FGF23 c.527G>A ;(p.R176Q)

Variant ID: 12-4479738-C-T

NM_020638.2(FGF23):c.527G>A;(p.R176Q)

This variant was identified in 96 publications

View GRCh38 version.




Publications:


Exploring the Structural and Functional Diversity among FGF Signals: A Comparative Study of Human, Mouse, and Xenopus FGF Ligands in Embryonic Development and Cancer Pathogenesis.

International Journal Of Molecular Sciences
Goutam, Ravi Shankar RS; Kumar, Vijay V; Lee, Unjoo U; Kim, Jaebong J
Publication Date: 2023-04-20

Variant appearance in text: FGF23: R176Q
PubMed Link: 37108717
Variant Present in the following documents:
  • ijms-24-07556.pdf
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: FGF23: 527G>A; Arg176Gln
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: FGF23: 527G>A; Arg176Gln
PubMed Link: 36755093
Variant Present in the following documents:
  • 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: FGF23: R176Q; rs104894347
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_8.xlsx, sheet 1
View BVdb publication page



Fibroblast growth factor 23 inhibits osteogenic differentiation and mineralization of chicken bone marrow mesenchymal stem cells.

Poultry Science
Lyu, Zhengtian Z; Li, Haifang H; Li, Xin X; Wang, Hui H; Jiao, Hongchao H; Wang, Xiaojuan X; Zhao, Jingpeng J; Lin, Hai H
Publication Date: 2022-10-25

Variant appearance in text: FGF23: R176Q
PubMed Link: 36442309
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



High sodium reduced the expression of PTH1R and Klotho by inhibiting 1,25(OH)2D3 synthesis in cultured proximal tubule epithelial cells.

Annals Of Translational Medicine
Gu, Jie J; Shi, Jialin J; Chen, Xujiao X; Mao, Jianping J; You, Huaizhou H; Chen, Jing J
Publication Date: 2022-05

Variant appearance in text: FGF23: R176Q
PubMed Link: 35928745
Variant Present in the following documents:
  • atm-10-09-506.pdf
View BVdb publication page



High phosphate intake induces bone loss in nephrectomized thalassemic mice.

Plos One
Wanna-Udom, Sasithorn S; Luesiripong, Chainarong C; Sakunrangsit, Nithidol N; Metheepakornchai, Piyanuch P; Intharamonthian, Sitthichai S; Svasti, Saovaros S; Greenblatt, Matthew B MB; Leelahavanichkul, Asada A; Lotinun, Sutada S
Publication Date: 2022

Variant appearance in text: FGF23: R176Q
PubMed Link: 35622784
Variant Present in the following documents:
  • pone.0268732.pdf
View BVdb publication page



Renoprotective effects of ferric citrate in a mouse model of chronic kidney disease.

Scientific Reports
Hanudel, Mark R MR; Czaya, Brian B; Wong, Shirley S; Jung, Grace G; Chua, Kristine K; Qiao, Bo B; Gabayan, Victoria V; Ganz, Tomas T
Publication Date: 2022-04-23

Variant appearance in text: FGF23: R176Q
PubMed Link: 35461329
Variant Present in the following documents:
  • 41598_2022_Article_10842.pdf
View BVdb publication page



Are transient protein-protein interactions more dispensable?

Plos Computational Biology
Ghadie, Mohamed Ali MA; Xia, Yu Y
Publication Date: 2022-04

Variant appearance in text: FGF23: 527G>A; Arg176Gln
PubMed Link: 35404956
Variant Present in the following documents:
  • pcbi.1010013.s002.xlsx, sheet 4
View BVdb publication page



Identification of a Novel Missense Mutation of the PHEX Gene in a Large Chinese Family with X-Linked Hypophosphataemia.

Frontiers In Genetics
Yang, Yanting Y; Wang, Yuanda Y; Shen, Ying Y; Liu, Mohan M; Dai, Siyu S; Wang, Xiaodong X; Liu, Hongqian H
Publication Date: 2022

Variant appearance in text: FGF23: R176q
PubMed Link: 35251124
Variant Present in the following documents:
  • fgene-13-792183.pdf
View BVdb publication page



A review of ferric citrate clinical studies, and the rationale and design of the Ferric Citrate and Chronic Kidney Disease in Children (FIT4KiD) trial.

