Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: APOA1: 518G>C; Arg173Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Renal Amyloidosis Associated With 5 Novel Variants in the Fibrinogen A Alpha Chain Protein.

Kidney International Reports

Rowczenio, Dorota D; Stensland, Maria M; de Souza, Gustavo A GA; Strøm, Erik H EH; Gilbertson, Janet A JA; Taylor, Graham G; Rendell, Nigel N; Minogue, Shane S; Efebera, Yvonne A YA; Lachmann, Helen J HJ; Wechalekar, Ashutosh D AD; Hawkins, Philip N PN; Heimdal, Ketil R KR; Selvig, Kristian K; Lægreid, Inger K IK; Demoulin, Nathalie N; Aydin, Selda S; Gillmore, Julian D JD; Wien, Tale N TN

Publication Date: 2017-05

Variant appearance in text: APOA1: Arg173Pro

PubMed Link: 29142973

Variant Present in the following documents:

• main.pdf

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Apolipoprotein A-1-related amyloidosis 2 case reports and review of the literature.

Medicine

Lu, Chunlei C; Zuo, Ke K; Lu, Yinghui Y; Liang, Shaoshan S; Huang, Xianghua X; Zeng, Caihong C; Zhang, Jiong J; An, Yu Y; Wang, Jinquan J

Publication Date: 2017-09

Variant appearance in text: APOA1: Arg173Pro

PubMed Link: 28953655

Variant Present in the following documents:

• medi-96-e8148.pdf

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Diagnosis and treatment of high density lipoprotein deficiency.

Progress In Cardiovascular Diseases

Schaefer, Ernst J EJ; Anthanont, Pimjai P; Diffenderfer, Margaret R MR; Polisecki, Eliana E; Asztalos, Bela F BF

Publication Date: 2016

Variant appearance in text: APOA1: Arg173Pro

PubMed Link: 27565770

Variant Present in the following documents:

• Main text

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Structural and Functional Analysis of the ApolipoproteinA-I A164S Variant.

Plos One

Dalla-Riva, Jonathan J; Lagerstedt, Jens O JO; Petrlova, Jitka J

Publication Date: 2015

Variant appearance in text: APOA1: Arg173Pro

PubMed Link: 26605794

Variant Present in the following documents:

• pone.0143915.pdf

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Amyloidogenic propensity of a natural variant of human apolipoprotein A-I: stability and interaction with ligands.

Plos One

Rosú, Silvana A SA; Rimoldi, Omar J OJ; Prieto, Eduardo D ED; Curto, Lucrecia M LM; Delfino, José M JM; Ramella, Nahuel A NA; Tricerri, M Alejandra MA

Publication Date: 2015

Variant appearance in text: APOA1: Arg173Pro

PubMed Link: 25950566

Variant Present in the following documents:

• pone.0124946.pdf

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Human apolipoprotein A-I natural variants: molecular mechanisms underlying amyloidogenic propensity.

Plos One

Ramella, Nahuel A NA; Schinella, Guillermo R GR; Ferreira, Sergio T ST; Prieto, Eduardo D ED; Vela, María E ME; Ríos, José Luis JL; Tricerri, M Alejandra MA; Rimoldi, Omar J OJ

Publication Date: 2012

Variant appearance in text: APOA1: Arg173Pro

PubMed Link: 22952757

Variant Present in the following documents:

• pone.0043755.pdf

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Amyloidogenicity and clinical phenotype associated with five novel mutations in apolipoprotein A-I.

The American Journal Of Pathology

Rowczenio, Dorota D; Dogan, Ahmet A; Theis, Jason D JD; Vrana, Julie A JA; Lachmann, Helen J HJ; Wechalekar, Ashutosh D AD; Gilbertson, Janet A JA; Hunt, Toby T; Gibbs, Simon D J SD; Sattianayagam, Prayman T PT; Pinney, Jenny H JH; Hawkins, Philip N PN; Gillmore, Julian D JD

Publication Date: 2011-10

Variant appearance in text: APOA1: Arg173Pro

PubMed Link: 21820994

Variant Present in the following documents:

• Main text

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The impact of cellular networks on disease comorbidity.

Molecular Systems Biology

Park, Juyong J; Lee, Deok-Sun DS; Christakis, Nicholas A NA; Barabási, Albert-László AL

Publication Date: 2009

Variant appearance in text: APOA1: ARG173PRO

PubMed Link: 19357641

Variant Present in the following documents:

• msb200916-s1.pdf

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Hereditary apolipoprotein AI-associated amyloidosis in surgical pathology specimens: identification of three novel mutations in the APOA1 gene.

The Journal Of Molecular Diagnostics : Jmd

Eriksson, Magdalena M; Schönland, Stefan S; Yumlu, Saniye S; Hegenbart, Ute U; von Hutten, Hanna H; Gioeva, Zarina Z; Lohse, Peter P; Büttner, Janine J; Schmidt, Hartmut H; Röcken, Christoph C

Publication Date: 2009-05

Variant appearance in text: APOA1: Arg173Pro

PubMed Link: 19324996

Variant Present in the following documents:

• Main text

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