Publications:

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Metabolic Overlap between Alzheimer's Disease and Metabolic Syndrome Identifies the PVRL2 Gene as a New Modulator of Diabetic Dyslipidemia.

International Journal Of Molecular Sciences

Guardiola, Montse M; Muntané, Gerard G; Martínez, Iris I; Martorell, Lourdes L; Girona, Josefa J; Ibarretxe, Daiana D; Plana, Núria N; Bullido, María J MJ; Vilella, Elisabet E; Ribalta, Josep J

Publication Date: 2023-04-18

Variant appearance in text: rs1049296

PubMed Link: 37108578

Variant Present in the following documents:

• Main text
• ijms-24-07415.pdf

View BVdb publication page

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: TF: P589S

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3

View BVdb publication page

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The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia.

Investigative Ophthalmology & Visual Science

Jiang, Yi Y; Zhou, Lin L; Wang, Yingwei Y; Ouyang, Jiamin J; Li, Shiqiang S; Xiao, Xueshan X; Jia, Xiaoyun X; Wang, Junwen J; Yi, Zhen Z; Sun, Wenmin W; Jiao, Xiaodong X; Wang, Panfeng P; Hejtmancik, J Fielding JF; Zhang, Qingjiong Q

Publication Date: 2023-03-01

Variant appearance in text: TF: 1765C>T

PubMed Link: 36917121

Variant Present in the following documents:

• iovs-64-3-24.pdf

View BVdb publication page

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Genetics and Epigenetics of Manganese Toxicity.

Current Environmental Health Reports

Lindner, Sabrina S; Lucchini, Roberto R; Broberg, Karin K

Publication Date: 2022-12

Variant appearance in text: rs1049296

PubMed Link: 36357556

Variant Present in the following documents:

• Main text
• 40572_2022_Article_384.pdf

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: TF: P589S

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_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_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: TF: P589S

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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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: TF: P589S; rs1049296

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Empirical evidence for biometal dysregulation in Parkinson's disease from a systematic review and Bradford Hill analysis.

Npj Parkinson'S Disease

Abdeen, Amr H AH; Trist, Benjamin G BG; Double, Kay L KL

Publication Date: 2022-06-27

Variant appearance in text: TF: P589S

PubMed Link: 35760970

Variant Present in the following documents:

• 41531_2022_345_MOESM1_ESM.pdf

View BVdb publication page

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Hepcidin (rs10421768), Transferrin (rs3811647, rs1049296) and Transferrin Receptor 2 (rs7385804) Gene Polymorphism Might Be Associated with the Origin of Multiple Sclerosis.

International Journal Of Environmental Research And Public Health

Stachowska, Laura L; Koziarska, Dorota D; Karakiewicz, Beata B; Kotwas, Artur A; Knyszyńska, Anna A; Folwarski, Marcin M; Dec, Karolina K; Stachowska, Ewa E; Hawryłkowicz, Viktoria V; Kulaszyńska, Monika M; Sołek-Pastuszka, Joanna J; Skonieczna-Żydecka, Karolina K

Publication Date: 2022-06-04

Variant appearance in text: rs1049296

PubMed Link: 35682458

Variant Present in the following documents:

• Main text
• ijerph-19-06875.pdf

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: TF: P589S; rs1049296

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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The Role of Gene Variants in the Iron Metabolism of Anemic Adolescent Girls.

Cureus

Varikuti, Sudarshan Reddy SR; Parasannavar, Devaraj J DJ; Rajkumar, Hemalatha H; Bhukya, Tulja T; Satyanarayana, Uppala U; Kumar, Manoj M

Publication Date: 2021-12

Variant appearance in text: rs1049296

PubMed Link: 34877231

Variant Present in the following documents:

• Main text
• cureus-0013-00000020128.pdf

View BVdb publication page

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Contributions of HFE polymorphisms to brain and blood iron load, and their links to cognitive and motor function in healthy adults.

