Publications:

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Biochemical, Clinical, and Genetic Characteristics of Mexican Patients with Primary Hypertriglyceridemia, Including the First Case of Hyperchylomicronemia Syndrome Due to GPIHBP1 Deficiency.

International Journal Of Molecular Sciences

Rodríguez-Gutiérrez, Perla Graciela PG; Colima-Fausto, Ana Gabriela AG; Zepeda-Olmos, Paola Montserrat PM; Hernández-Flores, Teresita de Jesús TJ; González-García, Juan Ramón JR; Magaña-Torres, María Teresa MT

Publication Date: 2022-12-27

Variant appearance in text: LPL: T388=; rs316

PubMed Link: 36613909

Variant Present in the following documents:

• ijms-24-00465.pdf

View BVdb publication page

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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: rs316

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.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: LPL: T388T

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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Regulation of yeast Snf1 (AMPK) by a polyhistidine containing pH sensing module.

Iscience

Simpson-Lavy, Kobi J KJ; Kupiec, Martin M

Publication Date: 2022-10-21

Variant appearance in text: rs316

PubMed Link: 36147951

Variant Present in the following documents:

• Main text
• main.pdf

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: LPL: T388T

PubMed Link: 36075891

Variant Present in the following documents:

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

View BVdb publication page

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LPL, FNDC5 and PPARγ gene polymorphisms related to body composition parameters and lipid metabolic profile in adolescents from Southern Italy.

Journal Of Translational Medicine

Perrone, Benedetta B; Ruffo, Paola P; Zelasco, Samanta S; Giordano, Cinzia C; Morelli, Catia C; Barone, Ines I; Catalano, Stefania S; Andò, Sebastiano S; Sisci, Diego D; Tripepi, Giovanni G; Mammì, Corrado C; Bonofiglio, Daniela D; Conforti, Francesca Luisa FL

Publication Date: 2022-03-03

Variant appearance in text: LPL: 1164C>A; Thr388=; rs316

PubMed Link: 35241092

Variant Present in the following documents:

• Main text
• 12967_2022_3314_MOESM2_ESM.pdf
• 12967_2022_Article_3314.pdf

View BVdb publication page

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Application of proprotein convertase subtilisin/kexin type 9 inhibitor, evolocumab, in patients with severe hypertriglyceridemia.

Chinese Medical Journal

Peng, Yanren Y; Guo, Danxia D; Jiang, Sijie S; Zheng, Hua H

Publication Date: 2022-03-20

Variant appearance in text: rs316

PubMed Link: 34924503

Variant Present in the following documents:

• Main text
• cm9-135-730.pdf

View BVdb publication page

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Japanese clinical practice guidelines for vascular anomalies 2017.

Pediatrics International : Official Journal Of The Japan Pediatric Society

Mimura, Hidefumi H; Akita, Sadanori S; Fujino, Akihiro A; Jinnin, Masatoshi M; Ozaki, Mine M; Osuga, Keigo K; Nakaoka, Hiroki H; Morii, Eiichi E; Kuramochi, Akira A; Aoki, Yoko Y; Arai, Yasunori Y; Aramaki, Noriko N; Inoue, Masanori M; Iwashina, Yuki Y; Iwanaka, Tadashi T; Ueno, Shigeru S; Umezawa, Akihiro A; Ozeki, Michio M; Ochi, Junko J; Kinoshita, Yoshiaki Y; Kurita, Masakazu M; Seike, Shien S; Takakura, Nobuyuki N; Takahashi, Masataka M; Tachibana, Takao T; Chuman, Kumiko K; Nagata, Shuji S; Narushima, Mitsunaga M; Niimi, Yasunari Y; Nosaka, Shunsuke S; Nozaki, Taiki T; Hashimoto, Kazuki K; Hayashi, Ayato A; Hirakawa, Satoshi S; Fujikawa, Atsuko A; Hori, Yumiko Y; Matsuoka, Kentaro K; Mori, Hideki H; Yamamoto, Yuki Y; Yuzuriha, Shunsuke S; Rikihisa, Naoaki N; Watanabe, Shoji S; Watanabe, Shinichi S; Kuroda, Tatsuo T; Sugawara, Shunsuke S; Ishikawa, Kosuke K; Sasaki, Satoru S

Publication Date: 2020-03

Variant appearance in text: rs316

PubMed Link: 32202048

Variant Present in the following documents:

• PED-62-260.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: LPL: Thr388=; rs316

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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The role of magnetic resonance imaging in the evaluation of scaphoid fractures.

