Publications:

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Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2.

Frontiers In Endocrinology

Vado, Yerai Y; Pereda, Arrate A; Manero-Azua, Africa A; , ; Perez de Nanclares, Guiomar G

Publication Date: 2022

Variant appearance in text: rs7121

PubMed Link: 36686455

Variant Present in the following documents:

• Main text
• fendo-13-1055431.pdf

View BVdb publication page

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Exploring prognostic indicators in the pathological images of ovarian cancer based on a deep survival network.

Frontiers In Genetics

Wu, Meixuan M; Zhu, Chengguang C; Yang, Jiani J; Cheng, Shanshan S; Yang, Xiaokang X; Gu, Sijia S; Xu, Shilin S; Wu, Yongsong Y; Shen, Wei W; Huang, Shan S; Wang, Yu Y

Publication Date: 2022

Variant appearance in text: GNAS: 393C>G; Y131*

PubMed Link: 36685892

Variant Present in the following documents:

• Table2.xlsx, sheet 1

View BVdb publication page

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The Role of Single-Nucleotide Polymorphisms in Cholangiocarcinoma: A Systematic Review.

Cancers

Wang, Guanwu G; Heij, Lara Rosaline LR; Liu, Dong D; Dahl, Edgar E; Lang, Sven Arke SA; Ulmer, Tom Florian TF; Luedde, Tom T; Neumann, Ulf Peter UP; Bednarsch, Jan J

Publication Date: 2022-12-02

Variant appearance in text: rs7121

PubMed Link: 36497451

Variant Present in the following documents:

• Main text
• cancers-14-05969.pdf

View BVdb publication page

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

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

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: rs7121

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

View BVdb publication page

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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: rs7121

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs7121

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: rs7121

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Associations of GNAS and RGS Gene Polymorphisms with the Risk of Ritodrine-Induced Adverse Events in Korean Women with Preterm Labor: A Cohort Study.

Pharmaceutics

Jang, Eun-Jeong EJ; Kim, Young-Ju YJ; Hwang, Han-Sung HS; Yee, Jeong J; Gwak, Hye-Sun HS

Publication Date: 2022-06-08

Variant appearance in text: rs7121

PubMed Link: 35745791

Variant Present in the following documents:

• Main text
• pharmaceutics-14-01220.pdf

View BVdb publication page

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Towards Understanding the Genetic Nature of Vasovagal Syncope.

International Journal Of Molecular Sciences

Matveeva, Natalia N; Titov, Boris B; Bazyleva, Elizabeth E; Pevzner, Alexander A; Favorova, Olga O

Publication Date: 2021-09-24

Variant appearance in text: rs7121

PubMed Link: 34638656

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gene polymorphisms of insulin secretion signaling pathway associated with clopidogrel resistance in Han Chinese population.

Journal Of Clinical Laboratory Analysis

Zhong, Jinyan J; Yu, Qinglin Q; Zheng, Nan N; Su, Jia J; Zheng, Xiaowei X; Zheng, Liangrong L; Chen, Xiaomin X

Publication Date: 2021-11

Variant appearance in text: rs7121

PubMed Link: 34609028

Variant Present in the following documents:

• Main text
• JCLA-35-e23970.pdf

View BVdb publication page

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Maternal GNAS Contributes to the Extra-Large G Protein α-Subunit (XLαs) Expression in a Cell Type-Specific Manner.

Frontiers In Genetics

Cui, Quixia Q; Aksu, Cagri C; Ay, Birol B; Remillard, Claire E CE; Plagge, Antonius A; Gardezi, Mina M; Dunlap, Margaret M; Gerstenfeld, Louis C LC; He, Qing Q; Bastepe, Murat M

Publication Date: 2021

Variant appearance in text: rs7121

PubMed Link: 34220953

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Gain-of-Function p53 R248W Mutant Promotes Migration by STAT3 Deregulation in Human Pancreatic Cancer Cells.

