Results 221 to 230 of about 4,320,960 (307)

Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome. [PDF]

Mol Med
Sklenar M, Borecka S, Varga L, Bernardinelli E, Stanik J, Skopkova M, Sabo M, Ugorova D, Dossena S, Gasperikova D.   +9 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

Exome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous Pakistani Families. [PDF]

Eur J Hum Genet
Aleem T, Rashid M, Ahmad N, Asif MF, Tariq M, Malik NA, Poulter JA.   +6 more
europepmc   +1 more source

Long‐Term Follow‐Up of Chemotherapy‐Associated Biological Aging in Women With Early Breast Cancer

Aging and Cancer, EarlyView.
Women threated with adjuvant chemotherapy for early breast cancer have sustained long‐term increase in p16INK4a,, a robust marker of cell senescence, suggesting a chemotherapy‐associated age acceleration. p16INK4a as well as other biomarkers may identify patients at greatest risk for senescence‐related diseases of aging.
Hyman B. Muss, Alexis C. Wardell, Allison M. Deal, Kirsten A. Nyrop, Allison Ross, Yara G. Abdou, Jeffrey D. Aldrich, Lisa A. Cary, E. Claire Dees, Katherine E. Reeder‐Hayes, Emily M. Ray, Natalia Mitin, Denis Tsygankov   +12 more
wiley   +1 more source

Phenotype-driven clustering of ocular manifestations reveals prognostic and genetic heterogeneity in Marfan syndrome: a real-world longitudinal cohort study. [PDF]

J Transl Med
Shen X, Chen Z, Jia W, Wang Y, Chen X, Xiao Y, Huo Q, Chen T, Jiang Y.   +8 more
europepmc   +1 more source

Risk Prediction Models for Recurrence After Curative Treatment of Early‐Stage or Locally Advanced Lung Cancer: A Systematic Review

Aging and Cancer, EarlyView.
This systematic review synthesizes prognostic models for survival and recurrence in resected non‐small cell lung cancer. While many models demonstrate moderate to good discrimination, few are externally validated and reporting quality is variable, limiting clinical applicability and highlighting the need for robust, transparent model development ...
Evangeline Samuel, S. Tissera, E. Paul, J. Zalcberg, R. G. Stirling   +4 more
wiley   +1 more source

Chromosomal Microarray Analysis in Spina Bifida: Genetic Heterogeneity and Its Clinical Implications. [PDF]

J Indian Assoc Pediatr Surg
Pandey H, Sharma J, Kumar S, Mohan N, Jain V, Dhua AK, Yadav DK, Dubey AK, Choudhury P, Goel P.   +9 more
europepmc   +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

Gitelman Syndrome in the Sixth Decade: An Atypical Presentation with Severe Electrolyte Abnormalities and Genetic Heterogeneity. [PDF]

Ann Afr Med
Shivnitwar S, Raut SS, Kanitkar S, Bagare PC.   +3 more
europepmc   +1 more source

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source