Publications:

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Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: TSHR: 1349G>A; Arg450His

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: TSHR: 1349G>A; Arg450His

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review.

Frontiers In Genetics

Wang, Jun J; Gou, Xingqing X; Wang, Xiyi X; Zhang, Jing J; Zhao, Nan N; Wang, Xiaohong X

Publication Date: 2022

Variant appearance in text: TSHR: 1349G>A; Arg450His; rs189261858

PubMed Link: 36386804

Variant Present in the following documents:

• Table1.xls, sheet 3
• Table1.xls, sheet 2
• Table1.xls, sheet 1
• Table1.xls, sheet 4

View BVdb publication page

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Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.

Disease Markers

Perfilyeva, Anastassiya A; Bespalova, Kira K; Perfilyeva, Yuliya Y; Skvortsova, Liliya L; Musralina, Lyazzat L; Zhunussova, Gulnur G; Khussainova, Elmira E; Iskakova, Ulzhan U; Bekmanov, Bakhytzhan B; Djansugurova, Leyla L

Publication Date: 2022

Variant appearance in text: TSHR: 1349G>A; Arg450His; rs189261858

PubMed Link: 36199823

Variant Present in the following documents:

• DM2022-1509994.pdf

View BVdb publication page

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Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine

Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z

Publication Date: 2022-07

Variant appearance in text: TSHR: 1349G>A; R450H; rs189261858

PubMed Link: 35665681

Variant Present in the following documents:

• mmc26.xlsx, sheet 1

View BVdb publication page

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A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.

Clinical And Translational Medicine

Jian, Min M; Wang, Xiaohong X; Sui, Yuanyuan Y; Fang, Mingyan M; Feng, Chenchen C; Huang, Yingping Y; Liu, Chunhua C; Guo, Ruidong R; Guan, Yuanning Y; Gao, Yuxiao Y; Wang, Zhiwei Z; Li, Shuli S; Cheng, Bochen B; Sun, Lina L; Cui, Fenghua F; Guo, Jia J; Zhan, Ying Y; Zhang, Guohong G; Zheng, Ling L; Su, Fengxia F; Xue, Wei W; Qian, Puyi P; Gao, Shaobo S; Chen, Jiayu J; Guan, Lingyao L; Lu, Haorong H; Kristiansen, Karsten K; Jin, Xin X; Chen, Fang F; Zhao, Yuhuan Y; Hammarström, Lennart L; Jiang, Xiaojing X; Liu, Junnian J; Gao, Ya Y

Publication Date: 2022-06

Variant appearance in text: TSHR: R450H

PubMed Link: 35665479

Variant Present in the following documents:

• Main text
• CTM2-12-e843-s002.xlsx, sheet 7
• CTM2-12-e843-s002.xlsx, sheet 6
• CTM2-12-e843-s002.xlsx, sheet 10

View BVdb publication page

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Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Nature Communications

Cong, Pei-Kuan PK; Bai, Wei-Yang WY; Li, Jin-Chen JC; Yang, Meng-Yuan MY; Khederzadeh, Saber S; Gai, Si-Rui SR; Li, Nan N; Liu, Yu-Heng YH; Yu, Shi-Hui SH; Zhao, Wei-Wei WW; Liu, Jun-Quan JQ; Sun, Yi Y; Zhu, Xiao-Wei XW; Zhao, Pian-Pian PP; Xia, Jiang-Wei JW; Guan, Peng-Lin PL; Qian, Yu Y; Tao, Jian-Guo JG; Xu, Lin L; Tian, Geng G; Wang, Ping-Yu PY; Xie, Shu-Yang SY; Qiu, Mo-Chang MC; Liu, Ke-Qi KQ; Tang, Bei-Sha BS; Zheng, Hou-Feng HF

Publication Date: 2022-05-26

Variant appearance in text: TSHR: 1349G>A; R450H; rs189261858

PubMed Link: 35618720

Variant Present in the following documents:

• 41467_2022_30526_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive functional genomic analyses link APC somatic mutation and mRNA-miRNA networks to the clinical outcome of stage-III colorectal cancer patients.