Frontiers In Oncology

Klemke, Luisa L; Fehlau, Clara F CF; Winkler, Nadine N; Toboll, Felicia F; Singh, Shiv K SK; Moll, Ute M UM; Schulz-Heddergott, Ramona R

Publication Date: 2021

Variant appearance in text: rs7121

PubMed Link: 34178628

Variant Present in the following documents:

• DataSheet_1.pdf

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs7121

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs7121

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Selected neuropeptide genes show genetic differentiation between Africans and non-Africans.

Bmc Genetics

Tai, Kah Yee KY; Wong, KokSheik K; Aghakhanian, Farhang F; Parhar, Ishwar S IS; Dhaliwal, Jasbir J; Ayub, Qasim Q

Publication Date: 2020-03-14

Variant appearance in text: rs7121

PubMed Link: 32171244

Variant Present in the following documents:

• Main text
• 12863_2020_Article_835.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: rs7121

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Development of an Integrated Platform Using Multidisciplinary Real-World Data to Facilitate Biomarker Discovery for Medical Products.

Clinical And Translational Science

Dabic, Stefan S; Azarbaijani, Yasameen Y; Karapetyan, Tigran T; Loyo-Berrios, Nilsa N; Simonyan, Vahan V; Kitchner, Terrie T; Brilliant, Murray M; Torosyan, Yelizaveta Y

Publication Date: 2020-01

Variant appearance in text: rs7121

PubMed Link: 31386280

Variant Present in the following documents:

• Main text
• CTS-13-98.pdf

View BVdb publication page

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Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets.

Nature Communications

Newell, Felicity F; Kong, Yan Y; Wilmott, James S JS; Johansson, Peter A PA; Ferguson, Peter M PM; Cui, Chuanliang C; Li, Zhongwu Z; Kazakoff, Stephen H SH; Burke, Hazel H; Dodds, Tristan J TJ; Patch, Ann-Marie AM; Nones, Katia K; Tembe, Varsha V; Shang, Ping P; van der Weyden, Louise L; Wong, Kim K; Holmes, Oliver O; Lo, Serigne S; Leonard, Conrad C; Wood, Scott S; Xu, Qinying Q; Rawson, Robert V RV; Mukhopadhyay, Pamela P; Dummer, Reinhard R; Levesque, Mitchell P MP; Jönsson, Göran G; Wang, Xuan X; Yeh, Iwei I; Wu, Hong H; Joseph, Nancy N; Bastian, Boris C BC; Long, Georgina V GV; Spillane, Andrew J AJ; Shannon, Kerwin F KF; Thompson, John F JF; Saw, Robyn P M RPM; Adams, David J DJ; Si, Lu L; Pearson, John V JV; Hayward, Nicholas K NK; Waddell, Nicola N; Mann, Graham J GJ; Guo, Jun J; Scolyer, Richard A RA

Publication Date: 2019-07-18

Variant appearance in text: rs7121

PubMed Link: 31320640

Variant Present in the following documents:

• 41467_2019_11107_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Genetics and the heart rate response to exercise.

Cellular And Molecular Life Sciences : Cmls

van de Vegte, Yordi J YJ; Tegegne, Balewgizie S BS; Verweij, Niek N; Snieder, Harold H; van der Harst, Pim P

Publication Date: 2019-06

Variant appearance in text: rs7121

PubMed Link: 30919020

Variant Present in the following documents:

• Main text
• 18_2019_Article_3079.pdf

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs7121

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs7121

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Sex-specific association of a common GNAS polymorphism with self-reported cognitive empathy in healthy volunteers.

Plos One

Huetter, Franz Korbinian FK; Horn, Peter Alexander PA; Siffert, Winfried W

Publication Date: 2018

Variant appearance in text: rs7121

PubMed Link: 30365517

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: rs7121

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

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XenofilteR: computational deconvolution of mouse and human reads in tumor xenograft sequence data.

