Publications:

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Structural and Pathogenic Impacts of ABCA4 Variants in Retinal Degenerations-An In-Silico Study.

International Journal Of Molecular Sciences

Cevik, Senem S; Biswas, Subhasis B SB; Biswas-Fiss, Esther E EE

Publication Date: 2023-04-14

Variant appearance in text: ABCA4: D2177N

PubMed Link: 37108442

Variant Present in the following documents:

• Main text
• ijms-24-07280.pdf

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eIF2α incites photoreceptor cell and retina damage by all-trans-retinal.

The Journal Of Biological Chemistry

He, Danxue D; Tao, Lei L; Cai, Binxiang B; Chen, Xiangjun X; Wang, Yan Y; Li, Shiying S; Liao, Chunyan C; Chen, Yuling Y; Chen, Jingmeng J; Liu, Zuguo Z; Wu, Yalin Y

Publication Date: 2023-04-07

Variant appearance in text: ABCA4: D2177N

PubMed Link: 37031820

Variant Present in the following documents:

• main.pdf

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Genetic Aspects of Age-Related Macular Degeneration and Their Therapeutic Potential.

International Journal Of Molecular Sciences

Stradiotto, Elisa E; Allegrini, Davide D; Fossati, Giovanni G; Raimondi, Raffaele R; Sorrentino, Tania T; Tripepi, Domenico D; Barone, Gianmaria G; Inforzato, Antonio A; Romano, Mario R MR

Publication Date: 2022-10-31

Variant appearance in text: ABCA4: D2177N

PubMed Link: 36362067

Variant Present in the following documents:

• Main text
• ijms-23-13280.pdf

View BVdb publication page

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Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.

Scientific Reports

Falsini, Benedetto B; Placidi, Giorgio G; De Siena, Elisa E; Chiurazzi, Pietro P; Minnella, Angelo Maria AM; Savastano, Maria Cristina MC; Ziccardi, Lucia L; Parisi, Vincenzo V; Iarossi, Giancarlo G; Percio, Marcella M; Piteková, Barbora B; Marceddu, Giuseppe G; Maltese, Paolo Enrico PE; Bertelli, Matteo M

Publication Date: 2022-03-08

Variant appearance in text: ABCA4: D2177N

PubMed Link: 35260635

Variant Present in the following documents:

• 41598_2022_Article_7618.pdf

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EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence.

Elife

Gautheron, Jeremie J; Morisseau, Christophe C; Chung, Wendy K WK; Zammouri, Jamila J; Auclair, Martine M; Baujat, Genevieve G; Capel, Emilie E; Moulin, Celia C; Wang, Yuxin Y; Yang, Jun J; Hammock, Bruce D BD; Cerame, Barbara B; Phan, Franck F; Fève, Bruno B; Vigouroux, Corinne C; Andreelli, Fabrizio F; Jeru, Isabelle I

Publication Date: 2021-08-03

Variant appearance in text: ABCA4: 6529G>A; Asp2177Asn; rs1800555

PubMed Link: 34342583

Variant Present in the following documents:

• elife-68445-supp2.xlsx, sheet 1

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A novel statistical method for interpreting the pathogenicity of rare variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: ABCA4: D2177N

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

View BVdb publication page

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Rare Genetic Variants in Jewish Patients Suffering from Age-Related Macular Degeneration.

Genes

Shoshany, Nadav N; Weiner, Chen C; Safir, Margarita M; Einan-Lifshitz, Adi A; Pokroy, Russell R; Kol, Ayala A; Modai, Shira S; Shomron, Noam N; Pras, Eran E

Publication Date: 2019-10-18

Variant appearance in text: ABCA4: D2177N

PubMed Link: 31635417

Variant Present in the following documents:

• genes-10-00825.pdf

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: ABCA4: D2177N

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 41

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: ABCA4: 6529G>A; Asp2177Asn

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.

