Publications:

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Association analysis of 10 candidate genes causing Mendelian calcium nephrolithiasis in the INCIPE study: a South European general population cohort.

Clinical Kidney Journal

Santoro, Gloria G; Lombardi, Gianmarco G; Andreola, Stefano S; Salvagno, Gian Luca GL; Treccani, Mirko M; Locatelli, Elena E; Ferraro, Pietro Manuel PM; Lippi, Giuseppe G; Malerba, Giovanni G; Gambaro, Giovanni G

Publication Date: 2023-03

Variant appearance in text: rs114368325

PubMed Link: 36865011

Variant Present in the following documents:

• Main text
• sfac225.pdf

View BVdb publication page

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Case report: Two heterozygous pathogenic variants of CYP24A1: A novel cause of hypercalcemia and nephrocalcinosis in adulthood.

Frontiers In Medicine

Brunerova, Ludmila L; Remes, Ondrej O; Zoubkova, Veronika V; Votypka, Pavel P

Publication Date: 2022

Variant appearance in text: CYP24A1: 1186C>T; Arg396Trp

PubMed Link: 36703897

Variant Present in the following documents:

• Main text
• fmed-09-1020096.pdf

View BVdb publication page

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Vitamin D and Diseases of Mineral Homeostasis: A Cyp24a1 R396W Humanized Preclinical Model of Infantile Hypercalcemia Type 1.

Nutrients

St-Arnaud, René R; Arabian, Alice A; Kavame, Dila D; Kaufmann, Martin M; Jones, Glenville G

Publication Date: 2022-08-06

Variant appearance in text: CYP24A1: R396w

PubMed Link: 35956396

Variant Present in the following documents:

• Main text
• nutrients-14-03221.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: CYP24A1: R396W; rs114368325

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Childhood Hypercalciuric Hypercalcemia With Elevated Vitamin D and Suppressed Parathyroid Hormone: Long-Term Follow Up.

Frontiers In Pediatrics

Gurevich, Evgenia E; Levi, Shelly S; Borovitz, Yael Y; Alfandary, Hadas H; Ganon, Liat L; Dinour, Dganit D; Davidovits, Miriam M

Publication Date: 2021

Variant appearance in text: CYP24A1: 1186C>T; Arg396Trp

PubMed Link: 34858904

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: CYP24A1: 1186C>T; Arg396Trp

PubMed Link: 34805638

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D.

Frontiers In Endocrinology

Molin, Arnaud A; Lemoine, Sandrine S; Kaufmann, Martin M; Breton, Pierre P; Nowoczyn, Marie M; Ballandonne, Céline C; Coudray, Nadia N; Mittre, Hervé H; Richard, Nicolas N; Ryckwaert, Amélie A; Lavillaureix, Alinoe A; Jones, Glenville G; Bacchetta, Justine J; Kottler, Marie-Laure ML

Publication Date: 2021

Variant appearance in text: CYP24A1: 1186C>T; Arg396Trp

PubMed Link: 34721296

Variant Present in the following documents:

• Main text
• fendo-12-736240.pdf

View BVdb publication page

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Abstracts of the 53rd ESPN Annual Meeting, Amsterdam, The Netherlands, September 2021.

Pediatric Nephrology (Berlin, Germany)

Publication Date: 2021-08-25

Variant appearance in text: CYP24A1: 1186C>T; Arg396Trp

PubMed Link: 34432141

Variant Present in the following documents:

• 467_2021_Article_5210.pdf

View BVdb publication page

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24-Hydroxylase Deficiency Due to CYP24A1 Sequence Variants: Comparison With Other Vitamin D-mediated Hypercalcemia Disorders.

Journal Of The Endocrine Society

Azer, Sarah M SM; Vaughan, Lisa E LE; Tebben, Peter J PJ; Sas, David J DJ

Publication Date: 2021-09-01

Variant appearance in text: CYP24A1: 1186C>T; Arg396Trp

PubMed Link: 34337279

Variant Present in the following documents:

• Main text

View BVdb publication page

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High Prevalence of Kidney Cysts in Patients With CYP24A1 Deficiency.