Bmc Bioinformatics

Kluin, Roelof J C RJC; Kemper, Kristel K; Kuilman, Thomas T; de Ruiter, Julian R JR; Iyer, Vivek V; Forment, Josep V JV; Cornelissen-Steijger, Paulien P; de Rink, Iris I; Ter Brugge, Petra P; Song, Ji-Ying JY; Klarenbeek, Sjoerd S; McDermott, Ultan U; Jonkers, Jos J; Velds, Arno A; Adams, David J DJ; Peeper, Daniel S DS; Krijgsman, Oscar O

Publication Date: 2018-10-04

Variant appearance in text: rs7121

PubMed Link: 30286710

Variant Present in the following documents:

• Main text

View BVdb publication page

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Associations between the maternal circulating lipid profile in pregnancy and fetal imprinted gene alleles: a cohort study.

Reproductive Biology And Endocrinology : Rb&E

Petry, Clive J CJ; Koulman, Albert A; Lu, Liangjian L; Jenkins, Benjamin B; Furse, Samuel S; Prentice, Philippa P; Matthews, Lee L; Hughes, Ieuan A IA; Acerini, Carlo L CL; Ong, Ken K KK; Dunger, David B DB

Publication Date: 2018-08-29

Variant appearance in text: rs7121

PubMed Link: 30157874

Variant Present in the following documents:

• Main text
• 12958_2018_Article_399.pdf

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: rs7121

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 3

View BVdb publication page

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No Association of CALCA Polymorphisms and Aseptic Loosening after Primary Total Hip Arthroplasty.

Biomed Research International

Aydin-Yüce, Tünay T; Kurscheid, Gina G; Bachmann, Hagen Sjard HS; Gehrke, Thorsten T; Dudda, Marcel M; Jäger, Markus M; Wedemeyer, Christian C; Kauther, Max Daniel MD

Publication Date: 2018

Variant appearance in text: rs7121

PubMed Link: 29967770

Variant Present in the following documents:

• Main text
• BMRI2018-3687415.pdf

View BVdb publication page

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Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.

Cold Spring Harbor Molecular Case Studies

Suarez-Kelly, Lorena P LP; Akagi, Keiko K; Reeser, Julie W JW; Samorodnitsky, Eric E; Reeder, Matthew M; Smith, Amy A; Roychowdhury, Sameek S; Symer, David E DE; Carson, William E WE

Publication Date: 2018-04

Variant appearance in text: rs7121

PubMed Link: 29449315

Variant Present in the following documents:

• supp_mcs.a002352_Supplemental_Table_3.xls, sheet 1

View BVdb publication page

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Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.

Molecular Cytogenetics

Smetana, Jan J; Oppelt, Jan J; Štork, Martin M; Pour, Luděk L; Kuglík, Petr P

Publication Date: 2018

Variant appearance in text: rs7121

PubMed Link: 29375670

Variant Present in the following documents:

• 13039_2018_357_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Relationship between GNAS1 T393C polymorphism and aseptic loosening after total hip arthroplasty.

European Journal Of Medical Research

Stelmach, Patrick P; Kauther, Max D MD; Fuest, Lena L; Kurscheid, Gina G; Gehrke, Thorsten T; Klenke, Stefanie S; Jäger, Marcus M; Wedemeyer, Christian C; Bachmann, Hagen S HS

Publication Date: 2017-08-23

Variant appearance in text: rs7121

PubMed Link: 28830502

Variant Present in the following documents:

• Main text
• 40001_2017_Article_271.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs7121

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Inherited variants in genes somatically mutated in thyroid cancer.

Plos One

Campo, Chiara C; Köhler, Aleksandra A; Figlioli, Gisella G; Elisei, Rossella R; Romei, Cristina C; Cipollini, Monica M; Bambi, Franco F; Hemminki, Kari K; Gemignani, Federica F; Landi, Stefano S; Försti, Asta A

Publication Date: 2017

Variant appearance in text: rs7121

PubMed Link: 28410400

Variant Present in the following documents:

• Main text
• pone.0174995.pdf

View BVdb publication page

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Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.

