Results 181 to 190 of about 676,403 (246)

Challenges in functional validation and mechanistic interpretation of a novel LACC1 variant in familial juvenile arthritis. [PDF]

Hum Genomics
Yu L, Yang D, Ye Z, Wang G.
europepmc   +1 more source

Shared Genetic Effects and Antagonistic Pleiotropy Between Multiple Sclerosis and Common Cancers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epidemiologic studies have reported inconsistent altered cancer risk in individuals with multiple sclerosis (MS). Factors such as immune dysregulation, comorbidities, and disease‐modifying therapies may contribute to this variability.
Asli Buyukkurt, Marius Ygonia, Ali Manouchehrinia, Philippe Lefrançois, Ingrid Kockum, Adil Harroud   +5 more
wiley   +1 more source

High-resolution Hi-C profiling of human breast tissues using an optimized protocol for clinical samples. [PDF]

STAR Protoc
Choppavarapu L, Fang K, Eacker S, Langford K, Rader JS, Jin VX.   +5 more
europepmc   +1 more source

Development of a Prediction Model for Progression Risk in High‐Grade Gliomas Based on Habitat Radiomics and Pathomics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To investigate the value of constructing models based on habitat radiomics and pathomics for predicting the risk of progression in high‐grade gliomas. Methods This study conducted a retrospective analysis of preoperative magnetic resonance (MR) images and pathological sections from 72 patients diagnosed with high‐grade gliomas (52 ...
Yuchen Zhu, Yuxi Gong, Weilin Xu, Xingjian Sun, Gefei Jiang, Lei Qiu, Kexin Shi, Mengxing Wu, Yinjiao Fei, Jinling Yuan, Jinyan Luo, Yurong Li, Yuandong Cao, Minhong Pan, Shu Zhou   +14 more
wiley   +1 more source

Generation of quartet reference materials for preimplantation genetic testing for structural rearrangements. [PDF]

BMC Genomics
Sun N, Zhang W, Yu D, Zhang M, Zou Y, Dong X, Wang Y, Song N, Guo Y, Jiang C, Wang W, Kong L, Liang B, Fei J, Lu S, Peng Z, Yu T, Xiang J, Qu S.   +18 more
europepmc   +1 more source

Unraveling the Molecular Mechanisms of Glioma Recurrence: A Study Integrating Single‐Cell and Spatial Transcriptomics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Glioma recurrence severely impacts patient prognosis, with current treatments showing limited efficacy. Traditional methods struggle to analyze recurrence mechanisms due to challenges in assessing tumor heterogeneity, spatial dynamics, and gene networks.
Lei Qiu, Yinjiao Fei, Jiaxuan Ding, Kexin Shi, Jinyan Luo, Yuchen Zhu, Xingjian Sun, Gefei Jiang, Yuandong Cao, Weilin Xu, Shu Zhou   +10 more
wiley   +1 more source

Oncological Genetic Counseling in Hereditary Breast and Ovarian Cancers and Lynch Syndrome High-Risk Subjects: Evaluation of Efficacy and Outcomes Using the Genomics Outcome Scale. [PDF]

Hum Mutat
Maccaroni E, Chiariotti R, Giampieri R, Bianchi F, Brugiati C, Belvederesi L, Ambrosini E, Chiodi N, Serritelli EN, Morgese F, Agostinelli V, Mentrasti G, Copparoni C, Magnarini A, De Filippis C, Burattini E, Bracci R, Chiari R, Del Prete M, Bisonni R, Faloppi L, Battelli N, Silva RR, Berardi R.   +23 more
europepmc   +1 more source

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source

An expanded role for single-cell chemical genomics profiling in drug discovery. [PDF]

Biochem J
Wyatt A, Hoffer-Hawlik K, Giglio RM, Azizi E, McFaline-Figueroa JL.   +4 more
europepmc   +1 more source

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +1 more source