Pediatric Nephrology (Berlin, Germany)
Hanudel, Mark R MR; Laster, Marciana L ML; Portale, Anthony A AA; Dokras, Aditi A; Quigley, Raymond P RP; Guzman, German A Lozano GAL; Zaritsky, Joshua J JJ; Hayde, Nicole A NA; Kaskel, Frederick J FJ; Mitsnefes, Mark M MM; Ramirez, Jorge A JA; Imani, Peace D PD; Srivaths, Poyyapakkam R PR; Kogon, Amy J AJ; Denburg, Michelle R MR; Blydt-Hansen, Tom D TD; Reyes, Loretta Z LZ; Greenbaum, Larry A LA; Weidemann, Darcy K DK; Warady, Bradley A BA; Elashoff, David A DA; Mendley, Susan R SR; Isakova, Tamara T; Salusky, Isidro B IB
Publication Date: 2022-11

Variant appearance in text: FGF23: R176Q
PubMed Link: 35237863
Variant Present in the following documents:
  • 467_2022_Article_5492.pdf
View BVdb publication page



Endocrine Fibroblast Growth Factors in Relation to Stress Signaling.

Cells
Shimizu, Makoto M; Sato, Ryuichiro R
Publication Date: 2022-02-01

Variant appearance in text: FGF23: R176Q
PubMed Link: 35159314
Variant Present in the following documents:
  • cells-11-00505.pdf
View BVdb publication page



Tumor-induced osteomalacia: a case report.

Journal Of Medical Case Reports
Aligail, Khalid K; Dave, Joel A JA; Ross, Ian Louis IL
Publication Date: 2022-01-12

Variant appearance in text: FGF23: R176Q
PubMed Link: 35016725
Variant Present in the following documents:
  • 13256_2021_Article_3220.pdf
View BVdb publication page



Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: FGF23: 527G>A; Arg176Gln
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_4.xlsx, sheet 1
View BVdb publication page



Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature.

International Journal Of Environmental Research And Public Health
Mameli, Chiara C; Sangiorgio, Arianna A; Colombo, Valeria V; Gambino, Mirko M; Spaccini, Luigina L; Cattaneo, Elisa E; Zuccotti, Gian Vincenzo GV
Publication Date: 2021-08-19

Variant appearance in text: FGF23: 527G>A; R176Q; rs104894347
PubMed Link: 34444516
Variant Present in the following documents:
  • Main text
View BVdb publication page



FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes.

International Journal Of Molecular Sciences
Palma-Lara, Icela I; Pérez-Ramírez, Monserrat M; García Alonso-Themann, Patricia P; Espinosa-García, Ana María AM; Godinez-Aguilar, Ricardo R; Bonilla-Delgado, José J; López-Ornelas, Adolfo A; Victoria-Acosta, Georgina G; Olguín-García, María Guadalupe MG; Moreno, José J; Palacios-Reyes, Carmen C
Publication Date: 2021-07-27

Variant appearance in text: FGF23: R176Q
PubMed Link: 34360805
Variant Present in the following documents:
  • Main text
  • ijms-22-08039.pdf
View BVdb publication page



TIO Associated with Hyperparathyroidism: A Rarity, a Rule, or a Novel HPT-PMT Syndrome-A Case Study with Literature Review.

Case Reports In Endocrinology
Salim, Michael M; Behairy, Mohannad Samy MS; Barengolts, Elena E
Publication Date: 2021

Variant appearance in text: FGF23: R176Q
PubMed Link: 34354845
Variant Present in the following documents:
  • CRIE2021-5172131.pdf
View BVdb publication page



In Vivo Analysis of the Contribution of Proprotein Convertases to the Processing of FGF23.

