Publications:

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Integrative proteogenomic characterization of hepatocellular carcinoma across etiologies and stages.

Nature Communications

Ng, Charlotte K Y CKY; Dazert, Eva E; Boldanova, Tuyana T; Coto-Llerena, Mairene M; Nuciforo, Sandro S; Ercan, Caner C; Suslov, Aleksei A; Meier, Marie-Anne MA; Bock, Thomas T; Schmidt, Alexander A; Ketterer, Sylvia S; Wang, Xueya X; Wieland, Stefan S; Matter, Matthias S MS; Colombi, Marco M; Piscuoglio, Salvatore S; Terracciano, Luigi M LM; Hall, Michael N MN; Heim, Markus H MH

Publication Date: 2022-05-04

Variant appearance in text: FLNB: 703T>C; Ser235Pro; rs121908896

PubMed Link: 35508466

Variant Present in the following documents:

• 41467_2022_29960_MOESM12_ESM.xlsx, sheet 1

View BVdb publication page

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Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach.

Molecules (Basel, Switzerland)

S, Udhaya Kumar UK; Sankar, Srivarshini S; Younes, Salma S; D, Thirumal Kumar TK; Ahmad, Muneera Naseer MN; Okashah, Sarah Samer SS; Kamaraj, Balu B; Al-Subaie, Abeer Mohammed AM; C, George Priya Doss GPD; Zayed, Hatem H

Publication Date: 2020-11-26

Variant appearance in text: FLNB: 703T>C; S235P

PubMed Link: 33255942

Variant Present in the following documents:

• Main text
• molecules-25-05543.pdf

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: FLNB: S235P

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: FLNB: 703T>C; Ser235Pro

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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Hepatocellular Carcinoma Xenografts Established From Needle Biopsies Preserve the Characteristics of the Originating Tumors.

Hepatology Communications

Blumer, Tanja T; Fofana, Isabel I; Matter, Matthias S MS; Wang, Xueya X; Montazeri, Hesam H; Calabrese, Diego D; Coto-Llerena, Mairene M; Boldanova, Tujana T; Nuciforo, Sandro S; Kancherla, Venkatesh V; Tornillo, Luigi L; Piscuoglio, Salvatore S; Wieland, Stefan S; Terracciano, Luigi M LM; Ng, Charlotte K Y CKY; Heim, Markus H MH

Publication Date: 2019-07

Variant appearance in text: FLNB: 703T>C; Ser235Pro

PubMed Link: 31334445

Variant Present in the following documents:

• HEP4-3-971-s003.xlsx, sheet 1

View BVdb publication page

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Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.

Bmc Medical Genetics

Girisha, Katta Mohan KM; Bidchol, Abdul Mueed AM; Graul-Neumann, Luitgard L; Gupta, Ashish A; Hehr, Ute U; Lessel, Davor D; Nader, Sean S; Shah, Hitesh H; Wickert, Julia J; Kutsche, Kerstin K

Publication Date: 2016-04-06

Variant appearance in text: FLNB: Ser235Pro

PubMed Link: 27048506

Variant Present in the following documents:

• Main text
• 12881_2016_Article_290.pdf

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F-actin clustering and cell dysmotility induced by the pathological W148R missense mutation of filamin B at the actin-binding domain.

American Journal Of Physiology. Cell Physiology

Zhao, Yongtong Y; Shapiro, Sandor S SS; Eto, Masumi M

Publication Date: 2016-01-01

Variant appearance in text: FLNB: S235P

PubMed Link: 26491051

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: FLNB: S235P

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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Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.

American Journal Of Human Genetics

Duff, Rachael M RM; Tay, Valerie V; Hackman, Peter P; Ravenscroft, Gianina G; McLean, Catriona C; Kennedy, Paul P; Steinbach, Alina A; Schöffler, Wiebke W; van der Ven, Peter F M PFM; Fürst, Dieter O DO; Song, Jaeguen J; Djinović-Carugo, Kristina K; Penttilä, Sini S; Raheem, Olayinka O; Reardon, Katrina K; Malandrini, Alessandro A; Gambelli, Simona S; Villanova, Marcello M; Nowak, Kristen J KJ; Williams, David R DR; Landers, John E JE; Brown, Robert H RH; Udd, Bjarne B; Laing, Nigel G NG

Publication Date: 2011-06-10

Variant appearance in text: FLNB: 703T>C; Ser235Pro

PubMed Link: 21620354

Variant Present in the following documents:

• Main text

View BVdb publication page

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