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:

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Genetic Susceptibility to Chronic Kidney Disease: Links, Risks and Management.

International Journal Of Nephrology And Renovascular Disease

Sawaf, Hanny H; Gudura, Tariku T TT; Dorobisz, Sylvester S; Sandy, Dianne D; Wang, Xiangling X; Bobart, Shane A SA

Publication Date: 2023

Variant appearance in text: rs219780

PubMed Link: 36636322

Variant Present in the following documents:

• Main text
• ijnrd-16-1.pdf

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: CLDN14: T229T

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Association of functional genetic variants in TFF1 and nephrolithiasis risk in a Chinese population.

Bmc Urology

Wang, Qiangdong Q; Jiang, Yan Y; Du, Mulong M; Yang, Lei L; Yuan, Qinbo Q

Publication Date: 2022-08-20

Variant appearance in text: rs219780

PubMed Link: 35987613

Variant Present in the following documents:

• Main text
• 12894_2022_Article_1081.pdf

View BVdb publication page

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A Genetic Polymorphism in the WDR72 Gene is Associated With Calcium Nephrolithiasis in the Chinese Han Population.

Frontiers In Genetics

Wang, Lujia L; Zhou, Zijian Z; Yang, Yuanyuan Y; Gao, Peng P; Lin, Xiaoling X; Wu, Zhong Z

Publication Date: 2022

Variant appearance in text: rs219780

PubMed Link: 35910217

Variant Present in the following documents:

• Main text
• fgene-13-897051.pdf

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: CLDN14: T229T; rs219780

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Association study of CLDN14 variations in patients with kidney stones.

Open Life Sciences

Ullah, Ihsan I; Murtaza, Khadijah K; Ammara, Hafiza H; Misbah, ; Bhinder, Munir Ahmad MA; Riaz, Amjad A; Shehzad, Wasim W; Zahoor, Muhammad Yasir MY

Publication Date: 2022

Variant appearance in text: rs219780

PubMed Link: 35291565

Variant Present in the following documents:

• Main text
• biol-2021-0134.pdf

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Deciphering genes associated with diffuse large B-cell lymphoma with lymphomatous effusions: A mutational accumulation scoring approach.

Biomarker Research

Abdollahi, Sina S; Dehghanian, Seyedeh Zahra SZ; Hung, Liang-Yi LY; Yang, Shiang-Jie SJ; Chen, Dao-Peng DP; Medeiros, L Jeffrey LJ; Chiang, Jung-Hsien JH; Chang, Kung-Chao KC

Publication Date: 2021-10-09

Variant appearance in text: CLDN14: T229T; rs219780

PubMed Link: 34635181

Variant Present in the following documents:

• 40364_2021_330_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Association of CASR, CALCR, and ORAI1 Genes Polymorphisms With the Calcium Urolithiasis Development in Russian Population.

Frontiers In Genetics

Litvinova, Maria M MM; Khafizov, Kamil K; Korchagin, Vitaly I VI; Speranskaya, Anna S AS; Asanov, Aliy Yu AY; Matsvay, Alina D AD; Kiselev, Daniil A DA; Svetlichnaya, Diana V DV; Nuralieva, Sevda Z SZ; Moskalev, Alexey A AA; Filippova, Tamara V TV

Publication Date: 2021

Variant appearance in text: rs219780

PubMed Link: 34054913

Variant Present in the following documents:

• Main text
• fgene-12-621049.pdf

View BVdb publication page

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Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.

European Journal Of Human Genetics : Ejhg

Publication Date: 2020-12

Variant appearance in text: rs219780

PubMed Link: 33262486

Variant Present in the following documents:

• Main text
• 41431_2020_Article_741.pdf

View BVdb publication page

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Genetic polymorphisms in CLDN14 (rs219780) and ALP (rs1256328) genes are associated with risk of nephrolithiasis in Egyptian children.

Turkish Journal Of Urology

Elshamaa, Manal F MF; Fadel, Fatina I FI; Kamel, Soal S; Farouk, Hebatallah H; Alahmady, Mostafa M; Ramadan, Yasim Y

Publication Date: 2021-01

Variant appearance in text: rs219780

PubMed Link: 33052825

Variant Present in the following documents:

• Main text

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: rs219780

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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Epigenomics and the kidney.