Biomedical Journal

Chiang, Sum-Fu SF; Huang, Heng-Hsuan HH; Tsai, Wen-Sy WS; Chin-Ming Tan, Bertrand B; Yang, Chia-Yu CY; Huang, Po-Jung PJ; Yi-Feng Chang, Ian I; Lin, Jiarong J; Lu, Pei-Shan PS; Chin, En E; Liu, Yu-Hao YH; Yu, Jau-Song JS; Chiang, Jy-Ming JM; Hung, Hsin-Yuan HY; You, Jeng-Fu JF; Liu, Hsuan H

Publication Date: 2022-04

Variant appearance in text: TSHR: R450H

PubMed Link: 35550340

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Inherited Disorders of Thyroid Hormone Metabolism Defect Caused by the Dysregulation of Selenoprotein Expression.

Frontiers In Endocrinology

Lee, Kyu Won KW; Shin, Yoochan Y; Lee, Sungahn S; Lee, Sihoon S

Publication Date: 2021

Variant appearance in text: TSHR: 1349G>A; R450H

PubMed Link: 35126314

Variant Present in the following documents:

• Main text
• fendo-12-803024.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: TSHR: R450H; rs189261858

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs189261858

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 6

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs189261858

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 6

View BVdb publication page

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Congenital Hypothyroidism Patients With Thyroid Hormone Receptor Variants Are Not Rare: A Systematic Review.

Inquiry : A Journal Of Medical Care Organization, Provision And Financing

Da, Dong-Zhu DZ; Wang, Ye Y; Wang, Min M; Long, Zhi Z; Wang, Qian Q; Liu, Jun J

Publication Date: 2021

Variant appearance in text: TSHR: R450H

PubMed Link: 34919466

Variant Present in the following documents:

• Main text
• 10.1177_00469580211067943.pdf

View BVdb publication page

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Congenital Hypothyroidism Patients With Thyroid Hormone Receptor Variants Are Not Rare: A Systematic Review.

Inquiry : A Journal Of Medical Care Organization, Provision And Financing

Da, Dong-Zhu DZ; Wang, Ye Y; Wang, Min M; Long, Zhi Z; Wang, Qian Q; Liu, Jun J

Publication Date: 2021

Variant appearance in text: TSHR: R450H

PubMed Link: 34919466

Variant Present in the following documents:

• Main text
• 10.1177_00469580211067943.pdf

View BVdb publication page

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Crosstalk Between Abnormal TSHR Signaling Activation and PTEN/PI3K in the Dedifferentiation of Thyroid Cancer Cells.

Frontiers In Oncology

Feng, Fang F; Han, Huiqin H; Wu, Shuqi S; Wang, Hui H

Publication Date: 2021

Variant appearance in text: TSHR: R450H

PubMed Link: 34650915

Variant Present in the following documents:

• fonc-11-718578.pdf

View BVdb publication page

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Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism

Journal Of Clinical Research In Pediatric Endocrinology

Zhang, Chang-Run CR; Shi, Yuan-Ping YP; Zhang, Cao-Xu CX; Sun, Feng F; Zhu, Wen-Jiao WJ; Zhang, Rui-Jia RJ; Fang, Ya Y; Zhang, Qian-Yue QY; Yan, Chen-Yan CY; Ying, Ying-Xia YX; Zhao, Shuang-Xia SX; Song, Huai-Dong HD

Publication Date: 2022-03-03

Variant appearance in text: TSHR: R450H

PubMed Link: 34545167

Variant Present in the following documents:

• JCRPE-14-46.pdf

View BVdb publication page

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Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort.

Frontiers In Endocrinology

Long, Wei W; Guo, Fang F; Yao, Ruen R; Wang, Ying Y; Wang, Huaiyan H; Yu, Bin B; Xue, Peng P

Publication Date: 2021

Variant appearance in text: TSHR: 1349G>A; Arg450His

PubMed Link: 34539567

Variant Present in the following documents:

• Main text
• DataSheet_1.xlsx, sheet 1

View BVdb publication page

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Update on Neonatal Isolated Hyperthyrotropinemia: A Systematic Review.

Frontiers In Endocrinology

Chiesa, Ana E AE; Tellechea, Mariana L ML

Publication Date: 2021

Variant appearance in text: TSHR: R450H

PubMed Link: 34484109

Variant Present in the following documents:

• Main text
• DataSheet_1.pdf
• fendo-12-643307.pdf

View BVdb publication page

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Variant of TSHR is Not a Frequent Cause of Congenital Hypothyroidism in Chinese Han Patients.

