RET c.135A>C ;(p.A45=)

Variant ID: 10-43595968-A-C

NM_020975.4(RET):c.135A>C;(p.A45=)

This variant was identified in 78 publications

View GRCh38 version.




Publications:


The Role of Genetic Polymorphisms in Differentiated Thyroid Cancer: A 2023 Update.

Biomedicines
Tiucă, Robert Aurelian RA; Tiucă, Oana Mirela OM; Pașcanu, Ionela Maria IM
Publication Date: 2023-04-02

Variant appearance in text: rs1800858
PubMed Link: 37189693
Variant Present in the following documents:
  • Main text
  • biomedicines-11-01075.pdf
View BVdb publication page



Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: RET: A45A; rs1800858
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: N/A
PubMed Link: 36467812
Variant Present in the following documents:
View BVdb publication page



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: N/A
PubMed Link: 36241656
Variant Present in the following documents:
View BVdb publication page



A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.

Frontiers In Molecular Biosciences
Ng, Cedric Chuan-Young CC; Lim, Sandy S; Lim, Abner Herbert AH; Md Nasir, Nur Diyana ND; Zhang, Jingxian J; Rajasegaran, Vikneswari V; Lee, Jing Yi JY; Kok, Jessica Sook Ting JST; Thike, Aye Aye AA; Lim, Johnathan Xiande JX; Weng, Ruifen R; Yee, Sidney S; Choudhury, Yukti Y; Chan, Jason Yongsheng JY; Tan, Puay Hoon PH; Tan, Min-Han MH; Teh, Bin Tean BT
Publication Date: 2022

Variant appearance in text: RET: A45A
PubMed Link: 36213130
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 10
View BVdb publication page



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: N/A
PubMed Link: 36075891
Variant Present in the following documents:
View BVdb publication page



Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics
Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y
Publication Date: 2022

Variant appearance in text: RET: Ala45Ala; rs1800858
PubMed Link: 35899134
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Plos One
Ueda, Atsushi A; Osawa, Motoki M; Naito, Haruaki H; Ochiai, Eriko E; Kakimoto, Yu Y
Publication Date: 2022

Variant appearance in text: RET: Ala45=; rs1800858
PubMed Link: 35486589
Variant Present in the following documents:
  • pone.0267751.s001.xls, sheet 1
View BVdb publication page



Is There Any Mosaicism in REarranged During Transfection Variant in Hirschsprung Disease's Patients?

Frontiers In Pediatrics
Iskandar, Kristy K; Simanjaya, Susan S; Indrawan, Taufik T; Kalim, Alvin Santoso AS; Marcellus, ; Heriyanto, Didik Setyo DS; Gunadi,
Publication Date: 2022

Variant appearance in text: rs1800858
PubMed Link: 35359901
Variant Present in the following documents:
  • Main text
  • fped-10-842820.pdf
View BVdb publication page



Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05

Variant appearance in text: RET: A45A; rs1800858
PubMed Link: 35246724
Variant Present in the following documents:
  • 432_2022_3944_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Distribution of RET proto-oncogene variants in children with appendicitis.

Molecular Genetics & Genomic Medicine
Schultz, Jurek J; Freibothe, Ines I; Haase, Michael M; Glatte, Patrick P; Barreton, Gustavo G; Ziegler, Andreas A; Görgens, Heike H; Fitze, Guido G
Publication Date: 2022-01-03

Variant appearance in text: rs1800858
PubMed Link: 34981673
Variant Present in the following documents:
  • Main text
View BVdb publication page



Distribution of RET proto-oncogene variants in children with appendicitis.

Molecular Genetics & Genomic Medicine
Schultz, Jurek J; Freibothe, Ines I; Haase, Michael M; Glatte, Patrick P; Barreton, Gustavo G; Ziegler, Andreas A; Görgens, Heike H; Fitze, Guido G
Publication Date: 2022-02

Variant appearance in text: rs1800858
PubMed Link: 34981673
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Variants Associated with Thyroid Cancer Risk: Comprehensive Research Synopsis, Meta-Analysis, and Cumulative Epidemiological Evidence.