Frontiers In Endocrinology
Al Rifai, Omar O; Susan-Resiga, Delia D; Essalmani, Rachid R; Creemers, John W M JWM; Seidah, Nabil G NG; Ferron, Mathieu M
Publication Date: 2021

Variant appearance in text: FGF23: R176Q
PubMed Link: 34149625
Variant Present in the following documents:
  • Main text
  • fendo-12-690681.pdf
View BVdb publication page



The ABCs of the atypical Fam20 secretory pathway kinases.

The Journal Of Biological Chemistry
Worby, Carolyn A CA; Mayfield, Joshua E JE; Pollak, Adam J AJ; Dixon, Jack E JE; Banerjee, Sourav S
Publication Date: 2021

Variant appearance in text: FGF23: R176Q
PubMed Link: 33759783
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Parenteral iron therapy and phosphorus homeostasis: A review.

American Journal Of Hematology
Kalantar-Zadeh, Kamyar K; Ganz, Tomas T; Trumbo, Henry H; Seid, Melvin H MH; Goodnough, Lawrence T LT; Levine, Michael A MA
Publication Date: 2021-05-01

Variant appearance in text: FGF23: R176Q
PubMed Link: 33471363
Variant Present in the following documents:
  • AJH-96-606.pdf
View BVdb publication page



FGF23 contains two distinct high-affinity binding sites enabling bivalent interactions with α-Klotho.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Suzuki, Yoshihisa Y; Kuzina, Ekaterina E; An, Seong J SJ; Tome, Francisco F; Mohanty, Jyotidarsini J; Li, Wenxue W; Lee, Sangwon S; Liu, Yansheng Y; Lax, Irit I; Schlessinger, Joseph J
Publication Date: 2020-12-15

Variant appearance in text: FGF23: R176Q
PubMed Link: 33257569
Variant Present in the following documents:
  • Main text
View BVdb publication page



Osteocytic FGF23 and Its Kidney Function.

Frontiers In Endocrinology
Agoro, Rafiou R; Ni, Pu P; Noonan, Megan L ML; White, Kenneth E KE
Publication Date: 2020

Variant appearance in text: FGF23: R176Q
PubMed Link: 32982979
Variant Present in the following documents:
  • Main text
  • fendo-11-00592.pdf
View BVdb publication page



FGF/FGFR signaling in health and disease.

Signal Transduction And Targeted Therapy
Xie, Yangli Y; Su, Nan N; Yang, Jing J; Tan, Qiaoyan Q; Huang, Shuo S; Jin, Min M; Ni, Zhenhong Z; Zhang, Bin B; Zhang, Dali D; Luo, Fengtao F; Chen, Hangang H; Sun, Xianding X; Feng, Jian Q JQ; Qi, Huabing H; Chen, Lin L
Publication Date: 2020-09-02

Variant appearance in text: FGF23: R176Q
PubMed Link: 32879300
Variant Present in the following documents:
  • 41392_2020_Article_222.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: FGF23: R176Q
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Phosphorus Restriction Changes the Expression of Fibroblast Growth Factor 23 and Its Receptors in Laying Hens.

Frontiers In Physiology
Ren, Zhouzheng Z; Yan, Jiakun J; Hu, Qianli Q; Liu, Xinshuai X; Pan, Chong C; Liu, Yanli Y; Zhang, Xiaozhen X; Yang, Xin X; Yang, Xiaojun X
Publication Date: 2020

Variant appearance in text: FGF23: R176Q
PubMed Link: 32116791
Variant Present in the following documents:
  • fphys-11-00085.pdf
View BVdb publication page



Molecular basis for fibroblast growth factor 23 O-glycosylation by GalNAc-T3.

Nature Chemical Biology
de Las Rivas, Matilde M; Paul Daniel, Earnest James EJ; Narimatsu, Yoshiki Y; Compañón, Ismael I; Kato, Kentaro K; Hermosilla, Pablo P; Thureau, Aurélien A; Ceballos-Laita, Laura L; Coelho, Helena H; Bernadó, Pau P; Marcelo, Filipa F; Hansen, Lars L; Maeda, Ryota R; Lostao, Anabel A; Corzana, Francisco F; Clausen, Henrik H; Gerken, Thomas A TA; Hurtado-Guerrero, Ramon R
Publication Date: 2020-03

