Publications:

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NGS Sequencing Reveals New UCP1 Gene Variants Potentially Associated with MetS and/or T2DM Risk in the Polish Population-A Preliminary Study.

Genes

Andrzejczak, Anna A; Witkowicz, Agata A; Kujawa, Dorota D; Skrypnik, Damian D; Szulińska, Monika M; Bogdański, Paweł P; Łaczmański, Łukasz Ł; Karabon, Lidia L

Publication Date: 2023-03-24

Variant appearance in text: UCP1: Met229Leu; rs2270565

PubMed Link: 37107547

Variant Present in the following documents:

• Main text
• genes-14-00789.pdf

View BVdb publication page

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Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research

Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z

Publication Date: 2023-01-06

Variant appearance in text: UCP1: M229L; rs2270565

PubMed Link: 36607615

Variant Present in the following documents:

• can-22-2224_table_s8_suppst8.xlsx, sheet 5
• can-22-2224_table_s8_suppst8.xlsx, sheet 8
• can-22-2224_table_s8_suppst8.xlsx, sheet 14
• can-22-2224_table_s8_suppst8.xlsx, sheet 6

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: UCP1: M229L

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2

View BVdb publication page

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Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

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

Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A

Publication Date: 2022-08-15

Variant appearance in text: UCP1: M229L; rs2270565

PubMed Link: 35653148

Variant Present in the following documents:

• ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5

View BVdb publication page

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Integrated molecular profiling of patient-derived ovarian cancer models identifies clinically relevant signatures and tumor vulnerabilities.

International Journal Of Cancer

Lupia, Michela M; Melocchi, Valentina V; Bizzaro, Francesca F; Lo Riso, Pietro P; Dama, Elisa E; Baronio, Micol M; Ranghiero, Alberto A; Barberis, Massimo M; Bernard, Loris L; Bertalot, Giovanni G; Giavazzi, Raffaella R; Testa, Giuseppe G; Bianchi, Fabrizio F; Cavallaro, Ugo U

Publication Date: 2022-07-15

Variant appearance in text: UCP1: Met229Leu; rs2270565

PubMed Link: 35218560

Variant Present in the following documents:

• IJC-151-240-s001.xlsx, sheet 7

View BVdb publication page

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Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: UCP1: M229L

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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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: UCP1: 685A>T; M229L; rs2270565

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: UCP1: Met229Leu; rs2270565

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Association of uncoupling protein (Ucp) gene polymorphisms with cardiometabolic diseases.

Molecular Medicine (Cambridge, Mass.)

Pravednikova, Anna E AE; Shevchenko, Sergey Y SY; Kerchev, Victor V VV; Skhirtladze, Manana R MR; Larina, Svetlana N SN; Kachaev, Zaur M ZM; Egorov, Alexander D AD; Shidlovskii, Yulii V YV

Publication Date: 2020-05-25

Variant appearance in text: UCP: Met229Leu; rs2270565

PubMed Link: 32450815

Variant Present in the following documents:

• Main text
• 10020_2020_Article_180.pdf

View BVdb publication page

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Analysis of association between common variants of uncoupling proteins genes and diabetic retinopathy in a Chinese population.

Bmc Medical Genetics

Jin, Peiyao P; Li, Zhiqiang Z; Xu, Xian X; He, Jiangnan J; Chen, Jianhua J; Xu, Xun X; Du, Xuan X; Bai, Xuelin X; Zhang, Bo B; He, Xiangui X; Lu, Lina L; Zhu, Jianfeng J; Shi, Yongyong Y; Zou, Haidong H

Publication Date: 2020-02-06

Variant appearance in text: UCP1: Met229Leu

PubMed Link: 32028915

Variant Present in the following documents:

• Main text
• 12881_2020_Article_956.pdf

View BVdb publication page

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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: UCP1: M229L; rs2270565

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1

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: UCP1: M229L; rs2270565

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10

View BVdb publication page

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Association of Uncoupling Protein 1 (UCP1) gene polymorphism with obesity: a case-control study.

Bmc Medical Genetics

Chathoth, Shahanas S; Ismail, Mona H MH; Vatte, Chittibabu C; Cyrus, Cyril C; Al Ali, Zhara Z; Ahmed, Khandaker Ahtesham KA; Acharya, Sadananda S; Al Barqi, Aisha Mohammed AM; Al Ali, Amein A

Publication Date: 2018-11-20

Variant appearance in text: UCP1: Met229Leu; rs2270565

PubMed Link: 30458724

Variant Present in the following documents:

• Main text
• 12881_2018_Article_715.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: UCP1: 685A>T; M229L; rs2270565

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 5

View BVdb publication page

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Sequence and Haplotypes Variation of the Ovine Uncoupling Protein-1 Gene (UCP1) and Their Association with Growth and Carcass Traits in New Zealand Romney Lambs.

