Publications:

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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: rs2774276

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: rs2774276

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_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: rs2774276

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

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Effects of USF1 SNPs and SNP-Environment Interactions on Serum Lipid Profiles and the Risk of Early-Onset Coronary Artery Disease in the Chinese Population.

Frontiers In Cardiovascular Medicine

Zheng, Peng-Fei PF; Chen, Lu-Zhu LZ; Pan, Hong-Wei HW; Liu, Peng P; Zheng, Zhao-Fen ZF

Publication Date: 2022

Variant appearance in text: rs2774276

PubMed Link: 35783856

Variant Present in the following documents:

• Main text
• fcvm-09-882728.pdf

View BVdb publication page

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Homophilic Interaction Between Transmembrane-JAM-A and Soluble JAM-A Regulates Thrombo-Inflammation: Implications for Coronary Artery Disease.

Jacc. Basic To Translational Science

Rath, Dominik D; Rapp, Vera V; Schwartz, Jessica J; Winter, Stefan S; Emschermann, Frederic F; Arnold, Daniel D; Rheinlaender, Johannes J; Büttcher, Manuela M; Strebl, Michael M; Braun, Michael B MB; Altgelt, Konstanze K; Uribe, Álvaro Petersen ÁP; Schories, Christoph C; Canjuga, Denis D; Schaeffeler, Elke E; Borst, Oliver O; Schäffer, Tilman E TE; Langer, Harald H; Stehle, Thilo T; Schwab, Matthias M; Geisler, Tobias T; Gawaz, Meinrad M; Chatterjee, Madhumita M

Publication Date: 2022-05

Variant appearance in text: rs2774276

PubMed Link: 35663628

Variant Present in the following documents:

• Main text
• main.pdf
• mmc3.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: USF1: 277-80C>G; rs2774276

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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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: rs2774276

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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: rs2774276

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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Association of single nucleotide polymorphisms in the USF1, GTF2A1L and OR2W3 genes with non-obstructive azoospermia in the Chinese population.

Journal Of Assisted Reproduction And Genetics

Zhang, Yan Y; He, Xiao-Jin XJ; Song, Bing B; Ye, Lei L; Xie, Xu-Shi XS; Ruan, Jian J; Zhou, Fu-Sheng FS; Zuo, Xian-Bo XB; Cao, Yun-Xia YX; Du, Wei-Dong WD

Publication Date: 2015-01

Variant appearance in text: rs2774276

PubMed Link: 25374392

Variant Present in the following documents:

• Main text

View BVdb publication page

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Upstream Transcription Factor 1 (USF1) allelic variants regulate lipoprotein metabolism in women and USF1 expression in atherosclerotic plaque.

Scientific Reports

Fan, Yue-Mei YM; Hernesniemi, Jussi J; Oksala, Niku N; Levula, Mari M; Raitoharju, Emma E; Collings, Auni A; Hutri-Kähönen, Nina N; Juonala, Markus M; Marniemi, Jukka J; Lyytikäinen, Leo-Pekka LP; Seppälä, Ilkka I; Mennander, Ari A; Tarkka, Matti M; Kangas, Antti J AJ; Soininen, Pasi P; Salenius, Juha Pekka JP; Klopp, Norman N; Illig, Thomas T; Laitinen, Tomi T; Ala-Korpela, Mika M; Laaksonen, Reijo R; Viikari, Jorma J; Kähönen, Mika M; Raitakari, Olli T OT; Lehtimäki, Terho T

Publication Date: 2014-04-11

Variant appearance in text: rs2774276

PubMed Link: 24722012

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Common Polymorphism of Upstream Transcription Factor 1 Gene is associated with Lipid Profile: A Study in Chinese Type 2 Diabetes Families.

International Journal Of Biomedical Science : Ijbs

Song, Yan Y; Li, Na N; He, Liu L; Xun, Tang T; Chen, Dafang D; Hu, Yonghua Y

Publication Date: 2009-09

Variant appearance in text: rs2774276

PubMed Link: 23675152

Variant Present in the following documents:

• Main text
• IJBS-05-305.pdf

View BVdb publication page

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Upstream transcription factor 1 (USF1) polymorphisms associate with Alzheimer's disease-related neuropathological lesions: Tampere Autopsy Study.