Variant appearance in text: FGF23: R176Q
PubMed Link: 31932717
Variant Present in the following documents:
  • Main text
View BVdb publication page



Oral Iron for Prevention and Treatment of Rickets and Osteomalacia in Autosomal Dominant Hypophosphatemia.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research
Högler, Wolfgang W; Kapelari, Klaus K
Publication Date: 2020-02

Variant appearance in text: FGF23: R176Q
PubMed Link: 31834957
Variant Present in the following documents:
  • Main text
  • JBMR-35-0.pdf
View BVdb publication page



Oral Iron Replacement Normalizes Fibroblast Growth Factor 23 in Iron-Deficient Patients With Autosomal Dominant Hypophosphatemic Rickets.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research
Imel, Erik A EA; Liu, Ziyue Z; Coffman, Melissa M; Acton, Dena D; Mehta, Rakesh R; Econs, Michael J MJ
Publication Date: 2020-02

Variant appearance in text: FGF23: R176Q
PubMed Link: 31652009
Variant Present in the following documents:
  • Main text
View BVdb publication page



The FGF metabolic axis.

Frontiers Of Medicine
Li, Xiaokun X
Publication Date: 2019-10

Variant appearance in text: FGF23: R176Q
PubMed Link: 31495905
Variant Present in the following documents:
  • 11684_2019_Article_711.pdf
View BVdb publication page



A G protein-coupled, IP3/protein kinase C pathway controlling the synthesis of phosphaturic hormone FGF23.

Jci Insight
He, Qing Q; Shumate, Lauren T LT; Matthias, Julia J; Aydin, Cumhur C; Wein, Marc N MN; Spatz, Jordan M JM; Goetz, Regina R; Mohammadi, Moosa M; Plagge, Antonius A; Divieti Pajevic, Paola P; Bastepe, Murat M
Publication Date: 2019-09-05

Variant appearance in text: FGF23: R176Q
PubMed Link: 31484825
Variant Present in the following documents:
  • Main text
View BVdb publication page



Estimating dispensable content in the human interactome.

Nature Communications
Ghadie, Mohamed M; Xia, Yu Y
Publication Date: 2019-07-19

Variant appearance in text: FGF23: 527G>A; Arg176Gln
PubMed Link: 31324802
Variant Present in the following documents:
  • 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
  • 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4
View BVdb publication page



Regulation of Fibroblast Growth Factor 23 by Iron, EPO, and HIF.

Current Molecular Biology Reports
Wheeler, Jonathan A JA; Clinkenbeard, Erica L EL
Publication Date: 2019-03

Variant appearance in text: FGF23: R176Q
PubMed Link: 31218207
Variant Present in the following documents:
  • Main text
View BVdb publication page



FGF23 Synthesis and Activity.

Current Molecular Biology Reports
Noonan, Megan L ML; White, Kenneth E KE
Publication Date: 2019-03

Variant appearance in text: FGF23: R176Q
PubMed Link: 31008021
Variant Present in the following documents:
  • Main text
View BVdb publication page



The EPO-FGF23 Signaling Pathway in Erythroid Progenitor Cells: Opening a New Area of Research.

Frontiers In Physiology
van Vuren, Annelies J AJ; Gaillard, Carlo A J M CAJM; Eisenga, Michele F MF; van Wijk, Richard R; van Beers, Eduard J EJ
Publication Date: 2019

Variant appearance in text: FGF23: R176Q
PubMed Link: 30971944
Variant Present in the following documents:
  • Main text
  • fphys-10-00304.pdf
View BVdb publication page



Autosomal Dominant Hypophosphatemic Rickets Presenting in a Phenotypically Normal Adult Female.

Case Reports In Endocrinology
Mualla, Hala H; Bae, Su Ah SA; Yaqub, Abid A
Publication Date: 2019

Variant appearance in text: FGF23: 527G>A; Arg176Gln
PubMed Link: 30949368
Variant Present in the following documents:
  • Main text
View BVdb publication page



Levels of Circulating Fibroblast Growth Factor 23 (FGF23) and Prognosis in Cancer Patients with Bone Metastases.

