Results 131 to 140 of about 1,791,159 (252)

KAT8‐Low Osteosarcoma Suppresses Cisplatin Sensitivity via H4K16ac‐Mediated Cell Apoptosis

Med Research, EarlyView.
The scientific significance of this study is highlighted below: (1) Data mining and clinical discovery: These findings establish a direct clinical link between the KAT8–H4K16ac axis and chemotherapy response in osteosarcoma. (2) Multi‐omics and machine‐learning integration: We integrated proteomics and CUT&Tag multi‐omics to elucidate how chromatin ...
Zhenqun Zhao, Guohui Yu, Shikui Wu, Zhiyang Zhang, Keke Wang, Yingxin Xiong, Chao Sun, Haobo Cui, Yuxing Wang, Ziheng Wang, Huiru Zhang, Huiqin Xue, Shibing Guo   +12 more
wiley   +1 more source

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

Rare‐Variant Burden Analysis of Dystonia Genes in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Dystonia frequently coexists with Parkinson's disease (PD), yet the extent of genetic overlap remains insufficiently explored. Objective The aim was to examine whether rare variants in dystonia‐related genes are associated with PD or early‐onset PD (EOPD).
Sajanth Kanagasingam, Sitki Cem Parlar, Lang Liu, Ziv Gan‐Or, Konstantin Senkevich   +4 more
wiley   +1 more source

Trajectory of exonic variant discovery in a large clinical population: implications for variant curation

Genetics in Medicine, 2018
U. Mirshahi, Jonathan Z. Luo, Kandamurugu Manickam, Amr H. Wardeh, T. Mirshahi, M. Murray, D. Carey   +6 more
semanticscholar   +1 more source

Exonic regions coverage.

, 2015
Percentage of exonic regions covered at a read depth ≥ 5, an alignment score ≥ 10, a basecall quality ≥ 10 from WGS subsets of the original full set with different average X-fold coverage values.
Alberto Ferrarini (133939), Luciano Xumerle (765931), Cesare Centomo (765934), Claudio Franceschi (68521), Julien Marquis (765936), Francesca Griggio (66872), Marianna Garonzi (765932), Sergio Marin Vargas (765935), Paolo Garagnani (414846), Massimo Delledonne (133941), Chiara Cantaloni (765933), Benjamin A. Salisbury (765937), Patrick Descombes (16839), Sebastiano Collino (385873), John Max Harvey (765938)   +14 more
core   +1 more source

ATXN8OS Intermediate Expansion Acts as a Genetic Modifier in Spinocerebellar Ataxia Type 48 (SCA48/STUB1)

Movement Disorders, EarlyView.
Abstract Background Association between monoallelic STUB1 variant and expanded ATXN8OS alleles was recently reported, suggesting a pathogenic interaction that may influence spinocerebellar ataxia type 48 (SCA48) phenotype. Objectives We investigated the frequency and clinical impact of ATXN8OS in a large cohort of STUB1 carriers compared to individuals
Charlotte Mouraux, Jean‐Loup Méreaux, Claire‐Sophie Davoine, Léna Guillot Noel, Emilien Petit, Quentin Thomas, Adem Nasraoui, Anna Heinzmann, Claire Ewenczyk, Alexis Brice, Alexandra Durr, Giulia Coarelli   +11 more
wiley   +1 more source

Genomic variant classifier tool

, 2018
The exome or genome based high throughput screening techniques are becoming a definitive criterion in the conventional clinical analysis of the genetic diseases.
Manderick, B., Nowe, A., Van Dooren, S., Bonduelle, M., Garcia Lorenzo, M.M., Farid, D.M., Croes, D., Sengupta, D., Grau, I., Daneels, D.   +9 more
core   +1 more source

A Case of Distal Hereditary Motor Neuronopathy‐7 With Two Novel VWA1 Variants in Compound Heterozygosity

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT Distal hereditary motor neuronopathy‐7 (HMNR7) is an autosomal recessive VWA1‐related disorder characterized predominantly by distal motor involvement. A 41‐year‐old man with a history of childhood orthopedic surgery for foot deformities exhibited progressive distal weakness and muscle atrophy with lower limb predominance. Electrophysiological
Toshiyuki Kakumoto, Kenta Orimo, Takashi Matsukawa, Jun Mitsui, Shoji Tsuji   +4 more
wiley   +1 more source

Lenticulostriate vasculopathy in newborns: whole genome sequencing data analysis

Frontiers in Pediatrics
ObjectivesLenticulostriate vasculopathy (LSV) refers to hyperechogenic vessels detected in thalami and basal ganglia, using cranial ultrasound. Awareness of LSV has revealed its links to various neonatal diseases that can affect brain development ante ...
Svetlana Dauengauer-Kirlienė, Dovydas Pranauskas, Yogen Singh, Vaidutis Kučinskas, Alina Urnikytė   +4 more
doaj   +1 more source

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 more
wiley   +1 more source