Neuropsychopharmacology Reports

Kalpouzos, Grégoria G; Mangialasche, Francesca F; Falahati, Farshad F; Laukka, Erika J EJ; Papenberg, Goran G

Publication Date: 2021-09

Variant appearance in text: rs1049296

PubMed Link: 34291615

Variant Present in the following documents:

• Main text
• NPR2-41-393.pdf

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: TF: 1765C>T; Pro589Ser; rs1049296

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.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: TF: Pro589Ser; rs1049296

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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HIF1A: A Putative Modifier of Hemochromatosis.

International Journal Of Molecular Sciences

Pelucchi, Sara S; Ravasi, Giulia G; Arosio, Cristina C; Mauri, Mario M; Piazza, Rocco R; Mariani, Raffaella R; Piperno, Alberto A

Publication Date: 2021-01-27

Variant appearance in text: TF: Pro589Ser; rs1049296

PubMed Link: 33513852

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs1049296

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Hemochromatosis Mutations, Brain Iron Imaging, and Dementia in the UK Biobank Cohort.

Journal Of Alzheimer'S Disease : Jad

Atkins, Janice L JL; Pilling, Luke C LC; Heales, Christine J CJ; Savage, Sharon S; Kuo, Chia-Ling CL; Kuchel, George A GA; Steffens, David C DC; Melzer, David D

Publication Date: 2021

Variant appearance in text: rs1049296

PubMed Link: 33427739

Variant Present in the following documents:

• Main text
• jad-79-jad201080.pdf

View BVdb publication page

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Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus.

Haematologica

Andolfo, Immacolata I; Martone, Stefania S; Ribersani, Michela M; Bianchi, Simona S; Manna, Francesco F; Genesio, Rita R; Gambale, Antonella A; Pignataro, Piero P; Testi, Anna Maria AM; Iolascon, Achille A; Russo, Roberta R

Publication Date: 2020-12-01

Variant appearance in text: TF: 1765C>T; Pro589Ser; rs1049296

PubMed Link: 33256393

Variant Present in the following documents:

• Main text
• 1052883.pdf

View BVdb publication page

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In-depth plasma proteomics reveals increase in circulating PD-1 during anti-PD-1 immunotherapy in patients with metastatic cutaneous melanoma.

Journal For Immunotherapy Of Cancer

Babačić, Haris H; Lehtiö, Janne J; Pico de Coaña, Yago Y; Pernemalm, Maria M; Eriksson, Hanna H

Publication Date: 2020-05

Variant appearance in text: TF: 1765C>T; P589S; rs1049296

PubMed Link: 32457125

Variant Present in the following documents:

• jitc-2019-000204supp003.xlsx, sheet 3

View BVdb publication page

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: TF: P589S

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
• 41467_2020_15456_MOESM5_ESM.xlsx, sheet 1
• 41467_2020_15456_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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The Prevalence of Insomnia and the Link between Iron Metabolism Genes Polymorphisms, TF rs1049296 C>T, TF rs3811647 G>A, TFR rs7385804 A>C, HAMP rs10421768 A>G and Sleep Disorders in Polish Individuals with ASD.

International Journal Of Environmental Research And Public Health

Skonieczna-Żydecka, Karolina K; Jamioł-Milc, Dominika D; Borecki, Krzysztof K; Stachowska, Ewa E; Zabielska, Paulina P; Kamińska, Magdalena M; Karakiewicz, Beata B

Publication Date: 2020-01-08

Variant appearance in text: rs1049296

PubMed Link: 31936202

Variant Present in the following documents:

• Main text
• ijerph-17-00400.pdf

View BVdb publication page

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: TF: 1765C>T; Pro589Ser

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 3
• Supplementary_Data2.xlsx, sheet 4
• Supplementary_Data2.xlsx, sheet 2

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: TF: 1765C>T; Pro589Ser; rs1049296

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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DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.

Nature Communications

Jung, Hyunchul H; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Esteller, Manel M; Lee, Se-Hoon SH; Choi, Jung Kyoon JK

Publication Date: 2019-09-19

Variant appearance in text: TF: P589S

PubMed Link: 31537801

Variant Present in the following documents:

• 41467_2019_12159_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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The Interplay of Diet Quality and Alzheimer's Disease Genetic Risk Score in Relation to Cognitive Performance Among Urban African Americans.

