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PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
Hall EA, Nahorski MS, Murray LM, Shaheen R, Perkins E, Dissanayake KN, Kristaryanto Y, Jones RA, Vogt J, Rivagorda M, Handley MT, Mali GR, Quidwai T, Soares DC, Keighren MA, McKie L, Mort RL, Gammoh N, Garcia-Munoz A, Davey T, Vermeren M, Walsh D, Budd P, Aligianis IA, Faqeih E, Quigley AJ, Jackson IJ, Kulathu Y, Jackson M, Ribchester RR, von Kriegsheim A, Alkuraya FS, Woods CG, Maher ER, Mill P. Hall EA, et al. Among authors: von kriegsheim a. Am J Hum Genet. 2017 May 4;100(5):706-724. doi: 10.1016/j.ajhg.2017.03.008. Epub 2017 Apr 13. Am J Hum Genet. 2017. PMID: 28413018 Free PMC article.
In vivo analysis of noise dependent activation of white blood cells and microvascular dysfunction in mice.
Eckrich J, Ruan Y, Jiang S, Frenis K, Rodriguez-Blanco G, Maas AP, Jimenez MTB, Kuntic M, Oelze M, Hahad O, Li H, Steven S, Strieth S, von Kriegsheim A, Münzel T, Daiber A, Gericke A, Ernst BP. Eckrich J, et al. Among authors: von kriegsheim a. MethodsX. 2021 Oct 8;8:101540. doi: 10.1016/j.mex.2021.101540. eCollection 2021. MethodsX. 2021. PMID: 34754808 Free PMC article.
Common and Distinctive Functions of the Hippo Effectors Taz and Yap in Skeletal Muscle Stem Cell Function.
Sun C, De Mello V, Mohamed A, Ortuste Quiroga HP, Garcia-Munoz A, Al Bloshi A, Tremblay AM, von Kriegsheim A, Collie-Duguid E, Vargesson N, Matallanas D, Wackerhage H, Zammit PS. Sun C, et al. Among authors: von kriegsheim a. Stem Cells. 2017 Aug;35(8):1958-1972. doi: 10.1002/stem.2652. Epub 2017 Jun 27. Stem Cells. 2017. PMID: 28589555 Free PMC article.
-------A type I IFN, prothrombotic hyperinflammatory neutrophil signature is distinct for COVID-19 ARDS--.
Reyes L, A Sanchez-Garcia M, Morrison T, Howden AJM, Watts ER, Arienti S, Sadiku P, Coelho P, Mirchandani AS, Zhang A, Hope D, Clark SK, Singleton J, Johnston S, Grecian R, Poon A, McNamara S, Harper I, Fourman MH, Brenes AJ, Pathak S, Lloyd A, Blanco GR, von Kriegsheim A, Ghesquiere B, Vermaelen W, Cologna CT, Dhaliwal K, Hirani N, Dockrell DH, Whyte MKB, Griffith D, Cantrell DA, Walmsley SR. Reyes L, et al. Among authors: von kriegsheim a, a sanchez garcia m. Wellcome Open Res. 2021 May 20;6:38. doi: 10.12688/wellcomeopenres.16584.2. eCollection 2021. Wellcome Open Res. 2021. PMID: 33997298 Free PMC article.
Raf family kinases: old dogs have learned new tricks.
Matallanas D, Birtwistle M, Romano D, Zebisch A, Rauch J, von Kriegsheim A, Kolch W. Matallanas D, et al. Among authors: von kriegsheim a. Genes Cancer. 2011 Mar;2(3):232-60. doi: 10.1177/1947601911407323. Genes Cancer. 2011. PMID: 21779496 Free PMC article.
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Reynolds JJ, Bicknell LS, Carroll P, Higgs MR, Shaheen R, Murray JE, Papadopoulos DK, Leitch A, Murina O, Tarnauskaitė Ž, Wessel SR, Zlatanou A, Vernet A, von Kriegsheim A, Mottram RM, Logan CV, Bye H, Li Y, Brean A, Maddirevula S, Challis RC, Skouloudaki K, Almoisheer A, Alsaif HS, Amar A, Prescott NJ, Bober MB, Duker A, Faqeih E, Seidahmed MZ, Al Tala S, Alswaid A, Ahmed S, Al-Aama JY, Altmüller J, Al Balwi M, Brady AF, Chessa L, Cox H, Fischetto R, Heller R, Henderson BD, Hobson E, Nürnberg P, Percin EF, Peron A, Spaccini L, Quigley AJ, Thakur S, Wise CA, Yoon G, Alnemer M, Tomancak P, Yigit G, Taylor AM, Reijns MA, Simpson MA, Cortez D, Alkuraya FS, Mathew CG, Jackson AP, Stewart GS. Reynolds JJ, et al. Among authors: von kriegsheim a. Nat Genet. 2017 Apr;49(4):537-549. doi: 10.1038/ng.3790. Epub 2017 Feb 13. Nat Genet. 2017. PMID: 28191891 Free PMC article.
129 results