Current Opinion In Nephrology And Hypertension

Wilson, Parker C PC; Ledru, Nicolas N; Humphreys, Benjamin D BD

Publication Date: 2020-05

Variant appearance in text: rs219780

PubMed Link: 32235270

Variant Present in the following documents:

• Main text

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Mouse Models of Human Claudin-Associated Disorders: Benefits and Limitations.

International Journal Of Molecular Sciences

Seker, Murat M; Fernandez-Rodriguez, Carmen C; Martinez-Cruz, Luis Alfonso LA; Müller, Dominik D

Publication Date: 2019-11-05

Variant appearance in text: rs219780

PubMed Link: 31694170

Variant Present in the following documents:

• Main text
• ijms-20-05504.pdf

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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: CLDN14: T229T; rs219780

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population.

Journal Of The American Society Of Nephrology : Jasn

Tanikawa, Chizu C; Kamatani, Yoichiro Y; Terao, Chikashi C; Usami, Masayuki M; Takahashi, Atsushi A; Momozawa, Yukihide Y; Suzuki, Kichiya K; Ogishima, Soichi S; Shimizu, Atsushi A; Satoh, Mamoru M; Matsuo, Keitaro K; Mikami, Haruo H; Naito, Mariko M; Wakai, Kenji K; Yamaji, Taiki T; Sawada, Norie N; Iwasaki, Motoki M; Tsugane, Shoichiro S; Kohri, Kenjiro K; Yu, Alan S L ASL; Yasui, Takahiro T; Murakami, Yoshinori Y; Kubo, Michiaki M; Matsuda, Koichi K

Publication Date: 2019-05

Variant appearance in text: rs219780

PubMed Link: 30975718

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated Functional Genomic Analysis Enables Annotation of Kidney Genome-Wide Association Study Loci.

Journal Of The American Society Of Nephrology : Jasn

Sieber, Karsten B KB; Batorsky, Anna A; Siebenthall, Kyle K; Hudkins, Kelly L KL; Vierstra, Jeff D JD; Sullivan, Shawn S; Sur, Aakash A; McNulty, Michelle M; Sandstrom, Richard R; Reynolds, Alex A; Bates, Daniel D; Diegel, Morgan M; Dunn, Douglass D; Nelson, Jemma J; Buckley, Michael M; Kaul, Rajinder R; Sampson, Matthew G MG; Himmelfarb, Jonathan J; Alpers, Charles E CE; Waterworth, Dawn D; Akilesh, Shreeram S

Publication Date: 2019-02-13

Variant appearance in text: rs219780

PubMed Link: 30760496

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs219780

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Inching toward a Greater Understanding of Genetic Hypercalciuria: The Role of Claudins.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Shah, Ronak Jagdeep RJ; Lieske, John C JC

Publication Date: 2018-10-08

Variant appearance in text: rs219780

PubMed Link: 30232135

Variant Present in the following documents:

• Main text

View BVdb publication page

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Claudin-14 Gene Polymorphisms and Urine Calcium Excretion.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Arcidiacono, Teresa T; Simonini, Marco M; Lanzani, Chiara C; Citterio, Lorena L; Salvi, Erika E; Barlassina, Cristina C; Spotti, Donatella D; Cusi, Daniele D; Manunta, Paolo P; Vezzoli, Giuseppe G

Publication Date: 2018-10-08

Variant appearance in text: rs219780

PubMed Link: 30232134

Variant Present in the following documents:

• Main text

View BVdb publication page

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PDE1A polymorphism contributes to the susceptibility of nephrolithiasis.

Bmc Genomics

Yang, Zhenxing Z; Zhou, Tao T; Sun, Bishao B; Wang, Qingqing Q; Dong, Xingyou X; Hu, Xiaoyan X; Zhong, Jiangfan J; Song, Bo B; Li, Longkun L

Publication Date: 2017-12-20

Variant appearance in text: rs219780

PubMed Link: 29262781

Variant Present in the following documents:

• Main text
• 12864_2017_Article_4247.pdf

View BVdb publication page

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Genetic Variants Associated with Circulating Parathyroid Hormone.

