Publications:

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Sporadic parathyroid adenoma: an updated review of molecular genetics.

Frontiers In Endocrinology

Chorti, Angeliki A; Cheva, Angeliki A; Chatzikyriakidou, Anthoula A; Achilla, Charoula C; Boulogeorgou, Kassiani K; Despoina, Krokou K; Milias, Stefanos S; Zarampoukas, Thomas T; Papavramidis, Theodossis T

Publication Date: 2023

Variant appearance in text: GCMB: Y282D

PubMed Link: 37223014

Variant Present in the following documents:

• Main text

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: GCM2: Y282D

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: GCM2: Y282D

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience

Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X

Publication Date: 2022-09-16

Variant appearance in text: GCM2: 844T>G; Y282D

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing.

Frontiers In Endocrinology

Park, Hye-Sun HS; Lee, Yeon Hee YH; Hong, Namki N; Won, Dongju D; Rhee, Yumie Y

Publication Date: 2022

Variant appearance in text: GCM2: Y282D

PubMed Link: 35586626

Variant Present in the following documents:

• fendo-13-853171.pdf

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Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders.

European Journal Of Endocrinology

Canaff, Lucie L; Guarnieri, Vito V; Kim, Yoojung Y; Wong, Betty Y L BYL; Nolin-Lapalme, Alexis A; Cole, David E C DEC; Minisola, Salvatore S; Eller-Vainicher, Cristina C; Cetani, Filomena F; Repaci, Andrea A; Turchetti, Daniela D; Corbetta, Sabrina S; Scillitani, Alfredo A; Goltzman, David D

Publication Date: 2022-02-04

Variant appearance in text: GCM2: Y282D

PubMed Link: 35038313

Variant Present in the following documents:

• Main text
• EJE-21-0433.pdf
• supplementary_table_1.pdf

View BVdb publication page

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The Core Stem Genes SOX2, POU5F1/OCT4, and NANOG Are Expressed in Human Parathyroid Tumors and Modulated by MEN1, YAP1, and β-catenin Pathways Activation.

Biomedicines

Verdelli, Chiara C; Morotti, Annamaria A; Tavanti, Giulia Stefania GS; Silipigni, Rosamaria R; Guerneri, Silvana S; Ferrero, Stefano S; Vicentini, Leonardo L; Vaira, Valentina V; Corbetta, Sabrina S

Publication Date: 2021-06-02

Variant appearance in text: GCM2: Y282D

PubMed Link: 34199594

Variant Present in the following documents:

• biomedicines-09-00637.pdf

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Integrated genomic-metabolic classification of acute myeloid leukemia defines a subgroup with NPM1 and cohesin/DNA damage mutations.

Leukemia

Simonetti, Giorgia G; Mengucci, Carlo C; Padella, Antonella A; Fonzi, Eugenio E; Picone, Gianfranco G; Delpino, Claudio C; Nanni, Jacopo J; De Tommaso, Rossella R; Franchini, Eugenia E; Papayannidis, Cristina C; Marconi, Giovanni G; Pazzaglia, Martina M; Perricone, Margherita M; Scarpi, Emanuela E; Fontana, Maria Chiara MC; Bruno, Samantha S; Tebaldi, Michela M; Ferrari, Anna A; Bochicchio, Maria Teresa MT; Ghelli Luserna Di Rorà, Andrea A; Ghetti, Martina M; Napolitano, Roberta R; Astolfi, Annalisa A; Baldazzi, Carmen C; Guadagnuolo, Viviana V; Ottaviani, Emanuela E; Iacobucci, Ilaria I; Cavo, Michele M; Castellani, Gastone G; Haferlach, Torsten T; Remondini, Daniel D; Capozzi, Francesco F; Martinelli, Giovanni G

Publication Date: 2021-10

Variant appearance in text: GCM2: Y282D; rs61734277

PubMed Link: 34193978

Variant Present in the following documents:

• 41375_2021_1318_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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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: GCM2: Tyr282Asp

PubMed Link: 33536578

Variant Present in the following documents:

• Main text
• 41598_2021_Article_82661.pdf

View BVdb publication page

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Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics

Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS

Publication Date: 2019

Variant appearance in text: GCM2: Y282D; rs61734277

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: GCM2: Y282D; rs61734277

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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New Concepts About Familial Isolated Hyperparathyroidism.

The Journal Of Clinical Endocrinology And Metabolism

Marx, Stephen J SJ

Publication Date: 2019-03-08

Variant appearance in text: GCM2: Y282D

PubMed Link: 30848815

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gcm2 regulates the maintenance of parathyroid cells in adult mice.

Plos One

Yamada, Taku T; Tatsumi, Norifumi N; Anraku, Akane A; Suzuki, Hideaki H; Kamejima, Sahoko S; Uchiyama, Taketo T; Ohkido, Ichiro I; Yokoo, Takashi T; Okabe, Masataka M

Publication Date: 2019

Variant appearance in text: GCM2: Y282D

PubMed Link: 30677043

Variant Present in the following documents:

• pone.0210662.pdf

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: GCM2: Y282D; rs61734277

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: GCM2: Y282D; rs61734277

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3
• 41467_2017_2688_MOESM14_ESM.xls, sheet 4
• 41467_2017_2688_MOESM20_ESM.xlsx, sheet 2

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Specifying the molecular pattern of sporadic parathyroid tumorigenesis-The Y282D variant of the GCM2 gene.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie

Marchiori, Elena E; Pelizzo, Maria Rosa MR; Herten, Monika M; Townsend, Danyelle M DM; Rubello, Domenico D; Boschin, Isabella Merante IM

Publication Date: 2017-08

Variant appearance in text: GCM2: 844T>G; rs61734277

PubMed Link: 28609842

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: GCM2: Y282D; rs61734277

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

View BVdb publication page

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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: GCM2: 844T>G; Tyr282Asp

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

View BVdb publication page

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GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.

American Journal Of Human Genetics

Guan, Bin B; Welch, James M JM; Sapp, Julie C JC; Ling, Hua H; Li, Yulong Y; Johnston, Jennifer J JJ; Kebebew, Electron E; Biesecker, Leslie G LG; Simonds, William F WF; Marx, Stephen J SJ; Agarwal, Sunita K SK

Publication Date: 2016-11-03

Variant appearance in text: GCM2: 844T>G

PubMed Link: 27745835

Variant Present in the following documents:

• Main text

View BVdb publication page

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Calcium-Sensing Receptor Gene: Regulation of Expression.

Frontiers In Physiology

Hendy, Geoffrey N GN; Canaff, Lucie L

Publication Date: 2016

Variant appearance in text: GCM2: Y282D

PubMed Link: 27679579

Variant Present in the following documents:

• Main text
• fphys-07-00394.pdf

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: rs61734277

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: GCM2: Y282D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: GCM2: Y282D; rs61734277

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 1

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: GCM2: Y282D; rs61734277

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Mutational analysis of GCMB, a parathyroid-specific transcription factor, in parathyroid adenoma of primary hyperparathyroidism.

The Journal Of Endocrinology

Mannstadt, Michael M; Holick, Emily E; Zhao, Wenping W; Jüppner, Harald H

Publication Date: 2011-08

Variant appearance in text: GCMB: 844T>G

PubMed Link: 21642377

Variant Present in the following documents:

• Main text

View BVdb publication page

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