Clinical Epigenetics

Rochtus, Anne A; Martin-Trujillo, Alejandro A; Izzi, Benedetta B; Elli, Francesca F; Garin, Intza I; Linglart, Agnes A; Mantovani, Giovanna G; Perez de Nanclares, Guiomar G; Thiele, Suzanne S; Decallonne, Brigitte B; Van Geet, Chris C; Monk, David D; Freson, Kathleen K

Publication Date: 2016

Variant appearance in text: rs7121

PubMed Link: 26819647

Variant Present in the following documents:

• Main text
• 13148_2016_Article_175.pdf

View BVdb publication page

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Principles Governing A-to-I RNA Editing in the Breast Cancer Transcriptome.

Cell Reports

Fumagalli, Debora D; Gacquer, David D; Rothé, Françoise F; Lefort, Anne A; Libert, Frederick F; Brown, David D; Kheddoumi, Naima N; Shlien, Adam A; Konopka, Tomasz T; Salgado, Roberto R; Larsimont, Denis D; Polyak, Kornelia K; Willard-Gallo, Karen K; Desmedt, Christine C; Piccart, Martine M; Abramowicz, Marc M; Campbell, Peter J PJ; Sotiriou, Christos C; Detours, Vincent V

Publication Date: 2015-10-13

Variant appearance in text: rs7121

PubMed Link: 26440892

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Variants of SCARB1 and VDR Involved in Complex Genetic Interactions May Be Implicated in the Genetic Susceptibility to Clear Cell Renal Cell Carcinoma.

Biomed Research International

Pośpiech, Ewelina E; Ligęza, Janusz J; Wilk, Wacław W; Gołas, Aniela A; Jaszczyński, Janusz J; Stelmach, Andrzej A; Ryś, Janusz J; Blecharczyk, Aleksandra A; Wojas-Pelc, Anna A; Jura, Jolanta J; Branicki, Wojciech W

Publication Date: 2015

Variant appearance in text: rs7121

PubMed Link: 25945350

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus.

Plos One

Perez-Nanclares, Gustavo G; Velayos, Teresa T; Vela, Amaya A; Muñoz-Torres, Manuel M; Castaño, Luis L

Publication Date: 2015

Variant appearance in text: rs7121

PubMed Link: 25710380

Variant Present in the following documents:

• Main text
• pone.0117691.pdf

View BVdb publication page

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TT genotype of GNAS1 T393C polymorphism predicts better outcome of advanced non-small cell lung cancer patients.

World Journal Of Gastrointestinal Oncology

Gong, Hong-Yun HY; Hu, Wei-Guo WG; Wang, Xiu-Ling XL; Zhu, Fan F; Song, Qin-Bin QB

Publication Date: 2014-12-15

Variant appearance in text: rs7121

PubMed Link: 25516778

Variant Present in the following documents:

• Main text

View BVdb publication page

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Oxidative stress in susceptibility to breast cancer: study in Spanish population.

Bmc Cancer

Rodrigues, Patricia P; de Marco, Griselda G; Furriol, Jessica J; Mansego, Maria Luisa ML; Pineda-Alonso, Mónica M; Gonzalez-Neira, Anna A; Martin-Escudero, Juan Carlos JC; Benitez, Javier J; Lluch, Ana A; Chaves, Felipe J FJ; Eroles, Pilar P

Publication Date: 2014-11-21

Variant appearance in text: rs7121

PubMed Link: 25416100

Variant Present in the following documents:

• Main text
• 12885_2014_Article_5048.pdf

View BVdb publication page

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Methylation and transcripts expression at the imprinted GNAS locus in human embryonic and induced pluripotent stem cells and their derivatives.

