Publications:

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Inflammation, microbiome and colorectal cancer disparity in African-Americans: Are there bugs in the genetics?

World Journal Of Gastroenterology

Ahmad, Sami S; Ashktorab, Hassan H; Brim, Hassan H; Housseau, Franck F

Publication Date: 2022-07-07

Variant appearance in text: rs3754689

PubMed Link: 35978869

Variant Present in the following documents:

• WJG-28-2782.pdf

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Ileal Lactase Expression Associates with Lactase Persistence Genotypes.

Nutrients

Nowak, Jan Krzysztof JK; Dybska, Emilia E; Dworacka, Marzena M; Tsikhan, Natallia N; Kononets, Victoria V; Bermagambetova, Saule S; Walkowiak, Jarosław J

Publication Date: 2021-04-17

Variant appearance in text: rs3754689

PubMed Link: 33920682

Variant Present in the following documents:

• Main text

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Genome-wide association studies and heritability analysis reveal the involvement of host genetics in the Japanese gut microbiota.

Communications Biology

Ishida, Sachiko S; Kato, Kumiko K; Tanaka, Masami M; Odamaki, Toshitaka T; Kubo, Ryuichi R; Mitsuyama, Eri E; Xiao, Jin-Zhong JZ; Yamaguchi, Rui R; Uematsu, Satoshi S; Imoto, Seiya S; Miyano, Satoru S

Publication Date: 2020-11-18

Variant appearance in text: rs3754689

PubMed Link: 33208821

Variant Present in the following documents:

• Main text
• 42003_2020_Article_1416.pdf

View BVdb publication page

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TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.

European Journal Of Human Genetics : Ejhg

Spitali, Pietro P; Zaharieva, Irina I; Bohringer, Stefan S; Hiller, Monika M; Chaouch, Amina A; Roos, Andreas A; Scotton, Chiara C; Claustres, Mireille M; Bello, Luca L; McDonald, Craig M CM; Hoffman, Eric P EP; , ; Koeks, Zaida Z; Eka Suchiman, H H; Cirak, Sebahattin S; Scoto, Mariacristina M; Reza, Mojgan M; 't Hoen, Peter A C PAC; Niks, Erik H EH; Tuffery-Giraud, Sylvie S; Lochmüller, Hanns H; Ferlini, Alessandra A; Muntoni, Francesco F; Aartsma-Rus, Annemieke A

Publication Date: 2020-06

Variant appearance in text: rs3754689

PubMed Link: 31896777

Variant Present in the following documents:

• Main text
• 41431_2019_Article_563.pdf

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Variation of rs3754689 at lactase gene and inhibitors in admixed Brazilian patients with hemophilia A.

Haematologica

Zuccherato, Luciana W LW; Elói-Santos, Silvana M SM; Jardim, Letícia L LL; Camelo, Ricardo M RM; Chaves, Daniel G DG; Souza, Renan P RP; Hollox, Edward J EJ; Rezende, Suely M SM

Publication Date: 2019-11

Variant appearance in text: rs3754689

PubMed Link: 30872367

Variant Present in the following documents:

• Main text

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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: rs3754689

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs3754689

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Adaptation to milking agropastoralism in Chilean goat herders and nutritional benefit of lactase persistence.

Annals Of Human Genetics

Montalva, Nicolás N; Adhikari, Kaustubh K; Liebert, Anke A; Mendoza-Revilla, Javier J; Flores, Sergio V SV; Mace, Ruth R; Swallow, Dallas M DM

Publication Date: 2019-01

Variant appearance in text: rs3754689

PubMed Link: 30264486

Variant Present in the following documents:

• Main text
• AHG-83-11-s001.pdf
• AHG-83-11.pdf

View BVdb publication page

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World-wide distributions of lactase persistence alleles and the complex effects of recombination and selection.

Human Genetics

Liebert, Anke A; López, Saioa S; Jones, Bryony Leigh BL; Montalva, Nicolas N; Gerbault, Pascale P; Lau, Winston W; Thomas, Mark G MG; Bradman, Neil N; Maniatis, Nikolas N; Swallow, Dallas M DM

Publication Date: 2017-11

Variant appearance in text: rs3754689

PubMed Link: 29063188

Variant Present in the following documents:

• 439_2017_1847_MOESM1_ESM.pdf

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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: rs3754689

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Host genetic variation impacts microbiome composition across human body sites.

