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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1.
Klionsky DJ, Abdel-Aziz AK, Abdelfatah S, Abdellatif M, Abdoli A, Abel S, Abeliovich H, Abildgaard MH, Abudu YP, Acevedo-Arozena A, Adamopoulos IE, Adeli K, Adolph TE, Adornetto A, Aflaki E, Agam G, Agarwal A, Aggarwal BB, Agnello M, Agostinis P, Agrewala JN, Agrotis A, Aguilar PV, Ahmad ST, Ahmed ZM, Ahumada-Castro U, Aits S, Aizawa S, Akkoc Y, Akoumianaki T, Akpinar HA, Al-Abd AM, Al-Akra L, Al-Gharaibeh A, Alaoui-Jamali MA, Alberti S, Alcocer-Gómez E, Alessandri C, Ali M, Alim Al-Bari MA, Aliwaini S, Alizadeh J, Almacellas E, Almasan A, Alonso A, Alonso GD, Altan-Bonnet N, Altieri DC, Álvarez ÉMC, Alves S, Alves da Costa C, Alzaharna MM, Amadio M, Amantini C, Amaral C, Ambrosio S, Amer AO, Ammanathan V, An Z, Andersen SU, Andrabi SA, Andrade-Silva M, Andres AM, Angelini S, Ann D, Anozie UC, Ansari MY, Antas P, Antebi A, Antón Z, Anwar T, Apetoh L, Apostolova N, Araki T, Araki Y, Arasaki K, Araújo WL, Araya J, Arden C, Arévalo MA, Arguelles S, Arias E, Arikkath J, Arimoto H, Ariosa AR, Armstrong-James D, Arnauné-Pelloquin L, Aroca A, Arroyo DS, Arsov I, Artero R, Asaro DML, Aschner M, Ashrafizadeh M, Ashur-Fabian O, Atanasov AG, Au AK, Auberger P, Auner HW, Aurelian L, Autelli R… See abstract for full author list ➔ Klionsky DJ, et al. Autophagy. 2021 Jan;17(1):1-382. doi: 10.1080/15548627.2020.1797280. Epub 2021 Feb 8. Autophagy. 2021. PMID: 33634751 Free PMC article.
Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children.
Gilad O, Dgany O, Noy-Lotan S, Krasnov T, Yacobovich J, Rabinowicz R, Goldberg T, Kuperman AA, Abu-Quider A, Miskin H, Kapelushnik N, Mandel-Shorer N, Shimony S, Harlev D, Ben-Ami T, Adam E, Levin C, Aviner S, Elhasid R, Berger-Achituv S, Chaitman-Yerushalmi L, Kodman Y, Oniashvilli N, Hameiri-Grosman M, Izraeli S, Tamary H, Steinberg-Shemer O. Gilad O, et al. Haematologica. 2022 Sep 1;107(9):2081-2095. doi: 10.3324/haematol.2021.280116. Haematologica. 2022. PMID: 35295078 Free PMC article.
Lessons Learned From Five Years of Newborn Screening for Severe Combined Immunodeficiency in Israel.
Lev A, Sharir I, Simon AJ, Levy S, Lee YN, Frizinsky S, Daas S, Saraf-Levy T, Broides A, Nahum A, Hanna S, Stepensky P, Toker O, Dalal I, Etzioni A, Stein J, Adam E, Hendel A, Marcus N, Almashanu S, Somech R. Lev A, et al. J Allergy Clin Immunol Pract. 2022 Oct;10(10):2722-2731.e9. doi: 10.1016/j.jaip.2022.04.013. Epub 2022 Apr 26. J Allergy Clin Immunol Pract. 2022. PMID: 35487367
A Novel Mutation in the ADAMTS10 Associated with Weil-Marchesani Syndrome with a Unique Presentation of Developed Membranes Causing Severe Stenosis of the Supra Pulmonic, Supramitral, and Subaortic Areas in the Heart.
Levitas A, Aspit L, Lowenthal N, Shaki D, Krymko H, Slanovic L, Yagev R, Parvari R. Levitas A, et al. Int J Mol Sci. 2023 May 16;24(10):8864. doi: 10.3390/ijms24108864. Int J Mol Sci. 2023. PMID: 37240210 Free PMC article.
We used whole exome sequencing (WES) to identify the causative mutation and report it as a homozygous nucleotide change c. 232T>C causing p. Tyr78His in ADAMTS10. ADAMTS10 (ADAM Metallopeptidase with Thrombospondin Type 1 Motif 10) is a member of a family of zinc-depend …
We used whole exome sequencing (WES) to identify the causative mutation and report it as a homozygous nucleotide change c. 232T>C causing …