Journal Of Oncology
Ran, Ran R; Tu, Gang G; Li, Hui H; Wang, Hao H; Mou, Exian E; Liu, Caiyang C
Publication Date: 2021

Variant appearance in text: N/A
PubMed Link: 34950210
Variant Present in the following documents:
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: RET: A45A; rs1800858
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Bmc Medical Genomics
Fu, Weijia W; Huang, Aijie A; Cheng, Hui H; Luo, Yanrong Y; Gao, Lei L; Tang, Gusheng G; Yang, Jianmin J; Wang, Jianmin J; Ni, Xiong X
Publication Date: 2021-05-17

Variant appearance in text: N/A
PubMed Link: 34001105
Variant Present in the following documents:
View BVdb publication page



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: N/A
PubMed Link: 33791233
Variant Present in the following documents:
View BVdb publication page



Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05

Variant appearance in text: RET: Ala45=; rs1800858
PubMed Link: 33674644
Variant Present in the following documents:
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: RET: A45A; rs1800858
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



High-Throughput Sequencing of Gastric Cancer Patients: Unravelling Genetic Predispositions Towards an Early-Onset Subtype.

Cancers
Machlowska, Julita J; Kapusta, Przemysław P; Baj, Jacek J; Morsink, Folkert H M FHM; Wołkow, Paweł P; Maciejewski, Ryszard R; Offerhaus, G Johan A GJA; Sitarz, Robert R
Publication Date: 2020-07-21

Variant appearance in text: rs1800858
PubMed Link: 32708070
Variant Present in the following documents:
  • Main text
  • cancers-12-01981.pdf
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: N/A
PubMed Link: 32529721
Variant Present in the following documents:
View BVdb publication page



miR-618 rs2682818 C>A polymorphism decreases Hirschsprung disease risk in Chinese children.

Bioscience Reports
Zheng, Yi Y; Lu, Tongyi T; Xie, Xiaoli X; He, Qiuming Q; Lu, Lifeng L; Zhong, Wei W
Publication Date: 2020-05-29

Variant appearance in text: rs1800858
PubMed Link: 32364585
Variant Present in the following documents:
  • Main text
  • bsr-40-bsr20193989.pdf
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: RET: A45A; rs1800858
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Genome landscapes of rectal cancer before and after preoperative chemoradiotherapy.

Theranostics
Yang, Jie J; Lin, Yuan Y; Huang, Ying Y; Jin, Jing J; Zou, Shuangmei S; Zhang, Xiaolong X; Li, Hongmin H; Feng, Ting T; Chen, Jinna J; Zuo, Zhixiang Z; Zheng, Jian J; Li, Yexiong Y; Gao, Ge G; Wu, Chen C; Tan, Wen W; Lin, Dongxin D
Publication Date: 2019

Variant appearance in text: RET: A45A
PubMed Link: 31660073
Variant Present in the following documents:
  • thnov09p6856s2.xlsx, sheet 7
View BVdb publication page



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: N/A
PubMed Link: 31640808
Variant Present in the following documents:
View BVdb publication page



Introducing the first whole genomes of nationals from the United Arab Emirates.

Scientific Reports
AlSafar, Habiba S HS; Al-Ali, Mariam M; Elbait, Gihan Daw GD; Al-Maini, Mustafa H MH; Ruta, Dymitr D; Peramo, Braulio B; Henschel, Andreas A; Tay, Guan K GK
Publication Date: 2019-10-11

Variant appearance in text: rs1800858
PubMed Link: 31604968
Variant Present in the following documents:
  • 41598_2019_50876_MOESM1_ESM.xlsx, sheet 1
  • 41598_2019_50876_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: N/A
PubMed Link: 31597922
Variant Present in the following documents:
View BVdb publication page



Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30

Variant appearance in text: N/A
PubMed Link: 31470906
Variant Present in the following documents:
View BVdb publication page



Susceptible loci associated with autoimmune disease as potential biomarkers for checkpoint inhibitor-induced immune-related adverse events.