Journal Of Medical Radiation Sciences

Wong, Steven B S SBS; Peh, Wilfred C G WCG

Publication Date: 2019-03

Variant appearance in text: rs316

PubMed Link: 30834687

Variant Present in the following documents:

• Main text

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: LPL: T388T; rs316

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 3

View BVdb publication page

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A novel LPL intronic variant: g.18704C>A identified by re-sequencing Kuwaiti Arab samples is associated with high-density lipoprotein, very low-density lipoprotein and triglyceride lipid levels.

Plos One

Al-Bustan, Suzanne A SA; Al-Serri, Ahmad A; Annice, Babitha G BG; Alnaqeeb, Majed A MA; Al-Kandari, Wafa Y WY; Dashti, Mohammed M

Publication Date: 2018

Variant appearance in text: rs316

PubMed Link: 29438437

Variant Present in the following documents:

• Main text
• pone.0192617.pdf
• pone.0192617.s002.pdf

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: LPL: T388T; rs316

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4

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: LPL: T388T; rs316

PubMed Link: 28953935

Variant Present in the following documents:

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

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: LPL: T388T; rs316

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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Bicodon bias can determine the role of synonymous SNPs in human diseases.

Bmc Genomics

McCarthy, Christina C; Carrea, Alejandra A; Diambra, Luis L

Publication Date: 2017-03-13

Variant appearance in text: rs316

PubMed Link: 28288557

Variant Present in the following documents:

• Main text
• 12864_2017_3609_MOESM2_ESM.pdf
• 12864_2017_Article_3609.pdf

View BVdb publication page

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Cross-Talk between Carbon Metabolism and the DNA Damage Response in S. cerevisiae.

Cell Reports

Simpson-Lavy, Kobi J KJ; Bronstein, Alex A; Kupiec, Martin M; Johnston, Mark M

Publication Date: 2015-09-22

Variant appearance in text: rs316

PubMed Link: 26344768

Variant Present in the following documents:

• Main text

View BVdb publication page

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Resequencing of LPL in African Blacks and associations with lipoprotein-lipid levels.

European Journal Of Human Genetics : Ejhg

Pirim, Dilek D; Wang, Xingbin X; Radwan, Zaheda H ZH; Niemsiri, Vipavee V; Bunker, Clareann H CH; Barmada, M Michael MM; Kamboh, M Ilyas MI; Demirci, F Yesim FY

Publication Date: 2015-09

Variant appearance in text: rs316

PubMed Link: 25626708

Variant Present in the following documents:

• Main text
• ejhg2014268a.pdf

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: LPL: T388T; rs316

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Systematic review and meta-analysis of candidate gene association studies of lower urinary tract symptoms in men.

European Urology

Cartwright, Rufus R; Mangera, Altaf A; Tikkinen, Kari A O KA; Rajan, Prabhakar P; Pesonen, Jori J; Kirby, Anna C AC; Thiagamoorthy, Ganesh G; Ambrose, Chris C; Gonzalez-Maffe, Juan J; Bennett, Phillip R PR; Palmer, Tom T; Walley, Andrew A; Järvelin, Marjo-Riitta MR; Khullar, Vik V; Chapple, Chris C

Publication Date: 2014-10

Variant appearance in text: rs316

PubMed Link: 24491308

Variant Present in the following documents:

• Main text

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: LPL: T388T; rs316

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1

View BVdb publication page

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Lipoprotein lipase gene sequencing and plasma lipid profile.

Journal Of Lipid Research

Pirim, Dilek D; Wang, Xingbin X; Radwan, Zaheda H ZH; Niemsiri, Vipavee V; Hokanson, John E JE; Hamman, Richard F RF; Barmada, M Michael MM; Demirci, F Yesim FY; Kamboh, M Ilyas MI

Publication Date: 2014-01

Variant appearance in text: rs316

PubMed Link: 24212298

Variant Present in the following documents:

• Main text

View BVdb publication page

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An integrated genetic linkage map for white clover (Trifolium repens L.) with alignment to Medicago.

Bmc Genomics

Griffiths, Andrew G AG; Barrett, Brent A BA; Simon, Deborah D; Khan, Anar K AK; Bickerstaff, Paul P; Anderson, Craig B CB; Franzmayr, Benjamin K BK; Hancock, Kerry R KR; Jones, Chris S CS

Publication Date: 2013-06-10

Variant appearance in text: rs316

PubMed Link: 23758831

Variant Present in the following documents:

• 1471-2164-14-388.pdf

View BVdb publication page

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Common Variants in 6 Lipid-Related Genes Discovered by High-Resolution DNA Melting Analysis and Their Association with Plasma Lipids.