Brain Pathology (Zurich, Switzerland)

Isotalo, Karita K; Kok, Eloise Helena EH; Luoto, Teemu M TM; Haikonen, Satu S; Haapasalo, Hannu H; Lehtimäki, Terho T; Karhunen, Pekka J PJ

Publication Date: 2012-11

Variant appearance in text: rs2774276

PubMed Link: 22390463

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pathway-Targeted Pharmacogenomics of CYP1A2 in Human Liver.

Frontiers In Pharmacology

Klein, Kathrin K; Winter, Stefan S; Turpeinen, Miia M; Schwab, Matthias M; Zanger, Ulrich M UM

Publication Date: 2010

Variant appearance in text: rs2774276

PubMed Link: 21918647

Variant Present in the following documents:

• Main text
• fphar-01-00129.pdf

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Gene-gene interaction between APOA5 and USF1: two candidate genes for the metabolic syndrome.

Obesity Facts

Singmann, Paula P; Baumert, Jens J; Herder, Christian C; Meisinger, Christa C; Holzapfel, Christina C; Klopp, Norman N; Wichmann, H-Erich HE; Klingenspor, Martin M; Rathmann, Wolfgang W; Illig, Thomas T; Grallert, Harald H

Publication Date: 2009

Variant appearance in text: rs2774276

PubMed Link: 20054229

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic association and interaction analysis of USF1 and APOA5 on lipid levels and atherosclerosis.

Arteriosclerosis, Thrombosis, And Vascular Biology

Laurila, Pirkka-Pekka PP; Naukkarinen, Jussi J; Kristiansson, Kati K; Ripatti, Samuli S; Kauttu, Tuuli T; Silander, Kaisa K; Salomaa, Veikko V; Perola, Markus M; Karhunen, Pekka J PJ; Barter, Philip J PJ; Ehnholm, Christian C; Peltonen, Leena L

Publication Date: 2010-02

Variant appearance in text: rs2774276

PubMed Link: 19910639

Variant Present in the following documents:

• Main text

View BVdb publication page

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Body mass index is associated with USF1 haplotype in Korean premenopausal women.

Journal Of Korean Medical Science

Lee, Seong-Kyu SK; Kim, Hyun-Jin HJ; Kim, Byung-Joon BJ; Jo, Young-Suk YS; Park, Kang-Seo KS; Baik, Haing-Woon HW; Hyun, Sung Hee SH; Lee, Je Chul JC; Kim, Soon Ae SA

Publication Date: 2008-02

Variant appearance in text: rs2774276

PubMed Link: 18303204

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association analysis of allelic variants of USF1 in coronary atherosclerosis.

Arteriosclerosis, Thrombosis, And Vascular Biology

Kristiansson, Kati K; Ilveskoski, Erkki E; Lehtimäki, Terho T; Peltonen, Leena L; Perola, Markus M; Karhunen, Pekka J PJ

Publication Date: 2008-05

Variant appearance in text: rs2774276

PubMed Link: 18276913

Variant Present in the following documents:

• Main text

View BVdb publication page

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Risk alleles of USF1 gene predict cardiovascular disease of women in two prospective studies.

Plos Genetics

Komulainen, Kati K; Alanne, Mervi M; Auro, Kirsi K; Kilpikari, Riika R; Pajukanta, Päivi P; Saarela, Janna J; Ellonen, Pekka P; Salminen, Kaisa K; Kulathinal, Sangita S; Kuulasmaa, Kari K; Silander, Kaisa K; Salomaa, Veikko V; Perola, Markus M; Peltonen, Leena L

Publication Date: 2006-05

Variant appearance in text: rs2774276

PubMed Link: 16699592

Variant Present in the following documents:

• Main text
• pgen.0020069.pdf

View BVdb publication page

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