Relationship between clinical phenotype and in vitro analysis of 13 NPT2c/SCL34A3 mutants.
Scientific Reports
Brazier, François F; Courbebaisse, Marie M; David, Amandine A; Bergerat, David D; Leroy, Christine C; Lindner, Marta M; Maruani, Gérard G; Saint Jacques, Camille C; Letavernier, Emmanuel E; Hureaux, Marguerite M; Vargas-Poussou, Rosa R; Prié, Dominique D
Publication Date: 2023-01-03
Variant appearance in text: SLC34A1: 272_292del; Val91_Ala97del
Genetic associations of protein-coding variants in human disease.
Nature
Sun, Benjamin B BB; Kurki, Mitja I MI; Foley, Christopher N CN; Mechakra, Asma A; Chen, Chia-Yen CY; Marshall, Eric E; Wilk, Jemma B JB; , ; Chahine, Mohamed M; Chevalier, Philippe P; Christé, Georges G; , ; Palotie, Aarno A; Daly, Mark J MJ; Runz, Heiko H
Publication Date: 2022-03
Variant appearance in text: SLC34A1: Val91_Ala97del
Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.
Kidney International Reports
Cogal, Andrea G AG; Arroyo, Jennifer J; Shah, Ronak Jagdeep RJ; Reese, Kalina J KJ; Walton, Brenna N BN; Reynolds, Laura M LM; Kennedy, Gabrielle N GN; Seide, Barbara M BM; Senum, Sarah R SR; Baum, Michelle M; Erickson, Stephen B SB; Jagadeesh, Sujatha S; Soliman, Neveen A NA; Goldfarb, David S DS; Beara-Lasic, Lada L; Edvardsson, Vidar O VO; Palsson, Runolfur R; Milliner, Dawn S DS; Sas, David J DJ; Lieske, John C JC; Harris, Peter C PC; ,
Publication Date: 2021-11
Variant appearance in text: SLC34A1: 272_292del; Val91_Ala97del
Five patients with disorders of calcium metabolism presented with GCM2 gene variants.
Scientific Reports
García-Castaño, Alejandro A; Madariaga, Leire L; Gómez-Conde, Sara S; Cordo, Carmen Lourdes Rey CLR; López-Iglesias, María M; Garcia-Fernández, Yolanda Y; Martín, Alicia A; González, Pedro P; Goicolea, Ignacio I; de Nanclares, Gustavo Pérez GP; De la Hoz, Ana Belén AB; Aguayo, Aníbal A; de LaPiscina, Idoia Martínez IM; Martínez, Rosa R; Saso, Laura L; Urrutia, Inés I; Velasco, Olaia O; Castaño, Luis L; Gaztambide, Sonia S
Publication Date: 2021-02-03
Variant appearance in text: SLC34A1: 272_292delTCCCCAAGCTGCGCCAGGCTG; Val91_Ala97del
Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations.
Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Janiec, Agnieszka A; Halat-Wolska, Paulina P; Obrycki, Łukasz Ł; Ciara, Elżbieta E; Wójcik, Marek M; Płudowski, Paweł P; Wierzbicka, Aldona A; Kowalska, Ewa E; Książyk, Janusz B JB; Kułaga, Zbigniew Z; Pronicka, Ewa E; Litwin, Mieczysław M
Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.
Physiological Reports
Fearn, Amy A; Allison, Benjamin B; Rice, Sarah J SJ; Edwards, Noel N; Halbritter, Jan J; Bourgeois, Soline S; Pastor-Arroyo, Eva M EM; Hildebrandt, Friedhelm F; Tasic, Velibor V; Wagner, Carsten A CA; Hernando, Nati N; Sayer, John A JA; Werner, Andreas A
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
Publication Date: 2017-01-04
Variant appearance in text: SLC34A1: 272_292delTCCCCAAGCTGCGCCAGGCTG; Val91_Ala97del
Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.
Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.
Journal Of The American Society Of Nephrology : Jasn
Halbritter, Jan J; Baum, Michelle M; Hynes, Ann Marie AM; Rice, Sarah J SJ; Thwaites, David T DT; Gucev, Zoran S ZS; Fisher, Brittany B; Spaneas, Leslie L; Porath, Jonathan D JD; Braun, Daniela A DA; Wassner, Ari J AJ; Nelson, Caleb P CP; Tasic, Velibor V; Sayer, John A JA; Hildebrandt, Friedhelm F
Publication Date: 2015-03
Variant appearance in text: SLC34A1: 271_291del; Val91_Ala97del