Journal Of The American Society Of Nephrology : Jasn

Robinson-Cohen, Cassianne C; Lutsey, Pamela L PL; Kleber, Marcus E ME; Nielson, Carrie M CM; Mitchell, Braxton D BD; Bis, Joshua C JC; Eny, Karen M KM; Portas, Laura L; Eriksson, Joel J; Lorentzon, Mattias M; Koller, Daniel L DL; Milaneschi, Yuri Y; Teumer, Alexander A; Pilz, Stefan S; Nethander, Maria M; Selvin, Elizabeth E; Tang, Weihong W; Weng, Lu-Chen LC; Wong, Hoi Suen HS; Lai, Dongbing D; Peacock, Munro M; Hannemann, Anke A; Völker, Uwe U; Homuth, Georg G; Nauk, Matthias M; Murgia, Federico F; Pattee, Jack W JW; Orwoll, Eric E; Zmuda, Joseph M JM; Riancho, Jose Antonio JA; Wolf, Myles M; Williams, Frances F; Penninx, Brenda B; Econs, Michael J MJ; Ryan, Kathleen A KA; Ohlsson, Claes C; Paterson, Andrew D AD; Psaty, Bruce M BM; Siscovick, David S DS; Rotter, Jerome I JI; Pirastu, Mario M; Streeten, Elizabeth E; März, Winfried W; Fox, Caroline C; Coresh, Josef J; Wallaschofski, Henri H; Pankow, James S JS; de Boer, Ian H IH; Kestenbaum, Bryan B

Publication Date: 2017-05

Variant appearance in text: rs219780

PubMed Link: 27927781

Variant Present in the following documents:

• Main text

View BVdb publication page

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AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.

Journal Of Medical Genetics

Andreoletti, Gaia G; Seaby, Eleanor G EG; Dewing, Jennifer M JM; O'Kelly, Ita I; Lachlan, Katherine K; Gilbert, Rodney D RD; Ennis, Sarah S

Publication Date: 2017-04

Variant appearance in text: CLDN14: T229T; rs219780

PubMed Link: 27811305

Variant Present in the following documents:

• jmedgenet-2016-104100supp002.pdf

View BVdb publication page

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Common and rare variants associated with kidney stones and biochemical traits.

Nature Communications

Oddsson, Asmundur A; Sulem, Patrick P; Helgason, Hannes H; Edvardsson, Vidar O VO; Thorleifsson, Gudmar G; Sveinbjörnsson, Gardar G; Haraldsdottir, Eik E; Eyjolfsson, Gudmundur I GI; Sigurdardottir, Olof O; Olafsson, Isleifur I; Masson, Gisli G; Holm, Hilma H; Gudbjartsson, Daniel F DF; Thorsteinsdottir, Unnur U; Indridason, Olafur S OS; Palsson, Runolfur R; Stefansson, Kari K

Publication Date: 2015-08-14

Variant appearance in text: rs219780

PubMed Link: 26272126

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in CaSR and CLDN14 Genes Associated with Increased Risk of Kidney Stone Disease in Patients from the Eastern Part of India.

Plos One

Guha, Manalee M; Bankura, Biswabandhu B; Ghosh, Sudakshina S; Pattanayak, Arup Kumar AK; Ghosh, Saurabh S; Pal, Dilip Kumar DK; Puri, Anurag A; Kundu, Anup Kumar AK; Das, Madhusudan M

Publication Date: 2015

Variant appearance in text: CLDN14: Thr229Thr; rs219780

PubMed Link: 26107257

Variant Present in the following documents:

• Main text
• pone.0130790.pdf

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: CLDN14: T229T; rs219780

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-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: CLDN14: T229T; rs219780

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Claudins and the kidney.

Journal Of The American Society Of Nephrology : Jasn

Yu, Alan S L AS

Publication Date: 2015-01

Variant appearance in text: rs219780

PubMed Link: 24948743

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.