Esmo Open
Hoefsmit, Esmée P EP; Rozeman, Elisa A EA; Haanen, John B A G JBAG; Blank, Christian U CU
Publication Date: 2019

Variant appearance in text: rs1800858
PubMed Link: 31423333
Variant Present in the following documents:
  • esmoopen-2018-000472supp001.pdf
View BVdb publication page



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: RET: Ala45Ala; rs1800858
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.

Plos One
Shoji, Tetsuaki T; Konno, Satoshi S; Niida, Yo Y; Ogi, Takahiro T; Suzuki, Masaru M; Shimizu, Kaoruko K; Hida, Yasuhiro Y; Kaga, Kichizo K; Seyama, Kuniaki K; Naka, Tomoaki T; Matsuno, Yoshihiro Y; Nishimura, Masaharu M
Publication Date: 2019

Variant appearance in text: N/A
PubMed Link: 30794603
Variant Present in the following documents:
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs1800858
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: N/A
PubMed Link: 30497413
Variant Present in the following documents:
View BVdb publication page



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: rs1800858
PubMed Link: 30409984
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_34815.pdf
View BVdb publication page



The RET C611Y mutation causes MEN 2A and associated cutaneous

Endocrine Connections
Qi, Xiao-Ping XP; Peng, Jian-Zhong JZ; Yang, Xiao-Wei XW; Zao, Zhi-Li ZL; Yu, Xiu-Hua XH; Fang, Xu-Dong XD; Zhang, Da-Hong DH; Zhao, Jian-Qiang JQ
Publication Date: 2018-09-01

Variant appearance in text: N/A
PubMed Link: 30300539
Variant Present in the following documents:
View BVdb publication page



Medullary Thyroid Carcinoma With Exon 2 p.L56M RET Variant: Clinical Particular Features in Two Patients.

Frontiers In Endocrinology
Paragliola, Rosa M RM; Lovicu, Rosa M RM; Papi, Giampaolo G; Capoluongo, Ettore E; Minucci, Angelo A; Canu, Giulia G; Pontecorvi, Alfredo A; Corsello, Salvatore M SM
Publication Date: 2018

Variant appearance in text: N/A
PubMed Link: 30072953
Variant Present in the following documents:
View BVdb publication page



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: RET: A45A; rs1800858
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 4
View BVdb publication page



A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Bmc Medical Genetics
Jia, Shuqin S; Zhang, Meng M; Sun, Yu Y; Yan, Hai H; Zhao, Fangping F; Li, Ziyu Z; Ji, Jiafu J
Publication Date: 2018-06-22

Variant appearance in text: N/A
PubMed Link: 29929473
Variant Present in the following documents:
View BVdb publication page



Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Plos One
Soukupova, Jana J; Zemankova, Petra P; Lhotova, Klara K; Janatova, Marketa M; Borecka, Marianna M; Stolarova, Lenka L; Lhota, Filip F; Foretova, Lenka L; Machackova, Eva E; Stranecky, Viktor V; Tavandzis, Spiros S; Kleiblova, Petra P; Vocka, Michal M; Hartmannova, Hana H; Hodanova, Katerina K; Kmoch, Stanislav S; Kleibl, Zdenek Z
Publication Date: 2018

Variant appearance in text: N/A
PubMed Link: 29649263
Variant Present in the following documents:
View BVdb publication page



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: RET: Ala45=; rs1800858
PubMed Link: 29449315
Variant Present in the following documents:
  • supp_mcs.a002352_Supplemental_Table_3.xls, sheet 1
View BVdb publication page



Expanding primary cells from mucoepidermoid and other salivary gland neoplasms for genetic and chemosensitivity testing.

