Results 311 to 320 of about 2,130,247 (378)

The Impact of Genomics on Public Health Practice: The Case for Change

, 2012
Ron Zimmern, Muin J. Khoury
openalex   +2 more sources

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
wiley   +1 more source

Correction: Carrying APOL1 G1 allele is associated with cardiovascular complications during COVID-19 in an admixed population. [PDF]

Hum Genomics
Cadore NA, Fam BSO, Giudicelli GC, Kowalski TW, Sbruzzi RC, Castro E Silva MA, Feira MF, de Souza CMB, da Silva DR, Artigalás O, Lemes RB, Rodrigues MR, Nunes K, Pereira AC, Pereira LV, Hünemeier T, Vianna FSL.   +16 more
europepmc   +1 more source

Multi‐Omics Integration for Advancing Glioma Precision Medicine

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Gliomas are among the most malignant and aggressive tumors of the central nervous system, characterized by the absence of early diagnostic markers, poor prognosis, and a lack of effective treatments. Advances in high‐throughput technologies have facilitated a refined molecular classification of gliomas, incorporating genetic features. However,
Maria Guarnaccia, Valentina La Cognata, Giulia Gentile, Giovanna Morello, Sebastiano Cavallaro   +4 more
wiley   +1 more source

Special Issue "Molecular Advances in Heart Disease: Genomics, Proteomics, and Bioinformatics of Heart Research". [PDF]

Int J Mol Sci
Fert-Bober J.
europepmc   +1 more source

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Safe and effective genomic medicine implementation in hospitals: a scoping review. [PDF]

BMJ Open Qual
Clucas L, Kelly C, Do TT, Beadell I, Dawson-McClaren B, Gaff CL.   +5 more
europepmc   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Genome of the extinct Gotland cattle breed. [PDF]

BMC Genomics
Johnsson M, Johansson AM.
europepmc   +1 more source

Development and External Validation of a Genetic Risk Score for Pain in Rheumatoid Arthritis

Arthritis Care &Research, EarlyView.
Objective Several single‐nucleotide polymorphisms (SNPs) have been associated with chronic pain syndromes. Our objective was to determine whether genetic variants are associated with pain and disease activity in rheumatoid arthritis (RA). Methods Participants were included from two independent RA cohorts: FORWARD (National Databank for Rheumatic ...
Katie J. McMenamin, Thomas R. Riley IV, Kristin Wipfler, Kaleb Michaud, Austin Wheeler, Bryant R. England, Brian Sauer, Katherine D. Wysham, Rui Xiao, Michael March, Grant W. Cannon, Sylvanus Toikumo, Henry R. Kranzler, Rachel L. Kember, Ted R. Mikuls, Joshua F. Baker   +15 more
wiley   +1 more source