Kidney International Reports

Hanna, Christian C; Potretzke, Theodora A TA; Cogal, Andrea G AG; Mkhaimer, Yaman G YG; Tebben, Peter J PJ; Torres, Vicente E VE; Lieske, John C JC; Harris, Peter C PC; Sas, David J DJ; Milliner, Dawn S DS; Chebib, Fouad T FT

Publication Date: 2021-07

Variant appearance in text: CYP24A1: 1186C>T; Arg396Trp

PubMed Link: 34307984

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: N/A

PubMed Link: 34078906

Variant Present in the following documents:

View BVdb publication page

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Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH).

Molecular Biology Reports

De Bonis, Maria M; De Paolis, Elisa E; Onori, Maria Elisabetta ME; Mazzuccato, Giorgia G; Gatto, Antonio A; Ferrara, Pietro P; Ferraro, Pietro Manuel PM; Urbani, Andrea A; Minucci, Angelo A

Publication Date: 2021-04

Variant appearance in text: CYP24A1: 1186C>T; Arg396Trp; rs114368325

PubMed Link: 33864587

Variant Present in the following documents:

• Main text
• 11033_2021_Article_6324.pdf

View BVdb publication page

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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Genome Medicine

Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A

Publication Date: 2021-03-17

Variant appearance in text: CYP24A1: 1186C>T; Arg396Trp

PubMed Link: 33726816

Variant Present in the following documents:

• 13073_2021_855_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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

Publication Date: 2021-07-23

Variant appearance in text: CYP24A1: R396W

PubMed Link: 33099630

Variant Present in the following documents:

• Main text
• gfaa178.pdf

View BVdb publication page

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Biallelic CYP24A1 variants presenting during pregnancy: clinical and biochemical phenotypes.

Endocrine Connections

Griffin, Tomás P TP; Joyce, Caroline M CM; Alkanderi, Sumaya S; Blake, Liam M LM; O'Keeffe, Derek T DT; Bogdanet, Delia D; Islam, Md Nahidul MN; Dennedy, Michael C MC; Gillan, John E JE; Morrison, John J JJ; O'Brien, Timothy T; Sayer, John A JA; Bell, Marcia M; O'Shea, Paula M PM

Publication Date: 2020-06

Variant appearance in text: CYP24A1: R396W

PubMed Link: 32375123

Variant Present in the following documents:

• Main text
• EC-20-0150.pdf

View BVdb publication page

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The Multifarious Link between Cytochrome P450s and Cancer.

Oxidative Medicine And Cellular Longevity

Alzahrani, Abdullah M AM; Rajendran, Peramaiyan P

Publication Date: 2020

Variant appearance in text: rs114368325

PubMed Link: 31998435

Variant Present in the following documents:

• Main text
• OMCL2020-3028387.pdf

View BVdb publication page

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

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

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: CYP24A1: 1186C>T; Arg396Trp

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

View BVdb publication page

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Intractable hypercalcaemia during pregnancy and the postpartum secondary to pathogenic variants in CYP24A1.

Endocrinology, Diabetes & Metabolism Case Reports

Arnold, Nirusha N; O'Toole, Victor V; Huynh, Tien T; Smith, Howard C HC; Luxford, Catherine C; Clifton-Bligh, Roderick R; Eastman, Creswell J CJ

Publication Date: 2019-11-21

Variant appearance in text: CYP24A1: 1186C>T; Arg396Trp

PubMed Link: 31751313

Variant Present in the following documents:

• Main text
• EDM19-0114.pdf

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: CYP24A1: 1186C>T; Arg396Trp; rs114368325

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Outcomes Following Treatment of Maternal Hypercalcemia Due to CYP24A1 Pathogenic Variants.

Kidney International Reports

McBride, Lucy L; Houlihan, Christine C; Quinlan, Catherine C; Messazos, Betty B; Stark, Zornitza Z; Crosthwaite, Amy A

Publication Date: 2019-06

Variant appearance in text: CYP24A1: 1186C>T; Arg396Trp

PubMed Link: 31194112

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Three Sisters With Heterozygous Gene Variants of CYP24A1: Maternal Hypercalcemia, New-Onset Hypertension, and Neonatal Hypoglycemia.

