Publications:

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Genetic and molecular architecture of familial hypercholesterolemia.

Journal Of Internal Medicine

Abifadel, Marianne M; Boileau, Catherine C

Publication Date: 2022-10-04

Variant appearance in text: APOB: Gln4494del

PubMed Link: 36196022

Variant Present in the following documents:

• Main text
• JOIM-293-144.pdf

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Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel.

Genes

Rutkowska, Lena L; Sałacińska, Kinga K; Salachna, Dominik D; Matusik, Paweł P; Pinkier, Iwona I; Kępczyński, Łukasz Ł; Piotrowicz, Małgorzata M; Starostecka, Ewa E; Lewiński, Andrzej A; Gach, Agnieszka A

Publication Date: 2022-06-01

Variant appearance in text: APOB: Gln4494del

PubMed Link: 35741760

Variant Present in the following documents:

• genes-13-00999.pdf

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Case-finding and genetic testing for familial hypercholesterolaemia in primary care.

Heart (British Cardiac Society)

Qureshi, Nadeem N; Akyea, Ralph Kwame RK; Dutton, Brittany B; Humphries, Steve E SE; Abdul Hamid, Hasidah H; Condon, Laura L; Weng, Stephen F SF; Kai, Joe J; ,

Publication Date: 2021-12

Variant appearance in text: APOB: Gln4494del

PubMed Link: 34521694

Variant Present in the following documents:

• heartjnl-2021-319742supp001.pdf

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Protective lipid-lowering variants in healthy older individuals without coronary heart disease.

Open Heart

Lacaze, Paul P; Riaz, Moeen M; Sebra, Robert R; Hooper, Amanda J AJ; Pang, Jing J; Tiller, Jane J; Polekhina, Galina G; Tonkin, Andrew A; Reid, Chris C; Zoungas, Sophia S; Murray, Anne M AM; Nicholls, Stephen S; Watts, Gerald G; Schadt, Eric E; McNeil, John J JJ

Publication Date: 2021-07

Variant appearance in text: APOB: Gln4494del

PubMed Link: 34341098

Variant Present in the following documents:

• openhrt-2021-001710supp001.xlsx, sheet 1

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The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Genes

Meshkov, Alexey A; Ershova, Alexandra A; Kiseleva, Anna A; Zotova, Evgenia E; Sotnikova, Evgeniia E; Petukhova, Anna A; Zharikova, Anastasia A; Malyshev, Pavel P; Rozhkova, Tatyana T; Blokhina, Anastasia A; Limonova, Alena A; Ramensky, Vasily V; Divashuk, Mikhail M; Khasanova, Zukhra Z; Bukaeva, Anna A; Kurilova, Olga O; Skirko, Olga O; Pokrovskaya, Maria M; Mikova, Valeriya V; Snigir, Ekaterina E; Akinshina, Alexsandra A; Mitrofanov, Sergey S; Kashtanova, Daria D; Makarov, Valentin V; Kukharchuk, Valeriy V; Boytsov, Sergey S; Yudin, Sergey S; Drapkina, Oxana O

Publication Date: 2021-01-06

Variant appearance in text: APOB: 13480_13482del; Gln4494del

PubMed Link: 33418990

Variant Present in the following documents:

• Main text

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Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Biomedical Reports

Miroshnikova, Valentina V VV; Romanova, Olga V OV; Ivanova, Olga N ON; Fedyakov, Mikhail A MA; Panteleeva, Alexandra A AA; Barbitoff, Yury A YA; Muzalevskaya, Maria V MV; Urazgildeeva, Sorejya A SA; Gurevich, Victor S VS; Urazov, Stanislav P SP; Scherbak, Sergey G SG; Sarana, Andrey M AM; Semenova, Natalia A NA; Anisimova, Inga V IV; Guseva, Darya M DM; Pchelina, Sofya N SN; Glotov, Andrey S AS; Zakharova, Ekaterina Y EY; Glotov, Oleg S OS

Publication Date: 2021-01

Variant appearance in text: APOB: 13480_13482delCAG; Gln4494del

PubMed Link: 33269076

Variant Present in the following documents:

• Main text
• br-14-01-01391.pdf
• Supplementary_Data.pdf

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Genetics of Familial Hypercholesterolemia: New Insights.

Frontiers In Genetics

Vrablik, Michal M; Tichý, Lukas L; Freiberger, Tomas T; Blaha, Vladimir V; Satny, Martin M; Hubacek, Jaroslav A JA

Publication Date: 2020

Variant appearance in text: APOB: Gln4494del

PubMed Link: 33133164

Variant Present in the following documents:

• fgene-11-574474.pdf

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Cholesterol Efflux Efficiency of Reconstituted HDL Is Affected by Nanoparticle Lipid Composition.