Journal Of Clinical & Experimental Cardiology

Carlquist, John F JF; McKinney, Jason T JT; Horne, Benjamin D BD; Camp, Nicola J NJ; Cannon-Albright, Lisa L; Muhlestein, Joseph B JB; Hopkins, Paul P; Clarke, Jessica L JL; Mower, Chrissa P CP; Park, James J JJ; Nicholas, Zachary P ZP; Huntinghouse, John A JA; Anderson, Jeffrey L JL

Publication Date: 2011-07-10

Variant appearance in text: rs316

PubMed Link: 22229114

Variant Present in the following documents:

• Main text

View BVdb publication page

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Engineered biological entities for drug delivery and gene therapy protein nanoparticles.

Progress In Molecular Biology And Translational Science

Domingo-Espín, Joan J; Unzueta, Ugutz U; Saccardo, Paolo P; Rodríguez-Carmona, Escarlata E; Corchero, José Luís JL; Vázquez, Esther E; Ferrer-Miralles, Neus N

Publication Date: 2011

Variant appearance in text: rs316

PubMed Link: 22093221

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Type 1 hyperlipoproteinemia and recurrent acute pancreatitis due to lipoprotein lipase antibody in a young girl with Sjogren's syndrome.

The Journal Of Clinical Endocrinology And Metabolism

Ashraf, Ambika P AP; Beukelman, Timothy T; Pruneta-Deloche, Valerie V; Kelly, David R DR; Garg, Abhimanyu A

Publication Date: 2011-11

Variant appearance in text: LPL: Thr388Thr; rs316

PubMed Link: 21880794

Variant Present in the following documents:

• Main text

View BVdb publication page

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Application of statistical and functional methodologies for the investigation of genetic determinants of coronary heart disease biomarkers: lipoprotein lipase genotype and plasma triglycerides as an exemplar.

Human Molecular Genetics

Smith, Andrew J P AJ; Palmen, Jutta J; Putt, Wendy W; Talmud, Philippa J PJ; Humphries, Steve E SE; Drenos, Fotios F

Publication Date: 2010-10-15

Variant appearance in text: rs316

PubMed Link: 20650961

Variant Present in the following documents:

• Main text
• ddq308.pdf
• supp_ddq308_ddq308supp.pdf

View BVdb publication page

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Systematic reduction of cohesin differentially affects chromosome segregation, condensation, and DNA repair.

Current Biology : Cb

Heidinger-Pauli, Jill M JM; Mert, Ozlem O; Davenport, Carol C; Guacci, Vincent V; Koshland, Douglas D

Publication Date: 2010-05-25

Variant appearance in text: rs316

PubMed Link: 20451387

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.

Human Molecular Genetics

Drenos, Fotios F; Talmud, Philippa J PJ; Casas, Juan P JP; Smeeth, Liam L; Palmen, Jutta J; Humphries, Steve E SE; Hingorani, Aroon D AD

Publication Date: 2009-06-15

Variant appearance in text: rs316

PubMed Link: 19336475

Variant Present in the following documents:

• ddp159_1.pdf

View BVdb publication page

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Association of lipoprotein lipase (LPL) single nucleotide polymorphisms with type 2 diabetes mellitus.

Experimental & Molecular Medicine

Cho, Yoon Shin YS; Go, Min Jin MJ; Han, Hye Ree HR; Cha, Seung Hun SH; Kim, Hung Tae HT; Min, Haesook H; Shin, Hyoung Doo HD; Park, Chan C; Han, Bok Ghee BG; Cho, Nam Han NH; Shin, Chol C; Kimm, Kuchan K; Oh, Bermseok B

Publication Date: 2008-10-31

Variant appearance in text: rs316

PubMed Link: 18985010

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide mapping of DNA synthesis in Saccharomyces cerevisiae reveals that mechanisms preventing reinitiation of DNA replication are not redundant.

Molecular Biology Of The Cell

Green, Brian M BM; Morreale, Richard J RJ; Ozaydin, Bilge B; Derisi, Joseph L JL; Li, Joachim J JJ

Publication Date: 2006-05

Variant appearance in text: rs316

PubMed Link: 16481397

Variant Present in the following documents:

• Main text

View BVdb publication page

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Linkage disequilibrium grouping of single nucleotide polymorphisms (SNPs) reflecting haplotype phylogeny for efficient selection of tag SNPs.

Genetics

Takeuchi, Fumihiko F; Yanai, Kazuyuki K; Morii, Toshiyuki T; Ishinaga, Yuji Y; Taniguchi-Yanai, Keiko K; Nagano, Shinobu S; Kato, Norihiro N

Publication Date: 2005-05

Variant appearance in text: rs316

PubMed Link: 15716494

Variant Present in the following documents:

• Main text

View BVdb publication page

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