Publications:

Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.

Investigative Ophthalmology & Visual Science

Pfister, Tyler A TA; Zein, Wadih M WM; Cukras, Catherine A CA; Sen, Hatice N HN; Maldonado, Ramiro S RS; Huryn, Laryssa A LA; Hufnagel, Robert B RB

Publication Date: 2021-05-03

Variant appearance in text: BEST1: Pro297Ala

PubMed Link: 34015078

Variant Present in the following documents:

• iovs-62-6-22_s002.pdf

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Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four Cases.

Journal Of Ophthalmology

Khojasteh, Hassan H; Azarmina, Mohsen M; Ebrahimiadib, Nazanin N; Daftarian, Narsis N; Riazi-Esfahani, Hamid H; Naraghi, Houra H; Sabbaghi, Hamideh H; Khodabande, Alireza A; Faghihi, Hooshang H; Moghaddasi, Afrooz A; Bazvand, Fatemeh F; Manaviat, Masoud Reza MR; Ahmadieh, Hamid H; Hassanpoor, Narges N; Suri, Fatemeh F

Publication Date: 2021

Variant appearance in text: rs1805143

PubMed Link: 34012682

Variant Present in the following documents:

• Main text

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Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.

International Journal Of Molecular Sciences

Nachtigal, Anna-Lena AL; Milenkovic, Andrea A; Brandl, Caroline C; Schulz, Heidi L HL; Duerr, Lisa M J LMJ; Lang, Gabriele E GE; Reiff, Charlotte C; Herrmann, Philipp P; Kellner, Ulrich U; Weber, Bernhard H F BHF

Publication Date: 2020-02-26

Variant appearance in text: BEST1: 889C>G

PubMed Link: 32111077

Variant Present in the following documents:

• ijms-21-01597-s001.pdf

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Dual Ca2+-dependent gates in human Bestrophin1 underlie disease-causing mechanisms of gain-of-function mutations.

Communications Biology

Ji, Changyi C; Kittredge, Alec A; Hopiavuori, Austin A; Ward, Nancy N; Chen, Shoudeng S; Fukuda, Yohta Y; Zhang, Yu Y; Yang, Tingting T

Publication Date: 2019

Variant appearance in text: BEST1: P297A

PubMed Link: 31263784

Variant Present in the following documents:

• Main text
• 42003_2019_Article_433.pdf

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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: VMD2: P297A; rs1805143

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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