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: MATN3: 656C>A; Ala219Asp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Somatic alterations and mutational burden are potential predictive factors for metachronous development of early gastric cancer.

Scientific Reports

Sakuta, Kazuhiro K; Sasaki, Yu Y; Abe, Yasuhiko Y; Sato, Hidenori H; Shoji, Masakuni M; Yaoita, Takao T; Yagi, Makoto M; Mizumoto, Naoko N; Onozato, Yusuke Y; Kon, Takashi T; Koseki, Ayumi A; Sato, Sonoko S; Murakami, Ryoko R; Miyano, Yuki Y; Ueno, Yoshiyuki Y

Publication Date: 2020-12-16

Variant appearance in text: MATN3: A219D; rs28939677

PubMed Link: 33328548

Variant Present in the following documents:

• 41598_2020_79195_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report.

Bmc Musculoskeletal Disorders

Ho, Thuong Thi TT; Tran, Linh Huyen LH; Hoang, Lan Thu LT; Doan, Phuong Kim Thi PKT; Nguyen, Trang Thi TT; Nguyen, Trang Hong TH; Tran, Hoai Thu HT; Hoang, Ha H; Chu, Ha Hoang HH; Luong, Anh Lan Thi ALT

Publication Date: 2020-04-07

Variant appearance in text: MATN3: A219D

PubMed Link: 32264862

Variant Present in the following documents:

• Main text
• 12891_2020_Article_3222.pdf

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: MATN3: A219D

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

View BVdb publication page

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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: MATN3: A219D; rs28939677

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: MATN3: A219D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.

Human Mutation

Jackson, Gail C GC; Mittaz-Crettol, Laureane L; Taylor, Jacqueline A JA; Mortier, Geert R GR; Spranger, Juergen J; Zabel, Bernhard B; Le Merrer, Martine M; Cormier-Daire, Valerie V; Hall, Christine M CM; Offiah, Amaka A; Wright, Michael J MJ; Savarirayan, Ravi R; Nishimura, Gen G; Ramsden, Simon C SC; Elles, Rob R; Bonafe, Luisa L; Superti-Furga, Andrea A; Unger, Sheila S; Zankl, Andreas A; Briggs, Michael D MD

Publication Date: 2012-01

Variant appearance in text: MATN3: 656C>A; Ala219Asp

PubMed Link: 21922596

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multiple functions of the von Willebrand Factor A domain in matrilins: secretion, assembly, and proteolysis.

Journal Of Orthopaedic Surgery And Research

Zhang, Yue Y; Wang, Zheng-Ke ZK; Luo, Jun-Ming JM; Kanbe, Katsuaki K; Chen, Qian Q

Publication Date: 2008-06-02

Variant appearance in text: MATN3: A219D

PubMed Link: 18518980

Variant Present in the following documents:

• Main text
• 1749-799X-3-21.pdf

View BVdb publication page

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Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3.

Human Mutation

Cotterill, Sally L SL; Jackson, Gail C GC; Leighton, Matthew P MP; Wagener, Raimund R; Mäkitie, Outi O; Cole, William G WG; Briggs, Michael D MD

Publication Date: 2005-12

Variant appearance in text: MATN3: 656C>A; Ala219Asp

PubMed Link: 16287128

Variant Present in the following documents:

• Main text
• humu0026-0557.pdf

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COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

European Journal Of Human Genetics : Ejhg

Kennedy, Jason J; Jackson, Gail G; Ramsden, Simon S; Taylor, Jacky J; Newman, William W; Wright, Michael J MJ; Donnai, Dian D; Elles, Rob R; Briggs, Michael D MD

Publication Date: 2005-05

Variant appearance in text: MATN3: A219D

PubMed Link: 15756302

Variant Present in the following documents:

• Main text

View BVdb publication page

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