Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: N/A

PubMed Link: 36755093

Variant Present in the following documents:

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: rs1764391

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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Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population.

Journal Of The American Heart Association

Shi, Mengyao M; Kelly, Tanika N TN; Zhu, Zhengbao Z; Li, Changwei C; Shen, Chong C; Sun, Yingxian Y; Wang, Aili A; Shan, Guangliang G; Bu, Xiaoqing X; Guo, Daoxia D; Zhao, Jingbo J; Xu, Tan T; Peng, Hao H; Xu, Tian T; Zhong, Chongke C; Sun, Xiao X; Chen, Jing J; Zhang, Yonghong Y; He, Jiang J

Publication Date: 2022-10-04

Variant appearance in text: rs1764391

PubMed Link: 36193932

Variant Present in the following documents:

• JAH3-11-e025245.pdf

View BVdb publication page

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Gene-diet interactions and cardiovascular diseases: a systematic review of observational and clinical trials.

Bmc Cardiovascular Disorders

Roa-Díaz, Zayne M ZM; Teuscher, Julian J; Gamba, Magda M; Bundo, Marvin M; Grisotto, Giorgia G; Wehrli, Faina F; Gamboa, Edna E; Rojas, Lyda Z LZ; Gómez-Ochoa, Sergio A SA; Verhoog, Sanne S; Vargas, Manuel Frias MF; Minder, Beatrice B; Franco, Oscar H OH; Dehghan, Abbas A; Pazoki, Raha R; Marques-Vidal, Pedro P; Muka, Taulant T

Publication Date: 2022-08-20

Variant appearance in text: rs1764391

PubMed Link: 35987633

Variant Present in the following documents:

• Main text
• 12872_2022_Article_2808.pdf

View BVdb publication page

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Pilot study on evaluation and determination of the prevalence of Polycystic Ovarian Syndrome (PCOS) associated gene markers in the South Indian population.

Indian Journal Of Endocrinology And Metabolism

Ramanathan, Balaji B; Murugan, Jeyasudha J; Velayutham, Kumaravel K

Publication Date: 2021

Variant appearance in text: rs1764391

PubMed Link: 35355907

Variant Present in the following documents:

• IJEM-25-551.pdf

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The role of connexin 37 polymorphism in spontaneous abortion.

Physiological Research

Kníže, M M; Piťha, J J; Hubacek, J A JA; Fait, T T

Publication Date: 2021-07-12

Variant appearance in text: rs1764391

PubMed Link: 33982579

Variant Present in the following documents:

• Main text

View BVdb publication page

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SARS CoV2 infection _The longevity study perspectives.

Ageing Research Reviews

Lio, Domenico D; Scola, Letizia L; Giarratana, Rosa Maria RM; Candore, Giuseppina G; Colonna-Romano, Giuseppina G; Caruso, Calogero C; Balistreri, Carmela Rita CR

Publication Date: 2021-05

Variant appearance in text: rs1764391

PubMed Link: 33607290

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: rs1764391

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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Interaction Between Methylenetetrahydrofolate Reductase (MTHFR) Gene Polymorphisms and Environment with Susceptibility to Ischemic Stroke in Chinese Population.

Annals Of Indian Academy Of Neurology

Zheng, Xing-Zhen XZ; Bian, Xiao-Lin XL; Sun, Zhe-Hong ZH; Wang, Hai-Dong HD

Publication Date: 2020

Variant appearance in text: rs1764391

PubMed Link: 33223666

Variant Present in the following documents:

• Main text

View BVdb publication page

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Impact of a Gap Junction Protein Alpha 4 Variant on Clinical Disease Phenotype in F508del Homozygous Patients With Cystic Fibrosis.

Frontiers In Genetics

Horn, Tabea T; Ludwig, Michael M; Eickmeier, Olaf O; Neerinex, Anne H AH; Maitland-van der Zee, Anke H AH; Smaczny, Christina C; Wagner, Thomas O F TOF; Schubert, Ralf R; Zielen, Stefan S; Majoor, Christof C; Bos, Lieuwe D LD; Schmitt-Grohé, Sabina S

Publication Date: 2020

Variant appearance in text: rs1764391

PubMed Link: 33193670

Variant Present in the following documents:

• Main text
• fgene-11-570403.pdf

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs1764391

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_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: rs1764391

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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Polymorphism of CONNEXIN37 gene is a risk factor for ischemic stroke in Han Chinese population.

Lipids In Health And Disease

Li, Hong H; Yu, Shasha S; Wang, Rui R; Sun, Zhaoqing Z; Zhou, Xinghu X; Zheng, Liqiang L; Yin, Zhihua Z; Sun, Yingxian Y

Publication Date: 2018-04-10

Variant appearance in text: rs1764391

PubMed Link: 29631604

Variant Present in the following documents:

• Main text

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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: rs1764391

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: rs1764391

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Lack of association between the connexin 37 C1019T gene polymorphism and coronary artery disease in a Chinese population: Meta-analysis of 2,206 subjects.

Biomedical Reports

Li, Yan-Yan YY; Qian, Yun Y; Zhou, Chuan-Wei CW

Publication Date: 2013-05

Variant appearance in text: rs1764391

PubMed Link: 24648969

Variant Present in the following documents:

• Main text

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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: rs1764391

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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Are centenarians genetically predisposed to lower disease risk?

Age (Dordrecht, Netherlands)

Ruiz, Jonatan R JR; Fiuza-Luces, Carmen C; Buxens, Amaya A; Cano-Nieto, Amalia A; Gómez-Gallego, Félix F; Santiago, Catalina C; Rodríguez-Romo, Gabriel G; Garatachea, Nuria N; Lao, José I JI; Morán, María M; Lucia, Alejandro A

Publication Date: 2012-10

Variant appearance in text: rs1764391

PubMed Link: 21894447

Variant Present in the following documents:

• Main text

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Pharmacogenetics of minimal residual disease response in children with B-precursor acute lymphoblastic leukemia: a report from the Children's Oncology Group.

Blood

Davies, Stella M SM; Borowitz, Michael J MJ; Rosner, Gary L GL; Ritz, Kristin K; Devidas, Meenakshi M; Winick, Naomi N; Martin, Paul L PL; Bowman, Paul P; Elliott, James J; Willman, Cheryl C; Das, Soma S; Cook, Edwin H EH; Relling, Mary V MV

Publication Date: 2008-03-15

Variant appearance in text: rs1764391

PubMed Link: 18182569

Variant Present in the following documents:

• Main text

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Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study.

Arteriosclerosis, Thrombosis, And Vascular Biology

Shiffman, Dov D; O'Meara, Ellen S ES; Bare, Lance A LA; Rowland, Charles M CM; Louie, Judy Z JZ; Arellano, Andre R AR; Lumley, Thomas T; Rice, Kenneth K; Iakoubova, Olga O; Luke, May M MM; Young, Bradford A BA; Malloy, Mary J MJ; Kane, John P JP; Ellis, Stephen G SG; Tracy, Russell P RP; Devlin, James J JJ; Psaty, Bruce M BM

Publication Date: 2008-01

Variant appearance in text: rs1764391

PubMed Link: 17975119

Variant Present in the following documents:

• Main text

View BVdb publication page

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