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: ERBB2: 3635C>G; Ala1212Gly
Distinctive mechanisms underlie the loss of SMARCB1 protein expression in renal medullary carcinoma: morphologic and molecular analysis of 20 cases.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Jia, Liwei L; Carlo, Maria I MI; Khan, Hina H; Nanjangud, Gouri J GJ; Rana, Satshil S; Cimera, Robert R; Zhang, Yanming Y; Hakimi, A Ari AA; Verma, Amit K AK; Al-Ahmadie, Hikmat A HA; Fine, Samson W SW; Gopalan, Anuradha A; Sirintrapun, S Joseph SJ; Tickoo, Satish K SK; Reuter, Victor E VE; Gartrell, Benjamin A BA; Chen, Ying-Bei YB
Genomic Characterization of Renal Medullary Carcinoma and Treatment Outcomes.
Clinical Genitourinary Cancer
Carlo, Maria I MI; Chaim, Joshua J; Patil, Sujata S; Kemel, Yelena Y; Schram, Alison M AM; Woo, Kaitlin K; Coskey, Devyn D; Nanjangud, Gouri J GJ; Voss, Martin H MH; Feldman, Darren R DR; Hsieh, James J JJ; Hakimi, A Ari AA; Chen, Ying-Bei YB; Motzer, Robert J RJ; Lee, Chung-Han CH