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Items: 19

1.
Relationship between clinical phenotype and in vitro analysis of 13 NPT2c/SCL34A3 mutants
François Brazier, Marie Courbebaisse, Amandine David, David Bergerat, Christine Leroy, Marta Lindner, Gérard Maruani, Camille Saint Jacques, Emmanuel Letavernier, Marguerite Hureaux, Rosa Vargas-Poussou, Dominique Prié
Sci Rep. 2023; 13: 85. Published online 2023 Jan 3. doi: 10.1038/s41598-022-25995-5
PMCID:
PMC9810644
AbstractArticlePDF–1.4M
2.
Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism
Michael Aregger, Keith A. Lawson, Maximillian Billmann, Michael Costanzo, Amy H. Y. Tong, Katherine Chan, Mahfuzur Rahman, Kevin R. Brown, Catherine Ross, Matej Usaj, Lucy Nedyalkova, Olga Sizova, Andrea Habsid, Judy Pawling, Zhen-Yuan Lin, Hala Abdouni, Cassandra J. Wong, Alexander Weiss, Patricia Mero, James W. Dennis, Anne-Claude Gingras, Chad L. Myers, Brenda J. Andrews, Charles Boone, Jason Moffat
Nat Metab. Author manuscript; available in PMC 2020 Dec 1.
Published in final edited form as: Nat Metab. 2020 Jun; 2(6): 499–513. Published online 2020 Jun 1. doi: 10.1038/s42255-020-0211-z
PMCID:
PMC7566881
AbstractArticlePDF–4.8M
3.
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
AbstractArticle
4.
Novel heterozygous GATA3 and SLC34A3 variants in a 6‐year‐old boy with Barakat syndrome and hypercalciuria
Sha Yu, Wen‐xia Chen, Wei Lu, Chao Chen, Yihua Ni, Bo Duan, Bin Wang, Huijun Wang, Zheng‐min Xu
Mol Genet Genomic Med. 2020 May; 8(5): e1222. Published online 2020 Mar 10. doi: 10.1002/mgg3.1222
PMCID:
PMC7216807
AbstractArticlePDF–1.0M
5.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
6.
SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria
Shirin Hasani-Ranjbar, Hanieh-Sadat Ejtahed, Mahsa M. Amoli, Fatemeh Bitarafan, Mostafa Qorbani, Akbar Soltani, Bahareh Yarjoo
J Clin Res Pediatr Endocrinol. 2018 Dec; 10(4): 343–349. Published online 2018 Nov 29. doi: 10.4274/jcrpe.0057
PMCID:
PMC6280320
AbstractArticlePDF–526K
7.
Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3
Sezer Acar, Huda A. BinEssa, Korcan Demir, Roua A. Al-Rijjal, Minjing Zou, Gönül Çatli, Ahmet Anık, Anwar F. Al-Enezi, Seçil Özışık, Manar S. A. Al-Faham, Ayhan Abacı, Bumin Dündar, Walaa E. Kattan, Maysoon Alsagob, Salih Kavukçu, Hamdi E. Tamimi, Brian F. Meyer, Ece Böber, Yufei Shi
PLoS One. 2018; 13(3): e0193388. Published online 2018 Mar 5. doi: 10.1371/journal.pone.0193388
PMCID:
PMC5837132
AbstractArticlePDF–9.2M
8.
Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis
Debayan Dasgupta, Mark J. Wee, Monica Reyes, Yuwen Li, Peter J. Simm, Amita Sharma, Karl-Peter Schlingmann, Marco Janner, Andrew Biggin, Joanna Lazier, Michaela Gessner, Dionisios Chrysis, Shamir Tuchman, H. Jorge Baluarte, Michael A. Levine, Dov Tiosano, Karl Insogna, David A. Hanley, Thomas O. Carpenter, Shoji Ichikawa, Bernd Hoppe, Martin Konrad, Lars Sävendahl, Craig F. Munns, Hang Lee, Harald Jüppner, Clemens Bergwitz
J Am Soc Nephrol. 2014 Oct; 25(10): 2366–2375. Published online 2014 Apr 3. doi: 10.1681/ASN.2013101085
PMCID:
PMC4178443
AbstractArticle
9.
Novel SLC34A3 mutation causing hereditary hypophosphataemic rickets with hypercalciuria in a Gambian family
Vickie Braithwaite, John M. Pettifor, Ann Prentice
Bone. 2013 Mar; 53(1): 216–220. doi: 10.1016/j.bone.2012.12.003
PMCID:
PMC3557384
AbstractArticle
10.
