Publications:

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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: UCP3: Y210Y

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_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: UCP3: Y210Y; rs2075577

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Three Different Genetic Risk Scores Based on Fatty Liver Index, Magnetic Resonance Imaging and Lipidomic for a Nutrigenetic Personalized Management of NAFLD: The Fatty Liver in Obesity Study.

Diagnostics (Basel, Switzerland)

Perez-Diaz-Del-Campo, Nuria N; Riezu-Boj, Jose I JI; Marin-Alejandre, Bertha Araceli BA; Monreal, J Ignacio JI; Elorz, Mariana M; Herrero, José Ignacio JI; Benito-Boillos, Alberto A; Milagro, Fermín I FI; Tur, Josep A JA; Abete, Itziar I; Zulet, M Angeles MA; Martinez, J Alfredo JA

Publication Date: 2021-06-13

Variant appearance in text: rs2075577

PubMed Link: 34199237

Variant Present in the following documents:

• Main text
• diagnostics-11-01083.pdf

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: UCP3: 630C>T; Y210Y; rs2075577

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: UCP3: Y210Y; rs2075577

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: UCP3: 630C>T; Y210Y; rs2075577

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 7
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 8

View BVdb publication page

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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: UCP3: Y210Y; rs2075577

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, 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: UCP3: Tyr210Tyr

PubMed Link: 32450815

Variant Present in the following documents:

• Main text
• 10020_2020_Article_180.pdf

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: rs2075577

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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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: UCP3: Y210Y; rs2075577

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs2075577

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

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: UCP3: 630C>T; rs2075577

PubMed Link: 30319441

Variant Present in the following documents:

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

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: UCP3: 630C>T; Y210Y; rs2075577

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 5
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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UCP2 and UCP3 variants and gene-environment interaction associated with prediabetes and T2DM in a rural population: a case control study in China.

Bmc Medical Genetics

Su, Meifang M; Chen, Xiaoying X; Chen, Yue Y; Wang, Congyun C; Li, Songtao S; Ying, Xuhua X; Xiao, Tian T; Wang, Na N; Jiang, Qingwu Q; Fu, Chaowei C

Publication Date: 2018-03-12

Variant appearance in text: rs2075577

PubMed Link: 29529994

Variant Present in the following documents:

• Main text
• 12881_2018_Article_554.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: UCP3: 630C>T; Y210Y; rs2075577

PubMed Link: 28953935

Variant Present in the following documents:

• pone.0185396.s001.xls, sheet 1
• pone.0185396.s001.xls, sheet 3
• pone.0185396.s001.xls, sheet 2

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: rs2075577

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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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: UCP3: Y210Y; rs2075577

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Genetics and genomic medicine in Indonesia.

Molecular Genetics & Genomic Medicine

Ariani, Yulia Y; Soeharso, Purnomo P; Sjarif, Damayanti R DR

Publication Date: 2017-03

Variant appearance in text: UCP3: Y210Y

PubMed Link: 28361095

Variant Present in the following documents:

• Main text
• MGG3-5-103.pdf

View BVdb publication page

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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: UCP3: Y210Y; rs2075577

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

View BVdb publication page

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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: UCP3: Y210Y; rs2075577

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Association of UCP-3 rs1626521 with obesity and stomach functions in humans.

Obesity (Silver Spring, Md.)

Acosta, Andres A; Camilleri, Michael M; Shin, Andrea A; Vazquez-Roque, Maria I MI; Iturrino, Johanna J; Lanza, Ian R IR; Nair, K Sreekumaran KS; Burton, Duane D; O'Neill, Jessica J; Eckert, Deborah D; Carlson, Paula P; Vella, Adrian A; Zinsmeister, Alan R AR

Publication Date: 2015-04

Variant appearance in text: rs2075577

PubMed Link: 25755013

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: UCP3: Y210Y

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_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: UCP3: Y210Y; rs2075577

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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: UCP3: Y210Y; rs2075577

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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UCP2 I/D modulated change in BMI during a lifestyle modification intervention study in Japanese subjects.