International Journal Of Molecular Sciences

Nassisi, Marco M; Mohand-Saïd, Saddek S; Dhaenens, Claire-Marie CM; Boyard, Fiona F; Démontant, Vanessa V; Andrieu, Camille C; Antonio, Aline A; Condroyer, Christel C; Foussard, Marine M; Méjécase, Cécile C; Eandi, Chiara Maria CM; Sahel, José-Alain JA; Zeitz, Christina C; Audo, Isabelle I

Publication Date: 2018-07-27

Variant appearance in text: ABCA4: 6529G>A

PubMed Link: 30060493

Variant Present in the following documents:

• Main text
• ijms-19-02196.pdf

View BVdb publication page

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Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.

The British Journal Of Ophthalmology

Fujinami, Kaoru K; Strauss, Rupert W RW; Chiang, John Pei-Wen JP; Audo, Isabelle S IS; Bernstein, Paul S PS; Birch, David G DG; Bomotti, Samantha M SM; Cideciyan, Artur V AV; Ervin, Ann-Margret AM; Marino, Meghan J MJ; Sahel, José-Alain JA; Mohand-Said, Saddek S; Sunness, Janet S JS; Traboulsi, Elias I EI; West, Sheila S; Wojciechowski, Robert R; Zrenner, Eberhart E; Michaelides, Michel M; Scholl, Hendrik P N HPN; , ; ,

Publication Date: 2019-03

Variant appearance in text: ABCR: 6529G>A

PubMed Link: 29925512

Variant Present in the following documents:

• bjophthalmol-2018-312064supp004.pdf
• bjophthalmol-2018-312064supp005.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: ABCA4: 6529G>A; Asp2177Asn

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Peripapillary sparing in RDH12-associated Leber congenital amaurosis.

Ophthalmic Genetics

Garg, Aakriti A; Lee, Winston W; Sengillo, Jesse D JD; Allikmets, Rando R; Garg, Kartik K; Tsang, Stephen H SH

Publication Date: 2017-12

Variant appearance in text: STGD1: D2177N

PubMed Link: 28513254

Variant Present in the following documents:

• Main text

View BVdb publication page

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A rare coding allele in IFIH1 is protective for psoriatic arthritis.

Annals Of The Rheumatic Diseases

Budu-Aggrey, Ashley A; Bowes, John J; Stuart, Philip E PE; Zawistowski, Matthew M; Tsoi, Lam C LC; Nair, Rajan R; Jadon, Deepak Rohit DR; McHugh, Neil N; Korendowych, Eleanor E; Elder, James T JT; Barton, Anne A; Raychaudhuri, Soumya S

Publication Date: 2017-07

Variant appearance in text: ABCA4: D2177N; rs1800555

PubMed Link: 28501801

Variant Present in the following documents:

• annrheumdis-2016-210592supp001.pdf

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: ABCA4: D2177N; rs1800555

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

View BVdb publication page

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Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

Investigative Ophthalmology & Visual Science

Schulz, Heidi L HL; Grassmann, Felix F; Kellner, Ulrich U; Spital, Georg G; Rüther, Klaus K; Jägle, Herbert H; Hufendiek, Karsten K; Rating, Philipp P; Huchzermeyer, Cord C; Baier, Maria J MJ; Weber, Bernhard H F BH; Stöhr, Heidi H

Publication Date: 2017-01-01

Variant appearance in text: ABCA4: 6529G>A; D2177N

PubMed Link: 28118664

Variant Present in the following documents:

• iovs-57-15-69_s04.pdf

View BVdb publication page

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Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology

Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R

Publication Date: 2016-11

Variant appearance in text: ABCA4: D2177N; rs1800555

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: ABCA4: D2177N; rs1800555

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

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Oxidative stress, innate immunity, and age-related macular degeneration.