International Journal Of Molecular Sciences
Mansinho, André A; Ferreira, Arlindo R AR; Casimiro, Sandra S; Alho, Irina I; Vendrell, Inês I; Costa, Ana Lúcia AL; Sousa, Rita R; Abreu, Catarina C; Pulido, Catarina C; Macedo, Daniela D; Pacheco, Teresa R TR; Correia, Lurdes L; Costa, Luís L
Publication Date: 2019-02-06

Variant appearance in text: FGF23: R176Q
PubMed Link: 30736285
Variant Present in the following documents:
  • ijms-20-00695.pdf
View BVdb publication page



Physiological regulation of phosphate by vitamin D, parathyroid hormone (PTH) and phosphate (Pi).

Pflugers Archiv : European Journal Of Physiology
Jacquillet, Grégory G; Unwin, Robert J RJ
Publication Date: 2019-01

Variant appearance in text: FGF23: R176Q
PubMed Link: 30393837
Variant Present in the following documents:
  • 424_2018_Article_2231.pdf
View BVdb publication page



Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies.

The Journal Of Clinical Investigation
Roberts, Mary Scott MS; Burbelo, Peter D PD; Egli-Spichtig, Daniela D; Perwad, Farzana F; Romero, Christopher J CJ; Ichikawa, Shoji S; Farrow, Emily E; Econs, Michael J MJ; Guthrie, Lori C LC; Collins, Michael T MT; Gafni, Rachel I RI
Publication Date: 2018-12-03

Variant appearance in text: FGF23: R176Q
PubMed Link: 30226830
Variant Present in the following documents:
  • Main text
View BVdb publication page



FGF23 and Fetuin-A Interaction in the Liver and in the Circulation.

International Journal Of Biological Sciences
Mattinzoli, Deborah D; Ikehata, Masami M; Tsugawa, Koji K; Alfieri, Carlo M CM; Dongiovanni, Paola P; Trombetta, Elena E; Valenti, Luca L; Puliti, Aldamaria A; Lazzari, Lorenza L; Messa, Piergiorgio P
Publication Date: 2018

Variant appearance in text: FGF23: R176Q
PubMed Link: 29904273
Variant Present in the following documents:
  • ijbsv14p0586.pdf
View BVdb publication page



Genetics of Refractory Rickets: Identification of Novel PHEX Mutations in Indian Patients and a Literature Update.

Journal Of Pediatric Genetics
Marik, Binata B; Bagga, Arvind A; Sinha, Aditi A; Hari, Pankaj P; Sharma, Arundhati A
Publication Date: 2018-06

Variant appearance in text: FGF23: R176Q
PubMed Link: 29707405
Variant Present in the following documents:
  • Main text
View BVdb publication page



α-Klotho is a non-enzymatic molecular scaffold for FGF23 hormone signalling.

Nature
Chen, Gaozhi G; Liu, Yang Y; Goetz, Regina R; Fu, Lili L; Jayaraman, Seetharaman S; Hu, Ming-Chang MC; Moe, Orson W OW; Liang, Guang G; Li, Xiaokun X; Mohammadi, Moosa M
Publication Date: 2018-01-25

Variant appearance in text: FGF23: R176Q
PubMed Link: 29342138
Variant Present in the following documents:
  • NIHMS927628-supplement-Supplementary_Table_1.pdf
View BVdb publication page



The metabolic bone disease associated with the Hyp mutation is independent of osteoblastic HIF1α expression.

Bone Reports
Hum, Julia M JM; Clinkenbeard, Erica L EL; Ip, Colin C; Cass, Taryn A TA; Allen, Matt M; White, Kenneth E KE
Publication Date: 2017-06

Variant appearance in text: FGF23: R176Q
PubMed Link: 28377980
Variant Present in the following documents:
  • Main text
View BVdb publication page



Acute Parathyroid Hormone Injection Increases C-Terminal but Not Intact Fibroblast Growth Factor 23 Levels.