International Journal Of General Medicine

Xue, Peng P; Yang, Yuqi Y; Yun, Qi Q; Cui, Yue Y; Yu, Bin B; Long, Wei W

Publication Date: 2021

Variant appearance in text: TSHR: 1349G>A; R450H

PubMed Link: 34377013

Variant Present in the following documents:

• Main text
• ijgm-14-4135.pdf

View BVdb publication page

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Next-Generation Sequencing Enhances the Diagnosis Efficiency in Thyroid Nodules.

Frontiers In Oncology

Tan, Li-Cheng LC; Liu, Wan-Lin WL; Zhu, Xiao-Li XL; Yu, Peng-Cheng PC; Shi, Xiao X; Han, Pei-Zhen PZ; Zhang, Ling L; Lin, Liang-Yu LY; Semenov, Arseny A; Wang, Yu Y; Ji, Qing-Hai QH; Ji, Dong-Mei DM; Wang, Yu-Long YL; Qu, Ning N

Publication Date: 2021

Variant appearance in text: TSHR: Arg450His

PubMed Link: 34322384

Variant Present in the following documents:

• Main text
• fonc-11-677892.pdf

View BVdb publication page

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Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis.

Frontiers In Endocrinology

Oliver-Petit, Isabelle I; Edouard, Thomas T; Jacques, Virginie V; Bournez, Marie M; Cartault, Audrey A; Grunenwald, Solange S; Savagner, Frédérique F

Publication Date: 2021

Variant appearance in text: TSHR: 1349G>A; Arg450His; rs189261858

PubMed Link: 34248839

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.

Genes

Park, Kyung-Sun KS

Publication Date: 2021-06-04

Variant appearance in text: TSHR: 1349G>A; Arg450His

PubMed Link: 34200080

Variant Present in the following documents:

• Main text
• genes-12-00863.pdf

View BVdb publication page

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DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patients.

Endocrine Connections

Sorapipatcharoen, Kinnaree K; Tim-Aroon, Thipwimol T; Mahachoklertwattana, Pat P; Chantratita, Wasun W; Iemwimangsa, Nareenart N; Sensorn, Insee I; Panthan, Bhakbhoom B; Jiaranai, Poramate P; Noojarern, Saisuda S; Khlairit, Patcharin P; Pongratanakul, Sarunyu S; Suprasongsin, Chittiwat C; Korwutthikulrangsri, Manassawee M; Sriphrapradang, Chutintorn C; Poomthavorn, Preamrudee P

Publication Date: 2020-11

Variant appearance in text: TSHR: 1349G>A; Arg450His; rs189261858

PubMed Link: 33310921

Variant Present in the following documents:

• Main text
• EC-20-0411.pdf

View BVdb publication page

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Clinical Application of Targeted Deep Sequencing in Metastatic Colorectal Cancer Patients: Actionable Genomic Alteration in K-MASTER Project.

Cancer Research And Treatment

Lee, Youngwoo Y; Lee, Soohyeon S; Sung, Jae Sook JS; Chung, Hee-Joon HJ; Lim, Ah-Reum AR; Kim, Ju Won JW; Choi, Yoon Ji YJ; Park, Kyong Hwa KH; Kim, Yeul Hong YH

Publication Date: 2021-01

Variant appearance in text: TSHR: R450H

PubMed Link: 32810930

Variant Present in the following documents:

• crt-2020-559-suppl3.pdf

View BVdb publication page

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Clinical impact of a cancer genomic profiling test using an in-house comprehensive targeted sequencing system.

Cancer Science

Hayashi, Hideyuki H; Tanishima, Shigeki S; Fujii, Kyoko K; Mori, Ryo R; Okada, Chihiro C; Yanagita, Emmy E; Shibata, Yuka Y; Matsuoka, Ryosuke R; Amano, Toraji T; Yamada, Takahiro T; Yabe, Ichiro I; Kinoshita, Ichiro I; Komatsu, Yoshito Y; Dosaka-Akita, Hirotoshi H; Nishihara, Hiroshi H

Publication Date: 2020-10

Variant appearance in text: TSHR: 1349G>A; R450H; rs189261858

PubMed Link: 32772458

Variant Present in the following documents:

• CAS-111-3926-s001.xlsx, sheet 12

View BVdb publication page

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Predicting the pathogenicity of NKX2-1 and IGSF1 variants with in silico bioinformatic tools.

