Results 131 to 140 of about 103,950 (258)

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Chromosome segregation in a minimal bacterial cell driven by SMC protein complexes. [PDF]

Protein Sci
Maytin AK, Gilbert BR, Luthey-Schulten Z.   +2 more
europepmc   +1 more source

Mapping Causal Biology: Mendelian Randomization in the Era of Big Data

Med Research, EarlyView.
Mendelian randomization (MR) leverages genetic variants to mitigate confounding biases in causal inference. This review systematically maps MR's methodological evolution, highlights its expanding applications in epidemiology and drug target validation, and outlines future directions for overcoming current biases through dynamic, multi‐omics, and cross ...
Xuanlu Shen, Chunrun Qu, Zeyu Wang, Jinglin Zhou, Hongwei Liu, Yingjie Li, Bowei Liu, Hao Zhang, Nan Zhang, Jingwei Zhang, Quan Cheng   +10 more
wiley   +1 more source

Interplay between cohesin and TORC1 links chromosome segregation and gene expression to environmental changes. [PDF]

Elife
Besson D, Vaur S, Vazquez S, Tournier S, Gachet Y, Birot A, Claverol S, Marston AL, Damdimopoulos A, Ekwall K, Javerzat JP.   +10 more
europepmc   +1 more source

Chromosome Segregation [PDF]

, 2020
openaire   +1 more source

Heterogenous Neuropathology in a Pedigree with RAB39B‐Related Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background In 2015, we reported a family with Parkinson's disease resulting from the RAB39B p.G192R (c.574G>A) variant. Since then, two affected brothers from the family have undergone autopsy. Objectives To characterize neuropathological findings, assess intracellular distribution of RAB39B protein, and examine the effect of p.G192R on α ...
Caitlin Latimer, Oswaldo Lorenzo‐Betancor, Dong‐Hui Chen, Kimmy Su, Marika Bogdani, Anna J. Park, Minsuh Kim, Joshua Weiss, Malia Callier, Ella H. Chiu, Sarah Fish, Jennifer L. Witt, Wendy H. Raskind, Marie Y. Davis, C. Dirk Keene, Cyrus P. Zabetian   +15 more
wiley   +1 more source

Chromosome segregation synchrony in S. pombe is noise limited and arises without positive feedback. [PDF]

J Cell Biol
Williams W, Phan K, Chen J, Legewie S, Kamenz J, Hauf S.   +5 more
europepmc   +1 more source

Ensuring fidelity of chromosome segregation

Molecular Biology of the Cell, 2018
Ünal, Elçin, Torres, Jorge Z
openaire   +4 more sources

DNAJC13 Variants Show No Robust Association With Parkinson's Disease in a Multiancestry Cohort

Movement Disorders, EarlyView.
Abstract Background DNAJC13 was initially linked to autosomal dominant (AD) Parkinson's disease (PD) in a European Mennonite family carrying the p.N855S variant. However, imperfect segregation and conflicting reports of pathogenicity raised uncertainty of the role of DNAJC13 in the disease.
César Luis Ávila, Mariam Isayan, Yasser Mecheri, Paula Saffie‐Awad, María Milagros Leila, Laurel A. Screven, Hampton Leonard, Maria Teresa Periñan, Sheila Yeboah, Kristin Levine, Mary B. Makarious, on behalf of the Global Parkinson's Genetics Program (GP2)   +11 more
wiley   +1 more source

Microtubules guide Aurora B substrate geometries for accurate chromosome segregation. [PDF]

Sci Adv
Niu Y, DeLuca KF, Owen RH, Konishi HA, Gong R, Alushin GM, DeLuca JG, Funabiki H.   +7 more
europepmc   +1 more source