SLC34A3 Intronic Deletion in a New Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria
Shirin Hasani-Ranjbar, Mahsa M. Amoli, Azadeh Ebrahim-Habibi, Ehsan Dehghan, Akbar Soltani, Parvin Amiri, Bagher Larijani
J Clin Res Pediatr Endocrinol. 2012 Jun; 4(2): 89–93. Published online 2012 Jun 9. doi: 10.4274/jcrpe.601
PMCID:
PMC3386779
AbstractArticlePDF–176K
11.
Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred
Y. Yu, S.R. Sanderson, M. Reyes, A. Sharma, N. Dunbar, T. Srivastava, H. Jüppner, C. Bergwitz
Bone. Author manuscript; available in PMC 2013 May 1.
Published in final edited form as: Bone. 2012 May; 50(5): 1100–1106. Published online 2012 Feb 24. doi: 10.1016/j.bone.2012.02.015
PMCID:
PMC3322249
AbstractArticlePDF–837K
12.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
13.
Hypophosphatemic Rickets with Hypercalciuria due to Mutation in SLC34A3/Type IIc Sodium-Phosphate Cotransporter: Presentation as Hypercalciuria and Nephrolithiasis
Amanda L. Tencza, Shoji Ichikawa, Anna Dang, David Kenagy, Edward McCarthy, Michael J. Econs, Michael A. Levine
J Clin Endocrinol Metab. 2009 Nov; 94(11): 4433–4438. Published online 2009 Oct 9. doi: 10.1210/jc.2009-1535
PMCID:
PMC2775650
AbstractArticle
14.
A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc
Graciana Jaureguiberry, Thomas O. Carpenter, Stuart Forman, Harald Jüppner, Clemens Bergwitz
Am J Physiol Renal Physiol. 2008 Aug; 295(2): F371–F379. Published online 2008 May 14. doi: 10.1152/ajprenal.00090.2008
PMCID:
PMC2519180
AbstractArticle
15.
Blood Pressure Is Regulated by an α1D-Adrenergic Receptor/Dystrophin Signalosome
John S. Lyssand, Mia C. DeFino, Xiao-bo Tang, Angie L. Hertz, David B. Feller, Jennifer L. Wacker, Marvin E. Adams, Chris Hague
J Biol Chem. 2008 Jul 4; 283(27): 18792–18800. doi: 10.1074/jbc.M801860200
PMCID:
PMC2441552
AbstractArticlePDF–591K
16.
Structure–Function Relations of the First and Fourth Extracellular Linkers of the Type IIa Na+/Pi Cotransporter: II. Substrate Interaction and Voltage Dependency of Two Functionally Important Sites
Colin Ehnes, Ian C. Forster, Andrea Bacconi, Katja Kohler, Jürg Biber, Heini Murer
J Gen Physiol. 2004 Nov; 124(5): 489–503. doi: 10.1085/jgp.200409061
PMCID:
PMC2234003
AbstractArticlePDF–1.4M
17.
Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3
Bettina Lorenz-Depiereux, Anna Benet-Pages, Gertrud Eckstein, Yardena Tenenbaum-Rakover, Janine Wagenstaller, Dov Tiosano, Ruth Gershoni-Baruch, Norbert Albers, Peter Lichtner, Dirk Schnabel, Ze’ev Hochberg, Tim M. Strom
Am J Hum Genet. 2006 Feb; 78(2): 193–201. Published online 2005 Dec 9. doi: 10.1086/499410
PMCID:
PMC1380229
AbstractArticlePDF–1.3M
18.
SLC34A3 Mutations in Patients with Hereditary Hypophosphatemic Rickets with Hypercalciuria Predict a Key Role for the Sodium-Phosphate Cotransporter NaPi-IIc in Maintaining Phosphate Homeostasis
Clemens Bergwitz, Nicole M. Roslin, Martin Tieder, J C. Loredo-Osti, Murat Bastepe, Hilal Abu-Zahra, Danielle Frappier, Kelly Burkett, Thomas O. Carpenter, Donald Anderson, Michèle Garabédian, Isabelle Sermet, T. Mary Fujiwara, Kenneth Morgan, Harriet S. Tenenhouse, Harald Jüppner
Am J Hum Genet. 2006 Feb; 78(2): 179–192. Published online 2005 Dec 9. doi: 10.1086/499409
PMCID:
PMC1380228
AbstractArticlePDF–1.3M
19.
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences
Mammalian Gene Collection (MGC) Program Team
Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899
PMCID:
PMC139241
AbstractArticlePDF–118K

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