Clinical Pediatric Endocrinology : Case Reports And Clinical Investigations : Official Journal Of The Japanese Society For Pediatric Endocrinology

Narumi, Satoshi S

Publication Date: 2020

Variant appearance in text: TSHR: Arg450His

PubMed Link: 32694890

Variant Present in the following documents:

• Main text
• cpe-29-123.pdf

View BVdb publication page

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Epstein-Barr Virus-negative Marginal Zone Lymphoma as an Uncommon Form of Monomorphic Posttransplant Lymphoproliferative Disorder.

The American Journal Of Surgical Pathology

Galera, Pallavi P; Flavin, Richard R; Savage, Natasha M NM; Saksena, Annapurna A; Gong, Shunyou S; Wang, Huan-You HY; Swan, Niall N; Xi, Liqiang L; Raffeld, Mark M; Pittaluga, Stefania S; Jaffe, Elaine S ES

Publication Date: 2020-10

Variant appearance in text: TSHR: 1349G>A; Arg450His

PubMed Link: 32554995

Variant Present in the following documents:

• Main text

View BVdb publication page

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DUOX2 and DUOXA2 Variants Confer Susceptibility to Thyroid Dysgenesis and Gland-in-situ With Congenital Hypothyroidism.

Frontiers In Endocrinology

Wang, Fengqi F; Zang, Yucui Y; Li, Miaomiao M; Liu, Wenmiao W; Wang, Yangang Y; Yu, Xiaolong X; Li, Hua H; Wang, Fang F; Liu, Shiguo S

Publication Date: 2020

Variant appearance in text: TSHR: R450H

PubMed Link: 32425884

Variant Present in the following documents:

• Main text

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: rs189261858

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
• 41422_2020_322_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism.

Molecular Medicine Reports

Wang, Huijuan H; Kong, Xiaohong X; Pei, Yanrui Y; Cui, Xuemei X; Zhu, Yijie Y; He, Zixuan Z; Wang, Yanxia Y; Zhang, Lirong L; Zhuo, Lixia L; Chen, Chao C; Yan, Xiaoli X

Publication Date: 2020-07

Variant appearance in text: TSHR: R450H

PubMed Link: 32319661

Variant Present in the following documents:

• Main text
• Supplementary_Data7.pdf
• Supplementary_Data6.pdf
• mmr-22-01-0297.pdf

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: TSHR: 1349G>A; Arg450His; rs189261858

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

View BVdb publication page

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Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis.

Gut

Li, Jingyun J; Wang, Rui R; Zhou, Xin X; Wang, Wendong W; Gao, Shuai S; Mao, Yunuo Y; Wu, Xinglong X; Guo, Limei L; Liu, Haijing H; Wen, Lu L; Fu, Wei W; Tang, Fuchou F

Publication Date: 2020-07

Variant appearance in text: TSHR: Arg450His

PubMed Link: 31744909

Variant Present in the following documents:

• gutjnl-2019-319438supp006.xlsx, sheet 2
• gutjnl-2019-319438supp006.xlsx, sheet 1

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: TSHR: 1349G>A; Arg450His; rs189261858

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Mutation spectrum of germline cancer susceptibility genes among unselected Chinese colorectal cancer patients.

Cancer Management And Research

Gong, Rui R; He, Yuan Y; Liu, Xiao-Yun XY; Wang, Hai-Yun HY; Sun, Li-Yue LY; Yang, Xin-Hua XH; Li, Bin B; Cao, Xin-Kai XK; Ye, Zu-Lu ZL; Kong, Ling-Heng LH; Zhang, Da-Dong DD; Li, Yu-Hong YH; Xu, Rui-Hua RH; Shao, Jian-Yong JY

Publication Date: 2019

Variant appearance in text: TSHR: 1349G>A; R450H

PubMed Link: 31118792

Variant Present in the following documents:

• Main text
• cmar-11-3721.pdf

View BVdb publication page

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Newborn Screening and Molecular Profile of Congenital Hypothyroidism in a Chinese Population.

