Publications:

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Regulation of phospholipid distribution in the lipid bilayer by flippases and scramblases.

Nature Reviews. Molecular Cell Biology

Sakuragi, Takaharu T; Nagata, Shigekazu S

Publication Date: 2023-04-27

Variant appearance in text: TMEM16E: S555I

PubMed Link: 37106071

Variant Present in the following documents:

• 41580_2023_604_MOESM1_ESM.pdf

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Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.

Plos One

Babić Božović, Ivana I; Maver, Aleš A; Leonardis, Lea L; Meznaric, Marija M; Osredkar, Damjan D; Peterlin, Borut B

Publication Date: 2021

Variant appearance in text: ANO5: 1664G>T; Ser555Ile

PubMed Link: 34106991

Variant Present in the following documents:

• Main text
• pone.0252953.pdf

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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

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

Töpf, Ana A; Johnson, Katherine K; Bates, Adam A; Phillips, Lauren L; Chao, Katherine R KR; England, Eleina M EM; Laricchia, Kristen M KM; Mullen, Thomas T; Valkanas, Elise E; Xu, Liwen L; Bertoli, Marta M; Blain, Alison A; Casasús, Ana B AB; Duff, Jennifer J; Mroczek, Magdalena M; Specht, Sabine S; Lek, Monkol M; Ensini, Monica M; MacArthur, Daniel G DG; , ; Straub, Volker V

Publication Date: 2020-09

Variant appearance in text: ANO5: 1664G>T; S555I

PubMed Link: 32528171

Variant Present in the following documents:

• 41436_2020_840_MOESM10_ESM.xlsx, sheet 1

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ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure.

Scientific Reports

Jarmula, Adam A; Łusakowska, Anna A; Fichna, Jakub P JP; Topolewska, Malgorzata M; Macias, Anna A; Johnson, Katherine K; Töpf, Ana A; Straub, Volker V; Rosiak, Edyta E; Szczepaniak, Krzysztof K; Dunin-Horkawicz, Stanisław S; Maruszak, Aleksandra A; Kaminska, Anna M AM; Redowicz, Maria Jolanta MJ

Publication Date: 2019-08-08

Variant appearance in text: ANO5: 1664G>T

PubMed Link: 31395899

Variant Present in the following documents:

• Main text

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Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells.

Cell Death Discovery

Chandra, Goutam G; Defour, Aurelia A; Mamchoui, Kamel K; Pandey, Kalpana K; Mishra, Soumya S; Mouly, Vincent V; Sreetama, SenChandra S; Mahad Ahmad, Mohammad M; Mahjneh, Ibrahim I; Morizono, Hiroki H; Pattabiraman, Nagarajan N; Menon, Anant K AK; Jaiswal, Jyoti K JK

Publication Date: 2019

Variant appearance in text: ANO5: S555I

PubMed Link: 31341644

Variant Present in the following documents:

• Main text
• 41420_2019_Article_197.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: ANO5: S555I

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

Neuromuscular Disorders : Nmd

Savarese, Marco M; Di Fruscio, Giuseppina G; Tasca, Giorgio G; Ruggiero, Lucia L; Janssens, Sandra S; De Bleecker, Jan J; Delpech, Marc M; Musumeci, Olimpia O; Toscano, Antonio A; Angelini, Corrado C; Sacconi, Sabrina S; Santoro, Lucio L; Ricci, Enzo E; Claes, Kathleen K; Politano, Luisa L; Nigro, Vincenzo V

Publication Date: 2015-07

Variant appearance in text: ANO5: 1664G>T; S555I; rs375014127

PubMed Link: 25891276

Variant Present in the following documents:

• Main text
• mmc3.xls, sheet 1

View BVdb publication page

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