Publications:

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The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.

Pnas Nexus

Peter, Virginie G VG; Kaminska, Karolina K; Santos, Cristina C; Quinodoz, Mathieu M; Cancellieri, Francesca F; Cisarova, Katarina K; Pescini Gobert, Rosanna R; Rodrigues, Raquel R; Custódio, Sónia S; Paris, Liliana P LP; Sousa, Ana Berta AB; Coutinho Santos, Luisa L; Rivolta, Carlo C

Publication Date: 2023-03

Variant appearance in text: CERKL: 769C>T

PubMed Link: 36909829

Variant Present in the following documents:

• pgad043.pdf

View BVdb publication page

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De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Investigative Ophthalmology & Visual Science

Li, Wei W; He, Xiang-Dong XD; Yang, Zheng-Tao ZT; Han, Dong-Ming DM; Sun, Yan Y; Chen, Yan-Xian YX; Han, Xiao-Tong XT; Guo, Si-Cheng SC; Ma, Yu-Ting YT; Jin, Xin X; Yang, Huan-Ming HM; Gao, Ya Y; Wang, Zhuo-Shi ZS; Li, Jian-Kang JK; He, Wei W

Publication Date: 2023-02-01

Variant appearance in text: rs121909398

PubMed Link: 36729443

Variant Present in the following documents:

• iovs-64-2-5_s003.xlsx, sheet 1

View BVdb publication page

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Genetics of Inherited Retinal Diseases in Understudied Populations.

Frontiers In Genetics

Kannabiran, Chitra C; Parameswarappa, Deepika D; Jalali, Subhadra S

Publication Date: 2022

Variant appearance in text: CERKL: Arg257Ter

PubMed Link: 35295952

Variant Present in the following documents:

• Main text
• fgene-13-858556.pdf

View BVdb publication page

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Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Investigative Ophthalmology & Visual Science

Del Pozo-Valero, Marta M; Riveiro-Alvarez, Rosa R; Martin-Merida, Inmaculada I; Blanco-Kelly, Fiona F; Swafiri, Saoud S; Lorda-Sanchez, Isabel I; Trujillo-Tiebas, Maria José MJ; Carreño, Ester E; Jimenez-Rolando, Belen B; Garcia-Sandoval, Blanca B; Corton, Marta M; Avila-Fernandez, Almudena A; Ayuso, Carmen C

Publication Date: 2022-02-01

Variant appearance in text: CERKL: 769C>T

PubMed Link: 35119454

Variant Present in the following documents:

• iovs-63-2-11_s003.pdf

View BVdb publication page

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Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Investigative Ophthalmology & Visual Science

Del Pozo-Valero, Marta M; Riveiro-Alvarez, Rosa R; Martin-Merida, Inmaculada I; Blanco-Kelly, Fiona F; Swafiri, Saoud S; Lorda-Sanchez, Isabel I; Trujillo-Tiebas, Maria José MJ; Carreño, Ester E; Jimenez-Rolando, Belen B; Garcia-Sandoval, Blanca B; Corton, Marta M; Avila-Fernandez, Almudena A; Ayuso, Carmen C

Publication Date: 2022-02-01

Variant appearance in text: CERKL: 769C>T

PubMed Link: 35119454

Variant Present in the following documents:

• iovs-63-2-11_s003.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: CERKL: R257X; rs121909398

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.

Plos Genetics

Biswas, Pooja P; Villanueva, Adda L AL; Soto-Hermida, Angel A; Duncan, Jacque L JL; Matsui, Hiroko H; Borooah, Shyamanga S; Kurmanov, Berzhan B; Richard, Gabriele G; Khan, Shahid Y SY; Branham, Kari K; Huang, Bonnie B; Suk, John J; Bakall, Benjamin B; Goldberg, Jeffrey L JL; Gabriel, Luis L; Khan, Naheed W NW; Raghavendra, Pongali B PB; Zhou, Jason J; Devalaraja, Sindhu S; Huynh, Andrew A; Alapati, Akhila A; Zawaydeh, Qais Q; Weleber, Richard G RG; Heckenlively, John R JR; Hejtmancik, J Fielding JF; Riazuddin, Sheikh S; Sieving, Paul A PA; Riazuddin, S Amer SA; Frazer, Kelly A KA; Ayyagari, Radha R

Publication Date: 2021-10

Variant appearance in text: CERKL: 769C>T; Arg257*; rs121909398

PubMed Link: 34662339

Variant Present in the following documents:

• Main text
• pgen.1009848.pdf

View BVdb publication page

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Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies.