Frontiers In Genetics

Yu, Bin B; Long, Wei W; Yang, Yuqi Y; Wang, Ying Y; Jiang, Lihua L; Cai, Zhengmao Z; Wang, Huaiyan H

Publication Date: 2018

Variant appearance in text: TSHR: 1349G>A; R450H; rs189261858

PubMed Link: 30420871

Variant Present in the following documents:

• Main text
• fgene-09-00509.pdf

View BVdb publication page

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Identification of compound heterozygous TSHR mutations (R109Q and R450H) in a patient with nonclassic TSH resistance and functional characterization of the mutant receptors.

Clinical Pediatric Endocrinology : Case Reports And Clinical Investigations : Official Journal Of The Japanese Society For Pediatric Endocrinology

Sugisawa, Chiho C; Abe, Kiyomi K; Sunaga, Yuka Y; Taniyama, Matsuo M; Hasegawa, Tomonobu T; Narumi, Satoshi S

Publication Date: 2018

Variant appearance in text: TSHR: 1349G>A; R450H

PubMed Link: 30083029

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Journal Of The Endocrine Society

Ittisoponpisan, Sirawit S; David, Alessia A

Publication Date: 2018-08-01

Variant appearance in text: TSHR: Arg450His

PubMed Link: 30019023

Variant Present in the following documents:

• Main text
• js.2018-00077.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: TSHR: 1349G>A; R450H; rs189261858

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7

View BVdb publication page

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Concurrent TSHR mutations and DIO2 T92A polymorphism result in abnormal thyroid hormone metabolism.

Scientific Reports

Park, Eunkuk E; Jung, Jaehoon J; Araki, Osamu O; Tsunekawa, Katsuhiko K; Park, So Young SY; Kim, Jeonghyun J; Murakami, Masami M; Jeong, Seon-Yong SY; Lee, Sihoon S

Publication Date: 2018-07-04

Variant appearance in text: TSHR: R450H

PubMed Link: 29973617

Variant Present in the following documents:

• Main text
• 41598_2018_Article_28480.pdf

View BVdb publication page

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The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.

European Journal Of Endocrinology

Sun, Feng F; Zhang, Jun-Xiu JX; Yang, Chang-Yi CY; Gao, Guan-Qi GQ; Zhu, Wen-Bin WB; Han, Bing B; Zhang, Le-Le LL; Wan, Yue-Yue YY; Ye, Xiao-Ping XP; Ma, Yu-Ru YR; Zhang, Man-Man MM; Yang, Liu L; Zhang, Qian-Yue QY; Liu, Wei W; Guo, Cui-Cui CC; Chen, Gang G; Zhao, Shuang-Xia SX; Song, Ke-Yi KY; Song, Huai-Dong HD

Publication Date: 2018-06

Variant appearance in text: TSHR: R450H

PubMed Link: 29650690

Variant Present in the following documents:

• Main text
• eje-178-623.pdf
• eje-178-623-t001.pdf

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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: rs189261858

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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Resistance to thyrotropin.

Best Practice & Research. Clinical Endocrinology & Metabolism

Grasberger, Helmut H; Refetoff, Samuel S

Publication Date: 2017-03

Variant appearance in text: TSHR: R450H

PubMed Link: 28648507

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Structural-Functional Features of the Thyrotropin Receptor: A Class A G-Protein-Coupled Receptor at Work.

Frontiers In Endocrinology

Kleinau, Gunnar G; Worth, Catherine L CL; Kreuchwig, Annika A; Biebermann, Heike H; Marcinkowski, Patrick P; Scheerer, Patrick P; Krause, Gerd G

Publication Date: 2017

Variant appearance in text: TSHR: R450H

PubMed Link: 28484426

Variant Present in the following documents:

• fendo-08-00086.pdf

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A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.

Annals Of Laboratory Medicine

Park, Kyoung Jin KJ; Park, Seungman S; Lee, Eunhee E; Park, Jong Ho JH; Park, June Hee JH; Park, Hyung Doo HD; Lee, Soo Youn SY; Kim, Jong Won JW

Publication Date: 2016-11

Variant appearance in text: TSHR: 1349G>A; R450H

PubMed Link: 27578510

Variant Present in the following documents:

• Main text

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