Publications:

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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: NPY2R: I195I

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_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: NPY2R: I195I

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Neuropeptide Y as a risk factor for cardiorenal disease and cognitive dysfunction in CKD: translational opportunities and challenges.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Zoccali, Carmine C; Ortiz, Alberto A; Blumbyte, Inga Arune IA; Rudolf, Sarina S; Beck-Sickinger, Annette G AG; Malyszko, Jolanta J; Spasovski, Goce G; Carriazo, Sol S; Viggiano, Davide D; Kurganaite, Justina J; Sarkeviciene, Vaiva V; Rastenyte, Daiva D; Figurek, Andreja A; Rroji, Merita M; Mayer, Christopher C; Arici, Mustapha M; Martino, Gianvito G; Tedeschi, Gioacchino G; Bruchfeld, Annette A; Spoto, Belinda B; Rychlik, Ivan I; Wiecek, Andrzej A; Okusa, Mark M; Remuzzi, Giuseppe G; Mallamaci, Francesca F; ,

Publication Date: 2021-11-01

Variant appearance in text: NPY2R: Ile195Ile; rs1047214

PubMed Link: 34724060

Variant Present in the following documents:

View BVdb publication page

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Neuropeptide Y as a risk factor for cardiorenal disease and cognitive dysfunction in chronic kidney disease: translational opportunities and challenges.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Zoccali, Carmine C; Ortiz, Alberto A; Blumbyte, Inga Arune IA; Rudolf, Sarina S; Beck-Sickinger, Annette G AG; Malyszko, Jolanta J; Spasovski, Goce G; Carriazo, Sol S; Viggiano, Davide D; Kurganaite, Justina J; Sarkeviciene, Vaiva V; Rastenyte, Daiva D; Figurek, Andreja A; Rroji, Merita M; Mayer, Christopher C; Arici, Mustapha M; Martino, Gianvito G; Tedeschi, Gioacchino G; Bruchfeld, Annette A; Spoto, Belinda B; Rychlik, Ivan I; Wiecek, Andrzej A; Okusa, Mark M; Remuzzi, Giuseppe G; Mallamaci, Francesca F; ,

Publication Date: 2021-12-28

Variant appearance in text: NPY2R: Ile195Ile; rs1047214

PubMed Link: 34724060

Variant Present in the following documents:

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: N/A

PubMed Link: 34054912

Variant Present in the following documents:

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: NPY2R: I195I; rs1047214

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: N/A

PubMed Link: 33420045

Variant Present in the following documents:

View BVdb publication page

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Further evidence for the association of GAL, GALR1 and NPY1R variants with opioid dependence.

Pharmacogenomics

Randesi, Matthew M; Levran, Orna O; den Brink, Wim van WV; Blanken, Peter P; van Ree, Jan M JM; Ott, Jurg J; Kreek, Mary J MJ

Publication Date: 2020-08

Variant appearance in text: rs1047214

PubMed Link: 32757697

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: NPY2R: I195I; rs1047214

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

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: rs1047214

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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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: NPY2R: I195I; rs1047214

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM10_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_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: rs1047214

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

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: NPY2R: 585C>T; rs1047214

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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Association between gene polymorphisms and obesity and physical fitness in Korean children.

Biology Of Sport

Kim, Hyun Jun HJ; Lee, Sang Yeoup SY; Kim, Cheol Min CM

Publication Date: 2018-03

Variant appearance in text: rs1047214

PubMed Link: 30237658

Variant Present in the following documents:

• Main text
• JBS-35-70748.pdf

View BVdb publication page

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Peripherally Administered Y2-Receptor Antagonist BIIE0246 Prevents Diet-Induced Obesity in Mice With Excess Neuropeptide Y, but Enhances Obesity in Control Mice.

Frontiers In Pharmacology

Ailanen, Liisa L; Vähätalo, Laura H LH; Salomäki-Myftari, Henriikka H; Mäkelä, Satu S; Orpana, Wendy W; Ruohonen, Suvi T ST; Savontaus, Eriika E

Publication Date: 2018

Variant appearance in text: rs1047214

PubMed Link: 29674968

Variant Present in the following documents:

• Main text
• fphar-09-00319.pdf

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: NPY2R: I195I; rs1047214

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4

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: rs1047214

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: NPY2R: I195I; rs1047214

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

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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: NPY2R: I195I; rs1047214

PubMed Link: 25944692

Variant Present in the following documents:

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

View BVdb publication page

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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: NPY2R: I195I

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: NPY2R: I195I; rs1047214

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: NPY2R: I195I

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s002.xls, sheet 3
• pone.0109576.s001.xls, sheet 3
• pone.0109576.s003.xls, sheet 3

View BVdb publication page

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Meta-analyses between 18 candidate genetic markers and overweight/obesity.