Journal Of The Endocrine Society

Hedberg, Fredric F; Pilo, Christina C; Wikner, Johan J; Törring, Ove O; Calissendorff, Jan J

Publication Date: 2019-02-01

Variant appearance in text: CYP24A1: Arg396Trp

PubMed Link: 30729229

Variant Present in the following documents:

• Main text
• js.2018-00337.pdf

View BVdb publication page

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Juvenile onset IIH and CYP24A1 mutations.

Bone Reports

Schlingmann, Karl P KP; Cassar, Walburga W; Konrad, Martin M

Publication Date: 2018-12

Variant appearance in text: CYP24A1: R396W; rs114368325

PubMed Link: 30591926

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

Scientific Reports

John, Sumi Elsa SE; Antony, Dinu D; Eaaswarkhanth, Muthukrishnan M; Hebbar, Prashantha P; Channanath, Arshad Mohamed AM; Thomas, Daisy D; Devarajan, Sriraman S; Tuomilehto, Jaakko J; Al-Mulla, Fahd F; Alsmadi, Osama O; Thanaraj, Thangavel Alphonse TA

Publication Date: 2018-11-08

Variant appearance in text: rs114368325

PubMed Link: 30409984

Variant Present in the following documents:

• Main text
• 41598_2018_Article_34815.pdf

View BVdb publication page

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Cytochrome P450: Polymorphisms and Roles in Cancer, Diabetes and Atherosclerosis

Asian Pacific Journal Of Cancer Prevention : Apjcp

Elfaki, Imadeldin I; Mir, Rashid R; Almutairi, Fahad M FM; Duhier, Faisel M Abu FMA

Publication Date: 2018-08-24

Variant appearance in text: rs114368325

PubMed Link: 30139042

Variant Present in the following documents:

• Main text
• APJCP-19-2057.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs114368325

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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CYP24A1 Mutation in a Girl Infant with Idiopathic Infantile Hypercalcemia.

Journal Of Clinical Research In Pediatric Endocrinology

Madsen, Jens Otto Broby JOB; Sauer, Sabrina S; Beck, Bodo B; Johannesen, Jesper J

Publication Date: 2018-03-01

Variant appearance in text: CYP24A1: R396W

PubMed Link: 28874334

Variant Present in the following documents:

• Main text
• JCRPE-10-83.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: CYP24A1: 1186C>T; Arg396Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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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.

Journal Of Applied Genetics

Pronicka, Ewa E; Ciara, Elżbieta E; Halat, Paulina P; Janiec, Agnieszka A; Wójcik, Marek M; Rowińska, Elżbieta E; Rokicki, Dariusz D; Płudowski, Paweł P; Wojciechowska, Ewa E; Wierzbicka, Aldona A; Książyk, Janusz B JB; Jacoszek, Agnieszka A; Konrad, Martin M; Schlingmann, Karl P KP; Litwin, Mieczysław M

Publication Date: 2017-08

Variant appearance in text: CYP24A1: 1186C>T; R396W

PubMed Link: 28470390

Variant Present in the following documents:

• Main text
• 13353_2017_Article_397.pdf

View BVdb publication page

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CYP3A4 Induction by Rifampin: An Alternative Pathway for Vitamin D Inactivation in Patients With CYP24A1 Mutations.

The Journal Of Clinical Endocrinology And Metabolism

Hawkes, Colin Patrick CP; Li, Dong D; Hakonarson, Hakon H; Meyers, Kevin E KE; Thummel, Kenneth E KE; Levine, Michael A MA

Publication Date: 2017-05-01

Variant appearance in text: CYP24A1: 1186C>T; R396W

PubMed Link: 28324001

Variant Present in the following documents:

• Main text

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: CYP24A1: R396W

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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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: CYP24A1: R396W

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Combined sequence and sequence-structure based methods for analyzing FGF23, CYP24A1 and VDR genes.