Aims Molecular Science

Shaw, Peter X PX; Stiles, Travis T; Douglas, Christopher C; Ho, Daisy D; Fan, Wei W; Du, Hongjun H; Xiao, Xu X

Publication Date: 2016

Variant appearance in text: rs1800555

PubMed Link: 27239555

Variant Present in the following documents:

• Main text
• nihms786234.pdf

View BVdb publication page

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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: STGD1: D2177N; rs1800555

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Reduced macular function in ABCA4 carriers.

Molecular Vision

Kjellström, Ulrika U

Publication Date: 2015

Variant appearance in text: ABCA4: 6529G>A

PubMed Link: 26261413

Variant Present in the following documents:

• Main text
• mv-v21-767.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ABCA4: D2177N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, 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: ABCA4: D2177N; rs1800555

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Highly penetrant alleles in age-related macular degeneration.

Cold Spring Harbor Perspectives In Medicine

den Hollander, Anneke I AI; de Jong, Eiko K EK

Publication Date: 2014-11-06

Variant appearance in text: ABCA4: Asp2177Asn

PubMed Link: 25377141

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.

Investigative Ophthalmology & Visual Science

Alapati, Akhila A; Goetz, Kerry K; Suk, John J; Navani, Mili M; Al-Tarouti, Amani A; Jayasundera, Thiran T; Tumminia, Santa J SJ; Lee, Pauline P; Ayyagari, Radha R

Publication Date: 2014-07-31

Variant appearance in text: ABCA4: 6529G>A; rs1800555

PubMed Link: 25082885

Variant Present in the following documents:

• Main text

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: ABCA4: D2177N; rs1800555

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Impact of the common genetic associations of age-related macular degeneration upon systemic complement component C3d levels.

Plos One

Ristau, Tina T; Paun, Constantin C; Ersoy, Lebriz L; Hahn, Moritz M; Lechanteur, Yara Y; Hoyng, Carel C; de Jong, Eiko K EK; Daha, Mohamed R MR; Kirchhof, Bernd B; den Hollander, Anneke I AI; Fauser, Sascha S

Publication Date: 2014

Variant appearance in text: rs1800555

PubMed Link: 24675670

Variant Present in the following documents:

• Main text
• pone.0093459.pdf

View BVdb publication page

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ABCA4 gene screening by next-generation sequencing in a British cohort.

Investigative Ophthalmology & Visual Science

Fujinami, Kaoru K; Zernant, Jana J; Chana, Ravinder K RK; Wright, Genevieve A GA; Tsunoda, Kazushige K; Ozawa, Yoko Y; Tsubota, Kazuo K; Webster, Andrew R AR; Moore, Anthony T AT; Allikmets, Rando R; Michaelides, Michel M

Publication Date: 2013-10-11

Variant appearance in text: ABCA4: 6529G>A; D2177N; rs1800555

PubMed Link: 23982839

Variant Present in the following documents:

• Main text

View BVdb publication page

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Age-related macular degeneration-clinical review and genetics update.

Clinical Genetics

Ratnapriya, R R; Chew, E Y EY

Publication Date: 2013-08

Variant appearance in text: rs1800555

PubMed Link: 23713713

Variant Present in the following documents:

• Main text
• cge0084-0160.pdf

View BVdb publication page

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Genetic studies of age-related macular degeneration: lessons, challenges, and opportunities for disease management.

Ophthalmology

Priya, Rinki Ratna RR; Chew, Emily Y EY; Swaroop, Anand A

Publication Date: 2012-12

Variant appearance in text: rs1800555

PubMed Link: 23009893

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-generation genetic testing for retinitis pigmentosa.

Human Mutation

Neveling, Kornelia K; Collin, Rob W J RW; Gilissen, Christian C; van Huet, Ramon A C RA; Visser, Linda L; Kwint, Michael P MP; Gijsen, Sabine J SJ; Zonneveld, Marijke N MN; Wieskamp, Nienke N; de Ligt, Joep J; Siemiatkowska, Anna M AM; Hoefsloot, Lies H LH; Buckley, Michael F MF; Kellner, Ulrich U; Branham, Kari E KE; den Hollander, Anneke I AI; Hoischen, Alexander A; Hoyng, Carel C; Klevering, B Jeroen BJ; van den Born, L Ingeborgh LI; Veltman, Joris A JA; Cremers, Frans P M FP; Scheffer, Hans H

Publication Date: 2012-06

Variant appearance in text: ABCA4: 6529G>A

PubMed Link: 22334370

Variant Present in the following documents:

• humu0033-0963-sd1.pdf

View BVdb publication page

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Genetics of age-related macular degeneration: current concepts, future directions.

