Publications:

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Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.

Frontiers In Physiology

Bloch-Zupan, Agnes A; Rey, Tristan T; Jimenez-Armijo, Alexandra A; Kawczynski, Marzena M; Kharouf, Naji N; , ; Dure-Molla, Muriel de La M; Noirrit, Emmanuelle E; Hernandez, Magali M; Joseph-Beaudin, Clara C; Lopez, Serena S; Tardieu, Corinne C; Thivichon-Prince, Béatrice B; , ; Dostalova, Tatjana T; Macek, Milan M; , ; Alloussi, Mustapha El ME; Qebibo, Leila L; Morkmued, Supawich S; Pungchanchaikul, Patimaporn P; Orellana, Blanca Urzúa BU; Manière, Marie-Cécile MC; Gérard, Bénédicte B; Bugueno, Isaac Maximiliano IM; Laugel-Haushalter, Virginie V

Publication Date: 2023

Variant appearance in text: FAM20A: 727C>T; Arg243*

PubMed Link: 37228816

Variant Present in the following documents:

• Main text
• fphys-14-1130175.pdf

View BVdb publication page

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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: FAM20A: R243X

PubMed Link: 33759783

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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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: FAM20A: R243*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: FAM20A: 727C>T; R243*

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM4_ESM.xlsx, sheet 1
• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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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: FAM20A: 727C>T; R243*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations.

Orphanet Journal Of Rare Diseases

de la Dure-Molla, Muriel M; Quentric, Mickael M; Yamaguti, Paulo Marcio PM; Acevedo, Ana-Carolina AC; Mighell, Alan J AJ; Vikkula, Miikka M; Huckert, Mathilde M; Berdal, Ariane A; Bloch-Zupan, Agnes A

Publication Date: 2014-06-14

Variant appearance in text: FAM20A: 727C>T; Arg243*

PubMed Link: 24927635

Variant Present in the following documents:

• Main text
• 1750-1172-9-84.pdf

View BVdb publication page

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Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

Nephron. Physiology

Jaureguiberry, Graciana G; De la Dure-Molla, Muriel M; Parry, David D; Quentric, Mickael M; Himmerkus, Nina N; Koike, Toshiyasu T; Poulter, James J; Klootwijk, Enriko E; Robinette, Steven L SL; Howie, Alexander J AJ; Patel, Vaksha V; Figueres, Marie-Lucile ML; Stanescu, Horia C HC; Issler, Naomi N; Nicholson, Jeremy K JK; Bockenhauer, Detlef D; Laing, Christopher C; Walsh, Stephen B SB; McCredie, David A DA; Povey, Sue S; Asselin, Audrey A; Picard, Arnaud A; Coulomb, Aurore A; Medlar, Alan J AJ; Bailleul-Forestier, Isabelle I; Verloes, Alain A; Le Caignec, Cedric C; Roussey, Gwenaelle G; Guiol, Julien J; Isidor, Bertrand B; Logan, Clare C; Shore, Roger R; Johnson, Colin C; Inglehearn, Christopher C; Al-Bahlani, Suhaila S; Schmittbuhl, Matthieu M; Clauss, François F; Huckert, Mathilde M; Laugel, Virginie V; Ginglinger, Emmanuelle E; Pajarola, Sandra S; Spartà, Giuseppina G; Bartholdi, Deborah D; Rauch, Anita A; Addor, Marie-Claude MC; Yamaguti, Paulo M PM; Safatle, Heloisa P HP; Acevedo, Ana Carolina AC; Martelli-Júnior, Hercílio H; dos Santos Netos, Pedro E PE; Coletta, Ricardo D RD; Gruessel, Sandra S; Sandmann, Carolin C; Ruehmann, Denise D; Langman, Craig B CB; Scheinman, Steven J SJ; Ozdemir-Ozenen, Didem D; Hart, Thomas C TC; Hart, P Suzanne PS; Neugebauer, Ute U; Schlatter, Eberhard E; Houillier, Pascal P; Gahl, William A WA; Vikkula, Miikka M; Bloch-Zupan, Agnès A; Bleich, Markus M; Kitagawa, Hiroshi H; Unwin, Robert J RJ; Mighell, Alan A; Berdal, Ariane A; Kleta, Robert R

Publication Date: 2012

Variant appearance in text: FAM20A: 727C>T; R243X

PubMed Link: 23434854

Variant Present in the following documents:

• Main text
• nep-0122-0001.pdf

View BVdb publication page

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