Meta Gene

Nagamani, Selvaraman S; Singh, Kh Dhanachandra KhD; Muthusamy, Karthikeyan K

Publication Date: 2016-09

Variant appearance in text: CYP24A1: R396W; rs114368325

PubMed Link: 27114920

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Braun, Daniela Anne DA; Lawson, Jennifer Ashley JA; Gee, Heon Yung HY; Halbritter, Jan J; Shril, Shirlee S; Tan, Weizhen W; Stein, Deborah D; Wassner, Ari J AJ; Ferguson, Michael A MA; Gucev, Zoran Z; Fisher, Brittany B; Spaneas, Leslie L; Varner, Jennifer J; Sayer, John A JA; Milosevic, Danko D; Baum, Michelle M; Tasic, Velibor V; Hildebrandt, Friedhelm F

Publication Date: 2016-04-07

Variant appearance in text: CYP24A1: 1186C>T; Arg396Trp

PubMed Link: 26787776

Variant Present in the following documents:

• Main text

View BVdb publication page

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Vitamin D: Metabolism, Molecular Mechanism of Action, and Pleiotropic Effects.

Physiological Reviews

Christakos, Sylvia S; Dhawan, Puneet P; Verstuyf, Annemieke A; Verlinden, Lieve L; Carmeliet, Geert G

Publication Date: 2016-01

Variant appearance in text: CYP24A1: R396W

PubMed Link: 26681795

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs114368325

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: CYP24A1: R396W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Maternal Hypercalcemia Due to Failure of 1,25-Dihydroxyvitamin-D3 Catabolism in a Patient With CYP24A1 Mutations.

The Journal Of Clinical Endocrinology And Metabolism

Shah, Arti D AD; Hsiao, Edward C EC; O'Donnell, Betsy B; Salmeen, Kirsten K; Nussbaum, Robert R; Krebs, Michael M; Baumgartner-Parzer, Sabina S; Kaufmann, Martin M; Jones, Glenville G; Bikle, Daniel D DD; Wang, YongMei Y; Mathew, Allen S AS; Shoback, Dolores D; Block-Kurbisch, Ingrid I

Publication Date: 2015-08

Variant appearance in text: CYP24A1: R396W

PubMed Link: 26097993

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: CYP24A1: R396W; rs114368325

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Quantitation of CYP24A1 enzymatic activity with a simple two-hybrid system.

The Journal Of Clinical Endocrinology And Metabolism

Mugg, Amy A; Legeza, Balazs B; Tee, Meng Kian MK; Damm, Izabella I; Long, Roger K RK; Miller, Walter L WL

Publication Date: 2015-02

Variant appearance in text: CYP24A1: R396W

PubMed Link: 25375986

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: CYP24A1: R396W

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1
• NIHMS551112-supplement-7.xlsx, sheet 1

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Medullary nephrocalcinosis in an adult patient with idiopathic infantile hypercalcaemia and a novel CYP24A1 mutation.

Clinical Kidney Journal

Meusburger, Edgar E; Mündlein, Axel A; Zitt, Emanuel E; Obermayer-Pietsch, Barbara B; Kotzot, Dieter D; Lhotta, Karl K

Publication Date: 2013-04

Variant appearance in text: CYP24A1: R396W

PubMed Link: 24175086

Variant Present in the following documents:

• Main text
• sft008.pdf

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: rs114368325

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

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Cytochromes p450: roles in diseases.

The Journal Of Biological Chemistry

Pikuleva, Irina A IA; Waterman, Michael R MR

Publication Date: 2013-06-14

Variant appearance in text: CYP24A1: R396W

PubMed Link: 23632021

Variant Present in the following documents:

• Main text

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1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Nesterova, Galina G; Malicdan, May Christine MC; Yasuda, Kaori K; Sakaki, Toshiyuki T; Vilboux, Thierry T; Ciccone, Carla C; Horst, Ronald R; Huang, Yan Y; Golas, Gretchen G; Introne, Wendy W; Huizing, Marjan M; Adams, David D; Boerkoel, Cornelius F CF; Collins, Michael T MT; Gahl, William A WA

Publication Date: 2013-04

Variant appearance in text: CYP24A1: R396W; rs114368325

PubMed Link: 23293122

Variant Present in the following documents:

• Main text

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