Results 71 to 80 of about 88,056,303 (299)

Genetic factors associated with the predisposition to late onset Alzheimer's disease

, 2021
Background Alzheimer's disease is a progressive, irreversible neurodegenerative disorder characterized by loss of memory and cognitive skills. More than 90% of cases are sporadic and have later age of onset.
Pehlivan, Sacide, Orman, Mehmet, Kumral, Emre, ONAY, HÜSEYİN, Aslan, Gulcin Itirli, Ozkinay, Ferda, Durmaz, Burak, Cogulu, Ozgur, DURMAZ, ASUDE   +8 more
core   +1 more source

Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level

Aging and Cancer, EarlyView.
This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley   +1 more source

Genetic predisposition to Parkinson's disease: CYP2D6 and HFE in the Faroe Islands

Pharmacogenetics and Genomics, 2008
To investigate whether the genetic variants of CYP2D6 and HFE are more frequent in Parkinson's disease (PD) patients compared with controls in a population where the prevalence of these variants and PD are increased.Blood samples were collected from 79 PD patients and 154 controls in the Faroe Islands.
Halling, Jónrit, Petersen, Maria Skaalum, Grandjean, Philippe; id_orcid 0000-0003-4046-9658, Weihe, Pál, Brøsen, Kim   +4 more
openaire   +3 more sources

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

CLINICAL AND GENETIC PARALLELS ALONG CELIAC DISEASE AMONG TOMSK CHILDREN

Педиатрическая фармакология, 2007
The article is devoted to the analysis of the genetic predisposition to celiac disease. The authors studied the associations of the HLA genes and modifier genes of the immune response (interleukine 1, inter leukine 1 receptor antagonist, inter leukine 4,
E.I. Kondrat’eva, V.P. Puzyrev, L.P. Nazarenko, A.A. Rudko, G.N. Yankina, E.V. Loshkova   +5 more
doaj   +2 more sources

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han, Jiachun Pan, Yuehui Hong, Xiaoyuan Fan, Ming Yao, Lixin Zhou, Yicheng Zhu, Feng Feng, Jun Ni   +8 more
wiley   +1 more source

An exploratory mixed-methods study using the ELICIT framework to identify stakeholder-informed implementation strategies for a population health platform

BMC Health Services Research
Background GARDE is an open-source software platform that supports population health management interventions including hereditary cancer cohort identification, patient engagement, education, and access to genetic testing services.
Anne C. Madeo, Jarrod Marable, Polina Kukhareva, Wendy K. Kohlmann, Richard L. Bradshaw, Whitney Maxwell, Che Martin, Lauren Davis-Rivera, Muhammad Danyal Ahsan, Emerson P. Borsato, Elena B. Elkin, Kimberly A. Kaphingst, Melissa K. Frey, Ravi N. Sharaf, Kensaku Kawamoto, Guilherme Del Fiol, Chelsey Schlechter, Caitlin G. Allen   +17 more
doaj   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Pilot GWAS of caries in African-Americans shows genetic heterogeneity

BMC Oral Health, 2019
Background Dental caries is the most common chronic disease in the US and disproportionately affects racial/ethnic minorities. Caries is heritable, and though genetic heterogeneity exists between ancestries for a substantial portion of loci associated ...
E. Orlova, J. C. Carlson, M. K. Lee, E. Feingold, D. W. McNeil, R. J. Crout, R. J. Weyant, M. L. Marazita, J. R. Shaffer   +8 more
doaj   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source