Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: HIVEP3: 7043C>T; Pro2348Leu; rs543298786

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology

Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X

Publication Date: 2023

Variant appearance in text: HIVEP3: P2348L; rs543298786

PubMed Link: 36742322

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes.

Embo Molecular Medicine

Vidali, Silvia S; Gerlini, Raffaele R; Thompson, Kyle K; Urquhart, Jill E JE; Meisterknecht, Jana J; Aguilar-Pimentel, Juan Antonio JA; Amarie, Oana V OV; Becker, Lore L; Breen, Catherine C; Calzada-Wack, Julia J; Chhabra, Nirav F NF; Cho, Yi-Li YL; da Silva-Buttkus, Patricia P; Feichtinger, René G RG; Gampe, Kristine K; Garrett, Lillian L; Hoefig, Kai P KP; Hölter, Sabine M SM; Jameson, Elisabeth E; Klein-Rodewald, Tanja T; Leuchtenberger, Stefanie S; Marschall, Susan S; Mayer-Kuckuk, Philipp P; Miller, Gregor G; Oestereicher, Manuela A MA; Pfannes, Kristina K; Rathkolb, Birgit B; Rozman, Jan J; Sanders, Charlotte C; Spielmann, Nadine N; Stoeger, Claudia C; Szibor, Marten M; Treise, Irina I; Walter, John H JH; Wurst, Wolfgang W; Mayr, Johannes A JA; Fuchs, Helmut H; Gärtner, Ulrich U; Wittig, Ilka I; Taylor, Robert W RW; Newman, William G WG; Prokisch, Holger H; Gailus-Durner, Valerie V; Hrabě de Angelis, Martin M

Publication Date: 2021-12-07

Variant appearance in text: HIVEP3: 7043C>T; Pro2348Leu

PubMed Link: 34750991

Variant Present in the following documents:

• Main text
• EMMM-13-e14397.pdf

View BVdb publication page

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Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes.

Embo Molecular Medicine

Vidali, Silvia S; Gerlini, Raffaele R; Thompson, Kyle K; Urquhart, Jill E JE; Meisterknecht, Jana J; Aguilar-Pimentel, Juan Antonio JA; Amarie, Oana V OV; Becker, Lore L; Breen, Catherine C; Calzada-Wack, Julia J; Chhabra, Nirav F NF; Cho, Yi-Li YL; da Silva-Buttkus, Patricia P; Feichtinger, René G RG; Gampe, Kristine K; Garrett, Lillian L; Hoefig, Kai P KP; Hölter, Sabine M SM; Jameson, Elisabeth E; Klein-Rodewald, Tanja T; Leuchtenberger, Stefanie S; Marschall, Susan S; Mayer-Kuckuk, Philipp P; Miller, Gregor G; Oestereicher, Manuela A MA; Pfannes, Kristina K; Rathkolb, Birgit B; Rozman, Jan J; Sanders, Charlotte C; Spielmann, Nadine N; Stoeger, Claudia C; Szibor, Marten M; Treise, Irina I; Walter, John H JH; Wurst, Wolfgang W; Mayr, Johannes A JA; Fuchs, Helmut H; Gärtner, Ulrich U; Wittig, Ilka I; Taylor, Robert W RW; Newman, William G WG; Prokisch, Holger H; Gailus-Durner, Valerie V; Hrabě de Angelis, Martin M

Publication Date: 2021-12-07

Variant appearance in text: HIVEP3: 7043C>T; Pro2348Leu

PubMed Link: 34750991

Variant Present in the following documents:

• Main text
• EMMM-13-e14397.pdf

View BVdb publication page

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Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer

Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T

Publication Date: 2021-10

Variant appearance in text: HIVEP3: 7043C>T; Pro2348Leu

PubMed Link: 34738089

Variant Present in the following documents:

• NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: HIVEP3: P2348L

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics

Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS

Publication Date: 2019

Variant appearance in text: HIVEP3: P2348L; rs543298786

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

View BVdb publication page

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