Disease Models & Mechanisms
Alamri, Ahmad M AM; Liu, Xuefeng X; Blancato, Jan K JK; Haddad, Bassem R BR; Wang, Weisheng W; Zhong, Xiaogang X; Choudhary, Sujata S; Krawczyk, Ewa E; Kallakury, Bhaskar V BV; Davidson, Bruce J BJ; Furth, Priscilla A PA
Publication Date: 2018-01-29

Variant appearance in text: rs1800858
PubMed Link: 29419396
Variant Present in the following documents:
  • Main text
View BVdb publication page



Associations between RET tagSNPs and their haplotypes and susceptibility, clinical severity, and thyroid function in patients with differentiated thyroid cancer.

Plos One
He, Caiyun C; Ma, Jiangjun J; Jiang, Yongle Y; Su, Xuan X; Zhang, Xiao X; Chen, Weichao W; Ye, Zulu Z; Deng, Tiancheng T; Deng, Wenze W; Yang, Ankui A
Publication Date: 2017

Variant appearance in text: rs1800858
PubMed Link: 29131865
Variant Present in the following documents:
  • Main text
  • pone.0187968.pdf
View BVdb publication page



A large Chinese pedigree of multiple endocrine neoplasia type 2A with a novel C634Y/D707E germline mutation in RET exon 11.

Oncology Letters
Lu, Fanqian F; Chen, Xiaohong X; Bai, Yunlong Y; Feng, Yaru Y; Wu, Jian J
Publication Date: 2017-09

Variant appearance in text: N/A
PubMed Link: 28943896
Variant Present in the following documents:
View BVdb publication page



Large-scale replication study identified multiple independent SNPs in RET synergistically associated with Hirschsprung disease in Southern Chinese population.

Aging
Zhang, Yan Y; He, Qiuming Q; Zhang, Ruizhong R; Zhang, Hong H; Zhong, Wei W; Xia, Huimin H
Publication Date: 2017-09-20

Variant appearance in text: rs1800858
PubMed Link: 28930629
Variant Present in the following documents:
  • Main text
  • aging-09-1996.pdf
View BVdb publication page



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: rs1800858
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



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: N/A
PubMed Link: 28569743
Variant Present in the following documents:
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: RET: A45A; rs1800858
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications
Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F
Publication Date: 2016-08-18

Variant appearance in text: RET: Ala45=; rs1800858
PubMed Link: 27534895
Variant Present in the following documents:
  • ncomms12475-s3.xlsx, sheet 1
  • ncomms12475-s2.xlsx, sheet 1
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: N/A
PubMed Link: 26549847
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RET mutation p.S891A in a Chinese family with familial medullary thyroid carcinoma and associated cutaneous amyloidosis binding OSMR variant p.G513D.

Oncotarget
Qi, Xiao-Ping XP; Zhao, Jian-Qiang JQ; Chen, Zhen-Guang ZG; Cao, Jin-Lin JL; Du, Juan J; Liu, Nai-Fang NF; Li, Feng F; Sheng, Mao M; Fu, Er E; Guo, Jian J; Jia, Hong H; Zhang, Yi-Ming YM; Ma, Ju-Ming JM
Publication Date: 2015-10-20

Variant appearance in text: N/A
PubMed Link: 26356818
Variant Present in the following documents:
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RET polymorphisms might be the risk factors for thyroid cancer.

International Journal Of Clinical And Experimental Pathology
Huang, Rui-Xue RX; Yang, Fei F
Publication Date: 2015

Variant appearance in text: rs1800858
PubMed Link: 26191299
Variant Present in the following documents:
  • Main text
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KIT Mutation and Loss of 14q May Be Sufficient for the Development of Clinically Symptomatic Very Low-Risk GIST.

Plos One
Klinke, Olaf Karl OK; Mizani, Tuba T; Baldwin, Gouri G; Bancel, Brigitte B; Devouassoux-Shisheboran, Mojgan M; Scoazec, Jean-Yves JY; Bringuier, Pierre-Paul PP; Feederle, Regina R; Jauch, Anna A; Hinderhofer, Katrin K; Taniere, Philippe P; Delecluse, Henri-Jacques HJ
Publication Date: 2015

Variant appearance in text: N/A
PubMed Link: 26102504
Variant Present in the following documents:
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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: N/A
PubMed Link: 25944692
Variant Present in the following documents:
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