Endocrinology
Knab, Vanessa M VM; Corbin, Braden B; Andrukhova, Olena O; Hum, Julia M JM; Ni, Pu P; Rabadi, Seham S; Maeda, Akira A; White, Kenneth E KE; Erben, Reinhold G RG; Jüppner, Harald H; Christov, Marta M
Publication Date: 2017-05-01

Variant appearance in text: FGF23: R176Q
PubMed Link: 28324013
Variant Present in the following documents:
  • Main text
View BVdb publication page



Heritable and acquired disorders of phosphate metabolism: Etiologies involving FGF23 and current therapeutics.

Bone
Clinkenbeard, Erica L EL; White, Kenneth E KE
Publication Date: 2017-09

Variant appearance in text: FGF23: R176Q
PubMed Link: 28159712
Variant Present in the following documents:
  • Main text
View BVdb publication page



Persistent fibroblast growth factor 23 signalling in the parathyroid glands for secondary hyperparathyroidism in mice with chronic kidney disease.

Scientific Reports
Kawakami, Kazuki K; Takeshita, Ai A; Furushima, Kenryo K; Miyajima, Masayasu M; Hatamura, Ikuji I; Kuro-O, Makoto M; Furuta, Yasuhide Y; Sakaguchi, Kazushige K
Publication Date: 2017-01-17

Variant appearance in text: FGF23: R176Q
PubMed Link: 28094278
Variant Present in the following documents:
  • srep40534.pdf
View BVdb publication page



Dietary phosphate supplement does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia.

Journal Of Negative Results In Biomedicine
Liu, Yaling Y; Dutra, Eliane H EH; Reichenberger, Ernst J EJ; Chen, I-Ping IP
Publication Date: 2016-10-26

Variant appearance in text: FGF23: R176Q
PubMed Link: 27784318
Variant Present in the following documents:
  • 12952_2016_Article_61.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: FGF23: 527G>A; R176Q
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Multiple faces of fibroblast growth factor-23.

Current Opinion In Nephrology And Hypertension
Han, Xiaobin X; Quarles, L Darryl LD
Publication Date: 2016-07

Variant appearance in text: FGF23: R176Q
PubMed Link: 27219044
Variant Present in the following documents:
  • Main text
View BVdb publication page



Systemic Control of Bone Homeostasis by FGF23 Signaling.

Current Molecular Biology Reports
Clinkenbeard, Erica L EL; White, Kenneth E KE
Publication Date: 2016-03-01

Variant appearance in text: FGF23: R176Q
PubMed Link: 27134818
Variant Present in the following documents:
  • Main text
View BVdb publication page



Calcium Extrusion Pump PMCA4: A New Player in Renal Calcium Handling?

Plos One
van Loon, Ellen P M EP; Little, Robert R; Prehar, Sukhpal S; Bindels, René J M RJ; Cartwright, Elizabeth J EJ; Hoenderop, Joost G J JG
Publication Date: 2016

Variant appearance in text: FGF23: R176Q
PubMed Link: 27101128
Variant Present in the following documents:
  • pone.0153483.pdf
View BVdb publication page



CYP24 inhibition as a therapeutic target in FGF23-mediated renal phosphate wasting disorders.

The Journal Of Clinical Investigation
Bai, Xiuying X; Miao, Dengshun D; Xiao, Sophia S; Qiu, Dinghong D; St-Arnaud, René R; Petkovich, Martin M; Gupta, Ajay A; Goltzman, David D; Karaplis, Andrew C AC
Publication Date: 2016-02

Variant appearance in text: FGF23: R176Q
PubMed Link: 26784541
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pruning the ricket thicket.

The Journal Of Clinical Investigation
David, Valentin V; Wolf, Myles M
Publication Date: 2016-02

Variant appearance in text: FGF23: R176Q
PubMed Link: 26784540
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of FGF/FGFR signaling in skeletal development and homeostasis: learning from mouse models.

Bone Research
Su, Nan N; Jin, Min M; Chen, Lin L
Publication Date: 2014

Variant appearance in text: FGF23: R176Q
PubMed Link: 26273516
Variant Present in the following documents:
  • Main text
View BVdb publication page



FGF23 and Phosphate Wasting Disorders.