Nutrients

Hossain, Sharmin S; Beydoun, May A MA; Kuczmarski, Marie F MF; Tajuddin, Salman S; Evans, Michele K MK; Zonderman, Alan B AB

Publication Date: 2019-09-11

Variant appearance in text: rs1049296

PubMed Link: 31514322

Variant Present in the following documents:

• Main text
• nutrients-11-02181.pdf

View BVdb publication page

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Breast cancer quantitative proteome and proteogenomic landscape.

Nature Communications

Johansson, Henrik J HJ; Socciarelli, Fabio F; Vacanti, Nathaniel M NM; Haugen, Mads H MH; Zhu, Yafeng Y; Siavelis, Ioannis I; Fernandez-Woodbridge, Alejandro A; Aure, Miriam R MR; Sennblad, Bengt B; Vesterlund, Mattias M; Branca, Rui M RM; Orre, Lukas M LM; Huss, Mikael M; Fredlund, Erik E; Beraki, Elsa E; Garred, Øystein Ø; Boekel, Jorrit J; Sauer, Torill T; Zhao, Wei W; Nord, Silje S; Höglander, Elen K EK; Jans, Daniel C DC; Brismar, Hjalmar H; Haukaas, Tonje H TH; Bathen, Tone F TF; Schlichting, Ellen E; Naume, Bjørn B; , ; Luders, Torben T; Borgen, Elin E; Kristensen, Vessela N VN; Russnes, Hege G HG; Lingjærde, Ole Christian OC; Mills, Gordon B GB; Sahlberg, Kristine K KK; Børresen-Dale, Anne-Lise AL; Lehtiö, Janne J

Publication Date: 2019-04-08

Variant appearance in text: TF: 1765C>T; P589S; rs1049296

PubMed Link: 30962452

Variant Present in the following documents:

• 41467_2019_9018_MOESM8_ESM.xlsx, sheet 2

View BVdb publication page

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In-depth human plasma proteome analysis captures tissue proteins and transfer of protein variants across the placenta.

Elife

Pernemalm, Maria M; Sandberg, AnnSofi A; Zhu, Yafeng Y; Boekel, Jorrit J; Tamburro, Davide D; Schwenk, Jochen M JM; Björk, Albin A; Wahren-Herlenius, Marie M; Åmark, Hanna H; Östenson, Claes-Göran CG; Westgren, Magnus M; Lehtiö, Janne J

Publication Date: 2019-04-08

Variant appearance in text: TF: 1765C>T; P589S; rs1049296

PubMed Link: 30958262

Variant Present in the following documents:

• elife-41608-supp9.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: TF: P589S; rs1049296

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Proteomic Analysis of Human Plasma during Intermittent Fasting.

Journal Of Proteome Research

Harney, Dylan J DJ; Hutchison, Amy T AT; Hatchwell, Luke L; Humphrey, Sean J SJ; James, David E DE; Hocking, Samantha S; Heilbronn, Leonie K LK; Larance, Mark M

Publication Date: 2019-05-03

Variant appearance in text: TF: P589S

PubMed Link: 30892045

Variant Present in the following documents:

• Main text
• pr9b00090.pdf

View BVdb publication page

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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: TF: 1765C>T; rs1049296

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women.

Cancer Science

Park, Charny C; Yoon, Kyong-Ah KA; Kim, Jihyun J; Park, In Hae IH; Park, Soo Jin SJ; Kim, Min Kyeong MK; Jang, Wooyeong W; Cho, Soo Young SY; Park, Boyoung B; Kong, Sun-Young SY; Lee, Eun Sook ES

Publication Date: 2019-05

Variant appearance in text: TF: 1765C>T; P589S; rs1049296

PubMed Link: 30811755

Variant Present in the following documents:

• CAS-110-1760-s002.xlsx, sheet 2

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: TF: P589S

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

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Iron levels, genes involved in iron metabolism and antioxidative processes and lung cancer incidence.

