Results 131 to 140 of about 784,063 (262)

Correction to: Functional classification of RUNX1 variants in familial platelet disorder with associated myeloid malignancies. [PDF]

Leukemia, 2022
Decker M, Lammens T, Ferster A, Erlacher M, Yoshimi A, Niemeyer CM, Ernst MPT, Raaijmakers MHGP, Duployez N, Flaum A, Steinemann D, Schlegelberger B, Illig T, Ripperger T.   +13 more
europepmc   +1 more source

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

Functional classification of antineutrophil cytoplasmic antibody (ANCA) and its relation with clinical parameters of ANCA-associated vasculitis. [PDF]

Biochem Biophys Rep
Taniguchi M, Washio C, Uchizawa M, Ogawa N, Manabe R, Arai S, Ogawa H, Nishibata Y, Masuda S, Nakazawa D, Tomaru U, Arimura Y, Amano K, Yuzawa Y, Sada KE, Atsumi T, Dobashi H, Harigai M, Matsuo S, Makino H, Ishizu A.   +20 more
europepmc   +1 more source

Development of the Pulmonary Hypertension Functional Classification Self-Report: a patient version adapted from the World Health Organization Functional Classification measure. [PDF]

Health Qual Life Outcomes, 2021
Highland KB, Crawford R, Classi P, Morrison R, Doward L, Nelsen AC, Castillo H, Mathai SC, DuBrock HM.   +8 more
europepmc   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Five‐Year Disease Progression in Synuclein Seeding Positive Sporadic Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive description of disease progression in synuclein seeding assay (SAA) positive sporadic Parkinson Disease participants, using Neuronal Synuclein Disease integrated biological and functional impairment staging framework.
Paulina Gonzalez‐Latapi, Caroline Gochanour, Seung Ho Choi, Hyunkeun Cho, Chelsea Caspell‐Garcia, Christopher Coffey, Michael Brumm, David‐Erick Lafontant, Yuge Xiao, Thomas Tropea, John Seibyl, Caroline Tanner, Charles S. Venuto, Karl Kieburtz, Lana M. Chahine, Kathleen L. Poston, Andrew Siderowf, Kenneth Marek, Tanya Simuni, The Parkinson's Progression Markers Initiative   +19 more
wiley   +1 more source

Functional classification of platelet gene variants using CRISPR HDR in CD34⁺ cell-derived megakaryocytes. [PDF]

Am J Hum Genet
Kosaka Y, Lopez B, Kishimoto N, Jacob S, Montenont E, Huallanca R, Coughenour G, Di Paola J, Ross J, Lee K, Rondina MT, Bray PF, Rowley JW.   +12 more
europepmc   +1 more source

Transcriptome-guided annotation and functional classification of long non-coding RNAs in Arabidopsis thaliana. [PDF]

Sci Rep, 2022
Corona-Gomez JA, Coss-Navarrete EL, Garcia-Lopez IJ, Klapproth C, Pérez-Patiño JA, Fernandez-Valverde SL.   +5 more
europepmc   +1 more source

Structure–Function Decoupling of the Sensorimotor and Default Mode Networks in Black Americans With MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Multiple sclerosis (MS) exhibits racially disparate rates of disease progression. Black people with MS (B‐PwMS) experience a more severe disease course than non‐Hispanic White people with MS (NHW‐PwMS). Here we investigated structural and functional connectivity as well as structure–function decoupling in the ...
Emilio Cipriano, Giacomo Boffa, Maria Petracca, Marta Ponzano, Nicole Graziano, Claire Wigley, Claire Riley, Jonathan Howard, Pietro Bontempi, Sylvia Klineova, Fred Lublin, Matilde Inglese   +11 more
wiley   +1 more source

Gross motor functional classification for arthrogryposis multiplex congenita: protocol for co-development involving public with lived and professional experience. [PDF]

Res Involv Engagem
Araujo CRS, Hyer L, Sienko SE, Buckon C, Costa C, Natera-de Benito D, Donohoe M, Donlevie K, Emblin M, Fafara A, Sullivan JC, Dahan-Oliel N, AMC Registry Team members.   +12 more
europepmc   +1 more source