Bone Research
Huang, Xianglan X; Jiang, Yan Y; Xia, Weibo W
Publication Date: 2013-06

Variant appearance in text: FGF23: R176Q
PubMed Link: 26273497
Variant Present in the following documents:
  • Main text
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: FGF23: R176Q
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Functional diversity of fibroblast growth factors in bone formation.

International Journal Of Endocrinology
Takei, Yuichiro Y; Minamizaki, Tomoko T; Yoshiko, Yuji Y
Publication Date: 2015

Variant appearance in text: FGF23: R176Q
PubMed Link: 25873956
Variant Present in the following documents:
  • Main text
  • IJE2015-729352.pdf
View BVdb publication page



The secretory pathway kinases.

Biochimica Et Biophysica Acta
Sreelatha, Anju A; Kinch, Lisa N LN; Tagliabracci, Vincent S VS
Publication Date: 2015-10

Variant appearance in text: FGF23: R176Q
PubMed Link: 25862977
Variant Present in the following documents:
  • Main text
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: FGF23: R176Q
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



FGF23 is endogenously phosphorylated in bone cells.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research
Lindberg, Iris I; Pang, Hong Weng HW; Stains, Joseph P JP; Clark, David D; Yang, Austin J AJ; Bonewald, Lynda L; Li, Kevin Z KZ
Publication Date: 2015-03

Variant appearance in text: FGF23: R176Q
PubMed Link: 25195776
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic rescue of glycosylation-deficient Fgf23 in the Galnt3 knockout mouse.

Endocrinology
Ichikawa, Shoji S; Gray, Amie K AK; Padgett, Leah R LR; Allen, Matthew R MR; Clinkenbeard, Erica L EL; Sarpa, Nicole M NM; White, Kenneth E KE; Econs, Michael J MJ
Publication Date: 2014-10

Variant appearance in text: FGF23: R176Q
PubMed Link: 25051439
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hypophosphatemic rickets: revealing novel control points for phosphate homeostasis.

Current Osteoporosis Reports
White, Kenneth E KE; Hum, Julia M JM; Econs, Michael J MJ
Publication Date: 2014-09

Variant appearance in text: FGF23: R176Q
PubMed Link: 24980542
Variant Present in the following documents:
  • Main text
View BVdb publication page



Coupling fibroblast growth factor 23 production and cleavage: iron deficiency, rickets, and kidney disease.

Current Opinion In Nephrology And Hypertension
Wolf, Myles M; White, Kenneth E KE
Publication Date: 2014-07

Variant appearance in text: FGF23: R176Q
PubMed Link: 24867675
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular bases of diseases characterized by hypophosphatemia and phosphaturia: new understanding.

Clinical Pediatric Endocrinology : Case Reports And Clinical Investigations : Official Journal Of The Japanese Society For Pediatric Endocrinology
Ozono, Keiichi K; Michigami, Toshimi T; Namba, Noriyuki N; Nakajima, Shigeo S; Yamamoto, Takehisa T
Publication Date: 2006

Variant appearance in text: FGF23: R176Q
PubMed Link: 24790333
Variant Present in the following documents:
  • Main text
  • cpe-15-129.pdf
View BVdb publication page



Dynamic regulation of FGF23 by Fam20C phosphorylation, GalNAc-T3 glycosylation, and furin proteolysis.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Tagliabracci, Vincent S VS; Engel, James L JL; Wiley, Sandra E SE; Xiao, Junyu J; Gonzalez, David J DJ; Nidumanda Appaiah, Hitesh H; Koller, Antonius A; Nizet, Victor V; White, Kenneth E KE; Dixon, Jack E JE
Publication Date: 2014-04-15

Variant appearance in text: FGF23: R176Q
PubMed Link: 24706917
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reduced renal α-Klotho expression in CKD patients and its effect on renal phosphate handling and vitamin D metabolism.

