Publications:

---

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: SLC41A1: N252N

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2

View BVdb publication page

---

Imperative Role of Machine Learning Algorithm for Detection of Parkinson's Disease: Review, Challenges and Recommendations.

Diagnostics (Basel, Switzerland)

Rana, Arti A; Dumka, Ankur A; Singh, Rajesh R; Panda, Manoj Kumar MK; Priyadarshi, Neeraj N; Twala, Bhekisipho B

Publication Date: 2022-08-19

Variant appearance in text: rs708727

PubMed Link: 36010353

Variant Present in the following documents:

• diagnostics-12-02003.pdf

View BVdb publication page

---

Genome-wide DNA methylation status of Mongolians exhibits signs of cellular stress response related to their nomadic lifestyle.

Journal Of Physiological Anthropology

Inaba, Yuta Y; Iwamoto, Sadahiko S; Nakayama, Kazuhiro K

Publication Date: 2022-08-19

Variant appearance in text: rs708727

PubMed Link: 35986394

Variant Present in the following documents:

• Main text
• 40101_2022_Article_305.pdf

View BVdb publication page

---

Epigenetic Peripheral Biomarkers for Early Diagnosis of Alzheimer's Disease.

Genes

Villa, Chiara C; Stoccoro, Andrea A

Publication Date: 2022-07-22

Variant appearance in text: rs708727

PubMed Link: 35893045

Variant Present in the following documents:

• Main text
• genes-13-01308.pdf

View BVdb publication page

---

Alzheimer's Disease-Associated SNP rs708727 in SLC41A1 May Increase Risk for Parkinson's Disease: Report from Enlarged Slovak Study.

International Journal Of Molecular Sciences

Cibulka, Michal M; Brodnanova, Maria M; Grendar, Marian M; Necpal, Jan J; Benetin, Jan J; Han, Vladimir V; Kurca, Egon E; Nosal, Vladimir V; Skorvanek, Matej M; Vesely, Branislav B; Stanclova, Andrea A; Lasabova, Zora Z; Pös, Zuzana Z; Szemes, Tomas T; Stuchlik, Stanislav S; Grofik, Milan M; Kolisek, Martin M

Publication Date: 2022-01-29

Variant appearance in text: SLC41A1: Asn252Asn; rs708727

PubMed Link: 35163527

Variant Present in the following documents:

• Main text
• ijms-23-01604.pdf

View BVdb publication page

---

Alzheimer's Disease-Associated SNP rs708727 in SLC41A1 May Increase Risk for Parkinson's Disease: Report from Enlarged Slovak Study.

International Journal Of Molecular Sciences

Cibulka, Michal M; Brodnanova, Maria M; Grendar, Marian M; Necpal, Jan J; Benetin, Jan J; Han, Vladimir V; Kurca, Egon E; Nosal, Vladimir V; Skorvanek, Matej M; Vesely, Branislav B; Stanclova, Andrea A; Lasabova, Zora Z; Pös, Zuzana Z; Szemes, Tomas T; Stuchlik, Stanislav S; Grofik, Milan M; Kolisek, Martin M

Publication Date: 2022-01-29

Variant appearance in text: SLC41A1: Asn252Asn; rs708727

PubMed Link: 35163527

Variant Present in the following documents:

• Main text
• ijms-23-01604.pdf

View BVdb publication page

---

Machine Learning for the Diagnosis of Parkinson's Disease: A Review of Literature.

Frontiers In Aging Neuroscience

Mei, Jie J; Desrosiers, Christian C; Frasnelli, Johannes J

Publication Date: 2021

Variant appearance in text: rs708727

PubMed Link: 34025389

Variant Present in the following documents:

• Main text
• fnagi-13-633752.pdf

View BVdb publication page

---

Genetic impacts on DNA methylation: research findings and future perspectives.

Genome Biology

Villicaña, Sergio S; Bell, Jordana T JT

Publication Date: 2021-04-30

Variant appearance in text: rs708727

PubMed Link: 33931130

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Longitudinal data in peripheral blood confirm that PM20D1 is a quantitative trait locus (QTL) for Alzheimer's disease and implicate its dynamic role in disease progression.

Clinical Epigenetics

Wang, Qi Q; Chen, Yinghua Y; Readhead, Benjamin B; Chen, Kewei K; Su, Yi Y; Reiman, Eric M EM; Dudley, Joel T JT

Publication Date: 2020-12-09

Variant appearance in text: rs708727

PubMed Link: 33298155

Variant Present in the following documents:

• Main text
• 13148_2020_Article_984.pdf

View BVdb publication page

---

Dietary Mg2+ Intake and the Na+/Mg2+ Exchanger SLC41A1 Influence Components of Mitochondrial Energetics in Murine Cardiomyocytes.