Genome Biology

Blekhman, Ran R; Goodrich, Julia K JK; Huang, Katherine K; Sun, Qi Q; Bukowski, Robert R; Bell, Jordana T JT; Spector, Timothy D TD; Keinan, Alon A; Ley, Ruth E RE; Gevers, Dirk D; Clark, Andrew G AG

Publication Date: 2015-09-15

Variant appearance in text: rs3754689

PubMed Link: 26374288

Variant Present in the following documents:

• 13059_2015_759_MOESM2_ESM.pdf

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs3754689

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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Several different lactase persistence associated alleles and high diversity of the lactase gene in the admixed Brazilian population.

Plos One

Friedrich, Deise C DC; Santos, Sidney E B SE; Ribeiro-dos-Santos, Ândrea K C ÂK; Hutz, Mara H MH

Publication Date: 2012

Variant appearance in text: rs3754689

PubMed Link: 23029545

Variant Present in the following documents:

• Main text
• pone.0046520.pdf

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Implications for health and disease in the genetic signature of the Ashkenazi Jewish population.

Genome Biology

Guha, Saurav S; Rosenfeld, Jeffrey A JA; Malhotra, Anil K AK; Lee, Annette T AT; Gregersen, Peter K PK; Kane, John M JM; Pe'er, Itsik I; Darvasi, Ariel A; Lencz, Todd T

Publication Date: 2012-01-25

Variant appearance in text: rs3754689

PubMed Link: 22277159

Variant Present in the following documents:

• Main text
• gb-2012-13-1-r2.pdf

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Polymorphism in the protease-activated receptor-4 gene region associates with platelet activation and perioperative myocardial injury.

American Journal Of Hematology

Muehlschlegel, Jochen D JD; Perry, Tjörvi E TE; Liu, Kuang-Yu KY; Fox, Amanda A AA; Smith, Shane A SA; Lichtner, Peter P; Collard, Charles D CD; Shernan, Stanton K SK; Hartwig, John H JH; Body, Simon C SC; Hoffmeister, Karin M KM

Publication Date: 2012-02

Variant appearance in text: rs3754689

PubMed Link: 22228373

Variant Present in the following documents:

• Main text

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Variation in the 4q25 chromosomal locus predicts atrial fibrillation after coronary artery bypass graft surgery.

Circulation. Cardiovascular Genetics

Body, Simon C SC; Collard, Charles D CD; Shernan, Stanton K SK; Fox, Amanda A AA; Liu, Kuang-Yu KY; Ritchie, Marylyn D MD; Perry, Tjörvi E TE; Muehlschlegel, Jochen D JD; Aranki, Sary S; Donahue, Brian S BS; Pretorius, Mias M; Estrada, Juan-Carlos JC; Ellinor, Patrick T PT; Newton-Cheh, Christopher C; Seidman, Christine E CE; Seidman, J G JG; Herman, Daniel S DS; Lichtner, Peter P; Meitinger, Thomas T; Pfeufer, Arne A; Kääb, Stefan S; Brown, Nancy J NJ; Roden, Dan M DM; Darbar, Dawood D

Publication Date: 2009-10

Variant appearance in text: rs3754689

PubMed Link: 20031626

Variant Present in the following documents:

• Main text

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Natriuretic peptide system gene variants are associated with ventricular dysfunction after coronary artery bypass grafting.

Anesthesiology

Fox, Amanda A AA; Collard, Charles D CD; Shernan, Stanton K SK; Seidman, Christine E CE; Seidman, Jonathan G JG; Liu, Kuang-Yu KY; Muehlschlegel, Jochen D JD; Perry, Tjorvi E TE; Aranki, Sary F SF; Lange, Christoph C; Herman, Daniel S DS; Meitinger, Thomas T; Lichtner, Peter P; Body, Simon C SC

Publication Date: 2009-04

Variant appearance in text: rs3754689

PubMed Link: 19326473

Variant Present in the following documents:

• Main text

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Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.

American Journal Of Human Genetics

Kuokkanen, Mikko M; Kokkonen, Jorma J; Enattah, Nabil Sabri NS; Ylisaukko-Oja, Tero T; Komu, Hanna H; Varilo, Teppo T; Peltonen, Leena L; Savilahti, Erkki E; Jarvela, Irma I

Publication Date: 2006-02

Variant appearance in text: rs3754689

PubMed Link: 16400612

Variant Present in the following documents:

• Main text

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