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: rs3918256

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: rs3918256

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

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The polymorphisms of extracellular matrix-remodeling genes are associated with pelvic organ prolapse.

International Urogynecology Journal

Li, Lei L; Ma, Yidi Y; Yang, Hua H; Sun, Zhijing Z; Chen, Juan J; Zhu, Lan L

Publication Date: 2022-01-01

Variant appearance in text: rs3918256

PubMed Link: 34973089

Variant Present in the following documents:

• Main text
• 192_2021_Article_4917.pdf

View BVdb publication page

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The polymorphisms of extracellular matrix-remodeling genes are associated with pelvic organ prolapse.

International Urogynecology Journal

Li, Lei L; Ma, Yidi Y; Yang, Hua H; Sun, Zhijing Z; Chen, Juan J; Zhu, Lan L

Publication Date: 2022-02

Variant appearance in text: rs3918256

PubMed Link: 34973089

Variant Present in the following documents:

• Main text
• 192_2021_Article_4917.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: MMP9: 1174+7G>A; rs3918256

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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Systematic review and meta-analysis of genetic association studies of pelvic organ prolapse.

International Urogynecology Journal

Allen-Brady, Kristina K; Chua, John W F JWF; Cuffolo, Romana R; Koch, Marianne M; Sorrentino, Felice F; Cartwright, Rufus R

Publication Date: 2021-04-24

Variant appearance in text: rs3918256

PubMed Link: 33893823

Variant Present in the following documents:

• Main text

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: MMP9: 1174+7G>A; rs3918256

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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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: rs3918256

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM13_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM11_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1

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: MMP9: 1174+7G>A; rs3918256

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onset.

Annals Of Clinical And Translational Neurology

Santos, Diana D; Coelho, Teresa T; Alves-Ferreira, Miguel M; Sequeiros, Jorge J; Mendonça, Denisa D; Alonso, Isabel I; Lemos, Carolina C; Sousa, Alda A

Publication Date: 2017-02

Variant appearance in text: rs3918256

PubMed Link: 28168209

Variant Present in the following documents:

• Main text
• ACN3-4-98.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: rs3918256

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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An Inflammatory Polymorphisms Risk Scoring System for the Differentiation of Ischemic Stroke Subtypes.

Mediators Of Inflammation

Muiño, Elena E; Krupinski, Jurek J; Carrera, Caty C; Gallego-Fabrega, Cristina C; Montaner, Joan J; Fernández-Cadenas, Israel I

Publication Date: 2015

Variant appearance in text: rs3918256

PubMed Link: 26355258

Variant Present in the following documents:

• Main text
• MI2015-569714.pdf

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Systematic review and metaanalysis of genetic association studies of urinary symptoms and prolapse in women.

American Journal Of Obstetrics And Gynecology

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

Publication Date: 2015-02

Variant appearance in text: rs3918256

PubMed Link: 25111588

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic epidemiology of pelvic organ prolapse: a systematic review.

American Journal Of Obstetrics And Gynecology

Ward, Renée M RM; Velez Edwards, Digna R DR; Edwards, Todd T; Giri, Ayush A; Jerome, Rebecca N RN; Wu, Jennifer M JM

Publication Date: 2014-10

Variant appearance in text: rs3918256

PubMed Link: 24721264

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in the fetal progesterone receptor and a calcium-activated potassium channel isoform are associated with preterm birth in an Argentinian population.

Journal Of Perinatology : Official Journal Of The California Perinatal Association

Mann, P C PC; Cooper, M E ME; Ryckman, K K KK; Comas, B B; Gili, J J; Crumley, S S; Bream, E N A EN; Byers, H M HM; Piester, T T; Schaefer, A A; Christine, P J PJ; Lawrence, A A; Schaa, K L KL; Kelsey, K J P KJ; Berends, S K SK; Momany, A M AM; Gadow, E E; Cosentino, V V; Castilla, E E EE; López Camelo, J J; Saleme, C C; Day, L J LJ; England, S K SK; Marazita, M L ML; Dagle, J M JM; Murray, J C JC

Publication Date: 2013-05

Variant appearance in text: rs3918256

PubMed Link: 23018797

Variant Present in the following documents:

• Main text

View BVdb publication page

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Matrix metalloproteinase-9 genetic polymorphisms and the risk for advanced pelvic organ prolapse.

Obstetrics And Gynecology

Wu, Jennifer M JM; Visco, Anthony G AG; Grass, Elizabeth A EA; Craig, Damian M DM; Fulton, Rebekah G RG; Haynes, Carol C; Weidner, Alison C AC; Shah, Svati H SH

Publication Date: 2012-09

Variant appearance in text: rs3918256

PubMed Link: 22914468

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gene variants in the angiogenesis pathway and prostate cancer.

Carcinogenesis

Amankwah, Ernest K EK; Sellers, Thomas A TA; Park, Jong Y JY

Publication Date: 2012-07

Variant appearance in text: rs3918256

PubMed Link: 22523086

Variant Present in the following documents:

• Main text

View BVdb publication page

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MMP9 polymorphisms and breast cancer risk: a report from the Shanghai Breast Cancer Genetics Study.

Breast Cancer Research And Treatment

Beeghly-Fadiel, Alicia A; Lu, Wei W; Shu, Xiao-Ou XO; Long, Jirong J; Cai, Qiuyin Q; Xiang, Yongbin Y; Gao, Yu-Tang YT; Zheng, Wei W

Publication Date: 2011-04

Variant appearance in text: rs3918256

PubMed Link: 20725776

Variant Present in the following documents:

• Main text

View BVdb publication page

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MMP-9 gene variants increase the risk for non-atopic asthma in children.

Respiratory Research

Pinto, Leonardo A LA; Depner, Martin M; Klopp, Norman N; Illig, Thomas T; Vogelberg, Christian C; von Mutius, Erika E; Kabesch, Michael M

Publication Date: 2010-02-24

Variant appearance in text: rs3918256

PubMed Link: 20181264

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of MMP-2 polymorphisms with severe and very severe COPD: a case control study of MMPs-1, 9 and 12 in a European population.

Bmc Medical Genetics

Haq, Imran I; Chappell, Sally S; Johnson, Simon R SR; Lotya, Juzer J; Daly, Leslie L; Morgan, Kevin K; Guetta-Baranes, Tamar T; Roca, Josep J; Rabinovich, Roberto R; Millar, Ann B AB; Donnelly, Seamas C SC; Keatings, Vera V; MacNee, William W; Stolk, Jan J; Hiemstra, Pieter S PS; Miniati, Massimo M; Monti, Simonetta S; O'Connor, Clare M CM; Kalsheker, Noor N

Publication Date: 2010-01-15

Variant appearance in text: rs3918256

PubMed Link: 20078883

Variant Present in the following documents:

• Main text
• 1471-2350-11-7.pdf

View BVdb publication page

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