Biomedicines

Jebari-Benslaiman, Shifa S; Uribe, Kepa B KB; Benito-Vicente, Asier A; Galicia-Garcia, Unai U; Larrea-Sebal, Asier A; Alloza, Iraide I; Vandenbroeck, Koen K; Ostolaza, Helena H; Martín, César C

Publication Date: 2020-09-23

Variant appearance in text: APOB: Gln4494del

PubMed Link: 32977626

Variant Present in the following documents:

• biomedicines-08-00373.pdf

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Preparation of a Functional Rat LDL Receptor Minigene.

International Journal Of Biomedical Investigation

Wooten, Catherine J CJ; Lopez, Dayami D

Publication Date: 2019

Variant appearance in text: APOB: Gln4494del

PubMed Link: 32368723

Variant Present in the following documents:

• nihms-1573559.pdf

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: APOB: 13480_13482delCAG; Gln4494del

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
• 12920_2020_669_MOESM1_ESM.xlsx, sheet 4

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

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

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: APOB: 13480_13482delCAG

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 1
• pnas.1909378117.sapp.pdf

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Multiple rare and common variants in APOB gene locus associated with oxidatively modified low-density lipoprotein levels.

Plos One

Khlebus, Eleonora E; Kutsenko, Vladimir V; Meshkov, Alexey A; Ershova, Alexandra A; Kiseleva, Anna A; Shevtsov, Anton A; Shcherbakova, Natalia N; Zharikova, Anastasiia A; Lankin, Vadim V; Tikhaze, Alla A; Chazova, Irina I; Yarovaya, Elena E; Drapkina, Oksana O; Boytsov, Sergey S

Publication Date: 2019

Variant appearance in text: APOB: Gln4494del

PubMed Link: 31150472

Variant Present in the following documents:

• pone.0217620.pdf

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Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.

International Journal Of Molecular Sciences

Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Galicia-Garcia, Unai U; Ostolaza, Helena H; Martin, Cesar C

Publication Date: 2018-06-05

Variant appearance in text: APOB: Gln4494del

PubMed Link: 29874871

Variant Present in the following documents:

• ijms-19-01676.pdf

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New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.

Scientific Reports

Elbitar, Sandy S; Susan-Resiga, Delia D; Ghaleb, Youmna Y; El Khoury, Petra P; Peloso, Gina G; Stitziel, Nathan N; Rabès, Jean-Pierre JP; Carreau, Valérie V; Hamelin, Josée J; Ben-Djoudi-Ouadda, Ali A; Bruckert, Eric E; Boileau, Catherine C; Seidah, Nabil G NG; Varret, Mathilde M; Abifadel, Marianne M

Publication Date: 2018-01-31

Variant appearance in text: APOB: Gln4494del

PubMed Link: 29386597

Variant Present in the following documents:

• Main text
• 41598_2018_Article_20281.pdf

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Genetic Architecture of Familial Hypercholesterolaemia.

Current Cardiology Reports

Sharifi, Mahtab M; Futema, Marta M; Nair, Devaki D; Humphries, Steve E SE

Publication Date: 2017-05

Variant appearance in text: APOB: Gln4494del

PubMed Link: 28405938

Variant Present in the following documents:

• Main text
• 11886_2017_Article_848.pdf

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Structural changes induced by acidic pH in human apolipoprotein B-100.

Scientific Reports

Fernández-Higuero, José A JA; Benito-Vicente, Asier A; Etxebarria, Aitor A; Milicua, José Carlos G JC; Ostolaza, Helena H; Arrondo, José L R JL; Martín, Cesar C

Publication Date: 2016-11-08

Variant appearance in text: APOB: Gln4494del

PubMed Link: 27824107

Variant Present in the following documents:

• srep36324.pdf

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Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity.

Scientific Reports

Fernández-Higuero, J A JA; Etxebarria, A A; Benito-Vicente, A A; Alves, A C AC; Arrondo, J L R JL; Ostolaza, H H; Bourbon, M M; Martin, C C

Publication Date: 2015-12-08

Variant appearance in text: APOB: 13480_13482delCAG; Gln4494del

PubMed Link: 26643808

Variant Present in the following documents:

• Main text
• srep18184.pdf

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Improving the cost-effectiveness equation of cascade testing for familial hypercholesterolaemia.

Current Opinion In Lipidology

Pears, Robert R; Griffin, Michael M; Futema, Marta M; Humphries, Steve E SE

Publication Date: 2015-06

Variant appearance in text: APOB: Gln4494del

PubMed Link: 25887683

Variant Present in the following documents:

• colip-26-162.pdf

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