Artículos por temáticas

Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cells

Pulman J, Ruzzenente B, Horak M, Barcia G, Boddaert N, Munnich A, Rötig A, Metodiev MD.

Mol Genet Metab. 2021 Nov;134(3):267-273. doi: 10.1016/j.ymgme.2021.09.005. Epub 2021 Sep 25.

Altered H3 histone acetylation impairs high-fidelity DNA repair to promote cerebellar degeneration in spinocerebellar ataxia type 7

Switonski PM, Delaney JR, Bartelt LC, Niu C, Ramos-Zapatero M, Spann NJ, Alaghatta A, Chen T, Griffin EN, Bapat J, Sopher BL, La Spada AR.

Cell Rep. 2021 Nov 30;37(9):110062. doi: 10.1016/j.celrep.2021.110062.

Perfluorooctane sulfonate (PFOS) triggers migration and invasion of esophageal squamous cell carcinoma cells via regulation of Zeb1

Liu Y, Li J, Ding H, Ge D, Wang J, Xu C.

Drug Chem Toxicol. 2021 Nov 3:1-10. doi: 10.1080/01480545.2021.1991775. Online ahead of print.

Varied phenotypic spectrum presenting of paroxysmal exercise-induced dyskinesia: a Turkish family with SLC2A1 mutation

Gultekin M, Dogan ME, Simsir G, Basak AN.

Neurol Sci. 2021 Nov;42(11):4751-4754. doi: 10.1007/s10072-021-05466-x. Epub 2021 Jul 19.

Left atrial appendage thrombosis in a patient with Friedreich Ataxia-related cardiomyopathy, left ventricular systolic dysfunction, and atrial fibrillation

Russo M, Nuzzo A, Foschi M, Boarin S, Lorenzetti S, Tomasi C, Querzani P, Rubboli A.

SAGE Open Med Case Rep. 2021 Oct 30;9:2050313X211056419. doi: 10.1177/2050313X211056419. eCollection 2021.

Serological and Molecular Detection of Anaplasma spp. in Blood From Healthy Horses: A Preliminary Study of Horses in East Texas

Russell A, Shost N, Burch M, Salazara LL, Fikes K, Bechelli J, Suagee-Bedore J.

J Equine Vet Sci. 2021 Nov;106:103757. doi: 10.1016/j.jevs.2021.103757. Epub 2021 Sep 6.

Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases

Canafoglia L, Franceschetti S, Gambardella A, Striano P, Giallonardo AT, Tinuper P, Di Bonaventura C, Michelucci R, Ferlazzo E, Granata T, Magaudda A, Licchetta L, Filla A, La Neve A, Riguzzi P, Canti

Neurol Genet. 2021 Nov 12;7(6):e641. doi: 10.1212/NXG.0000000000000641. eCollection 2021 Dec.

Encephalopathy caused by Talisia esculenta intoxication in pregnant ewes and their newborn lambs

Almeida VM, Silva-Filho GB, Bom HASC, Fonseca SMC, Riet-Correa F, Uzal FA, Woolard KD, Souza FAL, Mendonça FS.

J Vet Diagn Invest. 2021 Nov;33(6):1128-1132. doi: 10.1177/10406387211041098. Epub 2021 Aug 25.

DNA Double-strand Break Signaling Is a Therapeutic Target in Head and Neck Cancer

Wu J, Galvan KJ, Bogard RD, Peterson CE, Shergill A, Crowe DL.

Anticancer Res. 2021 Nov;41(11):5393-5403. doi: 10.21873/anticanres.15351.

Identification of a Missense Variant in the EIF2B3 Gene Causing Vanishing White Matter Disease with Antenatal-Onset but Mild Symptoms and Long-Term Survival

Khorrami M, Khorram E, Yaghini O, Rezaei M, Hejazifar A, Iravani O, Yazdani V, Riahinezhad M, Kheirollahi M.

J Mol Neurosci. 2021 Nov;71(11):2405-2414. doi: 10.1007/s12031-021-01810-0. Epub 2021 Mar 9.

Biomarkers of DNA Damage Response Enable Flow Cytometry-Based Diagnostic to Identify Inborn DNA Repair Defects in Primary Immunodeficiencies

Felgentreff K, Baumann U, Klemann C, Schuetz C, Viemann D, Wetzke M, Pannicke U, von Hardenberg S, Auber B, Debatin KM, Jacobsen EM, Hoenig M, Schulz A, Schwarz K.

J Clin Immunol. 2021 Oct 30. doi: 10.1007/s10875-021-01156-7. Online ahead of print.

Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

Yap ZY, Efthymiou S, Seiffert S, Vargas Parra K, Lee S, Nasca A, Maroofian R, Schrauwen I, Pendziwiat M, Jung S, Bhoj E, Striano P, Mankad K, Vona B, Cuddapah S, Wagner A, Alvi JR, Davoudi-Dehaghani E

Am J Hum Genet. 2021 Nov 17:S0002-9297(21)00415-8. doi: 10.1016/j.ajhg.2021.11.003. Online ahead of print.

Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS

Nethisinghe S, Abeti R, Kesavan M, Wigley WC, Giunti P.

Int J Mol Sci. 2021 Oct 29;22(21):11722. doi: 10.3390/ijms222111722.

ATARI trial: ATR inhibitor in combination with olaparib in gynecological cancers with ARID1A loss or no loss (ENGOT/GYN1/NCRI)

Banerjee S, Stewart J, Porta N, Toms C, Leary A, Lheureux S, Khalique S, Tai J, Attygalle A, Vroobel K, Lord CJ, Natrajan R, Bliss J.

Int J Gynecol Cancer. 2021 Nov;31(11):1471-1475. doi: 10.1136/ijgc-2021-002973. Epub 2021 Sep 13.

Recurrent ataxia and dysarthria in myelin oligodendrocyte glycoprotein antibody-associated disorder

Chakraborty U, Ghosh S, Datta AK, Chandra A.

BMJ Case Rep. 2021 Nov 12;14(11):e245341. doi: 10.1136/bcr-2021-245341.