Diagnostic Pathology

Tang, Linlin L; Ye, Huadan H; Hong, Qingxiao Q; Chen, Fei F; Wang, Qinwen Q; Xu, Leiting L; Bu, Shizhong S; Liu, Qiong Q; Ye, Meng M; Wang, Dao Wen DW; Mai, Yifeng Y; Duan, Shiwei S

Publication Date: 2014-03-12

Variant appearance in text: rs1047214

PubMed Link: 24621099

Variant Present in the following documents:

• Main text

View BVdb publication page

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Lack of Association Between Variants within the AHSG , HCRT and NPY2R Genes and Anthropometrical Parameters in Czech Post-Monica Study.

Balkan Journal Of Medical Genetics : Bjmg

Jurcikova, L L; Adamkova, V V; Lanska, V V; Suchanek, P P; Hubacek, Ja J

Publication Date: 2013-06

Variant appearance in text: rs1047214

PubMed Link: 24265586

Variant Present in the following documents:

• Main text
• bjmg-16-01-63.pdf

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: NPY2R: I195I; rs1047214

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1
• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

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Heredity and cardiometabolic risk: naturally occurring polymorphisms in the human neuropeptide Y(2) receptor promoter disrupt multiple transcriptional response motifs.

Journal Of Hypertension

Wei, Zhiyun Z; Zhang, Kuixing K; Wen, Gen G; Balasubramanian, Karthika K; Shih, Pei-an B PA; Rao, Fangwen F; Friese, Ryan S RS; Miramontes-Gonzalez, Jose P JP; Schmid-Schoenbein, Geert W GW; Kim, Hyung-Suk HS; Mahata, Sushil K SK; O'Connor, Daniel T DT

Publication Date: 2013-01

Variant appearance in text: NPY2R: Ile195Ile; rs1047214

PubMed Link: 23149563

Variant Present in the following documents:

• Main text

View BVdb publication page

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Appetite regulation genes are associated with body mass index in black South African adolescents: a genetic association study.

Bmj Open

Lombard, Zané Z; Crowther, Nigel J NJ; van der Merwe, Lize L; Pitamber, Punita P; Norris, Shane A SA; Ramsay, Michèle M

Publication Date: 2012

Variant appearance in text: rs1047214

PubMed Link: 22614171

Variant Present in the following documents:

• Main text
• bmjopen-2012-000873.draft_revisions.pdf
• bmjopen-2012-000873.pdf

View BVdb publication page

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Variants in neuropeptide Y receptor 1 and 5 are associated with nutrient-specific food intake and are under recent selection in Europeans.

Plos One

Elbers, Clara C CC; de Kovel, Carolien G F CG; van der Schouw, Yvonne T YT; Meijboom, Juliaan R JR; Bauer, Florianne F; Grobbee, Diederick E DE; Trynka, Gosia G; van Vliet-Ostaptchouk, Jana V JV; Wijmenga, Cisca C; Onland-Moret, N Charlotte NC

Publication Date: 2009-09-17

Variant appearance in text: rs1047214

PubMed Link: 19759915

Variant Present in the following documents:

• Main text
• pone.0007070.pdf

View BVdb publication page

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Novel genetic variants contributing to left ventricular hypertrophy: the HyperGEN study.

Journal Of Hypertension

Arnett, Donna K DK; Devereux, Richard B RB; Rao, Dabeeru C DC; Li, Na N; Tang, Weihong W; Kraemer, Rachel R; Claas, Steven A SA; Leon, Joanlise M JM; Broeckel, Ulrich U

Publication Date: 2009-08

Variant appearance in text: rs1047214

PubMed Link: 19593212

Variant Present in the following documents:

• Main text

View BVdb publication page

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Medical sequencing at the extremes of human body mass.

American Journal Of Human Genetics

Ahituv, Nadav N; Kavaslar, Nihan N; Schackwitz, Wendy W; Ustaszewska, Anna A; Martin, Joel J; Hebert, Sybil S; Doelle, Heather H; Ersoy, Baran B; Kryukov, Gregory G; Schmidt, Steffen S; Yosef, Nir N; Ruppin, Eytan E; Sharan, Roded R; Vaisse, Christian C; Sunyaev, Shamil S; Dent, Robert R; Cohen, Jonathan J; McPherson, Ruth R; Pennacchio, Len A LA

Publication Date: 2007-04

Variant appearance in text: NPY2R: I195I; rs1047214

PubMed Link: 17357083

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variations in peptide YY and Y2 receptor genes are associated with severe obesity in Pima Indian men.

Diabetes

Ma, Lijun L; Tataranni, P Antonio PA; Hanson, Robert L RL; Infante, Aniello M AM; Kobes, Sayuko S; Bogardus, Clifton C; Baier, Leslie J LJ

Publication Date: 2005-05

Variant appearance in text: rs1047214

PubMed Link: 15855352

Variant Present in the following documents:

• Main text

View BVdb publication page

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