Genes

An, Qingming Q; Zhou, Huitong H; Hu, Jiang J; Luo, Yuzhu Y; Hickford, Jon G H JGH

Publication Date: 2018-03-30

Variant appearance in text: UCP1: Met229Leu

PubMed Link: 29601527

Variant Present in the following documents:

• Main text
• genes-09-00189.pdf

View BVdb publication page

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Association of MTTP gene variants with pediatric NAFLD: A candidate-gene-based analysis of single nucleotide variations in obese children.

Plos One

Dai, Dongling D; Wen, Feiqiu F; Zhou, Shaoming S; Su, Zhe Z; Liu, Guosheng G; Wang, Mingbang M; Zhou, Jianli J; He, Fusheng F

Publication Date: 2017

Variant appearance in text: UCP1: 685A>T; M229L; rs2270565

PubMed Link: 28953935

Variant Present in the following documents:

• pone.0185396.s001.xls, sheet 6
• pone.0185396.s001.xls, sheet 7
• pone.0185396.s001.xls, sheet 3
• pone.0185396.s001.xls, sheet 2
• pone.0185396.s001.xls, sheet 5
• pone.0185396.s001.xls, sheet 4
• pone.0185396.s001.xls, sheet 1

View BVdb publication page

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Haplotype-based interaction of the PPARGC1A and UCP1 genes is associated with impaired fasting glucose or type 2 diabetes mellitus.

Medicine

Pei, Xiaoting X; Liu, Li L; Cai, Jialin J; Wei, Wenkai W; Shen, Yan Y; Wang, Yaxuan Y; Chen, Yanzi Y; Sun, Panpan P; Imam, Mustapha Umar MU; Ping, Zhiguang Z; Fu, Xiaoli X

Publication Date: 2017-06

Variant appearance in text: rs2270565

PubMed Link: 28591028

Variant Present in the following documents:

• Main text
• medi-96-e6941.pdf

View BVdb publication page

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Role of UCP1 Gene Variants in Interethnic Differences in the Development of Cardio-Metabolic Diseases.

Frontiers In Genetics

Flouris, Andreas D AD; Shidlovskii, Yulii V YV; Shaposhnikov, Alexander V AV; Yepiskoposyan, Levon L; Nadolnik, Liliya L; Karabon, Lidia L; Kowalska, Anna A; Carrillo, Andres E AE; Metsios, George S GS; Sakellariou, Paraskevi P

Publication Date: 2017

Variant appearance in text: UCP1: Met229Leu; rs2270565

PubMed Link: 28194159

Variant Present in the following documents:

• Main text
• fgene-08-00007.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: rs2270565

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: UCP1: M229L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: UCP1: M229L; rs2270565

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, 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: UCP1: M229L; rs2270565

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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The contribution of FTO and UCP-1 SNPs to extreme obesity, diabetes and cardiovascular risk in Brazilian individuals.

Bmc Medical Genetics

Ramos, Adauto V AV; Bastos-Rodrigues, Luciana L; Resende, Bruna A BA; Friedman, Eitan E; Campanha-Versiani, Luciana L; Miranda, Debora M DM; Sarquis, Marta M; De Marco, Luiz L

Publication Date: 2012-11-07

Variant appearance in text: rs2270565

PubMed Link: 23134754

Variant Present in the following documents:

• Main text
• 1471-2350-13-101.pdf

View BVdb publication page

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Sequence Analysis of the UCP1 Gene in a Severe Obese Population from Southern Italy.

Journal Of Obesity

Labruna, Giuseppe G; Pasanisi, Fabrizio F; Fortunato, Giuliana G; Nardelli, Carmela C; Finelli, Carmine C; Farinaro, Eduardo E; Contaldo, Franco F; Sacchetti, Lucia L

Publication Date: 2011

Variant appearance in text: UCP1: M229L; rs2270565

PubMed Link: 21773003

Variant Present in the following documents:

• Main text
• JOBES2011-269043.pdf

View BVdb publication page

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The uncoupling protein 1 gene, UCP1, is expressed in mammalian islet cells and associated with acute insulin response to glucose in African American families from the IRAS Family Study.

Bmc Endocrine Disorders

Sale, Michèle M MM; Hsu, Fang-Chi FC; Palmer, Nicholette D ND; Gordon, Candace J CJ; Keene, Keith L KL; Borgerink, Hermina M HM; Sharma, Arun J AJ; Bergman, Richard N RN; Taylor, Kent D KD; Saad, Mohammed F MF; Norris, Jill M JM

Publication Date: 2007-03-30

Variant appearance in text: UCP1: M229L

PubMed Link: 17397545

Variant Present in the following documents:

• Main text
• 1472-6823-7-1.pdf

View BVdb publication page

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