Publications:

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Hereditary Transthyretin Amyloidosis with Polyneuropathy: Monitoring and Management.

International Journal Of General Medicine

Vélez-Santamaría, Valentina V; Nedkova-Hristova, Velina V; Morales de la Prida, Moisés M; Casasnovas, Carlos C

Publication Date: 2022

Variant appearance in text: 225: Thr119Met

PubMed Link: 36573111

Variant Present in the following documents:

• Main text
• ijgm-15-8677.pdf

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Rare and common genetic determinants of metabolic individuality and their effects on human health.

Nature Medicine

Surendran, Praveen P; Stewart, Isobel D ID; Au Yeung, Victoria P W VPW; Pietzner, Maik M; Raffler, Johannes J; Wörheide, Maria A MA; Li, Chen C; Smith, Rebecca F RF; Wittemans, Laura B L LBL; Bomba, Lorenzo L; Menni, Cristina C; Zierer, Jonas J; Rossi, Niccolò N; Sheridan, Patricia A PA; Watkins, Nicholas A NA; Mangino, Massimo M; Hysi, Pirro G PG; Di Angelantonio, Emanuele E; Falchi, Mario M; Spector, Tim D TD; Soranzo, Nicole N; Michelotti, Gregory A GA; Arlt, Wiebke W; Lotta, Luca A LA; Denaxas, Spiros S; Hemingway, Harry H; Gamazon, Eric R ER; Howson, Joanna M M JMM; Wood, Angela M AM; Danesh, John J; Wareham, Nicholas J NJ; Kastenmüller, Gabi G; Fauman, Eric B EB; Suhre, Karsten K; Butterworth, Adam S AS; Langenberg, Claudia C

Publication Date: 2022-11

Variant appearance in text: 225: T119M

PubMed Link: 36357675

Variant Present in the following documents:

• Main text
• 41591_2022_Article_2046.pdf

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Development of a Highly Potent Transthyretin Amyloidogenesis Inhibitor: Design, Synthesis, and Evaluation.

Journal Of Medicinal Chemistry

Pinheiro, Francisca F; Pallarès, Irantzu I; Peccati, Francesca F; Sánchez-Morales, Adrià A; Varejão, Nathalia N; Bezerra, Filipa F; Ortega-Alarcon, David D; Gonzalez, Danilo D; Osorio, Marcelo M; Navarro, Susanna S; Velázquez-Campoy, Adrián A; Almeida, Maria Rosário MR; Reverter, David D; Busqué, Félix F; Alibés, Ramon R; Sodupe, Mariona M; Ventura, Salvador S

Publication Date: 2022-11-10

Variant appearance in text: 225: T119M

PubMed Link: 36306808

Variant Present in the following documents:

• Main text

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Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Journal Of Lipid Research

Dong, Weilai W; Wong, Karen H Y KHY; Liu, Youbin Y; Levy-Sakin, Michal M; Hung, Wei-Chien WC; Li, Mo M; Li, Boyang B; Jin, Sheng Chih SC; Choi, Jungmin J; Lopez-Giraldez, Francesc F; Vaka, Dedeepya D; Poon, Annie A; Chu, Catherine C; Lao, Richard R; Balamir, Melek M; Movsesyan, Irina I; Malloy, Mary J MJ; Zhao, Hongyu H; Kwok, Pui-Yan PY; Kane, John P JP; Lifton, Richard P RP; Pullinger, Clive R CR

Publication Date: 2022-06

Variant appearance in text: 225: Thr119Met

PubMed Link: 35460704

Variant Present in the following documents:

• mmc1.pdf

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Treatment of Transthyretin Amyloid Cardiomyopathy: The Current Options, the Future, and the Challenges.

Journal Of Clinical Medicine

Tschöpe, Carsten C; Elsanhoury, Ahmed A

Publication Date: 2022-04-12

Variant appearance in text: 225: Thr119Met

PubMed Link: 35456241

Variant Present in the following documents:

• Main text
• jcm-11-02148.pdf

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Cardiac Amyloidosis Treatment.

Methodist Debakey Cardiovascular Journal

Stern, Lily K LK; Patel, Jignesh J

Publication Date: 2022

Variant appearance in text: 225: T119M

PubMed Link: 35414852

Variant Present in the following documents:

• mdcvj-18-2-1050.pdf

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: 225: T119M

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: 225: T119M

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

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ATTR Amyloidosis: Current and Emerging Management Strategies: JACC: CardioOncology State-of-the-Art Review.

Jacc. Cardiooncology

Griffin, Jan M JM; Rosenthal, Julie L JL; Grodin, Justin L JL; Maurer, Mathew S MS; Grogan, Martha M; Cheng, Richard K RK

Publication Date: 2021-10

Variant appearance in text: 225: Thr119Met

PubMed Link: 34729521

Variant Present in the following documents:

• Main text
• main.pdf

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Progress and challenges in the treatment of cardiac amyloidosis: a review of the literature.

Esc Heart Failure

Adam, Robert Daniel RD; Coriu, Daniel D; Jercan, Andreea A; Bădeliţă, Sorina S; Popescu, Bogdan A BA; Damy, Thibaud T; Jurcuţ, Ruxandra R

Publication Date: 2021-08

Variant appearance in text: 225: Thr119Met

PubMed Link: 34089308

Variant Present in the following documents:

• Main text
• EHF2-8-2380.pdf

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Feasibility of assessing progression of transthyretin amyloid polyneuropathy using nerve conduction studies: Findings from the Transthyretin Amyloidosis Outcomes Survey (THAOS).

Journal Of The Peripheral Nervous System : Jpns

Waddington-Cruz, Márcia M; Ando, Yukio Y; Amass, Leslie L; Kiszko, Jan J; Chapman, Doug D; Sekijima, Yoshiki Y; ,

Publication Date: 2021-06

Variant appearance in text: 225: Thr119Met

PubMed Link: 33844361

Variant Present in the following documents:

• Main text
• JNS-26-160.pdf

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Transthyretin cardiac amyloidosis: an update on diagnosis and treatment.

Esc Heart Failure

Yamamoto, Hiroyuki H; Yokochi, Tomoki T

Publication Date: 2019-12

Variant appearance in text: 225: Thr119Met

PubMed Link: 31553132

Variant Present in the following documents:

• Main text
• EHF2-6-1128.pdf

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Identification and analysis of mutational hotspots in oncogenes and tumour suppressors.

Oncotarget

Baeissa, Hanadi H; Benstead-Hume, Graeme G; Richardson, Christopher J CJ; Pearl, Frances M G FMG

Publication Date: 2017-03-28

Variant appearance in text: 225: T119M

PubMed Link: 28423505

Variant Present in the following documents:

• oncotarget-08-21290-s007.xlsx, sheet 1

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: 225: T119M

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

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Differential analysis of glioblastoma multiforme proteome by a 2D-DIGE approach.

Proteome Science

Collet, Brigitte B; Guitton, Nathalie N; Saïkali, Stephan S; Avril, Tony T; Pineau, Charles C; Hamlat, Abderrahmane A; Mosser, Jean J; Quillien, Véronique V

Publication Date: 2011-04-06

Variant appearance in text: 225: Thr119met

PubMed Link: 21470419

Variant Present in the following documents:

• Main text
• 1477-5956-9-16.pdf

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