Seminars In Ophthalmology

Deangelis, Margaret M MM; Silveira, Alexandra C AC; Carr, Elizabeth A EA; Kim, Ivana K IK

Publication Date: 2011-05

Variant appearance in text: ABCA4: D2177N; rs1800555

PubMed Link: 21609220

Variant Present in the following documents:

• Main text

View BVdb publication page

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Age-related macular degeneration: genetic and environmental factors of disease.

Molecular Interventions

Chen, Yuhong Y; Bedell, Matthew M; Zhang, Kang K

Publication Date: 2010-10

Variant appearance in text: rs1800555

PubMed Link: 21045241

Variant Present in the following documents:

• Main text

View BVdb publication page

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Outcome of ABCA4 microarray screening in routine clinical practice.

Molecular Vision

Ernest, Paul J G PJ; Boon, Camiel J F CJ; Klevering, B Jeroen BJ; Hoefsloot, Lies H LH; Hoyng, Carel B CB

Publication Date: 2009-12-20

Variant appearance in text: ABCA4: 6529G>A

PubMed Link: 20029649

Variant Present in the following documents:

• Main text

View BVdb publication page

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Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.

The British Journal Of Ophthalmology

Riveiro-Alvarez, R R; Aguirre-Lamban, J J; Lopez-Martinez, M Angel MA; Trujillo-Tiebas, M Jose MJ; Cantalapiedra, D D; Vallespin, E E; Avila-Fernandez, A A; Ramos, C C; Ayuso, C C

Publication Date: 2009-10

Variant appearance in text: ABCA4: 6529G>A

PubMed Link: 18977788

Variant Present in the following documents:

• Main text
• BJ1-93-10-1359.pdf

View BVdb publication page

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Genetic factors of age-related macular degeneration.

Progress In Retinal And Eye Research

Tuo, Jingsheng J; Bojanowski, Christine M CM; Chan, Chi-Chao CC

Publication Date: 2004-03

Variant appearance in text: ABCA4: D2177N

PubMed Link: 15094132

Variant Present in the following documents:

• Main text

View BVdb publication page

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Simple and complex ABCR: genetic predisposition to retinal disease.

American Journal Of Human Genetics

Allikmets, R R

Publication Date: 2000-10

Variant appearance in text: ABCR: D2177N

PubMed Link: 10970771

Variant Present in the following documents:

• Main text

View BVdb publication page

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A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

American Journal Of Human Genetics

Rivera, A A; White, K K; Stöhr, H H; Steiner, K K; Hemmrich, N N; Grimm, T T; Jurklies, B B; Lorenz, B B; Scholl, H P HP; Apfelstedt-Sylla, E E; Weber, B H BH

Publication Date: 2000-10

Variant appearance in text: ABCA4: D2177N

PubMed Link: 10958763

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.

American Journal Of Human Genetics

Maugeri, A A; Klevering, B J BJ; Rohrschneider, K K; Blankenagel, A A; Brunner, H G HG; Deutman, A F AF; Hoyng, C B CB; Cremers, F P FP

Publication Date: 2000-10

Variant appearance in text: ABCA4: D2177N

PubMed Link: 10958761

Variant Present in the following documents:

• Main text

View BVdb publication page

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Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium.

American Journal Of Human Genetics

Allikmets, R R

Publication Date: 2000-08

Variant appearance in text: ABCR: D2177N

PubMed Link: 10880298

Variant Present in the following documents:

• Main text

View BVdb publication page

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