Stem Cell Reports

Grybek, Virginie V; Aubry, Laetitia L; Maupetit-Méhouas, Stéphanie S; Le Stunff, Catherine C; Denis, Cécile C; Girard, Mathilde M; Linglart, Agnès A; Silve, Caroline C

Publication Date: 2014-09-09

Variant appearance in text: rs7121

PubMed Link: 25241742

Variant Present in the following documents:

• Main text

View BVdb publication page

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A systematic review and meta-analysis of somatic and germline DNA sequence biomarkers of esophageal cancer survival, therapy response and stage.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology

Findlay, J M JM; Middleton, M R MR; Tomlinson, I I

Publication Date: 2015-04

Variant appearance in text: rs7121

PubMed Link: 25214541

Variant Present in the following documents:

• Main text
• mdu449.pdf

View BVdb publication page

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: rs7121

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: rs7121

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1
• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

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Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.

The Journal Of Clinical Endocrinology And Metabolism

Richard, Nicolas N; Molin, Arnaud A; Coudray, Nadia N; Rault-Guillaume, Pauline P; Jüppner, Harald H; Kottler, Marie-Laure ML

Publication Date: 2013-09

Variant appearance in text: rs7121

PubMed Link: 23884777

Variant Present in the following documents:

• Main text

View BVdb publication page

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A comparison of the genetic and clinical profile of men that respond and do not respond to the immediate antihypertensive effects of aerobic exercise.

The Application Of Clinical Genetics

Pescatello, Linda S LS; Blanchard, Bruce E BE; Tsongalis, Gregory J GJ; O'Connell, Ann A AA; Gordish-Dressman, Heather H; Maresh, Carl M CM; Thompson, Paul D PD

Publication Date: 2008

Variant appearance in text: rs7121

PubMed Link: 23776343

Variant Present in the following documents:

• Main text

View BVdb publication page

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dsPIG: a tool to predict imprinted genes from the deep sequencing of whole transcriptomes.

Bmc Bioinformatics

Li, Hua H; Su, Xiao X; Gallegos, Juan J; Lu, Yue Y; Ji, Yuan Y; Molldrem, Jeffrey J JJ; Liang, Shoudan S

Publication Date: 2012-10-19

Variant appearance in text: rs7121

PubMed Link: 23083219

Variant Present in the following documents:

• Main text
• 1471-2105-13-271.pdf

View BVdb publication page

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A novel gene-environment interaction involved in endometriosis.

International Journal Of Gynaecology And Obstetrics: The Official Organ Of The International Federation Of Gynaecology And Obstetrics

McCarty, Catherine A CA; Berg, Richard L RL; Welter, Joseph D JD; Kitchner, Terrie E TE; Kemnitz, Joseph W JW

Publication Date: 2012-01

Variant appearance in text: rs7121

PubMed Link: 22024213

Variant Present in the following documents:

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Gender-stratified gene and gene-treatment interactions in smoking cessation.

The Pharmacogenomics Journal

Lee, W W; Bergen, A W AW; Swan, G E GE; Li, D D; Liu, J J; Thomas, P P; Tyndale, R F RF; Benowitz, N L NL; Lerman, C C; Conti, D V DV

Publication Date: 2012-12

Variant appearance in text: rs7121

PubMed Link: 21808284

Variant Present in the following documents:

• NIHMS305090-supplement-3.pdf

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Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study.

