Publications:

---

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: 535C>T; Arg179Trp

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: 535C>T; Arg179Trp

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology

Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y

Publication Date: 2022

Variant appearance in text: FGF23: 535C>T; R179W

PubMed Link: 36505399

Variant Present in the following documents:

• Table_2.xlsx, sheet 2

View BVdb publication page

---

A transcriptional network of cell cycle dysregulation in noninvasive papillary urothelial carcinoma.

Scientific Reports

Warrick, Joshua I JI; Knowles, Margaret A MA; Hurst, Carolyn D CD; Shuman, Lauren L; Raman, Jay D JD; Walter, Vonn V; Putt, Jeffrey J; Dyrskjøt, Lars L; Groeneveld, Clarice C; Castro, Mauro A A MAA; Robertson, A Gordon AG; DeGraff, David J DJ

Publication Date: 2022-10-03

Variant appearance in text: FGF23: 535C>T; R179W

PubMed Link: 36192513

Variant Present in the following documents:

• 41598_2022_20927_MOESM14_ESM.xlsx, sheet 1

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: R179W

PubMed Link: 35016725

Variant Present in the following documents:

• 13256_2021_Article_3220.pdf

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: 535C>T; Arg179Trp; rs28937882

PubMed Link: 34444516

Variant Present in the following documents:

• Main text
• ijerph-18-08771.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: R179W

PubMed Link: 33759783

Variant Present in the following documents:

• Main text
• main.pdf

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: R179W

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: R179W

PubMed Link: 32879300

Variant Present in the following documents:

• 41392_2020_Article_222.pdf

View BVdb publication page

---

The FGF metabolic axis.

Frontiers Of Medicine

Li, Xiaokun X

Publication Date: 2019-10

Variant appearance in text: FGF23: R179W

PubMed Link: 31495905

Variant Present in the following documents:

• 11684_2019_Article_711.pdf

View BVdb publication page

---

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: FGF23: 535C>T; Arg179Trp

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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: R179W

PubMed Link: 29707405

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: FGF23: 535C>T; Arg179Trp

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5

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: R179W

PubMed Link: 27219044

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: FGF23: R179W

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs28937882

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: R179W

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: R179W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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: R179W

PubMed Link: 25862977

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: R179W

PubMed Link: 24790333

Variant Present in the following documents:

• Main text
• cpe-15-129.pdf

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: R179W

PubMed Link: 23403405

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Evidence for FGF23 involvement in a bone-kidney axis regulating bone mineralization and systemic phosphate and vitamin D homeostasis.

Advances In Experimental Medicine And Biology

Martin, Aline A; Quarles, L Darryl LD

Publication Date: 2012

Variant appearance in text: FGF23: R179W

PubMed Link: 22396162

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Farrow, Emily G EG; Yu, Xijie X; Summers, Lelia J LJ; Davis, Siobhan I SI; Fleet, James C JC; Allen, Matthew R MR; Robling, Alexander G AG; Stayrook, Keith R KR; Jideonwo, Victoria V; Magers, Martin J MJ; Garringer, Holly J HJ; Vidal, Ruben R; Chan, Rebecca J RJ; Goodwin, Charles B CB; Hui, Siu L SL; Peacock, Munro M; White, Kenneth E KE

Publication Date: 2011-11-15

Variant appearance in text: FGF23: R179W

PubMed Link: 22006328

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Iron modifies plasma FGF23 differently in autosomal dominant hypophosphatemic rickets and healthy humans.

The Journal Of Clinical Endocrinology And Metabolism

Imel, Erik A EA; Peacock, Munro M; Gray, Amie K AK; Padgett, Leah R LR; Hui, Siu L SL; Econs, Michael J MJ

Publication Date: 2011-11

Variant appearance in text: FGF23: R179W

PubMed Link: 21880793

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets.

Clinical Endocrinology

Ruppe, Mary D MD; Brosnan, Patrick G PG; Au, Kit Sing KS; Tran, Phong X PX; Dominguez, Barbara W BW; Northrup, Hope H

Publication Date: 2011-03

Variant appearance in text: FGF23: 535C>T; rs28937882

PubMed Link: 21050253

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Recent advances in renal phosphate handling.

Nature Reviews. Nephrology

Farrow, Emily G EG; White, Kenneth E KE

Publication Date: 2010-04

Variant appearance in text: FGF23: R179W

PubMed Link: 20177401

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Molecular pathology of the fibroblast growth factor family.

Human Mutation

Krejci, Pavel P; Prochazkova, Jirina J; Bryja, Vitezslav V; Kozubik, Alois A; Wilcox, William R WR

Publication Date: 2009-09

Variant appearance in text: FGF23: 535C>T; R179W

PubMed Link: 19621416

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Endocrine functions of bone in mineral metabolism regulation.

The Journal Of Clinical Investigation

Quarles, L Darryl LD

Publication Date: 2008-12

Variant appearance in text: FGF23: R179W

PubMed Link: 19033649

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis.

American Journal Of Physiology. Endocrinology And Metabolism

Garringer, Holly J HJ; Malekpour, Mahdi M; Esteghamat, Fatemehsadat F; Mortazavi, Seyed M J SM; Davis, Siobhan I SI; Farrow, Emily G EG; Yu, Xijie X; Arking, Dan E DE; Dietz, Harry C HC; White, Kenneth E KE

Publication Date: 2008-10

Variant appearance in text: FGF23: R179W

PubMed Link: 18682534

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Predicting proteolytic sites in extracellular proteins: only halfway there.

Bioinformatics (Oxford, England)

Kliger, Yossef Y; Gofer, Eyal E; Wool, Assaf A; Toporik, Amir A; Apatoff, Avihay A; Olshansky, Moshe M

Publication Date: 2008-04-15

Variant appearance in text: FGF23: R179W

PubMed Link: 18321887

Variant Present in the following documents:

• Main text
• btn084.pdf

View BVdb publication page

---

Biological activity of FGF-23 fragments.

Pflugers Archiv : European Journal Of Physiology

Berndt, Theresa J TJ; Craig, Theodore A TA; McCormick, Daniel J DJ; Lanske, Beate B; Sitara, Despina D; Razzaque, Mohammed S MS; Pragnell, Marlon M; Bowe, Ann E AE; O'Brien, Stephen P SP; Schiavi, Susan C SC; Kumar, Rajiv R

Publication Date: 2007-07

Variant appearance in text: FGF23: R179W

PubMed Link: 17333246

Variant Present in the following documents:

• Main text

View BVdb publication page

---