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: ACVRL1: 1120C>T; Arg374Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Distribution of Cerebrovascular Phenotypes According to Variants of the ENG and ACVRL1 Genes in Subjects with Hereditary Hemorrhagic Telangiectasia.

Journal Of Clinical Medicine

Gaetani, Eleonora E; Peppucci, Elisabetta E; Agostini, Fabiana F; Di Martino, Luigi L; Lucci Cordisco, Emanuela E; Sturiale, Carmelo L CL; Puca, Alfredo A; Porfidia, Angelo A; Alexandre, Andrea A; Pedicelli, Alessandro A; Pola, Roberto R

Publication Date: 2022-05-10

Variant appearance in text: ACVRL1: 1120C>T

PubMed Link: 35628811

Variant Present in the following documents:

• Main text
• jcm-11-02685.pdf

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TGF-β receptor mutations and clinical prognosis in Chinese pediatric patients with idiopathic/hereditary pulmonary arterial hypertension.

Pulmonary Circulation

Zhang, Xinyu X; Zhang, Chen C; Li, Qiangqiang Q; Gu, Hong H

Publication Date: 2022-04

Variant appearance in text: ACVRL1: 1120C>T; R374W

PubMed Link: 35514780

Variant Present in the following documents:

• PUL2-12-e12076-s001.pdf

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Clinical characteristics and prognosis analysis of idiopathic and hereditary pulmonary hypertension patients with ACVRL1 gene mutations.

Pulmonary Circulation

Zhang, Xinyu X; Zhang, Chen C; Li, Qiangqiang Q; Piao, Chunmei C; Zhang, Hongsheng H; Gu, Hong H

Publication Date: 2021

Variant appearance in text: ACVRL1: 1120C>T

PubMed Link: 34966542

Variant Present in the following documents:

• Main text
• 10.1177_20458940211044577.pdf
• sj-pdf-4-pul-10.1177_20458940211044577.pdf

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Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.

Bmc Medical Genomics

Kitayama, Kana K; Ishiguro, Tomoya T; Komiyama, Masaki M; Morisaki, Takayuki T; Morisaki, Hiroko H; Minase, Gaku G; Hamanaka, Kohei K; Miyatake, Satoko S; Matsumoto, Naomichi N; Kato, Masaru M; Takahashi, Toru T; Yorifuji, Tohru T

Publication Date: 2021-12-06

Variant appearance in text: ACVRL1: Arg374Trp

PubMed Link: 34872578

Variant Present in the following documents:

• Main text
• 12920_2021_1139_MOESM1_ESM.xlsx, sheet 2
• 12920_2021_Article_1139.pdf

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Current Status of Clinical and Genetic Screening of Hereditary Hemorrhagic Telangiectasia Families in Hungary.

Journal Of Clinical Medicine

Major, Tamás T; Bereczky, Zsuzsanna Z; Gindele, Réka R; Balogh, Gábor G; Rácz, Benedek B; Bora, László L; Kézsmárki, Zsolt Z; Brúgós, Boglárka B; Pfliegler, György G

Publication Date: 2021-08-24

Variant appearance in text: ACVRL1: 1120C>T

PubMed Link: 34501220

Variant Present in the following documents:

• Main text
• jcm-10-03774.pdf

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Founder Effects in Hereditary Hemorrhagic Telangiectasia.

Journal Of Clinical Medicine

Major, Tamás T; Gindele, Réka R; Balogh, Gábor G; Bárdossy, Péter P; Bereczky, Zsuzsanna Z

Publication Date: 2021-04-14

Variant appearance in text: ACVRL1: 1120C>T

PubMed Link: 33919892

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reduction of endoglin receptor impairs mononuclear cell-migration.

Exploration Of Medicine

Han, Zhenying Z; Shaligram, Sonali S; Faughnan, Marie E ME; Clark, Dewi D; Sun, Zhengda Z; Su, Hua H

Publication Date: 2020

Variant appearance in text: HHT: R374W

PubMed Link: 32954380

Variant Present in the following documents:

• Main text

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Differential Expression of Circulating Plasma miRNA-370 and miRNA-10a from Patients with Hereditary Hemorrhagic Telangiectasia.

Journal Of Clinical Medicine

Ruiz-Llorente, Lidia L; Albiñana, Virginia V; Botella, Luisa M LM; Bernabeu, Carmelo C

Publication Date: 2020-09-03

Variant appearance in text: HHT: 1120C>T

PubMed Link: 32899377

Variant Present in the following documents:

• Main text
• jcm-09-02855.pdf

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Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry.

Orphanet Journal Of Rare Diseases

Sánchez-Martínez, Rosario R; Iriarte, Adriana A; Mora-Luján, José María JM; Patier, José Luis JL; López-Wolf, Daniel D; Ojeda, Ana A; Torralba, Miguel Angel MA; Juyol, María Coloma MC; Gil, Ricardo R; Añón, Sol S; Salazar-Mendiguchía, Joel J; Riera-Mestre, Antoni A; ,

Publication Date: 2020-06-05

Variant appearance in text: ACVRL1: 1120C>T; Arg374Trp

PubMed Link: 32503579

Variant Present in the following documents:

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: ACVRL1: 1120C>T; R374W

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia.

Molecular Genetics & Genomic Medicine

Zhao, Yali Y; Zhang, Yuan Y; Wang, Xiangdong X; Zhang, Luo L

Publication Date: 2019-09

Variant appearance in text: ACVRL1: 1120C>T

PubMed Link: 31400083

Variant Present in the following documents:

• Main text
• MGG3-7-e893.pdf

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: ACVRL1: 1120C>T; Arg374Trp

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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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: ACVRL1: 1120C>T; Arg374Trp

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler's Disease, Uppsala University Hospital.