Plos One

Sukiennicki, Grzegorz Mariusz GM; Marciniak, Wojciech W; Muszyńska, Magdalena M; Baszuk, Piotr P; Gupta, Satish S; Białkowska, Katarzyna K; Jaworska-Bieniek, Katarzyna K; Durda, Katarzyna K; Lener, Marcin M; Pietrzak, Sandra S; Gromowski, Tomasz T; Prajzendanc, Karolina K; Łukomska, Alicja A; Waloszczyk, Piotr P; Wójcik, Janusz Zenon JZ; Scott, Rodney R; Lubiński, Jan J; Jakubowska, Anna A

Publication Date: 2019

Variant appearance in text: rs1049296

PubMed Link: 30640897

Variant Present in the following documents:

• Main text
• pone.0208610.pdf

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: TF: 1765C>T; Pro589Ser; rs1049296

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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DES-Mutation: System for Exploring Links of Mutations and Diseases.

Scientific Reports

Kordopati, Vasiliki V; Salhi, Adil A; Razali, Rozaimi R; Radovanovic, Aleksandar A; Tifratene, Faroug F; Uludag, Mahmut M; Li, Yu Y; Bokhari, Ameerah A; AlSaieedi, Ahdab A; Bin Raies, Arwa A; Van Neste, Christophe C; Essack, Magbubah M; Bajic, Vladimir B VB

Publication Date: 2018-09-06

Variant appearance in text: TF: P589S; rs1049296

PubMed Link: 30190574

Variant Present in the following documents:

• Main text
• 41598_2018_Article_31439.pdf

View BVdb publication page

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NIPS, a 3D network-integrated predictor of deleterious protein SAPs, and its application in cancer prognosis.

Scientific Reports

Wang, Bo B; Li, Jing J; Cheng, Xi X; Zhou, Qiao Q; Yang, Jingxu J; Zhang, Menghuan M; Chen, Haifeng H; Li, Jing J

Publication Date: 2018-04-16

Variant appearance in text: TF: P589S; rs1049296

PubMed Link: 29662108

Variant Present in the following documents:

• 41598_2018_24286_MOESM1_ESM.pdf

View BVdb publication page

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Gene-gene interactions among coding genes of iron-homeostasis proteins and APOE-alleles in cognitive impairment diseases.

Plos One

Tisato, Veronica V; Zuliani, Giovanni G; Vigliano, Marco M; Longo, Giovanna G; Franchini, Eugenia E; Secchiero, Paola P; Zauli, Giorgio G; Paraboschi, Elvezia Maria EM; Vikram Singh, Ajay A; Serino, Maria Luisa ML; Ortolani, Beatrice B; Zurlo, Amedeo A; Bosi, Cristina C; Greco, Antonio A; Seripa, Davide D; Asselta, Rosanna R; Gemmati, Donato D

Publication Date: 2018

Variant appearance in text: rs1049296

PubMed Link: 29518107

Variant Present in the following documents:

• pone.0193867.pdf

View BVdb publication page

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An integrative functional genomics framework for effective identification of novel regulatory variants in genome-phenome studies.

Genome Medicine

Zhao, Junfei J; Cheng, Feixiong F; Jia, Peilin P; Cox, Nancy N; Denny, Joshua C JC; Zhao, Zhongming Z

Publication Date: 2018-01-29

Variant appearance in text: TF: P589S; rs1049296

PubMed Link: 29378629

Variant Present in the following documents:

• 13073_2018_513_MOESM4_ESM.xlsx, sheet 1
• 13073_2018_513_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Iron-related gene variants and brain iron in multiple sclerosis and healthy individuals.

Neuroimage. Clinical

Hagemeier, Jesper J; Ramanathan, Murali M; Schweser, Ferdinand F; Dwyer, Michael G MG; Lin, Fuchun F; Bergsland, Niels N; Weinstock-Guttman, Bianca B; Zivadinov, Robert R

Publication Date: 2018

Variant appearance in text: rs1049296

PubMed Link: 29201641

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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PECAN: library-free peptide detection for data-independent acquisition tandem mass spectrometry data.

Nature Methods

Ting, Ying S YS; Egertson, Jarrett D JD; Bollinger, James G JG; Searle, Brian C BC; Payne, Samuel H SH; Noble, William Stafford WS; MacCoss, Michael J MJ

Publication Date: 2017-09

Variant appearance in text: rs1049296

PubMed Link: 28783153

Variant Present in the following documents:

• NIHMS893716-supplement-2.pdf

View BVdb publication page

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