Journal Of Epidemiology

Wakai, Kenji K; Hamajima, Nobuyuki N; Okada, Rieko R; Naito, Mariko M; Morita, Emi E; Hishida, Asahi A; Kawai, Sayo S; Nishio, Kazuko K; Yin, Guang G; Asai, Yatami Y; Matsuo, Keitaro K; Hosono, Satoyo S; Ito, Hidemi H; Watanabe, Miki M; Kawase, Takakazu T; Suzuki, Takeshi T; Tajima, Kazuo K; Tanaka, Keitaro K; Higaki, Yasuki Y; Hara, Megumi M; Imaizumi, Takeshi T; Taguchi, Naoto N; Nakamura, Kazuyo K; Nanri, Hinako H; Sakamoto, Tatsuhiko T; Horita, Mikako M; Shinchi, Koichi K; Kita, Yoshikuni Y; Turin, Tanvir Chowdhury TC; Rumana, Nahid N; Matsui, Kenji K; Miura, Katsuyuki K; Ueshima, Hirotsugu H; Takashima, Naoyuki N; Nakamura, Yasuyuki Y; Suzuki, Sadao S; Ando, Ryosuke R; Hosono, Akihiro A; Imaeda, Nahomi N; Shibata, Kiyoshi K; Goto, Chiho C; Hattori, Nami N; Fukatsu, Mitsuru M; Yamada, Tamaki T; Tokudome, Shinkan S; Takezaki, Toshiro T; Niimura, Hideshi H; Hirasada, Kazuyo K; Nakamura, Akihiko A; Tatebo, Masaya M; Ogawa, Shin S; Tsunematsu, Noriko N; Chiba, Shirabe S; Mikami, Haruo H; Kono, Suminori S; Ohnaka, Keizo K; Takayanagi, Ryoichi R; Watanabe, Yoshiyuki Y; Ozaki, Etsuko E; Shigeta, Masako M; Kuriyama, Nagato N; Yoshikawa, Aya A; Matsui, Daisuke D; Watanabe, Isao I; Inoue, Kaoru K; Ozasa, Kotaro K; Mitani, Satoko S; Arisawa, Kokichi K; Uemura, Hirokazu H; Hiyoshi, Mineyoshi M; Takami, Hidenobu H; Yamaguchi, Miwa M; Nakamoto, Mariko M; Takeda, Hideo H; Kubo, Michiaki M; Tanaka, Hideo H; ,

Publication Date: 2011

Variant appearance in text: rs7121

PubMed Link: 21467728

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Gastrointestinal polyps in McCune Albright syndrome.

Journal Of Medical Genetics

Zacharin, Margaret M; Bajpai, Anurag A; Chow, Chung Wo CW; Catto-Smith, Anthony A; Stratakis, Constantine C; Wong, Michelle W MW; Scott, Rodney R

Publication Date: 2011-07

Variant appearance in text: rs7121

PubMed Link: 21357941

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Evaluation of allelic expression of imprinted genes in adult human blood.

Plos One

Frost, Jennifer M JM; Monk, Dave D; Stojilkovic-Mikic, Taita T; Woodfine, Kathryn K; Chitty, Lyn S LS; Murrell, Adele A; Stanier, Philip P; Moore, Gudrun E GE

Publication Date: 2010-10-21

Variant appearance in text: rs7121

PubMed Link: 21042416

Variant Present in the following documents:

• Main text

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Potent constitutive cyclic AMP-generating activity of XLαs implicates this imprinted GNAS product in the pathogenesis of McCune-Albright syndrome and fibrous dysplasia of bone.

Bone

Mariot, Virginie V; Wu, Joy Y JY; Aydin, Cumhur C; Mantovani, Giovanna G; Mahon, Matthew J MJ; Linglart, Agnès A; Bastepe, Murat M

Publication Date: 2011-02

Variant appearance in text: rs7121

PubMed Link: 20887824

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The effects of culture on genomic imprinting profiles in human embryonic and fetal mesenchymal stem cells.

Epigenetics

Frost, Jennifer J; Monk, Dave D; Moschidou, Dafni D; Guillot, Pascale V PV; Stanier, Philip P; Minger, Stephen L SL; Fisk, Nicholas M NM; Moore, Harry D HD; Moore, Gudrun E GE

Publication Date: 2011-01

Variant appearance in text: rs7121

PubMed Link: 20864803

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• Main text

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Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.

Bmc Genetics

Cross, Deanna S DS; Ivacic, Lynn C LC; Stefanski, Elisha L EL; McCarty, Catherine A CA

Publication Date: 2010-06-17

Variant appearance in text: rs7121

PubMed Link: 20565774

Variant Present in the following documents:

• Main text
• 1471-2156-11-51.pdf

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