Upsala Journal Of Medical Sciences

Karlsson, Torbjörn T; Cherif, Honar H

Publication Date: 2018-09

Variant appearance in text: ACVRL1: 1120C>T

PubMed Link: 30251589

Variant Present in the following documents:

• Main text
• iups-123-1483452.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: HHT2: R374W; rs28936401

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Human Mutation

Machado, Rajiv D RD; Southgate, Laura L; Eichstaedt, Christina A CA; Aldred, Micheala A MA; Austin, Eric D ED; Best, D Hunter DH; Chung, Wendy K WK; Benjamin, Nicola N; Elliott, C Gregory CG; Eyries, Mélanie M; Fischer, Christine C; Gräf, Stefan S; Hinderhofer, Katrin K; Humbert, Marc M; Keiles, Steven B SB; Loyd, James E JE; Morrell, Nicholas W NW; Newman, John H JH; Soubrier, Florent F; Trembath, Richard C RC; Viales, Rebecca Rodríguez RR; Grünig, Ekkehard E

Publication Date: 2015-12

Variant appearance in text: ACVRL1: 1120C>T

PubMed Link: 26387786

Variant Present in the following documents:

• Main text

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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: ACVRL1: R374W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Long non-coding RNA expression profiles in hereditary haemorrhagic telangiectasia.

Plos One

Tørring, Pernille M PM; Larsen, Martin Jakob MJ; Kjeldsen, Anette D AD; Ousager, Lilian Bomme LB; Tan, Qihua Q; Brusgaard, Klaus K

Publication Date: 2014

Variant appearance in text: ACVRL1: Arg374Trp

PubMed Link: 24603890

Variant Present in the following documents:

• Main text
• pone.0090272.pdf

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Chaperones as thermodynamic sensors of drug-target interactions reveal kinase inhibitor specificities in living cells.

Nature Biotechnology

Taipale, Mikko M; Krykbaeva, Irina I; Whitesell, Luke L; Santagata, Sandro S; Zhang, Jianming J; Liu, Qingsong Q; Gray, Nathanael S NS; Lindquist, Susan S

Publication Date: 2013-07

Variant appearance in text: ACVRL1: R374W

PubMed Link: 23811600

Variant Present in the following documents:

• NIHMS484224-supplement-2.xlsx, sheet 2

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HHT diagnosis by Mid-infrared spectroscopy and artificial neural network analysis.

Orphanet Journal Of Rare Diseases

Lux, Andreas A; Müller, Ralf R; Tulk, Mark M; Olivieri, Carla C; Zarrabeita, Roberto R; Salonikios, Theresia T; Wirnitzer, Bernhard B

Publication Date: 2013-06-27

Variant appearance in text: HHT: 1120C>T

PubMed Link: 23805858

Variant Present in the following documents:

• Main text
• 1750-1172-8-94.pdf

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Functional analysis of saxophone, the Drosophila gene encoding the BMP type I receptor ortholog of human ALK1/ACVRL1 and ACVR1/ALK2.

Genetics

Twombly, Vern V; Bangi, Erdem E; Le, Viet V; Malnic, Bettina B; Singer, Matthew A MA; Wharton, Kristi A KA

Publication Date: 2009-10

Variant appearance in text: HHT2: R374W

PubMed Link: 19620392

Variant Present in the following documents:

• Main text

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Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique.

Bmc Medical Genetics

Sadick, Haneen H; Hage, Johanna J; Goessler, Ulrich U; Stern-Straeter, Jens J; Riedel, Frank F; Hoermann, Karl K; Bugert, Peter P

Publication Date: 2009-06-09

Variant appearance in text: HHT: 1120C>T

PubMed Link: 19508727

Variant Present in the following documents:

• Main text
• 1471-2350-10-53.pdf

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Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.

The Journal Of Molecular Diagnostics : Jmd

Gedge, Friederike F; McDonald, Jamie J; Phansalkar, Amit A; Chou, Lan-Szu LS; Calderon, Fernanda F; Mao, Rong R; Lyon, Elaine E; Bayrak-Toydemir, Pinar P

Publication Date: 2007-04

Variant appearance in text: ACVRL1: 1120C>T

PubMed Link: 17384219

Variant Present in the following documents:

• Main text

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Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.

Journal Of Medical Genetics

Prigoda, N L NL; Savas, S S; Abdalla, S A SA; Piovesan, B B; Rushlow, D D; Vandezande, K K; Zhang, E E; Ozcelik, H H; Gallie, B L BL; Letarte, M M

Publication Date: 2006-09

Variant appearance in text: ACVRL1: R374W

PubMed Link: 16690726

Variant Present in the following documents:

• Main text

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Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-beta signaling pathway.

Clinical Medicine & Research

Fernández-L, Africa A; Sanz-Rodriguez, Francisco F; Blanco, Francisco J FJ; Bernabéu, Carmelo C; Botella, Luisa M LM

Publication Date: 2006-03

Variant appearance in text: HHT: R374W

PubMed Link: 16595794

Variant Present in the following documents:

• Main text

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Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Journal Of Medical Genetics

Abdalla, S A SA; Letarte, M M

Publication Date: 2006-02

Variant appearance in text:

PubMed Link: 15879500

Variant Present in the following documents:

• Main text

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