Genes

Azab, Bilal B; Dardas, Zain Z; Aburizeg, Dunia D; Al-Bdour, Muawyah M; Abu-Ameerh, Mohammed M; Saleh, Tareq T; Barham, Raghda R; Maswadi, Ranad R; Ababneh, Nidaa A NA; Alsalem, Mohammad M; Zouk, Hana H; Amr, Sami S; Awidi, Abdalla A

Publication Date: 2021-04-19

Variant appearance in text: rs121909398

PubMed Link: 33921607

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.

Investigative Ophthalmology & Visual Science

Colombo, Leonardo L; Maltese, Paolo E PE; Castori, Marco M; El Shamieh, Said S; Zeitz, Christina C; Audo, Isabelle I; Zulian, Alessandra A; Marinelli, Carla C; Benedetti, Sabrina S; Costantini, Alisia A; Bressan, Simone S; Percio, Marcella M; Ferri, Paolo P; Abeshi, Andi A; Bertelli, Matteo M; Rossetti, Luca L

Publication Date: 2021-02-01

Variant appearance in text: CERKL: 769C>T; Arg257*; rs121909398

PubMed Link: 33576794

Variant Present in the following documents:

• iovs-62-2-13_s001.xlsx, sheet 4
• iovs-62-2-13_s001.xlsx, sheet 8

View BVdb publication page

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: CERKL: R257X

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families.

Human Genome Variation

Nadeem, Raheela R; Kabir, Firoz F; Li, Jiali J; Gradstein, Libe L; Jiao, Xiaodong X; Rauf, Bushra B; Naeem, Muhammad Asif MA; Assir, Muhammad Zaman MZ; Riazuddin, Sheikh S; Ayyagari, Radha R; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2020

Variant appearance in text: CERKL: 769C>T

PubMed Link: 32411380

Variant Present in the following documents:

• Main text
• 41439_2020_Article_100.pdf

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: CERKL: 769C>T; R257*

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: rs121909398

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: rs121909398

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Multimodal structural disease progression of retinitis pigmentosa according to mode of inheritance.

Scientific Reports

Jauregui, Ruben R; Takahashi, Vitor K L VKL; Park, Karen Sophia KS; Cui, Xuan X; Takiuti, Julia T JT; Lima de Carvalho, Jose Ronaldo JR; Tsang, Stephen H SH

Publication Date: 2019-07-24

Variant appearance in text: CERKL: 769C>T; R257*

PubMed Link: 31341231

Variant Present in the following documents:

• 41598_2019_47251_MOESM1_ESM.pdf

View BVdb publication page

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Hyperautofluorescent Dots are Characteristic in Ceramide Kinase Like-associated Retinal Degeneration.

Scientific Reports

Sengillo, Jesse D JD; Cho, Galaxy Y GY; Paavo, Maarjaliis M; Lee, Winston W; White, Eugenia E; Jauregui, Ruben R; Sparrow, Janet R JR; Allikmets, Rando R; Tsang, Stephen H SH

Publication Date: 2019-01-29

Variant appearance in text: CERKL: 769C>T

PubMed Link: 30696906

Variant Present in the following documents:

• Main text
• 41598_2018_Article_37578.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: CERKL: R257X

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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SAGE: a comprehensive resource of genetic variants integrating South Asian whole genomes and exomes.

Database : The Journal Of Biological Databases And Curation

Hariprakash, Judith Mary JM; Vellarikkal, Shamsudheen Karuthedath SK; Verma, Ankit A; Ranawat, Anop Singh AS; Jayarajan, Rijith R; Ravi, Rowmika R; Kumar, Anoop A; Dixit, Vishal V; Sivadas, Ambily A; Kashyap, Atul Kumar AK; Senthivel, Vigneshwar V; Sehgal, Paras P; Mahadevan, Vijayalakshmi V; Scaria, Vinod V; Sivasubbu, Sridhar S

Publication Date: 2018-01-01

Variant appearance in text: rs121909398

PubMed Link: 30184194

Variant Present in the following documents:

• Main text
• bay080.pdf

View BVdb publication page

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Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.