Genetic Testing And Molecular Biomarkers

Mutombo, P B PB; Yamasaki, Masayuki M; Shiwaku, Kuninori K

Publication Date: 2013-01

Variant appearance in text: rs2075577

PubMed Link: 23101559

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variation in the uncoupling protein 2 and 3 genes and human performance.

Journal Of Applied Physiology (Bethesda, Md. : 1985)

Dhamrait, Sukhbir S SS; Williams, Alun G AG; Day, Stephen H SH; Skipworth, James J; Payne, John R JR; World, Michael M; Humphries, Steve E SE; Montgomery, Hugh E HE

Publication Date: 2012-04

Variant appearance in text: UCP3: Y210Y

PubMed Link: 22241057

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Variance in Uncoupling Protein 2 in Relation to Obesity, Type 2 Diabetes, and Related Metabolic Traits: Focus on the Functional -866G>A Promoter Variant (rs659366).

Journal Of Obesity

Dalgaard, Louise T LT

Publication Date: 2011

Variant appearance in text: UCP3: Tyr210Tyr; rs2075577

PubMed Link: 21603268

Variant Present in the following documents:

• Main text
• JOBES2011-340241.pdf

View BVdb publication page

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Population genetic analysis of the uncoupling proteins supports a role for UCP3 in human cold resistance.

Molecular Biology And Evolution

Hancock, Angela M AM; Clark, Vanessa J VJ; Qian, Yudong Y; Di Rienzo, Anna A

Publication Date: 2011-01

Variant appearance in text: UCP3: Tyr210Tyr

PubMed Link: 20802238

Variant Present in the following documents:

• Main text
• msq228.pdf

View BVdb publication page

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A preliminary candidate genotype-intermediate phenotype study of satiation and gastric motor function in obesity.

Obesity (Silver Spring, Md.)

Papathanasopoulos, Athanasios A; Camilleri, Michael M; Carlson, Paula J PJ; Vella, Adrian A; Nord, Sara J Linker SJ; Burton, Duane D DD; Odunsi, Suwebatu T ST; Zinsmeister, Alan R AR

Publication Date: 2010-06

Variant appearance in text: UCP3: Tyr210Tyr; rs2075577

PubMed Link: 19876010

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in healthy oldest-old.

Plos One

Halaschek-Wiener, Julius J; Amirabbasi-Beik, Mahsa M; Monfared, Nasim N; Pieczyk, Markus M; Sailer, Christian C; Kollar, Anita A; Thomas, Ruth R; Agalaridis, Georgios G; Yamada, So S; Oliveira, Lisa L; Collins, Jennifer A JA; Meneilly, Graydon G; Marra, Marco A MA; Madden, Kenneth M KM; Le, Nhu D ND; Connors, Joseph M JM; Brooks-Wilson, Angela R AR

Publication Date: 2009-08-14

Variant appearance in text: rs2075577

PubMed Link: 19680556

Variant Present in the following documents:

• pone.0006641.s001.xls, sheet 1

View BVdb publication page

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Implications of gene-behavior interactions: prevention and intervention for obesity.

Obesity (Silver Spring, Md.)

Bray, Molly S MS

Publication Date: 2008-12

Variant appearance in text: UCP3: Tyr210Tyr

PubMed Link: 19037218

Variant Present in the following documents:

• Main text

View BVdb publication page

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Medical sequencing at the extremes of human body mass.

American Journal Of Human Genetics

Ahituv, Nadav N; Kavaslar, Nihan N; Schackwitz, Wendy W; Ustaszewska, Anna A; Martin, Joel J; Hebert, Sybil S; Doelle, Heather H; Ersoy, Baran B; Kryukov, Gregory G; Schmidt, Steffen S; Yosef, Nir N; Ruppin, Eytan E; Sharan, Roded R; Vaisse, Christian C; Sunyaev, Shamil S; Dent, Robert R; Cohen, Jonathan J; McPherson, Ruth R; Pennacchio, Len A LA

Publication Date: 2007-04

Variant appearance in text: UCP3: Y210Y; rs2075577

PubMed Link: 17357083

Variant Present in the following documents:

• Main text

View BVdb publication page

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