Plos One
Sakan, Hirokazu H; Nakatani, Kimihiko K; Asai, Osamu O; Imura, Akihiro A; Tanaka, Tomohiro T; Yoshimoto, Shuhei S; Iwamoto, Noriyuki N; Kurumatani, Norio N; Iwano, Masayuki M; Nabeshima, Yo-Ichi Y; Konishi, Noboru N; Saito, Yoshihiko Y
Publication Date: 2014

Variant appearance in text: FGF23: R176Q
PubMed Link: 24466013
Variant Present in the following documents:
  • Main text
  • pone.0086301.pdf
View BVdb publication page



FGF-23 regulates CYP27B1 transcription in the kidney and in extra-renal tissues.

Plos One
Chanakul, Ankanee A; Zhang, Martin Y H MY; Louw, Andrew A; Armbrecht, Harvey J HJ; Miller, Walter L WL; Portale, Anthony A AA; Perwad, Farzana F
Publication Date: 2013

Variant appearance in text: FGF23: R176Q
PubMed Link: 24019880
Variant Present in the following documents:
  • Main text
View BVdb publication page



Neonatal iron deficiency causes abnormal phosphate metabolism by elevating FGF23 in normal and ADHR mice.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research
Clinkenbeard, Erica L EL; Farrow, Emily G EG; Summers, Lelia J LJ; Cass, Taryn A TA; Roberts, Jessica L JL; Bayt, Christine A CA; Lahm, Tim T; Albrecht, Marjorie M; Allen, Matthew R MR; Peacock, Munro M; White, Kenneth E KE
Publication Date: 2014-02

Variant appearance in text: FGF23: R176Q
PubMed Link: 23873717
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.

Nature Genetics
Dulak, Austin M AM; Stojanov, Petar P; Peng, Shouyong S; Lawrence, Michael S MS; Fox, Cameron C; Stewart, Chip C; Bandla, Santhoshi S; Imamura, Yu Y; Schumacher, Steven E SE; Shefler, Erica E; McKenna, Aaron A; Carter, Scott L SL; Cibulskis, Kristian K; Sivachenko, Andrey A; Saksena, Gordon G; Voet, Douglas D; Ramos, Alex H AH; Auclair, Daniel D; Thompson, Kristin K; Sougnez, Carrie C; Onofrio, Robert C RC; Guiducci, Candace C; Beroukhim, Rameen R; Zhou, Zhongren Z; Lin, Lin L; Lin, Jules J; Reddy, Rishindra R; Chang, Andrew A; Landrenau, Rodney R; Pennathur, Arjun A; Ogino, Shuji S; Luketich, James D JD; Golub, Todd R TR; Gabriel, Stacey B SB; Lander, Eric S ES; Beer, David G DG; Godfrey, Tony E TE; Getz, Gad G; Bass, Adam J AJ
Publication Date: 2013-05

Variant appearance in text: FGF23: 527G>A; R176Q
PubMed Link: 23525077
Variant Present in the following documents:
  • NIHMS474888-supplement-5.xlsx, sheet 1
View BVdb publication page



Osteocyte regulation of phosphate homeostasis and bone mineralization underlies the pathophysiology of the heritable disorders of rickets and osteomalacia.

Bone
Feng, Jian Q JQ; Clinkenbeard, Erica L EL; Yuan, Baozhi B; White, Kenneth E KE; Drezner, Marc K MK
Publication Date: 2013-06

Variant appearance in text: FGF23: R176Q
PubMed Link: 23403405
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fibroblast growth factor 23 is not associated with and does not induce arterial calcification.

Kidney International
Scialla, Julia J JJ; Lau, Wei Ling WL; Reilly, Muredach P MP; Isakova, Tamara T; Yang, Hsueh-Ying HY; Crouthamel, Matthew H MH; Chavkin, Nicholas W NW; Rahman, Mahboob M; Wahl, Patricia P; Amaral, Ansel P AP; Hamano, Takayuki T; Master, Stephen R SR; Nessel, Lisa L; Chai, Boyang B; Xie, Dawei D; Kallem, Radhakrishna R RR; Chen, Jing J; Lash, James P JP; Kusek, John W JW; Budoff, Matthew J MJ; Giachelli, Cecilia M CM; Wolf, Myles M; ,
Publication Date: 2013-06

Variant appearance in text: FGF23: R176Q
PubMed Link: 23389416
Variant Present in the following documents:
  • Main text
View BVdb publication page