Bmc Ophthalmology

Wang, Xinjing X; Zein, Wadih M WM; D'Souza, Leera L; Roberson, Chimere C; Wetherby, Keith K; He, Hong H; Villarta, Angela A; Turriff, Amy A; Johnson, Kory R KR; Fann, Yang C YC

Publication Date: 2017-08-24

Variant appearance in text: rs121909398

PubMed Link: 28838317

Variant Present in the following documents:

• Main text
• 12886_2017_Article_549.pdf

View BVdb publication page

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Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.

Scientific Reports

Bravo-Gil, Nereida N; González-Del Pozo, María M; Martín-Sánchez, Marta M; Méndez-Vidal, Cristina C; Rodríguez-de la Rúa, Enrique E; Borrego, Salud S; Antiñolo, Guillermo G

Publication Date: 2017-02-03

Variant appearance in text: CERKL: 769C>T; R257*

PubMed Link: 28157192

Variant Present in the following documents:

• Main text
• srep41937.pdf

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: CERKL: 769C>T; R257*; rs121909398

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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NGF eye-drops topical administration in patients with retinitis pigmentosa, a pilot study.

Journal Of Translational Medicine

Falsini, Benedetto B; Iarossi, Giancarlo G; Chiaretti, Antonio A; Ruggiero, Antonio A; Manni, Luigi L; Luigi, Manni M; Galli-Resta, Lucia L; Corbo, Giovanni G; Abed, Edoardo E

Publication Date: 2016-01-09

Variant appearance in text: CERKL: R257X

PubMed Link: 26748988

Variant Present in the following documents:

• Main text
• 12967_2015_Article_750.pdf

View BVdb publication page

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Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.

Bmc Genetics

Méndez-Vidal, Cristina C; Bravo-Gil, Nereida N; González-Del Pozo, María M; Vela-Boza, Alicia A; Dopazo, Joaquín J; Borrego, Salud S; Antiñolo, Guillermo G

Publication Date: 2014-12-14

Variant appearance in text: CERKL: Arg257*

PubMed Link: 25494902

Variant Present in the following documents:

• Main text
• 12863_2014_Article_143.pdf

View BVdb publication page

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Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.

Human Mutation

Rodriguez-Flores, Juan L JL; Fakhro, Khalid K; Hackett, Neil R NR; Salit, Jacqueline J; Fuller, Jennifer J; Agosto-Perez, Francisco F; Gharbiah, Maey M; Malek, Joel A JA; Zirie, Mahmoud M; Jayyousi, Amin A; Badii, Ramin R; Al-Nabet Al-Marri, Ajayeb A; Chouchane, Lotfi L; Stadler, Dora J DJ; Mezey, Jason G JG; Crystal, Ronald G RG

Publication Date: 2014-01

Variant appearance in text: CERKL: Arg257Ter; rs121909398

PubMed Link: 24123366

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.

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

Nishiguchi, Koji M KM; Tearle, Richard G RG; Liu, Yangfan P YP; Oh, Edwin C EC; Miyake, Noriko N; Benaglio, Paola P; Harper, Shyana S; Koskiniemi-Kuendig, Hanna H; Venturini, Giulia G; Sharon, Dror D; Koenekoop, Robert K RK; Nakamura, Makoto M; Kondo, Mineo M; Ueno, Shinji S; Yasuma, Tetsuhiro R TR; Beckmann, Jacques S JS; Ikegawa, Shiro S; Matsumoto, Naomichi N; Terasaki, Hiroko H; Berson, Eliot L EL; Katsanis, Nicholas N; Rivolta, Carlo C

Publication Date: 2013-10-01

Variant appearance in text: CERKL: R257X

PubMed Link: 24043777

Variant Present in the following documents:

• Main text

View BVdb publication page

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Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

Ophthalmology

Riveiro-Alvarez, Rosa R; Lopez-Martinez, Miguel-Angel MA; Zernant, Jana J; Aguirre-Lamban, Jana J; Cantalapiedra, Diego D; Avila-Fernandez, Almudena A; Gimenez, Ascension A; Lopez-Molina, Maria-Isabel MI; Garcia-Sandoval, Blanca B; Blanco-Kelly, Fiona F; Corton, Marta M; Tatu, Sorina S; Fernandez-San Jose, Patricia P; Trujillo-Tiebas, Maria-Jose MJ; Ramos, Carmen C; Allikmets, Rando R; Ayuso, Carmen C

Publication Date: 2013-11

Variant appearance in text: CERKL: Arg257*

PubMed Link: 23755871

Variant Present in the following documents:

• Main text

View BVdb publication page

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CERKL knockdown causes retinal degeneration in zebrafish.