Human Molecular Genetics

Zhang, Lei L; Choi, Hyung Jin HJ; Estrada, Karol K; Leo, Paul J PJ; Li, Jian J; Pei, Yu-Fang YF; Zhang, Yinping Y; Lin, Yong Y; Shen, Hui H; Liu, Yao-Zhong YZ; Liu, Yongjun Y; Zhao, Yingchun Y; Zhang, Ji-Gang JG; Tian, Qing Q; Wang, Yu-ping YP; Han, Yingying Y; Ran, Shu S; Hai, Rong R; Zhu, Xue-Zhen XZ; Wu, Shuyan S; Yan, Han H; Liu, Xiaogang X; Yang, Tie-Lin TL; Guo, Yan Y; Zhang, Feng F; Guo, Yan-fang YF; Chen, Yuan Y; Chen, Xiangding X; Tan, Lijun L; Zhang, Lishu L; Deng, Fei-Yan FY; Deng, Hongyi H; Rivadeneira, Fernando F; Duncan, Emma L EL; Lee, Jong Young JY; Han, Bok Ghee BG; Cho, Nam H NH; Nicholson, Geoffrey C GC; McCloskey, Eugene E; Eastell, Richard R; Prince, Richard L RL; Eisman, John A JA; Jones, Graeme G; Reid, Ian R IR; Sambrook, Philip N PN; Dennison, Elaine M EM; Danoy, Patrick P; Yerges-Armstrong, Laura M LM; Streeten, Elizabeth A EA; Hu, Tian T; Xiang, Shuanglin S; Papasian, Christopher J CJ; Brown, Matthew A MA; Shin, Chan Soo CS; Uitterlinden, André G AG; Deng, Hong-Wen HW

Publication Date: 2014-04-01

Variant appearance in text: rs219780

PubMed Link: 24249740

Variant Present in the following documents:

• Main text

View BVdb publication page

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Frequency of rare allelic variation in candidate genes among individuals with low and high urinary calcium excretion.

Plos One

Toka, Hakan R HR; Genovese, Giulio G; Mount, David B DB; Pollak, Martin R MR; Curhan, Gary C GC

Publication Date: 2013

Variant appearance in text: rs219780

PubMed Link: 23991001

Variant Present in the following documents:

• pone.0071885.pdf

View BVdb publication page

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Activation of the Ca(2+)-sensing receptor increases renal claudin-14 expression and urinary Ca(2+) excretion.

American Journal Of Physiology. Renal Physiology

Dimke, Henrik H; Desai, Prajakta P; Borovac, Jelena J; Lau, Alyssa A; Pan, Wanling W; Alexander, R Todd RT

Publication Date: 2013-03-15

Variant appearance in text: rs219780

PubMed Link: 23283989

Variant Present in the following documents:

• Main text

View BVdb publication page

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The role of claudin in hypercalciuric nephrolithiasis.

Current Urology Reports

Hou, Jianghui J

Publication Date: 2013-02

Variant appearance in text: DFNB29: T229T; rs219780

PubMed Link: 23180343

Variant Present in the following documents:

• Main text

View BVdb publication page

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A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1.

Plos Genetics

Urabe, Yuji Y; Tanikawa, Chizu C; Takahashi, Atsushi A; Okada, Yukinori Y; Morizono, Takashi T; Tsunoda, Tatsuhiko T; Kamatani, Naoyuki N; Kohri, Kenjiro K; Chayama, Kazuaki K; Kubo, Michiaki M; Nakamura, Yusuke Y; Matsuda, Koichi K

Publication Date: 2012

Variant appearance in text: rs219780

PubMed Link: 22396660

Variant Present in the following documents:

• Main text
• pgen.1002541.pdf

View BVdb publication page

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Genetic determinants of urolithiasis.

Nature Reviews. Nephrology

Monico, Carla G CG; Milliner, Dawn S DS

Publication Date: 2011-12-20

Variant appearance in text: CLDN14: T229T

PubMed Link: 22183508

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular genetic studies of gene identification for osteoporosis: the 2009 update.

Endocrine Reviews

Xu, Xiang-Hong XH; Dong, Shan-Shan SS; Guo, Yan Y; Yang, Tie-Lin TL; Lei, Shu-Feng SF; Papasian, Christopher J CJ; Zhao, Ming M; Deng, Hong-Wen HW

Publication Date: 2010-08

Variant appearance in text: rs219780

PubMed Link: 20357209

Variant Present in the following documents:

• Main text

View BVdb publication page

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