International Journal Of Molecular Sciences

Tatarkova, Zuzana Z; de Baaij, Jeroen H F JHF; Grendar, Marian M; Aschenbach, Jörg R JR; Racay, Peter P; Bos, Caro C; Sponder, Gerhard G; Hoenderop, Joost G J JGJ; Röntgen, Monika M; Turcanova Koprusakova, Monika M; Kolisek, Martin M

Publication Date: 2020-11-03

Variant appearance in text: rs708727

PubMed Link: 33153064

Variant Present in the following documents:

• ijms-21-08221.pdf

View BVdb publication page

---

Comprehensive analysis of PM20D1 QTL in Alzheimer's disease.

Clinical Epigenetics

Sanchez-Mut, Jose Vicente JV; Glauser, Liliane L; Monk, David D; Gräff, Johannes J

Publication Date: 2020-02-03

Variant appearance in text: rs708727

PubMed Link: 32014019

Variant Present in the following documents:

• Main text
• 13148_2020_Article_814.pdf

View BVdb publication page

---

Methyl-CpG Binding Protein 2 in Alzheimer Dementia.

International Neurourology Journal

Kim, Baeksun B; Choi, Yunjung Y; Kim, Hye-Sun HS; Im, Heh-In HI

Publication Date: 2019-11

Variant appearance in text: rs708727

PubMed Link: 31795606

Variant Present in the following documents:

• Main text
• inj-1938196-098.pdf

View BVdb publication page

---

Natural human genetic variation determines basal and inducible expression of PM20D1, an obesity-associated gene.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Benson, Kiara K KK; Hu, Wenxiang W; Weller, Angela H AH; Bennett, Alexis H AH; Chen, Eric R ER; Khetarpal, Sumeet A SA; Yoshino, Satoshi S; Bone, William P WP; Wang, Lin L; Rabinowitz, Joshua D JD; Voight, Benjamin F BF; Soccio, Raymond E RE

Publication Date: 2019-11-12

Variant appearance in text: rs708727

PubMed Link: 31659023

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: SLC41A1: N252N; rs708727

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

SNPs rs11240569, rs708727, and rs823156 in SLC41A1 Do Not Discriminate Between Slovak Patients with Idiopathic Parkinson's Disease and Healthy Controls: Statistics and Machine-Learning Evidence.

International Journal Of Molecular Sciences

Cibulka, Michal M; Brodnanova, Maria M; Grendar, Marian M; Grofik, Milan M; Kurca, Egon E; Pilchova, Ivana I; Osina, Oto O; Tatarkova, Zuzana Z; Dobrota, Dusan D; Kolisek, Martin M

Publication Date: 2019-09-21

Variant appearance in text: SLC41A1: 756C>T; Asn252Asn; rs708727

PubMed Link: 31546642

Variant Present in the following documents:

• Main text
• ijms-20-04688.pdf

View BVdb publication page

---

A genomic atlas of systemic interindividual epigenetic variation in humans.

Genome Biology

Gunasekara, Chathura J CJ; Scott, C Anthony CA; Laritsky, Eleonora E; Baker, Maria S MS; MacKay, Harry H; Duryea, Jack D JD; Kessler, Noah J NJ; Hellenthal, Garrett G; Wood, Alexis C AC; Hodges, Kelly R KR; Gandhi, Manisha M; Hair, Amy B AB; Silver, Matt J MJ; Moore, Sophie E SE; Prentice, Andrew M AM; Li, Yumei Y; Chen, Rui R; Coarfa, Cristian C; Waterland, Robert A RA

Publication Date: 2019-06-03

Variant appearance in text: rs708727

PubMed Link: 31155008

Variant Present in the following documents:

• Main text
• 13059_2019_Article_1708.pdf

View BVdb publication page

---

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: SLC41A1: N252N; rs708727

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

---

Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: SLC41A1: N252N; rs708727

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

---

Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: SLC41A1: N252N; rs708727

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: SLC41A1: N252N; rs708727

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

Genetic variability at the PARK16 locus.

European Journal Of Human Genetics : Ejhg

Tucci, Arianna A; Nalls, Mike A MA; Houlden, Henry H; Revesz, Tamas T; Singleton, Andrew B AB; Wood, Nicholas W NW; Hardy, John J; Paisán-Ruiz, Coro C

Publication Date: 2010-12

Variant appearance in text: SLC41A1: Asn252Asn; rs708727

PubMed Link: 20683486

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Tissue-specific genetic control of splicing: implications for the study of complex traits.

Plos Biology

Heinzen, Erin L EL; Ge, Dongliang D; Cronin, Kenneth D KD; Maia, Jessica M JM; Shianna, Kevin V KV; Gabriel, Willow N WN; Welsh-Bohmer, Kathleen A KA; Hulette, Christine M CM; Denny, Thomas N TN; Goldstein, David B DB

Publication Date: 2008-12-23

Variant appearance in text: rs708727

PubMed Link: 19222302

Variant Present in the following documents:

• pbio.1000001.pdf

View BVdb publication page

---