Plos One

Riera, Marina M; Burguera, Demian D; Garcia-Fernàndez, Jordi J; Gonzàlez-Duarte, Roser R

Publication Date: 2013

Variant appearance in text: CERKL: R257X

PubMed Link: 23671706

Variant Present in the following documents:

• Main text

View BVdb publication page

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Specific sphingolipid content decrease in Cerkl knockdown mouse retinas.

Experimental Eye Research

Garanto, Alejandro A; Mandal, Nawajes A NA; Egido-Gabás, Meritxell M; Marfany, Gemma G; Fabriàs, Gemma G; Anderson, Robert E RE; Casas, Josefina J; Gonzàlez-Duarte, Roser R

Publication Date: 2013-05

Variant appearance in text: CERKL: R257X

PubMed Link: 23501591

Variant Present in the following documents:

• Main text

View BVdb publication page

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Expression and localization of CERKL in the mammalian retina, its response to light-stress, and relationship with NeuroD1 gene.

Experimental Eye Research

Mandal, Nawajes A NA; Tran, Julie-Thu A JT; Saadi, Anisse A; Rahman, Abul K AK; Huynh, Tuan-Phat TP; Klein, William H WH; Cho, Jang-Hyeon JH

Publication Date: 2013-01

Variant appearance in text: CERKL: R257X

PubMed Link: 23142158

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.

Plos One

González-del Pozo, María M; Borrego, Salud S; Barragán, Isabel I; Pieras, Juan I JI; Santoyo, Javier J; Matamala, Nerea N; Naranjo, Belén B; Dopazo, Joaquín J; Antiñolo, Guillermo G

Publication Date: 2011

Variant appearance in text: CERKL: 769C>T; R257X

PubMed Link: 22164218

Variant Present in the following documents:

• Main text
• pone.0027894.pdf

View BVdb publication page

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Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

Molecular Vision

Ávila-Fernández, Almudena A; Cantalapiedra, Diego D; Aller, Elena E; Vallespín, Elena E; Aguirre-Lambán, Jana J; Blanco-Kelly, Fiona F; Corton, M M; Riveiro-Álvarez, Rosa R; Allikmets, Rando R; Trujillo-Tiebas, María José MJ; Millán, José M JM; Cremers, Frans P M FP; Ayuso, Carmen C

Publication Date: 2010-12-03

Variant appearance in text: CERKL: 769C>T

PubMed Link: 21151602

Variant Present in the following documents:

• Main text

View BVdb publication page

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Overexpression of CERKL, a gene responsible for retinitis pigmentosa in humans, protects cells from apoptosis induced by oxidative stress.

Molecular Vision

Tuson, Miquel M; Garanto, Alejandro A; Gonzàlez-Duarte, Roser R; Marfany, Gemma G

Publication Date: 2009

Variant appearance in text: CERKL: R257X

PubMed Link: 19158957

Variant Present in the following documents:

• Main text

View BVdb publication page

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A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.

Molecular Vision

Ali, Manir M; Ramprasad, Vedam Lakshmi VL; Soumittra, Nagasamy N; Mohamed, Moin D MD; Jafri, Hussain H; Rashid, Yasmin Y; Danciger, Michael M; McKibbin, Martin M; Kumaramanickavel, Govindasamy G; Inglehearn, Chris F CF

Publication Date: 2008

Variant appearance in text: CERKL: R257X

PubMed Link: 18978954

Variant Present in the following documents:

• Main text
• mv-v14-1960.pdf

View BVdb publication page

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Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

American Journal Of Human Genetics

Tuson, Miquel M; Marfany, Gemma G; Gonzàlez-Duarte, Roser R

Publication Date: 2004-01

Variant appearance in text: RP26: R257X

PubMed Link: 14681825

Variant Present in the following documents:

• Main text

View BVdb publication page

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