na/Pi cotransport.

S Magagnin, A Werner, D Markovich, V Sorribas, G Stange, J Biber, H Murer

Proc Natl Acad Sci U S A. 1993 Jul 1; 90(13): 5979–5983. doi: 10.1073/pnas.90.13.5979

PMCID:: PMC46850

Summary Page Browse PDF–1.1M

Select item 3899814.

Structure of murine and human renal type II Na+-phosphate cotransporter genes (Npt2 and NPT2).

C M Hartmann, A S Hewson, C H Kos, H Hilfiker, Y Soumounou, H Murer, H S Tenenhouse

Proc Natl Acad Sci U S A. 1996 Jul 9; 93(14): 7409–7414. doi: 10.1073/pnas.93.14.7409

PMCID:: PMC38998

Summary Page Browse PDF–1.5M

Select item 500924115.

Convergent Signaling Pathways Regulate Parathyroid Hormone and Fibroblast Growth Factor-23 Action on NPT2A-mediated Phosphate Transport

W. Bruce Sneddon, Giovanni W. Ruiz, Luciana I. Gallo, Kunhong Xiao, Qiangmin Zhang, Youssef Rbaibi, Ora A. Weisz, Gerard L. Apodaca, Peter A. Friedman

J Biol Chem. 2016 Sep 2; 291(36): 18632–18642. Published online 2016 Jul 18. doi: 10.1074/jbc.M116.744052

PMCID:: PMC5009241

Article PDF–1.7M

Select item 473111116.

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

Karl P. Schlingmann, Justyna Ruminska, Martin Kaufmann, Ismail Dursun, Monica Patti, Birgitta Kranz, Ewa Pronicka, Elzbieta Ciara, Teoman Akcay, Derya Bulus, Elisabeth A.M. Cornelissen, Aneta Gawlik, Przemysław Sikora, Ludwig Patzer, Matthias Galiano, Veselin Boyadzhiev, Miroslav Dumic, Asaf Vivante, Robert Kleta, Benjamin Dekel, Elena Levtchenko, René J. Bindels, Stephan Rust, Ian C. Forster, Nati Hernando, Glenville Jones, Carsten A. Wagner, Martin Konrad

J Am Soc Nephrol. 2016 Feb; 27(2): 604–614. Published online 2015 Jun 5. doi: 10.1681/ASN.2014101025

PMCID:: PMC4731111

Article

Select item 122389317.

Interaction of a farnesylated protein with renal type IIa Na/Pi co-transporter in response to parathyroid hormone and dietary phosphate.

Mikiko Ito, Sachi Iidawa, Michiyo Izuka, Sakiko Haito, Hiroko Segawa, Masashi Kuwahata, Ichiro Ohkido, Hiroshi Ohno, Ken-Ichi Miyamoto

Biochem J. 2004 Feb 1; 377(Pt 3): 607–616. doi: 10.1042/BJ20031223

PMCID:: PMC1223893

Summary PDF–295K

Select item 329153818.

A Genome-Wide Association Study of Nephrolithiasis in the Japanese Population Identifies Novel Susceptible Loci at 5q35.3, 7p14.3, and 13q14.1

Yuji Urabe, Chizu Tanikawa, Atsushi Takahashi, Yukinori Okada, Takashi Morizono, Tatsuhiko Tsunoda, Naoyuki Kamatani, Kenjiro Kohri, Kazuaki Chayama, Michiaki Kubo, Yusuke Nakamura, Koichi Matsuda

PLoS Genet. 2012 Mar; 8(3): e1002541. Published online 2012 Mar 1. doi: 10.1371/journal.pgen.1002541

PMCID:: PMC3291538

Article PDF–184K

Select item 315223019.

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

J Am Soc Nephrol. 2010 Jul; 21(7): 1223–1232. doi: 10.1681/ASN.2009111104

PMCID:: PMC3152230

Article

Select item 377800420.

Meta-Analysis of Genome-Wide Association Studies Identifies Six New Loci for Serum Calcium Concentrations

Conall M. O'Seaghdha, Hongsheng Wu, Qiong Yang, Karen Kapur, Idris Guessous, Annie Mercier Zuber, Anna Köttgen, Candice Stoudmann, Alexander Teumer, Zoltán Kutalik, Massimo Mangino, Abbas Dehghan, Weihua Zhang, Gudny Eiriksdottir, Guo Li, Toshiko Tanaka, Laura Portas, Lorna M. Lopez, Caroline Hayward, Kurt Lohman, Koichi Matsuda, Sandosh Padmanabhan, Dmitri Firsov, Rossella Sorice, Sheila Ulivi, A. Catharina Brockhaus, Marcus E. Kleber, Anubha Mahajan, Florian D. Ernst, Vilmundur Gudnason, Lenore J. Launer, Aurelien Mace, Eric Boerwinckle, Dan E. Arking, Chizu Tanikawa, Yusuke Nakamura, Morris J. Brown, Jean-Michel Gaspoz, Jean-Marc Theler, David S. Siscovick, Bruce M. Psaty, Sven Bergmann, Peter Vollenweider, Veronique Vitart, Alan F. Wright, Tatijana Zemunik, Mladen Boban, Ivana Kolcic, Pau Navarro, Edward M. Brown, Karol Estrada, Jingzhong Ding, Tamara B. Harris, Stefania Bandinelli, Dena Hernandez, Andrew B. Singleton, Giorgia Girotto, Daniela Ruggiero, Adamo Pio d'Adamo, Antonietta Robino, Thomas Meitinger, Christa Meisinger, Gail Davies, John M. Starr, John C. Chambers, Bernhard O. Boehm, Bernhard R. Winkelmann, Jie Huang, Federico Murgia, Sarah H. Wild, Harry Campbell, Andrew P. Morris, Oscar H. Franco, Albert Hofman, Andre G. Uitterlinden, Fernando Rivadeneira, Uwe Völker, Anke Hannemann, Reiner Biffar, Wolfgang Hoffmann, So–Youn Shin, Pierre Lescuyer, Hughes Henry, Claudia Schurmann, The SUNLIGHT consortium, The GEFOS consortium, Patricia B. Munroe, Paolo Gasparini, Nicola Pirastu, Marina Ciullo, Christian Gieger, Winfried März, Lars Lind, Tim D. Spector, Albert V. Smith, Igor Rudan, James F. Wilson, Ozren Polasek, Ian J. Deary, Mario Pirastu, Luigi Ferrucci, Yongmei Liu, Bryan Kestenbaum, Jaspal S. Kooner, Jacqueline C. M. Witteman, Matthias Nauck, W. H. Linda Kao, Henri Wallaschofski, Olivier Bonny, Caroline S. Fox, Murielle Bochud

PLoS Genet. 2013 Sep; 9(9): e1003796. Published online 2013 Sep 19. doi: 10.1371/journal.pgen.1003796

PMCID:: PMC3778004

Article PDF–797K

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