Results 111 to 120 of about 595,057 (344)

Changes in allele frequencies and genetic architecture due to selection in two pig populations

Genetics Selection Evolution
Background Genetic selection improves a population by increasing the frequency of favorable alleles. Understanding and monitoring allele frequency changes is, therefore, important to obtain more insight into the long-term effects of selection. This study
Yvonne C. J. Wientjes, Katrijn Peeters, Piter Bijma, Abe E. Huisman, Mario P. L. Calus   +4 more
doaj   +1 more source

VDBP Gene Polymorphism in COPD

Medicine Science, 2013
Chronic obstructive pulmonary disease (COPD) is a disease which genetic and environmental factors play an important role in COPD development. VDBP (Vitamin D Binding Protein ) gene might be responsible for COPD development.
Sadan Soyyigit, Onur Baykara, Nur Buyru, Muzeyyen Erk   +3 more
doaj   +1 more source

Allele Frequency Distribution Under Recurrent Selective Sweeps [PDF]

Genetics, 2006
Abstract The allele frequency of a neutral variant in a population is pushed either upward or downward by directional selection on a linked beneficial mutation (“selective sweeps”). DNA sequences sampled after the fixation of the beneficial allele thus contain an excess of rare neutral alleles.
openaire   +2 more sources

Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow, Matthew Katz, Jonathan Rodgers, Mark Davis, Thomas Robertson, R. J. McKinlay Gardner, Pamela A. McCombe   +6 more
wiley   +1 more source

Expression of natural killer receptor alleles at different Ly49 loci occurs independently and is regulated by major histocompatibility complex class I molecules. [PDF]

, 2001
Ly49 receptor genes are expressed by subsets of natural killer (NK) cells in an overlapping fashion, accounting for the capacity of NK subsets to attack host cells that have selectively downregulated self-major histocompatibility complex (MHC) class I ...
Hanke, T, Jamieson, A, RAULET, David H., Takizawa, H, Tanamachi, D   +4 more
core   +1 more source

Additional file 1 of A simple method to estimate the in-house limit of detection for genetic mutations with low allele frequencies in whole-exome sequencing analysis by next-generation sequencing

, 2021
Takumi Miura, Satoshi Yasuda, Yoji Sato
openalex   +1 more source

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

Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian, Peter Auguste, Amy Grove, Anna Brown, Janette Parr, Mubarak Patel, Furqan Butt, Jeremiah Donoghue, Mehdi Yousefi, Jo Parsons   +9 more
wiley   +1 more source

An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Guido Greco, Caterina Motta, Enrica Marchionni, Maria Rosaria D'Apice, Carlangelo Carrese, Giuseppe Novelli, Alessandro Martorana, Chiara Giuseppina Bonomi   +7 more
wiley   +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